Disease: Squamous cell carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12296850 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 3
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs402710
CLPTM1L
0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs2229090
XPC
0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22 6
rs1454328441
MUC1
0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 6
rs181696
PLCH1
0.925 0.080 3 155548315 intron variant T/C snv 0.55 3
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs765660823
DDR2
0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 4
rs11134527
MIR218-2 ; SLIT3
0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs577715207
TP63
0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 8
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs4977756
CDKN2B-AS1
0.683 0.440 9 22068653 intron variant G/A snv 0.64 24
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs2229094
LOC100287329 ; LTA
0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 17