Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555919960
BCOR
1.000 0.040 X 40074947 frameshift variant -/GT ins 1
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv 10
rs1057519938
PIK3CA
0.776 0.160 3 179203764 missense variant A/C;T snv 10
rs1057519936
PIK3CA
0.776 0.200 3 179234284 missense variant A/G;T snv 11
rs1554728034
NOTCH1
1.000 0.040 9 136505844 frameshift variant ACGAGCGT/- delins 1
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 31
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 17
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs780712297
BCOR
1.000 0.040 X 40062856 stop gained C/A;T snv 1.6E-05 1
rs121908390
CYLD ; LOC105371251
0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 8
rs1057519961
SF3B1
0.851 0.240 2 197402759 missense variant C/T snv 4
rs1554728658
NOTCH1
1.000 0.040 9 136509877 missense variant C/T snv 1
rs1555155110
LOC105369745 ; ARID2
1.000 0.040 12 45851112 stop gained C/T snv 1
rs587778223
CYLD ; LOC105371251
0.925 0.120 16 50784435 missense variant G/A snv 3.2E-05 2.1E-05 2
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 34
rs867384286
FBXW7
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 14
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv 12
rs775623976
SF3B1
0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06 4
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs28934874
TP53
0.695 0.480 17 7675161 missense variant G/A;C;T snv 21