Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1231071385
ATF2
1.000 0.040 2 175093177 frameshift variant -/G ins 1
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs1057519855
HRAS ; LRRC56
0.776 0.120 11 533873 missense variant CT/AC;TC mnv 11
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv 6
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 4
rs387906410
CDKN2A
0.882 0.080 9 21971019 missense variant GC/AG mnv 4
rs1057519718
BRAF
0.925 0.160 7 140753355 missense variant CA/TC mnv 2
rs121913368
BRAF
0.925 0.040 7 140753345 missense variant AG/GA mnv 2
rs121913372
BRAF
1.000 0.040 7 140753321 missense variant CT/AA mnv 1
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs121913226
BRAF
1.000 0.040 7 140753332 inframe deletion TTT/- del 1
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs2234663
IL1RN
0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 14
rs886040456
BRCA2
0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins 6
rs121913685
KIT
0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 4
rs762807774
SDF4
1.000 0.040 1 1228495 frameshift variant CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC delins 7.0E-06 2
rs876658220
CDKN2A
1.000 0.040 9 21971147 frameshift variant T/- delins 2
rs876658511
CDKN2A
1.000 0.040 9 21971147 frameshift variant TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- delins 2