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: rs1057519861
rs1057519861
EGFR ; EGFR-AS1
0.776 0.080 7 55181398 missense variant T/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.100 0.938 16 2015 2020
dbSNP: rs772092699
rs772092699
EPHB2
0.925 0.080 1 22912497 missense variant C/A;G;T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.070 1.000 7 2012 2020
dbSNP: rs727502902
rs727502902
BRAF
0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 6 2009 2012
dbSNP: rs397516981
rs397516981
ERBB2 ; MIR4728
1.000 0.080 17 39724748 inframe insertion -/GGGCTCCCC delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 5 2005 2012
dbSNP: rs1057519729
rs1057519729
MAP2K1
0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.720 1.000 4 1995 2016
dbSNP: rs1057519783
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.040 1.000 4 2014 2019
dbSNP: rs1057519788
rs1057519788
ROS1
0.925 0.080 6 117317184 missense variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2015 2019
dbSNP: rs397516980
rs397516980
ERBB2 ; MIR4728
1.000 0.080 17 39724744 protein altering variant G/TTAT delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 3 2005 2006
dbSNP: rs397516982
rs397516982
ERBB2 ; MIR4728
1.000 0.080 17 39724749 inframe insertion -/GGCTCCCCA delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 3 2004 2012
dbSNP: rs397517112
rs397517112
EGFR ; EGFR-AS1
1.000 0.080 7 55181320 protein altering variant -/ACC delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 3 2005 2011
dbSNP: rs7170924
rs7170924
IL16
0.851 0.080 15 81290798 intron variant G/T snv 0.30
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2016 2017
dbSNP: rs767935771
rs767935771
AXL
0.827 0.080 19 41259690 missense variant T/C snv 1.6E-05 5.6E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2016 2019
dbSNP: rs984755949
rs984755949
COL11A2
1.000 0.080 6 33172302 missense variant A/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 1.000 3 2011 2018
dbSNP: rs1057519784
rs1057519784
ALK
0.827 0.080 2 29220765 missense variant G/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2014 2017
dbSNP: rs1213277193
rs1213277193
ROS1
1.000 0.080 6 117359856 missense variant C/T snv 1.4E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2019 2019
dbSNP: rs121913229
rs121913229
EGFR
0.925 0.080 7 55174785 missense variant G/C snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2012 2014
dbSNP: rs121913231
rs121913231
EGFR
1.000 0.080 7 55174794 missense variant C/T snv 8.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2007 2014
dbSNP: rs121913420
rs121913420
EGFR
1.000 0.080 7 55174737 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2010 2014
dbSNP: rs121913430
rs121913430
EGFR
1.000 0.080 7 55174740 missense variant G/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2013 2014
dbSNP: rs121913432
rs121913432
EGFR ; EGFR-AS1
1.000 0.080 7 55181327 missense variant A/G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2008 2014
dbSNP: rs121913466
rs121913466
EGFR
1.000 0.080 7 55174762 missense variant T/C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2009 2014
dbSNP: rs12686377
rs12686377
SLC31A1 ; LOC107987119
1.000 0.080 9 113241753 intron variant C/A;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2012 2016
dbSNP: rs201661522
rs201661522
ABCB1
1.000 0.080 7 87539293 missense variant A/G snv 6.4E-05 1.0E-04
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2019 2019
dbSNP: rs2305035
rs2305035
CBLB
1.000 0.080 3 105720182 synonymous variant G/A snv 0.22 0.21
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2016 2018
dbSNP: rs374873413
rs374873413
EGFR ; EGFR-AS1
1.000 0.080 7 55181302 missense variant G/A;C snv 4.0E-05; 8.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2018 2019