Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10009228
rs10009228
CHRNA9
4 40354405 missense variant A/G snv 0.78 0.76
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
dbSNP: rs767808984
rs767808984
NKX2-1 ; SFTA3 ; NKX2-1-AS1
0.851 0.160 14 36520098 missense variant C/G;T snv 1.3E-05
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2012 2012
dbSNP: rs762846821
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 1.000 2 2012 2013
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2013 2013
dbSNP: rs2073778
rs2073778
DGCR8
22 20087052 non coding transcript exon variant C/T snv 0.12
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2013 2013
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2013 2013
dbSNP: rs720012
rs720012
DGCR8
22 20111059 3 prime UTR variant G/A snv 0.12
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2013 2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2013 2013
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
0.827 0.280 2 136114915 stop gained G/C snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2014 2014
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2014 2014
dbSNP: rs11549467
rs11549467
HIF1A ; HIF1A-AS3
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2014 2014
dbSNP: rs1273593548
rs1273593548
PIK3CG
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2014 2014
dbSNP: rs2016347
rs2016347
IGF1R
0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2014 2014
dbSNP: rs4444235
rs4444235 		0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2014 2014
dbSNP: rs773862672
rs773862672
MTOR
0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2014 2014
dbSNP: rs351855
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.030 1.000 3 2004 2015
dbSNP: rs11568818
rs11568818
MMP7
0.763 0.280 11 102530930 upstream gene variant T/A;C snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2015 2015
dbSNP: rs1284806277
rs1284806277
MOK
0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 1.000 2 2011 2016
dbSNP: rs121913279
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2016 2016
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2016 2016