********************************************************************************************** ** ** ** SNPs&GO ** ** Predicting disease associated variation using GO terms ** ** ** ********************************************************************************************** Sequence File: SP.seq Mutation Prediction RI Probability Method L3P Neutral 3 0.338 PhD-SNP: F[L]=67% F[P]=0% Nali=2 L3P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L3P Neutral 7 0.148 SNPs&GO V5M Neutral 5 0.252 PhD-SNP: F[V]=100% F[M]=0% Nali=2 V5M Unclassified NA NA PANTHER: F[V]=NA F[M]=NA V5M Neutral 9 0.051 SNPs&GO L6P Neutral 2 0.413 PhD-SNP: F[L]=75% F[P]=0% Nali=3 L6P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L6P Neutral 7 0.161 SNPs&GO L7M Neutral 9 0.033 PhD-SNP: F[L]=50% F[M]=25% Nali=3 L7M Unclassified NA NA PANTHER: F[L]=NA F[M]=NA L7M Neutral 10 0.011 SNPs&GO L8P Disease 3 0.651 PhD-SNP: F[L]=50% F[P]=0% Nali=3 L8P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L8P Neutral 5 0.239 SNPs&GO P12L Disease 3 0.651 PhD-SNP: F[P]=86% F[L]=0% Nali=6 P12L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P12L Neutral 4 0.276 SNPs&GO A17G Neutral 2 0.422 PhD-SNP: F[A]=91% F[G]=0% Nali=10 A17G Unclassified NA NA PANTHER: F[A]=NA F[G]=NA A17G Neutral 7 0.127 SNPs&GO A17V Disease 1 0.534 PhD-SNP: F[A]=91% F[V]=0% Nali=10 A17V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A17V Neutral 5 0.247 SNPs&GO H18R Disease 0 0.524 PhD-SNP: F[H]=64% F[R]=0% Nali=10 H18R Unclassified NA NA PANTHER: F[H]=NA F[R]=NA H18R Neutral 7 0.134 SNPs&GO G19E Disease 2 0.601 PhD-SNP: F[G]=73% F[E]=0% Nali=10 G19E Unclassified NA NA PANTHER: F[G]=NA F[E]=NA G19E Neutral 5 0.270 SNPs&GO G19R Disease 3 0.642 PhD-SNP: F[G]=73% F[R]=0% Nali=10 G19R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G19R Neutral 4 0.286 SNPs&GO H20Q Neutral 4 0.278 PhD-SNP: F[H]=73% F[Q]=9% Nali=10 H20Q Unclassified NA NA PANTHER: F[H]=NA F[Q]=NA H20Q Neutral 9 0.065 SNPs&GO P21L Disease 1 0.553 PhD-SNP: F[P]=83% F[L]=0% Nali=11 P21L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P21L Neutral 6 0.193 SNPs&GO P21Q Disease 2 0.582 PhD-SNP: F[P]=83% F[Q]=0% Nali=11 P21Q Unclassified NA NA PANTHER: F[P]=NA F[Q]=NA P21Q Neutral 6 0.206 SNPs&GO P21R Disease 2 0.592 PhD-SNP: F[P]=83% F[R]=0% Nali=11 P21R Unclassified NA NA PANTHER: F[P]=NA F[R]=NA P21R Neutral 6 0.212 SNPs&GO P21S Neutral 0 0.480 PhD-SNP: F[P]=83% F[S]=0% Nali=11 P21S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P21S Neutral 7 0.161 SNPs&GO L22M Neutral 4 0.291 PhD-SNP: F[L]=75% F[M]=0% Nali=11 L22M Unclassified NA NA PANTHER: F[L]=NA F[M]=NA L22M Neutral 9 0.065 SNPs&GO L22P Disease 3 0.632 PhD-SNP: F[L]=75% F[P]=0% Nali=11 L22P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L22P Neutral 5 0.257 SNPs&GO T24I Disease 3 0.669 PhD-SNP: F[T]=75% F[I]=0% Nali=15 T24I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T24I Neutral 4 0.301 SNPs&GO R25C Disease 5 0.730 PhD-SNP: F[R]=75% F[C]=0% Nali=15 R25C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R25C Neutral 2 0.378 SNPs&GO R25H Disease 3 0.664 PhD-SNP: F[R]=75% F[H]=0% Nali=15 R25H Unclassified NA NA PANTHER: F[R]=NA F[H]=NA R25H Neutral 4 0.314 SNPs&GO R25L Disease 6 0.799 PhD-SNP: F[R]=75% F[L]=0% Nali=15 R25L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R25L Neutral 1 0.434 SNPs&GO P27L Neutral 3 0.363 PhD-SNP: F[P]=50% F[L]=6% Nali=15 P27L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P27L Neutral 7 0.127 SNPs&GO P27T Neutral 4 0.312 PhD-SNP: F[P]=50% F[T]=0% Nali=15 P27T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P27T Neutral 9 0.065 SNPs&GO P28L Disease 1 0.527 PhD-SNP: F[P]=69% F[L]=0% Nali=15 P28L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P28L Neutral 6 0.197 SNPs&GO S29N Neutral 0 0.498 PhD-SNP: F[S]=69% F[N]=0% Nali=15 S29N Unclassified NA NA PANTHER: F[S]=NA F[N]=NA S29N Neutral 7 0.151 SNPs&GO S29R Neutral 3 0.368 PhD-SNP: F[S]=69% F[R]=13% Nali=15 S29R Unclassified NA NA PANTHER: F[S]=NA F[R]=NA S29R Neutral 8 0.123 SNPs&GO A30P Disease 3 0.642 PhD-SNP: F[A]=31% F[P]=0% Nali=15 A30P Unclassified NA NA PANTHER: F[A]=NA F[P]=NA A30P Neutral 5 0.244 SNPs&GO L34P Disease 4 0.703 PhD-SNP: F[L]=42% F[P]=0% Nali=11 L34P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L34P Neutral 4 0.301 SNPs&GO S35W Disease 2 0.586 PhD-SNP: F[S]=29% F[W]=0% Nali=13 S35W Unclassified NA NA PANTHER: F[S]=NA F[W]=NA S35W Neutral 5 0.226 SNPs&GO G38V Disease 2 0.583 PhD-SNP: F[G]=73% F[V]=0% Nali=14 G38V Unclassified NA NA PANTHER: F[G]=NA F[V]=NA G38V Neutral 2 0.381 SNPs&GO G38W Disease 4 0.714 PhD-SNP: F[G]=73% F[W]=0% Nali=14 G38W Unclassified NA NA PANTHER: F[G]=NA F[W]=NA G38W Neutral 1 0.454 SNPs&GO T39A Neutral 6 0.191 PhD-SNP: F[T]=61% F[A]=6% Nali=17 T39A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T39A Neutral 8 0.106 SNPs&GO T39I Neutral 2 0.418 PhD-SNP: F[T]=61% F[I]=6% Nali=17 T39I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T39I Neutral 6 0.179 SNPs&GO A44V Neutral 8 0.085 PhD-SNP: F[A]=24% F[V]=18% Nali=16 A44V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A44V Neutral 9 0.064 SNPs&GO A45T Neutral 1 0.426 PhD-SNP: F[A]=44% F[T]=0% Nali=17 A45T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A45T Neutral 6 0.200 SNPs&GO W51G Disease 7 0.830 PhD-SNP: F[W]=71% F[G]=0% Nali=16 W51G Unclassified NA NA PANTHER: F[W]=NA F[G]=NA W51G Disease 1 0.568 SNPs&GO A52E Disease 4 0.699 PhD-SNP: F[A]=44% F[E]=0% Nali=17 A52E Unclassified NA NA PANTHER: F[A]=NA F[E]=NA A52E Disease 0 0.515 SNPs&GO Q61H Neutral 3 0.349 PhD-SNP: F[Q]=31% F[H]=0% Nali=28 Q61H Unclassified NA NA PANTHER: F[Q]=NA F[H]=NA Q61H Neutral 8 0.096 SNPs&GO R63I Disease 2 0.587 PhD-SNP: F[R]=38% F[I]=0% Nali=39 R63I Unclassified NA NA PANTHER: F[R]=NA F[I]=NA R63I Neutral 6 0.198 SNPs&GO C67Y Disease 6 0.777 PhD-SNP: F[C]=77% F[Y]=0% Nali=46 C67Y Unclassified NA NA PANTHER: F[C]=NA F[Y]=NA C67Y Neutral 2 0.417 SNPs&GO S70Y Neutral 5 0.228 PhD-SNP: F[S]=29% F[Y]=0% Nali=57 S70Y Unclassified NA NA PANTHER: F[S]=NA F[Y]=NA S70Y Neutral 9 0.059 SNPs&GO G71R Neutral 7 0.165 PhD-SNP: F[G]=34% F[R]=5% Nali=55 G71R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G71R Neutral 9 0.059 SNPs&GO R72C Neutral 3 0.348 PhD-SNP: F[R]=22% F[C]=4% Nali=66 R72C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R72C Neutral 7 0.161 SNPs&GO D81Y Neutral 3 0.367 PhD-SNP: F[D]=47% F[Y]=1% Nali=121 D81Y Unclassified NA NA PANTHER: F[D]=NA F[Y]=NA D81Y Neutral 8 0.090 SNPs&GO P82L Neutral 8 0.089 PhD-SNP: F[P]=40% F[L]=5% Nali=128 P82L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P82L Neutral 9 0.038 SNPs&GO P85L Neutral 7 0.134 PhD-SNP: F[P]=47% F[L]=2% Nali=173 P85L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P85L Neutral 9 0.050 SNPs&GO P85Q Neutral 7 0.153 PhD-SNP: F[P]=47% F[Q]=3% Nali=173 P85Q Unclassified NA NA PANTHER: F[P]=NA F[Q]=NA P85Q Neutral 9 0.054 SNPs&GO P85S Neutral 7 0.140 PhD-SNP: F[P]=47% F[S]=2% Nali=173 P85S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P85S Neutral 9 0.043 SNPs&GO G86R Neutral 6 0.186 PhD-SNP: F[G]=33% F[R]=5% Nali=209 G86R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G86R Neutral 8 0.081 SNPs&GO C88W Disease 4 0.692 PhD-SNP: F[C]=89% F[W]=0% Nali=357 C88W Disease 10 0.990 PANTHER: F[C]=93% F[W]=0% C88W Disease 6 0.813 SNPs&GO G89S Disease 0 0.520 PhD-SNP: F[G]=90% F[S]=4% Nali=362 G89S Disease 3 0.669 PANTHER: F[G]=79% F[S]=5% G89S Disease 2 0.603 SNPs&GO R91G Neutral 2 0.391 PhD-SNP: F[R]=57% F[G]=1% Nali=369 R91G Neutral 4 0.319 PANTHER: F[R]=8% F[G]=3% R91G Neutral 8 0.076 SNPs&GO T99M Neutral 6 0.214 PhD-SNP: F[T]=33% F[M]=1% Nali=352 T99M Disease 0 0.524 PANTHER: F[T]=6% F[M]=1% T99M Neutral 8 0.090 SNPs&GO R104G Disease 6 0.778 PhD-SNP: F[R]=85% F[G]=0% Nali=1001 R104G Disease 8 0.916 PANTHER: F[R]=66% F[G]=0% R104G Disease 4 0.694 SNPs&GO R104H Disease 6 0.785 PhD-SNP: F[R]=85% F[H]=0% Nali=1001 R104H Disease 8 0.888 PANTHER: F[R]=66% F[H]=1% R104H Disease 4 0.724 SNPs&GO R104L Disease 7 0.875 PhD-SNP: F[R]=85% F[L]=0% Nali=1001 R104L Disease 8 0.891 PANTHER: F[R]=66% F[L]=1% R104L Disease 7 0.834 SNPs&GO R104S Disease 7 0.859 PhD-SNP: F[R]=85% F[S]=0% Nali=1001 R104S Disease 8 0.881 PANTHER: F[R]=66% F[S]=1% R104S Disease 6 0.804 SNPs&GO I105L Disease 1 0.566 PhD-SNP: F[I]=89% F[L]=1% Nali=1036 I105L Disease 2 0.620 PANTHER: F[I]=67% F[L]=6% I105L Disease 1 0.549 SNPs&GO I105S Disease 7 0.873 PhD-SNP: F[I]=89% F[S]=0% Nali=1036 I105S Disease 9 0.945 PANTHER: F[I]=67% F[S]=0% I105S Disease 7 0.852 SNPs&GO V106A Disease 1 0.539 PhD-SNP: F[V]=75% F[A]=2% Nali=1041 V106A Disease 4 0.694 PANTHER: F[V]=67% F[A]=4% V106A Disease 2 0.591 SNPs&GO V106E Disease 7 0.837 PhD-SNP: F[V]=75% F[E]=0% Nali=1041 V106E Disease 9 0.954 PANTHER: F[V]=67% F[E]=0% V106E Disease 8 0.886 SNPs&GO V106G Disease 5 0.725 PhD-SNP: F[V]=75% F[G]=0% Nali=1041 V106G Disease 9 0.946 PANTHER: F[V]=67% F[G]=0% V106G Disease 5 0.736 SNPs&GO V106L Disease 1 0.550 PhD-SNP: F[V]=75% F[L]=3% Nali=1041 V106L Disease 4 0.707 PANTHER: F[V]=67% F[L]=4% V106L Disease 4 0.687 SNPs&GO G107A Disease 3 0.663 PhD-SNP: F[G]=92% F[A]=0% Nali=1041 G107A Disease 9 0.944 PANTHER: F[G]=95% F[A]=0% G107A Disease 5 0.757 SNPs&GO G107E Disease 6 0.802 PhD-SNP: F[G]=92% F[E]=0% Nali=1041 G107E Disease 9 0.975 PANTHER: F[G]=95% F[E]=0% G107E Disease 7 0.851 SNPs&GO G107R Disease 6 0.784 PhD-SNP: F[G]=92% F[R]=0% Nali=1041 G107R Disease 10 0.979 PANTHER: F[G]=95% F[R]=0% G107R Disease 6 0.803 SNPs&GO G107V Disease 7 0.836 PhD-SNP: F[G]=92% F[V]=0% Nali=1041 G107V Disease 10 0.979 PANTHER: F[G]=95% F[V]=0% G107V Disease 7 0.825 SNPs&GO G108D Disease 6 0.792 PhD-SNP: F[G]=99% F[D]=0% Nali=1042 G108D Disease 10 0.999 PANTHER: F[G]=99% F[D]=0% G108D Disease 6 0.800 SNPs&GO G108R Disease 5 0.746 PhD-SNP: F[G]=99% F[R]=0% Nali=1042 G108R Disease 10 0.999 PANTHER: F[G]=99% F[R]=0% G108R Disease 6 0.790 SNPs&GO G108S Disease 5 0.730 PhD-SNP: F[G]=99% F[S]=0% Nali=1042 G108S Disease 10 0.999 PANTHER: F[G]=99% F[S]=0% G108S Disease 5 0.765 SNPs&GO S109G Neutral 8 0.118 PhD-SNP: F[S]=12% F[G]=1% Nali=1043 S109G Neutral 3 0.359 PANTHER: F[S]=6% F[G]=2% S109G Neutral 9 0.064 SNPs&GO A111G Neutral 3 0.372 PhD-SNP: F[A]=61% F[G]=0% Nali=1044 A111G Disease 5 0.744 PANTHER: F[A]=40% F[G]=2% A111G Neutral 4 0.276 SNPs&GO A111T Neutral 3 0.331 PhD-SNP: F[A]=61% F[T]=8% Nali=1044 A111T Neutral 5 0.247 PANTHER: F[A]=40% F[T]=25% A111T Neutral 8 0.100 SNPs&GO A111V Neutral 0 0.492 PhD-SNP: F[A]=61% F[V]=3% Nali=1044 A111V Disease 0 0.522 PANTHER: F[A]=40% F[V]=6% A111V Neutral 4 0.304 SNPs&GO G114E Disease 6 0.776 PhD-SNP: F[G]=67% F[E]=2% Nali=1048 G114E Neutral 1 0.453 PANTHER: F[G]=27% F[E]=6% G114E Disease 2 0.609 SNPs&GO G114R Disease 5 0.773 PhD-SNP: F[G]=67% F[R]=2% Nali=1048 G114R Disease 2 0.614 PANTHER: F[G]=27% F[R]=2% G114R Disease 3 0.636 SNPs&GO G114V Disease 6 0.797 PhD-SNP: F[G]=67% F[V]=0% Nali=1048 G114V Disease 5 0.732 PANTHER: F[G]=27% F[V]=1% G114V Disease 3 0.661 SNPs&GO W116C Disease 6 0.798 PhD-SNP: F[W]=68% F[C]=1% Nali=1049 W116C Disease 8 0.924 PANTHER: F[W]=27% F[C]=0% W116C Disease 2 0.606 SNPs&GO W116L Disease 3 0.644 PhD-SNP: F[W]=68% F[L]=1% Nali=1049 W116L Disease 3 0.662 PANTHER: F[W]=27% F[L]=2% W116L Neutral 1 0.467 SNPs&GO W116R Disease 6 0.780 PhD-SNP: F[W]=68% F[R]=0% Nali=1049 W116R Disease 8 0.887 PANTHER: F[W]=27% F[R]=0% W116R Disease 3 0.641 SNPs&GO P117A Disease 0 0.507 PhD-SNP: F[P]=98% F[A]=0% Nali=1053 P117A Disease 5 0.739 PANTHER: F[P]=76% F[A]=4% P117A Neutral 1 0.472 SNPs&GO P117S Disease 2 0.592 PhD-SNP: F[P]=98% F[S]=0% Nali=1053 P117S Disease 4 0.713 PANTHER: F[P]=76% F[S]=4% P117S Neutral 1 0.460 SNPs&GO W118L Disease 4 0.698 PhD-SNP: F[W]=87% F[L]=0% Nali=1052 W118L Disease 7 0.875 PANTHER: F[W]=77% F[L]=1% W118L Disease 3 0.651 SNPs&GO L119P Disease 5 0.765 PhD-SNP: F[L]=6% F[P]=0% Nali=1050 L119P Disease 3 0.625 PANTHER: F[L]=8% F[P]=0% L119P Disease 1 0.546 SNPs&GO V120L Neutral 2 0.422 PhD-SNP: F[V]=59% F[L]=1% Nali=1051 V120L Disease 2 0.581 PANTHER: F[V]=33% F[L]=4% V120L Neutral 3 0.357 SNPs&GO V120M Neutral 2 0.422 PhD-SNP: F[V]=59% F[M]=0% Nali=1051 V120M Disease 6 0.802 PANTHER: F[V]=33% F[M]=1% V120M Neutral 4 0.286 SNPs&GO R121W Neutral 1 0.449 PhD-SNP: F[R]=4% F[W]=0% Nali=1053 R121W Disease 3 0.630 PANTHER: F[R]=4% F[W]=0% R121W Neutral 6 0.199 SNPs&GO L122M Neutral 2 0.382 PhD-SNP: F[L]=79% F[M]=2% Nali=1053 L122M Disease 6 0.790 PANTHER: F[L]=55% F[M]=2% L122M Neutral 5 0.242 SNPs&GO G126E Disease 6 0.779 PhD-SNP: F[G]=52% F[E]=2% Nali=1034 G126E Disease 1 0.541 PANTHER: F[G]=35% F[E]=5% G126E Disease 3 0.635 SNPs&GO G126R Disease 5 0.731 PhD-SNP: F[G]=52% F[R]=4% Nali=1034 G126R Disease 1 0.546 PANTHER: F[G]=35% F[R]=5% G126R Disease 1 0.528 SNPs&GO G126V Disease 5 0.757 PhD-SNP: F[G]=52% F[V]=0% Nali=1034 G126V Disease 5 0.735 PANTHER: F[G]=35% F[V]=2% G126V Disease 3 0.661 SNPs&GO G126W Disease 7 0.835 PhD-SNP: F[G]=52% F[W]=0% Nali=1034 G126W Disease 9 0.949 PANTHER: F[G]=35% F[W]=0% G126W Disease 3 0.666 SNPs&GO L129P Disease 5 0.754 PhD-SNP: F[L]=13% F[P]=0% Nali=1053 L129P Neutral 1 0.455 PANTHER: F[L]=5% F[P]=1% L129P Neutral 1 0.443 SNPs&GO C130W Disease 8 0.919 PhD-SNP: F[C]=100% F[W]=0% Nali=1056 C130W Disease 10 1.000 PANTHER: F[C]=99% F[W]=0% C130W Disease 7 0.831 SNPs&GO G131D Disease 8 0.899 PhD-SNP: F[G]=94% F[D]=0% Nali=1056 G131D Disease 9 0.930 PANTHER: F[G]=78% F[D]=0% G131D Disease 7 0.833 SNPs&GO G131R Disease 8 0.894 PhD-SNP: F[G]=94% F[R]=0% Nali=1056 G131R Disease 9 0.951 PANTHER: F[G]=78% F[R]=0% G131R Disease 6 0.818 SNPs&GO G131S Disease 7 0.842 PhD-SNP: F[G]=94% F[S]=1% Nali=1056 G131S Disease 4 0.707 PANTHER: F[G]=78% F[S]=5% G131S Disease 5 0.730 SNPs&GO G132C Disease 8 0.908 PhD-SNP: F[G]=76% F[C]=1% Nali=1055 G132C Disease 9 0.947 PANTHER: F[G]=76% F[C]=0% G132C Disease 7 0.836 SNPs&GO G132R Disease 8 0.884 PhD-SNP: F[G]=76% F[R]=0% Nali=1055 G132R Disease 9 0.954 PANTHER: F[G]=76% F[R]=0% G132R Disease 6 0.824 SNPs&GO A136V Neutral 2 0.388 PhD-SNP: F[A]=13% F[V]=0% Nali=1056 A136V Neutral 3 0.341 PANTHER: F[A]=3% F[V]=1% A136V Neutral 7 0.137 SNPs&GO W139G Disease 8 0.909 PhD-SNP: F[W]=84% F[G]=0% Nali=1057 W139G Disease 8 0.911 PANTHER: F[W]=24% F[G]=0% W139G Disease 4 0.687 SNPs&GO W139R Disease 8 0.921 PhD-SNP: F[W]=84% F[R]=0% Nali=1057 W139R Disease 8 0.900 PANTHER: F[W]=24% F[R]=0% W139R Disease 6 0.814 SNPs&GO V140M Disease 4 0.700 PhD-SNP: F[V]=59% F[M]=0% Nali=1059 V140M Disease 7 0.863 PANTHER: F[V]=54% F[M]=1% V140M Disease 2 0.601 SNPs&GO L141P Disease 8 0.900 PhD-SNP: F[L]=57% F[P]=0% Nali=1059 L141P Disease 9 0.936 PANTHER: F[L]=42% F[P]=0% L141P Disease 7 0.853 SNPs&GO T142K Disease 8 0.884 PhD-SNP: F[T]=76% F[K]=0% Nali=1059 T142K Disease 9 0.940 PANTHER: F[T]=80% F[K]=0% T142K Disease 6 0.788 SNPs&GO T142P Disease 7 0.865 PhD-SNP: F[T]=76% F[P]=0% Nali=1059 T142P Disease 9 0.926 PANTHER: F[T]=80% F[P]=0% T142P Disease 5 0.773 SNPs&GO A143T Disease 7 0.847 PhD-SNP: F[A]=97% F[T]=0% Nali=1059 A143T Disease 7 0.842 PANTHER: F[A]=81% F[T]=2% A143T Disease 6 0.791 SNPs&GO A144G Disease 5 0.747 PhD-SNP: F[A]=92% F[G]=2% Nali=1059 A144G Disease 1 0.549 PANTHER: F[A]=73% F[G]=10% A144G Neutral 0 0.480 SNPs&GO H145P Disease 8 0.906 PhD-SNP: F[H]=99% F[P]=0% Nali=1059 H145P Disease 10 1.000 PANTHER: F[H]=99% F[P]=0% H145P Disease 6 0.821 SNPs&GO H145Y Disease 8 0.903 PhD-SNP: F[H]=99% F[Y]=0% Nali=1059 H145Y Disease 10 1.000 PANTHER: F[H]=99% F[Y]=0% H145Y Disease 7 0.830 SNPs&GO C146R Disease 9 0.942 PhD-SNP: F[C]=100% F[R]=0% Nali=1058 C146R Disease 10 0.999 PANTHER: F[C]=99% F[R]=0% C146R Disease 8 0.877 SNPs&GO C146Y Disease 9 0.952 PhD-SNP: F[C]=100% F[Y]=0% Nali=1058 C146Y Disease 10 0.999 PANTHER: F[C]=99% F[Y]=0% C146Y Disease 8 0.879 SNPs&GO G149C Disease 5 0.775 PhD-SNP: F[G]=30% F[C]=0% Nali=998 G149C Disease 6 0.811 PANTHER: F[G]=10% F[C]=0% G149C Disease 3 0.629 SNPs&GO L160P Disease 6 0.812 PhD-SNP: F[L]=48% F[P]=0% Nali=1052 L160P Disease 9 0.942 PANTHER: F[L]=60% F[P]=0% L160P Disease 7 0.833 SNPs&GO A161S Neutral 5 0.274 PhD-SNP: F[A]=6% F[S]=3% Nali=1033 A161S Neutral 6 0.219 PANTHER: F[A]=3% F[S]=2% A161S Neutral 8 0.077 SNPs&GO A161T Neutral 6 0.217 PhD-SNP: F[A]=6% F[T]=4% Nali=1033 A161T Neutral 5 0.232 PANTHER: F[A]=3% F[T]=2% A161T Neutral 9 0.071 SNPs&GO S164F Neutral 4 0.290 PhD-SNP: F[S]=20% F[F]=1% Nali=1046 S164F Disease 4 0.716 PANTHER: F[S]=13% F[F]=0% S164F Neutral 3 0.367 SNPs&GO V174E Disease 7 0.834 PhD-SNP: F[V]=66% F[E]=0% Nali=1038 V174E Disease 9 0.954 PANTHER: F[V]=49% F[E]=0% V174E Disease 6 0.795 SNPs&GO V174G Disease 5 0.728 PhD-SNP: F[V]=66% F[G]=0% Nali=1038 V174G Disease 9 0.954 PANTHER: F[V]=49% F[G]=0% V174G Disease 2 0.588 SNPs&GO V174M Disease 2 0.601 PhD-SNP: F[V]=66% F[M]=0% Nali=1038 V174M Disease 7 0.851 PANTHER: F[V]=49% F[M]=1% V174M Neutral 0 0.477 SNPs&GO R176C Disease 2 0.600 PhD-SNP: F[R]=31% F[C]=0% Nali=1053 R176C Disease 8 0.906 PANTHER: F[R]=29% F[C]=0% R176C Disease 0 0.511 SNPs&GO R176G Neutral 2 0.407 PhD-SNP: F[R]=31% F[G]=1% Nali=1053 R176G Disease 4 0.688 PANTHER: F[R]=29% F[G]=2% R176G Neutral 4 0.310 SNPs&GO R176H Neutral 3 0.365 PhD-SNP: F[R]=31% F[H]=2% Nali=1053 R176H Disease 4 0.723 PANTHER: F[R]=29% F[H]=1% R176H Neutral 4 0.310 SNPs&GO R176S Neutral 2 0.416 PhD-SNP: F[R]=31% F[S]=5% Nali=1053 R176S Disease 0 0.517 PANTHER: F[R]=29% F[S]=4% R176S Neutral 5 0.248 SNPs&GO I177T Disease 3 0.646 PhD-SNP: F[I]=54% F[T]=2% Nali=1053 I177T Neutral 3 0.361 PANTHER: F[I]=13% F[T]=4% I177T Neutral 5 0.265 SNPs&GO P179L Neutral 8 0.096 PhD-SNP: F[P]=8% F[L]=12% Nali=1051 P179L Neutral 5 0.266 PANTHER: F[P]=3% F[L]=5% P179L Neutral 9 0.028 SNPs&GO H180Q Disease 5 0.751 PhD-SNP: F[H]=83% F[Q]=1% Nali=1057 H180Q Disease 8 0.911 PANTHER: F[H]=80% F[Q]=1% H180Q Disease 5 0.756 SNPs&GO H180Y Disease 6 0.780 PhD-SNP: F[H]=83% F[Y]=2% Nali=1057 H180Y Disease 8 0.897 PANTHER: F[H]=80% F[Y]=1% H180Y Disease 6 0.779 SNPs&GO K182M Neutral 6 0.191 PhD-SNP: F[K]=17% F[M]=0% Nali=1054 K182M Disease 3 0.648 PANTHER: F[K]=11% F[M]=1% K182M Neutral 8 0.105 SNPs&GO F183C Disease 6 0.821 PhD-SNP: F[F]=24% F[C]=0% Nali=1041 F183C Disease 9 0.960 PANTHER: F[F]=35% F[C]=0% F183C Disease 4 0.697 SNPs&GO D184N Neutral 7 0.158 PhD-SNP: F[D]=24% F[N]=34% Nali=1038 D184N Neutral 6 0.207 PANTHER: F[D]=18% F[N]=21% D184N Neutral 9 0.061 SNPs&GO P185L Neutral 4 0.275 PhD-SNP: F[P]=21% F[L]=3% Nali=1031 P185L Neutral 1 0.454 PANTHER: F[P]=16% F[L]=3% P185L Neutral 7 0.132 SNPs&GO P185T Neutral 7 0.160 PhD-SNP: F[P]=21% F[T]=6% Nali=1031 P185T Neutral 2 0.401 PANTHER: F[P]=16% F[T]=4% P185T Neutral 9 0.058 SNPs&GO R186P Disease 1 0.545 PhD-SNP: F[R]=12% F[P]=4% Nali=1027 R186P Disease 2 0.622 PANTHER: F[R]=13% F[P]=1% R186P Neutral 1 0.471 SNPs&GO R186W Neutral 2 0.385 PhD-SNP: F[R]=12% F[W]=2% Nali=1027 R186W Disease 7 0.871 PANTHER: F[R]=13% F[W]=0% R186W Neutral 4 0.294 SNPs&GO T187I Neutral 0 0.497 PhD-SNP: F[T]=42% F[I]=2% Nali=1030 T187I Disease 3 0.652 PANTHER: F[T]=14% F[I]=1% T187I Neutral 6 0.215 SNPs&GO F188C Disease 2 0.582 PhD-SNP: F[F]=14% F[C]=0% Nali=1030 F188C Disease 5 0.770 PANTHER: F[F]=22% F[C]=1% F188C Neutral 0 0.499 SNPs&GO H189L Disease 0 0.519 PhD-SNP: F[H]=6% F[L]=0% Nali=1040 H189L Neutral 3 0.359 PANTHER: F[H]=6% F[L]=2% H189L Neutral 5 0.235 SNPs&GO H189Y Neutral 1 0.432 PhD-SNP: F[H]=6% F[Y]=3% Nali=1040 H189Y Neutral 6 0.183 PANTHER: F[H]=6% F[Y]=6% H189Y Neutral 8 0.078 SNPs&GO D191A Disease 7 0.863 PhD-SNP: F[D]=99% F[A]=0% Nali=1059 D191A Disease 9 0.953 PANTHER: F[D]=92% F[A]=0% D191A Disease 7 0.832 SNPs&GO D191Y Disease 9 0.941 PhD-SNP: F[D]=99% F[Y]=0% Nali=1059 D191Y Disease 10 0.986 PANTHER: F[D]=92% F[Y]=0% D191Y Disease 8 0.880 SNPs&GO L192P Disease 8 0.892 PhD-SNP: F[L]=9% F[P]=0% Nali=1060 L192P Disease 8 0.903 PANTHER: F[L]=18% F[P]=0% L192P Disease 7 0.859 SNPs&GO A193S Disease 2 0.611 PhD-SNP: F[A]=80% F[S]=6% Nali=1060 A193S Disease 5 0.743 PANTHER: F[A]=82% F[S]=4% A193S Disease 2 0.605 SNPs&GO A193T Disease 3 0.647 PhD-SNP: F[A]=80% F[T]=4% Nali=1060 A193T Disease 7 0.842 PANTHER: F[A]=82% F[T]=2% A193T Disease 4 0.680 SNPs&GO A193V Disease 4 0.699 PhD-SNP: F[A]=80% F[V]=1% Nali=1060 A193V Disease 8 0.908 PANTHER: F[A]=82% F[V]=1% A193V Disease 4 0.700 SNPs&GO L194V Neutral 2 0.398 PhD-SNP: F[L]=82% F[V]=9% Nali=1060 L194V Neutral 2 0.380 PANTHER: F[L]=49% F[V]=15% L194V Neutral 7 0.156 SNPs&GO Q196H Neutral 2 0.379 PhD-SNP: F[Q]=16% F[H]=6% Nali=1060 Q196H Neutral 3 0.330 PANTHER: F[Q]=4% F[H]=1% Q196H Neutral 7 0.134 SNPs&GO Q196P Disease 6 0.813 PhD-SNP: F[Q]=16% F[P]=0% Nali=1060 Q196P Neutral 3 0.371 PANTHER: F[Q]=4% F[P]=1% Q196P Neutral 0 0.479 SNPs&GO L197M Disease 1 0.551 PhD-SNP: F[L]=89% F[M]=2% Nali=1060 L197M Disease 2 0.577 PANTHER: F[L]=72% F[M]=9% L197M Neutral 5 0.261 SNPs&GO L197P Disease 7 0.840 PhD-SNP: F[L]=89% F[P]=0% Nali=1060 L197P Disease 9 0.974 PANTHER: F[L]=72% F[P]=0% L197P Disease 5 0.769 SNPs&GO V201M Neutral 3 0.337 PhD-SNP: F[V]=47% F[M]=2% Nali=1056 V201M Disease 4 0.716 PANTHER: F[V]=48% F[M]=3% V201M Neutral 3 0.339 SNPs&GO G204R Neutral 1 0.438 PhD-SNP: F[G]=12% F[R]=0% Nali=1049 G204R Neutral 6 0.219 PANTHER: F[G]=4% F[R]=5% G204R Neutral 7 0.126 SNPs&GO G204V Neutral 2 0.378 PhD-SNP: F[G]=12% F[V]=0% Nali=1049 G204V Neutral 5 0.246 PANTHER: F[G]=4% F[V]=2% G204V Neutral 8 0.084 SNPs&GO R208P Disease 1 0.568 PhD-SNP: F[R]=23% F[P]=0% Nali=1057 R208P Disease 2 0.620 PANTHER: F[R]=11% F[P]=1% R208P Neutral 1 0.455 SNPs&GO P209S Neutral 2 0.415 PhD-SNP: F[P]=76% F[S]=2% Nali=1058 P209S Disease 9 0.968 PANTHER: F[P]=96% F[S]=0% P209S Disease 2 0.600 SNPs&GO V210L Neutral 6 0.206 PhD-SNP: F[V]=51% F[L]=2% Nali=1059 V210L Disease 2 0.603 PANTHER: F[V]=37% F[L]=4% V210L Neutral 5 0.269 SNPs&GO V210M Neutral 5 0.258 PhD-SNP: F[V]=51% F[M]=0% Nali=1059 V210M Disease 6 0.820 PANTHER: F[V]=37% F[M]=1% V210M Neutral 5 0.274 SNPs&GO C211F Disease 4 0.715 PhD-SNP: F[C]=88% F[F]=0% Nali=1056 C211F Disease 10 0.985 PANTHER: F[C]=95% F[F]=0% C211F Disease 5 0.773 SNPs&GO C211G Disease 1 0.529 PhD-SNP: F[C]=88% F[G]=0% Nali=1056 C211G Disease 9 0.954 PANTHER: F[C]=95% F[G]=0% C211G Disease 3 0.662 SNPs&GO C211R Disease 3 0.658 PhD-SNP: F[C]=88% F[R]=1% Nali=1056 C211R Disease 10 0.982 PANTHER: F[C]=95% F[R]=0% C211R Disease 5 0.750 SNPs&GO C211S Disease 2 0.607 PhD-SNP: F[C]=88% F[S]=2% Nali=1056 C211S Disease 9 0.958 PANTHER: F[C]=95% F[S]=0% C211S Disease 3 0.658 SNPs&GO C211Y Disease 4 0.704 PhD-SNP: F[C]=88% F[Y]=0% Nali=1056 C211Y Disease 10 0.988 PANTHER: F[C]=95% F[Y]=0% C211Y Disease 5 0.762 SNPs&GO L212P Disease 3 0.629 PhD-SNP: F[L]=90% F[P]=0% Nali=1055 L212P Disease 9 0.972 PANTHER: F[L]=69% F[P]=0% L212P Disease 3 0.634 SNPs&GO L212Q Disease 3 0.637 PhD-SNP: F[L]=90% F[Q]=0% Nali=1055 L212Q Disease 9 0.962 PANTHER: F[L]=69% F[Q]=0% L212Q Disease 3 0.664 SNPs&GO P213L Neutral 1 0.472 PhD-SNP: F[P]=89% F[L]=0% Nali=1054 P213L Disease 9 0.947 PANTHER: F[P]=77% F[L]=0% P213L Disease 1 0.552 SNPs&GO P216H Neutral 9 0.068 PhD-SNP: F[P]=7% F[H]=0% Nali=1006 P216H Neutral 2 0.403 PANTHER: F[P]=6% F[H]=1% P216H Neutral 9 0.030 SNPs&GO G222R Disease 3 0.633 PhD-SNP: F[G]=64% F[R]=2% Nali=1054 G222R Disease 7 0.828 PANTHER: F[G]=59% F[R]=1% G222R Disease 4 0.714 SNPs&GO T223I Neutral 4 0.288 PhD-SNP: F[T]=38% F[I]=2% Nali=1056 T223I Neutral 1 0.431 PANTHER: F[T]=5% F[I]=1% T223I Neutral 8 0.100 SNPs&GO T223P Disease 1 0.535 PhD-SNP: F[T]=38% F[P]=0% Nali=1056 T223P Neutral 2 0.411 PANTHER: F[T]=5% F[P]=1% T223P Neutral 5 0.227 SNPs&GO C225W Disease 7 0.862 PhD-SNP: F[C]=72% F[W]=0% Nali=1046 C225W Disease 2 0.577 PANTHER: F[C]=0% F[W]=0% C225W Disease 1 0.542 SNPs&GO C225Y Disease 8 0.883 PhD-SNP: F[C]=72% F[Y]=0% Nali=1046 C225Y Neutral 3 0.342 PANTHER: F[C]=0% F[Y]=0% C225Y Neutral 0 0.497 SNPs&GO I227F Disease 4 0.723 PhD-SNP: F[I]=33% F[F]=0% Nali=1058 I227F Disease 4 0.713 PANTHER: F[I]=13% F[F]=0% I227F Disease 3 0.658 SNPs&GO G231D Disease 7 0.860 PhD-SNP: F[G]=99% F[D]=0% Nali=1057 G231D Disease 10 0.975 PANTHER: F[G]=95% F[D]=0% G231D Disease 6 0.817 SNPs&GO A232P Disease 4 0.710 PhD-SNP: F[A]=20% F[P]=0% Nali=1048 A232P Disease 1 0.541 PANTHER: F[A]=9% F[P]=1% A232P Disease 3 0.631 SNPs&GO A232T Neutral 6 0.192 PhD-SNP: F[A]=20% F[T]=10% Nali=1048 A232T Neutral 6 0.200 PANTHER: F[A]=9% F[T]=10% A232T Neutral 9 0.071 SNPs&GO L233F Disease 1 0.538 PhD-SNP: F[L]=27% F[F]=1% Nali=1044 L233F Disease 3 0.657 PANTHER: F[L]=22% F[F]=2% L233F Neutral 2 0.408 SNPs&GO D236V Disease 1 0.536 PhD-SNP: F[D]=16% F[V]=0% Nali=1040 D236V Disease 3 0.650 PANTHER: F[D]=10% F[V]=0% D236V Neutral 2 0.406 SNPs&GO G237E Disease 3 0.634 PhD-SNP: F[G]=58% F[E]=3% Nali=1047 G237E Disease 3 0.675 PANTHER: F[G]=43% F[E]=3% G237E Disease 4 0.696 SNPs&GO G237R Disease 4 0.677 PhD-SNP: F[G]=58% F[R]=1% Nali=1047 G237R Disease 5 0.739 PANTHER: F[G]=43% F[R]=2% G237R Disease 4 0.693 SNPs&GO E239K Neutral 6 0.196 PhD-SNP: F[E]=7% F[K]=6% Nali=1043 E239K Neutral 6 0.213 PANTHER: F[E]=8% F[K]=6% E239K Neutral 9 0.072 SNPs&GO A240G Neutral 5 0.257 PhD-SNP: F[A]=17% F[G]=3% Nali=1037 A240G Disease 1 0.545 PANTHER: F[A]=14% F[G]=2% A240G Neutral 6 0.179 SNPs&GO V243A Neutral 2 0.387 PhD-SNP: F[V]=5% F[A]=0% Nali=1059 V243A Neutral 2 0.393 PANTHER: F[V]=4% F[A]=1% V243A Neutral 6 0.189 SNPs&GO V243M Neutral 1 0.428 PhD-SNP: F[V]=5% F[M]=1% Nali=1059 V243M Neutral 5 0.255 PANTHER: F[V]=4% F[M]=2% V243M Neutral 8 0.086 SNPs&GO R244G Disease 1 0.550 PhD-SNP: F[R]=17% F[G]=0% Nali=1058 R244G Disease 1 0.561 PANTHER: F[R]=10% F[G]=1% R244G Neutral 3 0.335 SNPs&GO R244T Neutral 1 0.452 PhD-SNP: F[R]=17% F[T]=0% Nali=1058 R244T Neutral 1 0.449 PANTHER: F[R]=10% F[T]=2% R244T Neutral 5 0.269 SNPs&GO E245D Neutral 2 0.416 PhD-SNP: F[E]=43% F[D]=1% Nali=1058 E245D Disease 3 0.633 PANTHER: F[E]=37% F[D]=3% E245D Neutral 2 0.379 SNPs&GO E245G Neutral 1 0.460 PhD-SNP: F[E]=43% F[G]=1% Nali=1058 E245G Disease 5 0.734 PANTHER: F[E]=37% F[G]=2% E245G Neutral 2 0.407 SNPs&GO A246T Neutral 3 0.357 PhD-SNP: F[A]=49% F[T]=3% Nali=1058 A246T Neutral 1 0.439 PANTHER: F[A]=12% F[T]=3% A246T Neutral 6 0.190 SNPs&GO R247C Neutral 1 0.471 PhD-SNP: F[R]=10% F[C]=0% Nali=1057 R247C Disease 4 0.703 PANTHER: F[R]=5% F[C]=0% R247C Neutral 3 0.347 SNPs&GO R247G Neutral 4 0.310 PhD-SNP: F[R]=10% F[G]=2% Nali=1057 R247G Neutral 3 0.335 PANTHER: F[R]=5% F[G]=2% R247G Neutral 8 0.103 SNPs&GO R247H Neutral 6 0.185 PhD-SNP: F[R]=10% F[H]=1% Nali=1057 R247H Neutral 4 0.308 PANTHER: F[R]=5% F[H]=2% R247H Neutral 9 0.064 SNPs&GO V248D Disease 7 0.831 PhD-SNP: F[V]=71% F[D]=0% Nali=1057 V248D Disease 9 0.972 PANTHER: F[V]=54% F[D]=0% V248D Disease 6 0.823 SNPs&GO P249L Disease 0 0.517 PhD-SNP: F[P]=62% F[L]=1% Nali=1058 P249L Disease 7 0.837 PANTHER: F[P]=44% F[L]=1% P249L Neutral 2 0.406 SNPs&GO L251F Neutral 0 0.491 PhD-SNP: F[L]=24% F[F]=1% Nali=1058 L251F Neutral 1 0.454 PANTHER: F[L]=17% F[F]=3% L251F Neutral 6 0.186 SNPs&GO S252T Neutral 7 0.161 PhD-SNP: F[S]=38% F[T]=5% Nali=1051 S252T Neutral 5 0.267 PANTHER: F[S]=22% F[T]=12% S252T Neutral 9 0.026 SNPs&GO D254H Neutral 5 0.243 PhD-SNP: F[D]=17% F[H]=1% Nali=1044 D254H Disease 2 0.612 PANTHER: F[D]=17% F[H]=1% D254H Neutral 7 0.175 SNPs&GO D254V Neutral 3 0.346 PhD-SNP: F[D]=17% F[V]=0% Nali=1044 D254V Disease 2 0.600 PANTHER: F[D]=17% F[V]=1% D254V Neutral 5 0.234 SNPs&GO D254Y Neutral 2 0.397 PhD-SNP: F[D]=17% F[Y]=0% Nali=1044 D254Y Disease 4 0.724 PANTHER: F[D]=17% F[Y]=1% D254Y Neutral 3 0.328 SNPs&GO C256R Disease 7 0.863 PhD-SNP: F[C]=99% F[R]=0% Nali=1047 C256R Disease 10 1.000 PANTHER: F[C]=99% F[R]=0% C256R Disease 5 0.772 SNPs&GO C256Y Disease 8 0.879 PhD-SNP: F[C]=99% F[Y]=0% Nali=1047 C256Y Disease 10 1.000 PANTHER: F[C]=99% F[Y]=0% C256Y Disease 6 0.776 SNPs&GO R257G Neutral 3 0.353 PhD-SNP: F[R]=16% F[G]=1% Nali=1048 R257G Disease 1 0.564 PANTHER: F[R]=16% F[G]=2% R257G Neutral 6 0.221 SNPs&GO R257L Neutral 0 0.492 PhD-SNP: F[R]=16% F[L]=0% Nali=1048 R257L Neutral 0 0.499 PANTHER: F[R]=16% F[L]=3% R257L Neutral 3 0.326 SNPs&GO L260P Disease 4 0.709 PhD-SNP: F[L]=14% F[P]=0% Nali=1040 L260P Disease 1 0.560 PANTHER: F[L]=1% F[P]=0% L260P Neutral 1 0.430 SNPs&GO L260R Disease 2 0.587 PhD-SNP: F[L]=14% F[R]=2% Nali=1040 L260R Neutral 1 0.472 PANTHER: F[L]=1% F[R]=0% L260R Neutral 3 0.333 SNPs&GO G261E Neutral 1 0.439 PhD-SNP: F[G]=26% F[E]=1% Nali=970 G261E Neutral 6 0.198 PANTHER: F[G]=9% F[E]=8% G261E Neutral 8 0.117 SNPs&GO G261R Neutral 3 0.363 PhD-SNP: F[G]=26% F[R]=3% Nali=970 G261R Neutral 4 0.313 PANTHER: F[G]=9% F[R]=20% G261R Neutral 8 0.075 SNPs&GO G263W Disease 2 0.592 PhD-SNP: F[G]=41% F[W]=0% Nali=1027 G263W Disease 2 0.577 PANTHER: F[G]=2% F[W]=0% G263W Neutral 6 0.220 SNPs&GO L264P Disease 2 0.580 PhD-SNP: F[L]=14% F[P]=1% Nali=1030 L264P Disease 7 0.833 PANTHER: F[L]=9% F[P]=0% L264P Disease 1 0.556 SNPs&GO M269T Disease 5 0.750 PhD-SNP: F[M]=80% F[T]=1% Nali=1045 M269T Neutral 1 0.448 PANTHER: F[M]=23% F[T]=5% M269T Disease 1 0.532 SNPs&GO M269V Disease 4 0.688 PhD-SNP: F[M]=80% F[V]=2% Nali=1045 M269V Neutral 4 0.284 PANTHER: F[M]=23% F[V]=12% M269V Neutral 4 0.275 SNPs&GO A272D Disease 7 0.871 PhD-SNP: F[A]=93% F[D]=0% Nali=1050 A272D Disease 9 0.948 PANTHER: F[A]=81% F[D]=0% A272D Disease 5 0.741 SNPs&GO A272P Disease 6 0.815 PhD-SNP: F[A]=93% F[P]=0% Nali=1050 A272P Disease 8 0.923 PANTHER: F[A]=81% F[P]=0% A272P Disease 4 0.688 SNPs&GO A272T Disease 5 0.725 PhD-SNP: F[A]=93% F[T]=1% Nali=1050 A272T Disease 7 0.832 PANTHER: F[A]=81% F[T]=2% A272T Disease 3 0.659 SNPs&GO G273E Disease 7 0.831 PhD-SNP: F[G]=98% F[E]=0% Nali=1047 G273E Disease 10 0.977 PANTHER: F[G]=95% F[E]=0% G273E Disease 6 0.815 SNPs&GO G273R Disease 7 0.840 PhD-SNP: F[G]=98% F[R]=0% Nali=1047 G273R Disease 10 0.981 PANTHER: F[G]=95% F[R]=0% G273R Disease 6 0.784 SNPs&GO Y274N Disease 4 0.713 PhD-SNP: F[Y]=51% F[N]=2% Nali=999 Y274N Disease 4 0.677 PANTHER: F[Y]=27% F[N]=2% Y274N Disease 1 0.527 SNPs&GO G277E Disease 7 0.845 PhD-SNP: F[G]=90% F[E]=1% Nali=1050 G277E Disease 9 0.969 PANTHER: F[G]=94% F[E]=0% G277E Disease 7 0.838 SNPs&GO G277R Disease 7 0.870 PhD-SNP: F[G]=90% F[R]=0% Nali=1050 G277R Disease 9 0.975 PANTHER: F[G]=94% F[R]=0% G277R Disease 7 0.830 SNPs&GO G278D Disease 7 0.867 PhD-SNP: F[G]=66% F[D]=0% Nali=1051 G278D Disease 2 0.621 PANTHER: F[G]=36% F[D]=3% G278D Disease 5 0.770 SNPs&GO G278V Disease 7 0.844 PhD-SNP: F[G]=66% F[V]=0% Nali=1051 G278V Disease 5 0.760 PANTHER: F[G]=36% F[V]=1% G278V Disease 6 0.790 SNPs&GO D280G Disease 6 0.796 PhD-SNP: F[D]=94% F[G]=1% Nali=1055 D280G Disease 9 0.942 PANTHER: F[D]=92% F[G]=0% D280G Disease 6 0.793 SNPs&GO D280N Disease 6 0.803 PhD-SNP: F[D]=94% F[N]=1% Nali=1055 D280N Disease 9 0.935 PANTHER: F[D]=92% F[N]=0% D280N Disease 6 0.791 SNPs&GO D280V Disease 8 0.906 PhD-SNP: F[D]=94% F[V]=0% Nali=1055 D280V Disease 10 0.981 PANTHER: F[D]=92% F[V]=0% D280V Disease 8 0.880 SNPs&GO S281L Disease 4 0.701 PhD-SNP: F[S]=46% F[L]=0% Nali=1055 S281L Disease 8 0.922 PANTHER: F[S]=62% F[L]=0% S281L Disease 7 0.837 SNPs&GO S281P Disease 6 0.805 PhD-SNP: F[S]=46% F[P]=0% Nali=1055 S281P Disease 8 0.902 PANTHER: F[S]=62% F[P]=0% S281P Disease 8 0.907 SNPs&GO C282F Disease 8 0.918 PhD-SNP: F[C]=100% F[F]=0% Nali=1054 C282F Disease 10 1.000 PANTHER: F[C]=99% F[F]=0% C282F Disease 7 0.828 SNPs&GO Q283H Disease 4 0.700 PhD-SNP: F[Q]=75% F[H]=0% Nali=1057 Q283H Disease 5 0.768 PANTHER: F[Q]=35% F[H]=1% Q283H Disease 0 0.512 SNPs&GO Q283R Disease 4 0.720 PhD-SNP: F[Q]=75% F[R]=2% Nali=1057 Q283R Disease 2 0.617 PANTHER: F[Q]=35% F[R]=3% Q283R Disease 1 0.531 SNPs&GO G284D Disease 7 0.838 PhD-SNP: F[G]=98% F[D]=0% Nali=1056 G284D Disease 9 0.942 PANTHER: F[G]=81% F[D]=0% G284D Disease 6 0.816 SNPs&GO D285E Disease 4 0.693 PhD-SNP: F[D]=99% F[E]=0% Nali=1056 D285E Disease 8 0.897 PANTHER: F[D]=92% F[E]=1% D285E Disease 5 0.762 SNPs&GO D285N Disease 5 0.752 PhD-SNP: F[D]=99% F[N]=0% Nali=1056 D285N Disease 9 0.935 PANTHER: F[D]=92% F[N]=0% D285N Disease 5 0.750 SNPs&GO G287E Disease 6 0.785 PhD-SNP: F[G]=100% F[E]=0% Nali=1056 G287E Disease 10 0.977 PANTHER: F[G]=95% F[E]=0% G287E Disease 7 0.840 SNPs&GO G287R Disease 5 0.774 PhD-SNP: F[G]=100% F[R]=0% Nali=1056 G287R Disease 10 0.981 PANTHER: F[G]=95% F[R]=0% G287R Disease 6 0.809 SNPs&GO G288A Disease 2 0.616 PhD-SNP: F[G]=99% F[A]=0% Nali=1055 G288A Disease 9 0.949 PANTHER: F[G]=95% F[A]=0% G288A Disease 6 0.787 SNPs&GO G288D Disease 5 0.772 PhD-SNP: F[G]=99% F[D]=0% Nali=1055 G288D Disease 10 0.975 PANTHER: F[G]=95% F[D]=0% G288D Disease 6 0.809 SNPs&GO G288R Disease 5 0.735 PhD-SNP: F[G]=99% F[R]=0% Nali=1055 G288R Disease 10 0.981 PANTHER: F[G]=95% F[R]=0% G288R Disease 6 0.794 SNPs&GO G288S Disease 5 0.749 PhD-SNP: F[G]=99% F[S]=0% Nali=1055 G288S Disease 9 0.958 PANTHER: F[G]=95% F[S]=0% G288S Disease 6 0.813 SNPs&GO P289H Disease 3 0.649 PhD-SNP: F[P]=99% F[H]=0% Nali=1054 P289H Disease 10 0.989 PANTHER: F[P]=96% F[H]=0% P289H Disease 4 0.689 SNPs&GO P289R Disease 3 0.634 PhD-SNP: F[P]=99% F[R]=0% Nali=1054 P289R Disease 10 0.981 PANTHER: F[P]=96% F[R]=0% P289R Disease 4 0.702 SNPs&GO P289S Disease 3 0.633 PhD-SNP: F[P]=99% F[S]=0% Nali=1054 P289S Disease 9 0.967 PANTHER: F[P]=96% F[S]=0% P289S Disease 4 0.724 SNPs&GO P289T Disease 3 0.655 PhD-SNP: F[P]=99% F[T]=0% Nali=1054 P289T Disease 9 0.974 PANTHER: F[P]=96% F[T]=0% P289T Disease 4 0.712 SNPs&GO L290P Disease 3 0.651 PhD-SNP: F[L]=85% F[P]=0% Nali=1050 L290P Disease 10 0.975 PANTHER: F[L]=75% F[P]=0% L290P Disease 4 0.718 SNPs&GO L290V Neutral 4 0.307 PhD-SNP: F[L]=85% F[V]=5% Nali=1050 L290V Disease 6 0.795 PANTHER: F[L]=75% F[V]=2% L290V Neutral 1 0.430 SNPs&GO T291I Neutral 8 0.102 PhD-SNP: F[T]=4% F[I]=2% Nali=1039 T291I Neutral 5 0.248 PANTHER: F[T]=13% F[I]=8% T291I Neutral 10 0.024 SNPs&GO T291N Neutral 5 0.226 PhD-SNP: F[T]=4% F[N]=0% Nali=1039 T291N Disease 1 0.530 PANTHER: F[T]=13% F[N]=2% T291N Neutral 6 0.180 SNPs&GO C292R Disease 3 0.641 PhD-SNP: F[C]=72% F[R]=1% Nali=962 C292R Neutral 4 0.281 PANTHER: F[C]=1% F[R]=2% C292R Neutral 6 0.222 SNPs&GO C292S Disease 1 0.551 PhD-SNP: F[C]=72% F[S]=3% Nali=962 C292S Neutral 2 0.405 PANTHER: F[C]=1% F[S]=4% C292S Neutral 7 0.169 SNPs&GO C292Y Disease 3 0.661 PhD-SNP: F[C]=72% F[Y]=2% Nali=962 C292Y Neutral 5 0.269 PANTHER: F[C]=1% F[Y]=2% C292Y Neutral 6 0.195 SNPs&GO S293C Neutral 6 0.188 PhD-SNP: F[S]=6% F[C]=0% Nali=938 S293C Disease 5 0.750 PANTHER: F[S]=7% F[C]=0% S293C Neutral 6 0.210 SNPs&GO S293F Neutral 8 0.109 PhD-SNP: F[S]=6% F[F]=3% Nali=938 S293F Neutral 0 0.480 PANTHER: F[S]=7% F[F]=1% S293F Neutral 8 0.092 SNPs&GO G296R Disease 1 0.553 PhD-SNP: F[G]=44% F[R]=1% Nali=717 G296R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G296R Neutral 5 0.266 SNPs&GO P297L Neutral 9 0.063 PhD-SNP: F[P]=6% F[L]=2% Nali=607 P297L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P297L Neutral 9 0.045 SNPs&GO R298C Disease 1 0.554 PhD-SNP: F[R]=22% F[C]=0% Nali=713 R298C Disease 4 0.694 PANTHER: F[R]=6% F[C]=0% R298C Neutral 3 0.335 SNPs&GO V302D Disease 1 0.529 PhD-SNP: F[V]=20% F[D]=0% Nali=880 V302D Neutral 3 0.372 PANTHER: F[V]=8% F[D]=2% V302D Neutral 4 0.289 SNPs&GO G305R Disease 7 0.847 PhD-SNP: F[G]=100% F[R]=0% Nali=1051 G305R Disease 10 0.981 PANTHER: F[G]=95% F[R]=0% G305R Disease 6 0.805 SNPs&GO T307A Disease 1 0.529 PhD-SNP: F[T]=30% F[A]=0% Nali=1051 T307A Neutral 3 0.344 PANTHER: F[T]=4% F[A]=1% T307A Neutral 6 0.184 SNPs&GO W309C Disease 8 0.922 PhD-SNP: F[W]=84% F[C]=0% Nali=1051 W309C Disease 8 0.892 PANTHER: F[W]=39% F[C]=0% W309C Disease 6 0.776 SNPs&GO W309S Disease 8 0.921 PhD-SNP: F[W]=84% F[S]=0% Nali=1051 W309S Disease 5 0.766 PANTHER: F[W]=39% F[S]=1% W309S Disease 6 0.791 SNPs&GO G310A Disease 6 0.807 PhD-SNP: F[G]=98% F[A]=0% Nali=1050 G310A Disease 9 0.949 PANTHER: F[G]=95% F[A]=0% G310A Disease 7 0.849 SNPs&GO G310R Disease 7 0.871 PhD-SNP: F[G]=98% F[R]=0% Nali=1050 G310R Disease 10 0.981 PANTHER: F[G]=95% F[R]=0% G310R Disease 7 0.845 SNPs&GO D311N Neutral 5 0.256 PhD-SNP: F[D]=14% F[N]=4% Nali=1050 D311N Disease 1 0.526 PANTHER: F[D]=1% F[N]=6% D311N Neutral 7 0.166 SNPs&GO G312C Disease 8 0.923 PhD-SNP: F[G]=79% F[C]=0% Nali=1050 G312C Disease 9 0.949 PANTHER: F[G]=47% F[C]=0% G312C Disease 7 0.870 SNPs&GO G312D Disease 7 0.854 PhD-SNP: F[G]=79% F[D]=2% Nali=1050 G312D Disease 5 0.730 PANTHER: F[G]=47% F[D]=2% G312D Disease 6 0.787 SNPs&GO G312S Disease 6 0.776 PhD-SNP: F[G]=79% F[S]=4% Nali=1050 G312S Disease 2 0.621 PANTHER: F[G]=47% F[S]=4% G312S Disease 4 0.676 SNPs&GO G312V Disease 7 0.868 PhD-SNP: F[G]=79% F[V]=2% Nali=1050 G312V Disease 7 0.830 PANTHER: F[G]=47% F[V]=1% G312V Disease 6 0.823 SNPs&GO C313G Disease 7 0.833 PhD-SNP: F[C]=97% F[G]=0% Nali=1050 C313G Disease 10 0.998 PANTHER: F[C]=99% F[G]=0% C313G Disease 5 0.767 SNPs&GO C313R Disease 8 0.914 PhD-SNP: F[C]=97% F[R]=0% Nali=1050 C313R Disease 10 0.999 PANTHER: F[C]=99% F[R]=0% C313R Disease 7 0.860 SNPs&GO G314R Disease 6 0.819 PhD-SNP: F[G]=33% F[R]=0% Nali=1050 G314R Disease 8 0.923 PANTHER: F[G]=42% F[R]=0% G314R Disease 7 0.874 SNPs&GO G314V Disease 6 0.797 PhD-SNP: F[G]=33% F[V]=0% Nali=1050 G314V Disease 7 0.855 PANTHER: F[G]=42% F[V]=1% G314V Disease 7 0.825 SNPs&GO E315D Neutral 6 0.176 PhD-SNP: F[E]=14% F[D]=4% Nali=1050 E315D Neutral 2 0.407 PANTHER: F[E]=12% F[D]=3% E315D Neutral 8 0.123 SNPs&GO P316A Neutral 6 0.187 PhD-SNP: F[P]=43% F[A]=17% Nali=1047 P316A Neutral 5 0.227 PANTHER: F[P]=16% F[A]=12% P316A Neutral 9 0.049 SNPs&GO P316L Neutral 1 0.436 PhD-SNP: F[P]=43% F[L]=1% Nali=1047 P316L Disease 2 0.584 PANTHER: F[P]=16% F[L]=2% P316L Neutral 5 0.250 SNPs&GO G317E Disease 2 0.594 PhD-SNP: F[G]=18% F[E]=3% Nali=1049 G317E Neutral 6 0.189 PANTHER: F[G]=9% F[E]=9% G317E Neutral 5 0.229 SNPs&GO G317R Disease 1 0.537 PhD-SNP: F[G]=18% F[R]=4% Nali=1049 G317R Neutral 4 0.301 PANTHER: F[G]=9% F[R]=4% G317R Neutral 5 0.274 SNPs&GO K318Q Neutral 4 0.311 PhD-SNP: F[K]=33% F[Q]=3% Nali=1049 K318Q Neutral 2 0.386 PANTHER: F[K]=2% F[Q]=6% K318Q Neutral 8 0.123 SNPs&GO P319R Disease 8 0.876 PhD-SNP: F[P]=91% F[R]=0% Nali=1049 P319R Disease 10 0.981 PANTHER: F[P]=96% F[R]=0% P319R Disease 6 0.790 SNPs&GO G320A Disease 5 0.775 PhD-SNP: F[G]=96% F[A]=2% Nali=1049 G320A Disease 9 0.949 PANTHER: F[G]=95% F[A]=0% G320A Disease 6 0.794 SNPs&GO G320E Disease 8 0.878 PhD-SNP: F[G]=96% F[E]=0% Nali=1049 G320E Disease 10 0.977 PANTHER: F[G]=95% F[E]=0% G320E Disease 7 0.855 SNPs&GO G320R Disease 8 0.885 PhD-SNP: F[G]=96% F[R]=0% Nali=1049 G320R Disease 10 0.981 PANTHER: F[G]=95% F[R]=0% G320R Disease 7 0.839 SNPs&GO V321F Disease 8 0.890 PhD-SNP: F[V]=88% F[F]=0% Nali=1048 V321F Disease 8 0.912 PANTHER: F[V]=63% F[F]=0% V321F Disease 6 0.818 SNPs&GO V321I Neutral 4 0.290 PhD-SNP: F[V]=88% F[I]=11% Nali=1048 V321I Neutral 3 0.346 PANTHER: F[V]=63% F[I]=23% V321I Neutral 8 0.123 SNPs&GO V321L Disease 4 0.713 PhD-SNP: F[V]=88% F[L]=0% Nali=1048 V321L Disease 4 0.702 PANTHER: F[V]=63% F[L]=4% V321L Disease 3 0.651 SNPs&GO T323I Disease 4 0.716 PhD-SNP: F[T]=61% F[I]=1% Nali=1047 T323I Disease 4 0.722 PANTHER: F[T]=41% F[I]=2% T323I Disease 0 0.522 SNPs&GO R324C Disease 7 0.865 PhD-SNP: F[R]=54% F[C]=0% Nali=1047 R324C Disease 9 0.954 PANTHER: F[R]=48% F[C]=0% R324C Disease 6 0.777 SNPs&GO R324H Disease 4 0.684 PhD-SNP: F[R]=54% F[H]=1% Nali=1047 R324H Disease 7 0.864 PANTHER: F[R]=48% F[H]=1% R324H Disease 2 0.623 SNPs&GO R324L Disease 7 0.828 PhD-SNP: F[R]=54% F[L]=2% Nali=1047 R324L Disease 7 0.853 PANTHER: F[R]=48% F[L]=1% R324L Disease 6 0.795 SNPs&GO R324S Disease 4 0.718 PhD-SNP: F[R]=54% F[S]=5% Nali=1047 R324S Disease 1 0.558 PANTHER: F[R]=48% F[S]=6% R324S Disease 1 0.529 SNPs&GO V325L Disease 3 0.641 PhD-SNP: F[V]=79% F[L]=4% Nali=1046 V325L Disease 3 0.666 PANTHER: F[V]=51% F[L]=4% V325L Disease 1 0.550 SNPs&GO A326V Neutral 3 0.333 PhD-SNP: F[A]=12% F[V]=2% Nali=1046 A326V Neutral 2 0.389 PANTHER: F[A]=7% F[V]=2% A326V Neutral 7 0.148 SNPs&GO D330A Disease 2 0.611 PhD-SNP: F[D]=39% F[A]=3% Nali=1042 D330A Neutral 2 0.396 PANTHER: F[D]=16% F[A]=4% D330A Neutral 5 0.239 SNPs&GO D330H Disease 2 0.625 PhD-SNP: F[D]=39% F[H]=1% Nali=1042 D330H Disease 2 0.606 PANTHER: F[D]=16% F[H]=1% D330H Neutral 4 0.298 SNPs&GO D330V Disease 5 0.760 PhD-SNP: F[D]=39% F[V]=0% Nali=1042 D330V Disease 2 0.591 PANTHER: F[D]=16% F[V]=1% D330V Neutral 0 0.480 SNPs&GO D330Y Disease 6 0.816 PhD-SNP: F[D]=39% F[Y]=0% Nali=1042 D330Y Disease 2 0.612 PANTHER: F[D]=16% F[Y]=1% D330Y Disease 0 0.503 SNPs&GO L332F Disease 3 0.662 PhD-SNP: F[L]=8% F[F]=0% Nali=1036 L332F Disease 1 0.565 PANTHER: F[L]=12% F[F]=1% L332F Neutral 2 0.390 SNPs&GO S337R Neutral 5 0.242 PhD-SNP: F[S]=19% F[R]=4% Nali=511 S337R Unclassified NA NA PANTHER: F[S]=NA F[R]=NA S337R Neutral 8 0.105 SNPs&GO S339F Neutral 6 0.210 PhD-SNP: F[S]=23% F[F]=1% Nali=327 S339F Unclassified NA NA PANTHER: F[S]=NA F[F]=NA S339F Neutral 8 0.077 SNPs&GO S340C Neutral 5 0.252 PhD-SNP: F[S]=40% F[C]=1% Nali=212 S340C Unclassified NA NA PANTHER: F[S]=NA F[C]=NA S340C Neutral 8 0.077 SNPs&GO S340F Neutral 5 0.258 PhD-SNP: F[S]=40% F[F]=1% Nali=212 S340F Unclassified NA NA PANTHER: F[S]=NA F[F]=NA S340F Neutral 8 0.087 SNPs&GO R342C Neutral 1 0.441 PhD-SNP: F[R]=33% F[C]=1% Nali=104 R342C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R342C Neutral 6 0.200 SNPs&GO R342S Neutral 5 0.238 PhD-SNP: F[R]=33% F[S]=8% Nali=104 R342S Unclassified NA NA PANTHER: F[R]=NA F[S]=NA R342S Neutral 8 0.098 SNPs&GO E343K Neutral 7 0.153 PhD-SNP: F[E]=29% F[K]=6% Nali=82 E343K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E343K Neutral 8 0.082 SNPs&GO P344H Neutral 4 0.283 PhD-SNP: F[P]=54% F[H]=0% Nali=71 P344H Unclassified NA NA PANTHER: F[P]=NA F[H]=NA P344H Neutral 8 0.084 SNPs&GO P344R Neutral 5 0.253 PhD-SNP: F[P]=54% F[R]=3% Nali=71 P344R Unclassified NA NA PANTHER: F[P]=NA F[R]=NA P344R Neutral 8 0.100 SNPs&GO P344S Neutral 6 0.176 PhD-SNP: F[P]=54% F[S]=8% Nali=71 P344S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P344S Neutral 9 0.069 SNPs&GO S345N Neutral 5 0.231 PhD-SNP: F[S]=52% F[N]=0% Nali=61 S345N Unclassified NA NA PANTHER: F[S]=NA F[N]=NA S345N Neutral 9 0.060 SNPs&GO C346F Neutral 2 0.389 PhD-SNP: F[C]=60% F[F]=4% Nali=44 C346F Unclassified NA NA PANTHER: F[C]=NA F[F]=NA C346F Neutral 8 0.116 SNPs&GO C346Y Neutral 1 0.443 PhD-SNP: F[C]=60% F[Y]=0% Nali=44 C346Y Unclassified NA NA PANTHER: F[C]=NA F[Y]=NA C346Y Neutral 7 0.167 SNPs&GO L350R Neutral 5 0.235 PhD-SNP: F[L]=53% F[R]=10% Nali=29 L350R Unclassified NA NA PANTHER: F[L]=NA F[R]=NA L350R Neutral 8 0.080 SNPs&GO A351D Neutral 4 0.320 PhD-SNP: F[A]=33% F[D]=0% Nali=29 A351D Unclassified NA NA PANTHER: F[A]=NA F[D]=NA A351D Neutral 7 0.164 SNPs&GO W352R Neutral 3 0.352 PhD-SNP: F[W]=43% F[R]=3% Nali=29 W352R Unclassified NA NA PANTHER: F[W]=NA F[R]=NA W352R Neutral 8 0.109 SNPs&GO P354H Neutral 4 0.295 PhD-SNP: F[P]=52% F[H]=0% Nali=30 P354H Unclassified NA NA PANTHER: F[P]=NA F[H]=NA P354H Neutral 8 0.092 SNPs&GO P354L Neutral 5 0.243 PhD-SNP: F[P]=52% F[L]=6% Nali=30 P354L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P354L Neutral 8 0.102 SNPs&GO P354R Neutral 4 0.318 PhD-SNP: F[P]=52% F[R]=3% Nali=30 P354R Unclassified NA NA PANTHER: F[P]=NA F[R]=NA P354R Neutral 7 0.148 SNPs&GO P354S Neutral 6 0.213 PhD-SNP: F[P]=52% F[S]=3% Nali=30 P354S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P354S Neutral 8 0.091 SNPs&GO P354T Neutral 6 0.214 PhD-SNP: F[P]=52% F[T]=0% Nali=30 P354T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P354T Neutral 9 0.053 SNPs&GO P355A Neutral 8 0.120 PhD-SNP: F[P]=47% F[A]=3% Nali=29 P355A Unclassified NA NA PANTHER: F[P]=NA F[A]=NA P355A Neutral 9 0.049 SNPs&GO P355H Neutral 5 0.254 PhD-SNP: F[P]=47% F[H]=0% Nali=29 P355H Unclassified NA NA PANTHER: F[P]=NA F[H]=NA P355H Neutral 8 0.086 SNPs&GO P355L Neutral 6 0.199 PhD-SNP: F[P]=47% F[L]=7% Nali=29 P355L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P355L Neutral 8 0.097 SNPs&GO P355S Neutral 7 0.148 PhD-SNP: F[P]=47% F[S]=7% Nali=29 P355S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P355S Neutral 9 0.074 SNPs&GO Q356K Neutral 6 0.176 PhD-SNP: F[Q]=26% F[K]=10% Nali=30 Q356K Unclassified NA NA PANTHER: F[Q]=NA F[K]=NA Q356K Neutral 8 0.081 SNPs&GO Q356P Neutral 1 0.459 PhD-SNP: F[Q]=26% F[P]=6% Nali=30 Q356P Unclassified NA NA PANTHER: F[Q]=NA F[P]=NA Q356P Neutral 7 0.169 SNPs&GO Q356R Neutral 7 0.150 PhD-SNP: F[Q]=26% F[R]=10% Nali=30 Q356R Unclassified NA NA PANTHER: F[Q]=NA F[R]=NA Q356R Neutral 8 0.079 SNPs&GO E357D Neutral 6 0.176 PhD-SNP: F[E]=35% F[D]=6% Nali=30 E357D Unclassified NA NA PANTHER: F[E]=NA F[D]=NA E357D Neutral 8 0.104 SNPs&GO D361G Disease 1 0.538 PhD-SNP: F[D]=37% F[G]=0% Nali=26 D361G Unclassified NA NA PANTHER: F[D]=NA F[G]=NA D361G Neutral 5 0.251 SNPs&GO D361H Neutral 2 0.425 PhD-SNP: F[D]=37% F[H]=0% Nali=26 D361H Unclassified NA NA PANTHER: F[D]=NA F[H]=NA D361H Neutral 7 0.144 SNPs&GO R364L Disease 3 0.652 PhD-SNP: F[R]=32% F[L]=0% Nali=24 R364L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R364L Neutral 3 0.368 SNPs&GO R364W Disease 1 0.559 PhD-SNP: F[R]=32% F[W]=4% Nali=24 R364W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R364W Neutral 4 0.319 SNPs&GO L365F Disease 2 0.602 PhD-SNP: F[L]=67% F[F]=0% Nali=23 L365F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L365F Neutral 2 0.380 SNPs&GO L365P Disease 6 0.790 PhD-SNP: F[L]=67% F[P]=0% Nali=23 L365P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L365P Disease 3 0.632 SNPs&GO C366Y Disease 8 0.893 PhD-SNP: F[C]=80% F[Y]=0% Nali=19 C366Y Unclassified NA NA PANTHER: F[C]=NA F[Y]=NA C366Y Disease 5 0.756 SNPs&GO A367T Neutral 3 0.339 PhD-SNP: F[A]=37% F[T]=0% Nali=18 A367T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A367T Neutral 7 0.167 SNPs&GO A370D Disease 4 0.704 PhD-SNP: F[A]=39% F[D]=0% Nali=17 A370D Unclassified NA NA PANTHER: F[A]=NA F[D]=NA A370D Neutral 0 0.491 SNPs&GO R371C Disease 6 0.783 PhD-SNP: F[R]=44% F[C]=0% Nali=17 R371C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R371C Disease 0 0.515 SNPs&GO R371H Neutral 0 0.486 PhD-SNP: F[R]=44% F[H]=0% Nali=17 R371H Unclassified NA NA PANTHER: F[R]=NA F[H]=NA R371H Neutral 6 0.224 SNPs&GO C373G Disease 7 0.837 PhD-SNP: F[C]=83% F[G]=0% Nali=22 C373G Unclassified NA NA PANTHER: F[C]=NA F[G]=NA C373G Disease 4 0.721 SNPs&GO C373R Disease 7 0.838 PhD-SNP: F[C]=83% F[R]=0% Nali=22 C373R Unclassified NA NA PANTHER: F[C]=NA F[R]=NA C373R Disease 5 0.764 SNPs&GO C373W Disease 7 0.859 PhD-SNP: F[C]=83% F[W]=0% Nali=22 C373W Unclassified NA NA PANTHER: F[C]=NA F[W]=NA C373W Disease 6 0.785 SNPs&GO P374Q Disease 2 0.621 PhD-SNP: F[P]=70% F[Q]=0% Nali=22 P374Q Unclassified NA NA PANTHER: F[P]=NA F[Q]=NA P374Q Neutral 2 0.385 SNPs&GO P374R Disease 3 0.663 PhD-SNP: F[P]=70% F[R]=0% Nali=22 P374R Unclassified NA NA PANTHER: F[P]=NA F[R]=NA P374R Neutral 1 0.459 SNPs&GO G375V Disease 2 0.589 PhD-SNP: F[G]=64% F[V]=0% Nali=21 G375V Unclassified NA NA PANTHER: F[G]=NA F[V]=NA G375V Neutral 2 0.413 SNPs&GO S376C Neutral 0 0.497 PhD-SNP: F[S]=42% F[C]=5% Nali=18 S376C Unclassified NA NA PANTHER: F[S]=NA F[C]=NA S376C Neutral 6 0.203 SNPs&GO S376Y Disease 3 0.649 PhD-SNP: F[S]=42% F[Y]=0% Nali=18 S376Y Unclassified NA NA PANTHER: F[S]=NA F[Y]=NA S376Y Neutral 5 0.248 SNPs&GO G378D Neutral 1 0.444 PhD-SNP: F[G]=44% F[D]=6% Nali=17 G378D Unclassified NA NA PANTHER: F[G]=NA F[D]=NA G378D Neutral 4 0.302 SNPs&GO G378V Neutral 2 0.415 PhD-SNP: F[G]=44% F[V]=0% Nali=17 G378V Unclassified NA NA PANTHER: F[G]=NA F[V]=NA G378V Neutral 5 0.229 SNPs&GO A379V Neutral 5 0.231 PhD-SNP: F[A]=35% F[V]=0% Nali=19 A379V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A379V Neutral 8 0.105 SNPs&GO C380G Disease 5 0.748 PhD-SNP: F[C]=78% F[G]=0% Nali=17 C380G Unclassified NA NA PANTHER: F[C]=NA F[G]=NA C380G Disease 1 0.532 SNPs&GO C380Y Disease 7 0.826 PhD-SNP: F[C]=78% F[Y]=0% Nali=17 C380Y Unclassified NA NA PANTHER: F[C]=NA F[Y]=NA C380Y Disease 2 0.621 SNPs&GO A381P Disease 2 0.590 PhD-SNP: F[A]=44% F[P]=0% Nali=17 A381P Unclassified NA NA PANTHER: F[A]=NA F[P]=NA A381P Neutral 5 0.239 SNPs&GO A381V Neutral 7 0.175 PhD-SNP: F[A]=44% F[V]=6% Nali=17 A381V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A381V Neutral 8 0.079 SNPs&GO R382G Disease 1 0.540 PhD-SNP: F[R]=59% F[G]=0% Nali=16 R382G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R382G Neutral 5 0.271 SNPs&GO R382L Disease 3 0.649 PhD-SNP: F[R]=59% F[L]=0% Nali=16 R382L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R382L Neutral 4 0.305 SNPs&GO L383P Disease 4 0.684 PhD-SNP: F[L]=76% F[P]=0% Nali=16 L383P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L383P Neutral 2 0.421 SNPs&GO A384E Neutral 1 0.474 PhD-SNP: F[A]=78% F[E]=0% Nali=17 A384E Unclassified NA NA PANTHER: F[A]=NA F[E]=NA A384E Neutral 5 0.240 SNPs&GO A384P Neutral 2 0.414 PhD-SNP: F[A]=78% F[P]=6% Nali=17 A384P Unclassified NA NA PANTHER: F[A]=NA F[P]=NA A384P Neutral 6 0.185 SNPs&GO A384V Neutral 5 0.251 PhD-SNP: F[A]=78% F[V]=6% Nali=17 A384V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A384V Neutral 8 0.121 SNPs&GO H385Y Neutral 7 0.131 PhD-SNP: F[H]=25% F[Y]=6% Nali=15 H385Y Unclassified NA NA PANTHER: F[H]=NA F[Y]=NA H385Y Neutral 8 0.097 SNPs&GO Q386H Neutral 6 0.203 PhD-SNP: F[Q]=50% F[H]=0% Nali=15 Q386H Unclassified NA NA PANTHER: F[Q]=NA F[H]=NA Q386H Neutral 8 0.076 SNPs&GO Q386P Disease 0 0.514 PhD-SNP: F[Q]=50% F[P]=0% Nali=15 Q386P Unclassified NA NA PANTHER: F[Q]=NA F[P]=NA Q386P Neutral 5 0.244 SNPs&GO C388F Disease 6 0.815 PhD-SNP: F[C]=100% F[F]=0% Nali=16 C388F Unclassified NA NA PANTHER: F[C]=NA F[F]=NA C388F Disease 4 0.718 SNPs&GO C388G Disease 6 0.804 PhD-SNP: F[C]=100% F[G]=0% Nali=16 C388G Unclassified NA NA PANTHER: F[C]=NA F[G]=NA C388G Disease 4 0.713 SNPs&GO C388R Disease 5 0.759 PhD-SNP: F[C]=100% F[R]=0% Nali=16 C388R Unclassified NA NA PANTHER: F[C]=NA F[R]=NA C388R Disease 4 0.689 SNPs&GO R391G Disease 1 0.571 PhD-SNP: F[R]=76% F[G]=0% Nali=16 R391G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R391G Neutral 3 0.345 SNPs&GO R391H Disease 1 0.526 PhD-SNP: F[R]=76% F[H]=0% Nali=16 R391H Unclassified NA NA PANTHER: F[R]=NA F[H]=NA R391H Neutral 5 0.237 SNPs&GO R392G Disease 1 0.548 PhD-SNP: F[R]=59% F[G]=0% Nali=16 R392G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R392G Neutral 4 0.322 SNPs&GO R392P Disease 5 0.759 PhD-SNP: F[R]=59% F[P]=0% Nali=16 R392P Unclassified NA NA PANTHER: F[R]=NA F[P]=NA R392P Neutral 1 0.459 SNPs&GO R392W Disease 4 0.686 PhD-SNP: F[R]=59% F[W]=0% Nali=16 R392W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R392W Neutral 2 0.406 SNPs&GO R393L Disease 4 0.713 PhD-SNP: F[R]=82% F[L]=0% Nali=16 R393L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R393L Neutral 2 0.392 SNPs&GO R393Q Disease 1 0.527 PhD-SNP: F[R]=82% F[Q]=6% Nali=16 R393Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R393Q Neutral 5 0.271 SNPs&GO R393W Disease 5 0.754 PhD-SNP: F[R]=82% F[W]=0% Nali=16 R393W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R393W Neutral 0 0.491 SNPs&GO R394P Disease 5 0.765 PhD-SNP: F[R]=76% F[P]=0% Nali=16 R394P Unclassified NA NA PANTHER: F[R]=NA F[P]=NA R394P Neutral 0 0.477 SNPs&GO C395R Disease 5 0.735 PhD-SNP: F[C]=94% F[R]=0% Nali=17 C395R Unclassified NA NA PANTHER: F[C]=NA F[R]=NA C395R Disease 2 0.585 SNPs&GO E396D Neutral 9 0.057 PhD-SNP: F[E]=56% F[D]=28% Nali=17 E396D Unclassified NA NA PANTHER: F[E]=NA F[D]=NA E396D Neutral 9 0.036 SNPs&GO R398L Disease 5 0.747 PhD-SNP: F[R]=73% F[L]=0% Nali=14 R398L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R398L Neutral 2 0.403 SNPs&GO S399A Neutral 3 0.364 PhD-SNP: F[S]=88% F[A]=0% Nali=15 S399A Unclassified NA NA PANTHER: F[S]=NA F[A]=NA S399A Neutral 6 0.180 SNPs&GO S399L Disease 2 0.586 PhD-SNP: F[S]=88% F[L]=0% Nali=15 S399L Unclassified NA NA PANTHER: F[S]=NA F[L]=NA S399L Neutral 6 0.191 SNPs&GO S399W Disease 5 0.728 PhD-SNP: F[S]=88% F[W]=0% Nali=15 S399W Unclassified NA NA PANTHER: F[S]=NA F[W]=NA S399W Neutral 3 0.359 SNPs&GO A401E Disease 2 0.592 PhD-SNP: F[A]=69% F[E]=0% Nali=15 A401E Unclassified NA NA PANTHER: F[A]=NA F[E]=NA A401E Neutral 6 0.225 SNPs&GO A401V Neutral 4 0.286 PhD-SNP: F[A]=69% F[V]=6% Nali=15 A401V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A401V Neutral 8 0.090 SNPs&GO H402L Disease 4 0.704 PhD-SNP: F[H]=56% F[L]=0% Nali=15 H402L Unclassified NA NA PANTHER: F[H]=NA F[L]=NA H402L Neutral 5 0.241 SNPs&GO H402R Disease 2 0.581 PhD-SNP: F[H]=56% F[R]=0% Nali=15 H402R Unclassified NA NA PANTHER: F[H]=NA F[R]=NA H402R Neutral 5 0.235 SNPs&GO H402Y Disease 2 0.609 PhD-SNP: F[H]=56% F[Y]=0% Nali=15 H402Y Unclassified NA NA PANTHER: F[H]=NA F[Y]=NA H402Y Neutral 5 0.232 SNPs&GO T403K Disease 5 0.770 PhD-SNP: F[T]=81% F[K]=0% Nali=15 T403K Unclassified NA NA PANTHER: F[T]=NA F[K]=NA T403K Neutral 1 0.460 SNPs&GO L404M Disease 1 0.548 PhD-SNP: F[L]=94% F[M]=0% Nali=15 L404M Unclassified NA NA PANTHER: F[L]=NA F[M]=NA L404M Neutral 6 0.205 SNPs&GO L404Q Disease 6 0.787 PhD-SNP: F[L]=94% F[Q]=0% Nali=15 L404Q Unclassified NA NA PANTHER: F[L]=NA F[Q]=NA L404Q Neutral 0 0.478 SNPs&GO L404R Disease 6 0.793 PhD-SNP: F[L]=94% F[R]=0% Nali=15 L404R Unclassified NA NA PANTHER: F[L]=NA F[R]=NA L404R Disease 1 0.544 SNPs&GO L404V Neutral 1 0.465 PhD-SNP: F[L]=94% F[V]=0% Nali=15 L404V Unclassified NA NA PANTHER: F[L]=NA F[V]=NA L404V Neutral 4 0.302 SNPs&GO L405R Disease 6 0.796 PhD-SNP: F[L]=81% F[R]=0% Nali=15 L405R Unclassified NA NA PANTHER: F[L]=NA F[R]=NA L405R Neutral 0 0.475 SNPs&GO L407P Disease 6 0.786 PhD-SNP: F[L]=86% F[P]=0% Nali=13 L407P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L407P Neutral 0 0.488 SNPs&GO L407R Disease 6 0.810 PhD-SNP: F[L]=86% F[R]=0% Nali=13 L407R Unclassified NA NA PANTHER: F[L]=NA F[R]=NA L407R Neutral 0 0.498 SNPs&GO L408V Neutral 1 0.427 PhD-SNP: F[L]=93% F[V]=0% Nali=13 L408V Unclassified NA NA PANTHER: F[L]=NA F[V]=NA L408V Neutral 5 0.229 SNPs&GO R409L Disease 6 0.816 PhD-SNP: F[R]=71% F[L]=0% Nali=13 R409L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R409L Neutral 2 0.425 SNPs&GO R409W Disease 6 0.789 PhD-SNP: F[R]=71% F[W]=0% Nali=13 R409W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R409W Neutral 1 0.426 SNPs&GO N410I Neutral 2 0.382 PhD-SNP: F[N]=21% F[I]=0% Nali=13 N410I Unclassified NA NA PANTHER: F[N]=NA F[I]=NA N410I Neutral 7 0.140 SNPs&GO A411T Disease 1 0.556 PhD-SNP: F[A]=93% F[T]=0% Nali=13 A411T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A411T Neutral 7 0.160 SNPs&GO A411V Disease 1 0.558 PhD-SNP: F[A]=93% F[V]=0% Nali=13 A411V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A411V Neutral 5 0.235 SNPs&GO Q412H Disease 1 0.536 PhD-SNP: F[Q]=64% F[H]=0% Nali=13 Q412H Unclassified NA NA PANTHER: F[Q]=NA F[H]=NA Q412H Neutral 7 0.162 SNPs&GO Q412R Disease 2 0.582 PhD-SNP: F[Q]=64% F[R]=0% Nali=13 Q412R Unclassified NA NA PANTHER: F[Q]=NA F[R]=NA Q412R Neutral 6 0.181 SNPs&GO E413G Neutral 2 0.415 PhD-SNP: F[E]=57% F[G]=0% Nali=13 E413G Unclassified NA NA PANTHER: F[E]=NA F[G]=NA E413G Neutral 8 0.119 SNPs&GO E413V Disease 2 0.593 PhD-SNP: F[E]=57% F[V]=0% Nali=13 E413V Unclassified NA NA PANTHER: F[E]=NA F[V]=NA E413V Neutral 5 0.245 SNPs&GO G416A Neutral 0 0.476 PhD-SNP: F[G]=75% F[A]=0% Nali=11 G416A Unclassified NA NA PANTHER: F[G]=NA F[A]=NA G416A Neutral 6 0.196 SNPs&GO G416E Disease 3 0.660 PhD-SNP: F[G]=75% F[E]=0% Nali=11 G416E Unclassified NA NA PANTHER: F[G]=NA F[E]=NA G416E Neutral 3 0.344 SNPs&GO G416R Neutral 4 0.315 PhD-SNP: F[G]=75% F[R]=17% Nali=11 G416R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G416R Neutral 7 0.132 SNPs&GO G416V Disease 3 0.626 PhD-SNP: F[G]=75% F[V]=0% Nali=11 G416V Unclassified NA NA PANTHER: F[G]=NA F[V]=NA G416V Neutral 4 0.312 SNPs&GO G416W Disease 5 0.741 PhD-SNP: F[G]=75% F[W]=0% Nali=11 G416W Unclassified NA NA PANTHER: F[G]=NA F[W]=NA G416W Neutral 2 0.380 SNPs&GO P417H Neutral 0 0.484 PhD-SNP: F[P]=69% F[H]=0% Nali=12 P417H Unclassified NA NA PANTHER: F[P]=NA F[H]=NA P417H Neutral 7 0.132 SNPs&GO P417T Neutral 3 0.338 PhD-SNP: F[P]=69% F[T]=0% Nali=12 P417T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P417T Neutral 9 0.073 SNPs&GO P419A Neutral 4 0.302 PhD-SNP: F[P]=69% F[A]=0% Nali=12 P419A Unclassified NA NA PANTHER: F[P]=NA F[A]=NA P419A Neutral 8 0.095 SNPs&GO P419Q Disease 0 0.518 PhD-SNP: F[P]=69% F[Q]=0% Nali=12 P419Q Unclassified NA NA PANTHER: F[P]=NA F[Q]=NA P419Q Neutral 6 0.185 SNPs&GO P419R Disease 1 0.546 PhD-SNP: F[P]=69% F[R]=0% Nali=12 P419R Unclassified NA NA PANTHER: F[P]=NA F[R]=NA P419R Neutral 6 0.213 SNPs&GO P419S Neutral 1 0.427 PhD-SNP: F[P]=69% F[S]=0% Nali=12 P419S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P419S Neutral 7 0.138 SNPs&GO P419T Neutral 3 0.374 PhD-SNP: F[P]=69% F[T]=0% Nali=12 P419T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P419T Neutral 8 0.084 SNPs&GO G420E Disease 1 0.571 PhD-SNP: F[G]=85% F[E]=0% Nali=12 G420E Unclassified NA NA PANTHER: F[G]=NA F[E]=NA G420E Neutral 4 0.313 SNPs&GO G420V Disease 2 0.586 PhD-SNP: F[G]=85% F[V]=0% Nali=12 G420V Unclassified NA NA PANTHER: F[G]=NA F[V]=NA G420V Neutral 4 0.319 SNPs&GO L421P Disease 3 0.632 PhD-SNP: F[L]=83% F[P]=0% Nali=11 L421P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L421P Neutral 4 0.289 SNPs&GO L421R Disease 3 0.664 PhD-SNP: F[L]=83% F[R]=0% Nali=11 L421R Unclassified NA NA PANTHER: F[L]=NA F[R]=NA L421R Neutral 4 0.306 SNPs&GO R422Q Neutral 1 0.451 PhD-SNP: F[R]=75% F[Q]=0% Nali=11 R422Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R422Q Neutral 7 0.168 SNPs&GO R422W Disease 1 0.566 PhD-SNP: F[R]=75% F[W]=0% Nali=11 R422W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R422W Neutral 5 0.239 SNPs&GO R423G Neutral 2 0.391 PhD-SNP: F[R]=75% F[G]=0% Nali=11 R423G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R423G Neutral 7 0.139 SNPs&GO R423H Neutral 1 0.446 PhD-SNP: F[R]=75% F[H]=0% Nali=11 R423H Unclassified NA NA PANTHER: F[R]=NA F[H]=NA R423H Neutral 7 0.143 SNPs&GO R423L Disease 3 0.632 PhD-SNP: F[R]=75% F[L]=0% Nali=11 R423L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R423L Neutral 5 0.251 SNPs&GO R423S Neutral 1 0.468 PhD-SNP: F[R]=75% F[S]=0% Nali=11 R423S Unclassified NA NA PANTHER: F[R]=NA F[S]=NA R423S Neutral 7 0.158 SNPs&GO A425D Disease 1 0.573 PhD-SNP: F[A]=58% F[D]=0% Nali=11 A425D Unclassified NA NA PANTHER: F[A]=NA F[D]=NA A425D Neutral 6 0.187 SNPs&GO A425P Disease 1 0.530 PhD-SNP: F[A]=58% F[P]=0% Nali=11 A425P Unclassified NA NA PANTHER: F[A]=NA F[P]=NA A425P Neutral 7 0.141 SNPs&GO A425S Neutral 4 0.304 PhD-SNP: F[A]=58% F[S]=0% Nali=11 A425S Unclassified NA NA PANTHER: F[A]=NA F[S]=NA A425S Neutral 8 0.084 SNPs&GO P426A Neutral 7 0.133 PhD-SNP: F[P]=50% F[A]=0% Nali=11 P426A Unclassified NA NA PANTHER: F[P]=NA F[A]=NA P426A Neutral 9 0.045 SNPs&GO P426H Neutral 4 0.299 PhD-SNP: F[P]=50% F[H]=0% Nali=11 P426H Unclassified NA NA PANTHER: F[P]=NA F[H]=NA P426H Neutral 8 0.081 SNPs&GO P426L Neutral 4 0.298 PhD-SNP: F[P]=50% F[L]=0% Nali=11 P426L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P426L Neutral 8 0.109 SNPs&GO P426T Neutral 7 0.171 PhD-SNP: F[P]=50% F[T]=0% Nali=11 P426T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P426T Neutral 9 0.042 SNPs&GO A429V Neutral 1 0.434 PhD-SNP: F[A]=90% F[V]=0% Nali=9 A429V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A429V Neutral 7 0.169 SNPs&GO P431H Neutral 3 0.345 PhD-SNP: F[P]=50% F[H]=0% Nali=9 P431H Unclassified NA NA PANTHER: F[P]=NA F[H]=NA P431H Neutral 8 0.101 SNPs&GO P431L Neutral 5 0.247 PhD-SNP: F[P]=50% F[L]=10% Nali=9 P431L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P431L Neutral 8 0.095 SNPs&GO P431T Neutral 6 0.200 PhD-SNP: F[P]=50% F[T]=0% Nali=9 P431T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P431T Neutral 9 0.052 SNPs&GO A432D Disease 4 0.689 PhD-SNP: F[A]=90% F[D]=0% Nali=9 A432D Unclassified NA NA PANTHER: F[A]=NA F[D]=NA A432D Neutral 5 0.271 SNPs&GO A432T Neutral 2 0.402 PhD-SNP: F[A]=90% F[T]=0% Nali=9 A432T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A432T Neutral 8 0.111 SNPs&GO A434E Disease 0 0.522 PhD-SNP: F[A]=45% F[E]=0% Nali=10 A434E Unclassified NA NA PANTHER: F[A]=NA F[E]=NA A434E Neutral 6 0.189 SNPs&GO A434T Neutral 4 0.322 PhD-SNP: F[A]=45% F[T]=0% Nali=10 A434T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A434T Neutral 8 0.080 SNPs&GO A434V Neutral 2 0.378 PhD-SNP: F[A]=45% F[V]=0% Nali=10 A434V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A434V Neutral 8 0.108 SNPs&GO L435F Neutral 3 0.336 PhD-SNP: F[L]=91% F[F]=0% Nali=10 L435F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L435F Neutral 8 0.079 SNPs&GO R436G Neutral 3 0.348 PhD-SNP: F[R]=27% F[G]=0% Nali=10 R436G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R436G Neutral 7 0.125 SNPs&GO R436M Neutral 4 0.289 PhD-SNP: F[R]=27% F[M]=0% Nali=10 R436M Unclassified NA NA PANTHER: F[R]=NA F[M]=NA R436M Neutral 9 0.069 SNPs&GO E437A Neutral 3 0.375 PhD-SNP: F[E]=91% F[A]=0% Nali=10 E437A Unclassified NA NA PANTHER: F[E]=NA F[A]=NA E437A Neutral 8 0.089 SNPs&GO E437G Neutral 1 0.435 PhD-SNP: F[E]=91% F[G]=0% Nali=10 E437G Unclassified NA NA PANTHER: F[E]=NA F[G]=NA E437G Neutral 8 0.112 SNPs&GO P439L Neutral 1 0.431 PhD-SNP: F[P]=82% F[L]=0% Nali=10 P439L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P439L Neutral 7 0.148 SNPs&GO P439S Neutral 5 0.245 PhD-SNP: F[P]=82% F[S]=9% Nali=10 P439S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P439S Neutral 9 0.075 SNPs&GO H441P Disease 1 0.571 PhD-SNP: F[H]=82% F[P]=0% Nali=10 H441P Unclassified NA NA PANTHER: F[H]=NA F[P]=NA H441P Neutral 6 0.179 SNPs&GO H441Q Neutral 2 0.424 PhD-SNP: F[H]=82% F[Q]=0% Nali=10 H441Q Unclassified NA NA PANTHER: F[H]=NA F[Q]=NA H441Q Neutral 7 0.133 SNPs&GO H441Y Neutral 1 0.432 PhD-SNP: F[H]=82% F[Y]=0% Nali=10 H441Y Unclassified NA NA PANTHER: F[H]=NA F[Y]=NA H441Y Neutral 8 0.119 SNPs&GO P442H Neutral 6 0.220 PhD-SNP: F[P]=45% F[H]=9% Nali=10 P442H Unclassified NA NA PANTHER: F[P]=NA F[H]=NA P442H Neutral 9 0.054 SNPs&GO P442L Neutral 4 0.288 PhD-SNP: F[P]=45% F[L]=0% Nali=10 P442L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P442L Neutral 8 0.092 SNPs&GO P442T Neutral 6 0.202 PhD-SNP: F[P]=45% F[T]=0% Nali=10 P442T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P442T Neutral 9 0.038 SNPs&GO A443D Disease 2 0.602 PhD-SNP: F[A]=64% F[D]=0% Nali=10 A443D Unclassified NA NA PANTHER: F[A]=NA F[D]=NA A443D Neutral 6 0.181 SNPs&GO R444Q Disease 2 0.596 PhD-SNP: F[R]=100% F[Q]=0% Nali=9 R444Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R444Q Neutral 4 0.287 SNPs&GO R444W Disease 3 0.644 PhD-SNP: F[R]=100% F[W]=0% Nali=9 R444W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R444W Neutral 3 0.356 SNPs&GO E445G Neutral 2 0.412 PhD-SNP: F[E]=100% F[G]=0% Nali=9 E445G Unclassified NA NA PANTHER: F[E]=NA F[G]=NA E445G Neutral 8 0.101 SNPs&GO E445K Disease 0 0.514 PhD-SNP: F[E]=100% F[K]=0% Nali=9 E445K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E445K Neutral 7 0.163 SNPs&GO R447Q Disease 2 0.597 PhD-SNP: F[R]=100% F[Q]=0% Nali=9 R447Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R447Q Neutral 5 0.273 SNPs&GO R447W Disease 2 0.622 PhD-SNP: F[R]=100% F[W]=0% Nali=9 R447W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R447W Neutral 4 0.316 SNPs&GO L448F Neutral 2 0.402 PhD-SNP: F[L]=90% F[F]=0% Nali=9 L448F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L448F Neutral 8 0.101 SNPs&GO L448I Neutral 3 0.340 PhD-SNP: F[L]=90% F[I]=0% Nali=9 L448I Unclassified NA NA PANTHER: F[L]=NA F[I]=NA L448I Neutral 8 0.098 SNPs&GO H449D Disease 3 0.634 PhD-SNP: F[H]=60% F[D]=0% Nali=9 H449D Unclassified NA NA PANTHER: F[H]=NA F[D]=NA H449D Neutral 5 0.269 SNPs&GO H449Q Neutral 0 0.482 PhD-SNP: F[H]=60% F[Q]=0% Nali=9 H449Q Unclassified NA NA PANTHER: F[H]=NA F[Q]=NA H449Q Neutral 7 0.153 SNPs&GO S452L Disease 2 0.583 PhD-SNP: F[S]=80% F[L]=0% Nali=9 S452L Unclassified NA NA PANTHER: F[S]=NA F[L]=NA S452L Neutral 7 0.163 SNPs&GO S452W Disease 4 0.714 PhD-SNP: F[S]=80% F[W]=0% Nali=9 S452W Unclassified NA NA PANTHER: F[S]=NA F[W]=NA S452W Neutral 4 0.299 SNPs&GO A455V Neutral 2 0.422 PhD-SNP: F[A]=80% F[V]=0% Nali=9 A455V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A455V Neutral 8 0.120 SNPs&GO G456S Neutral 1 0.448 PhD-SNP: F[G]=90% F[S]=0% Nali=9 G456S Unclassified NA NA PANTHER: F[G]=NA F[S]=NA G456S Neutral 7 0.166 SNPs&GO T457I Neutral 2 0.388 PhD-SNP: F[T]=70% F[I]=0% Nali=9 T457I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T457I Neutral 8 0.092 SNPs&GO K461Q Neutral 2 0.382 PhD-SNP: F[K]=89% F[Q]=0% Nali=8 K461Q Unclassified NA NA PANTHER: F[K]=NA F[Q]=NA K461Q Neutral 8 0.104 SNPs&GO R462W Disease 4 0.683 PhD-SNP: F[R]=56% F[W]=0% Nali=8 R462W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R462W Neutral 5 0.271 SNPs&GO R463S Disease 2 0.602 PhD-SNP: F[R]=44% F[S]=0% Nali=8 R463S Unclassified NA NA PANTHER: F[R]=NA F[S]=NA R463S Neutral 6 0.179 SNPs&GO P464L Disease 1 0.551 PhD-SNP: F[P]=89% F[L]=0% Nali=8 P464L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P464L Neutral 7 0.165 SNPs&GO P464T Disease 2 0.587 PhD-SNP: F[P]=89% F[T]=0% Nali=8 P464T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P464T Neutral 7 0.144 SNPs&GO E465D Disease 0 0.505 PhD-SNP: F[E]=90% F[D]=0% Nali=9 E465D Unclassified NA NA PANTHER: F[E]=NA F[D]=NA E465D Neutral 7 0.169 SNPs&GO E465Q Disease 1 0.544 PhD-SNP: F[E]=90% F[Q]=0% Nali=9 E465Q Unclassified NA NA PANTHER: F[E]=NA F[Q]=NA E465Q Neutral 7 0.173 SNPs&GO R467C Disease 5 0.737 PhD-SNP: F[R]=90% F[C]=0% Nali=9 R467C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R467C Neutral 2 0.414 SNPs&GO R467G Disease 2 0.597 PhD-SNP: F[R]=90% F[G]=0% Nali=9 R467G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R467G Neutral 4 0.282 SNPs&GO R467H Disease 3 0.653 PhD-SNP: F[R]=90% F[H]=0% Nali=9 R467H Unclassified NA NA PANTHER: F[R]=NA F[H]=NA R467H Neutral 5 0.258 SNPs&GO R467L Disease 5 0.755 PhD-SNP: F[R]=90% F[L]=0% Nali=9 R467L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R467L Neutral 2 0.378 SNPs&GO R467P Disease 6 0.779 PhD-SNP: F[R]=90% F[P]=0% Nali=9 R467P Unclassified NA NA PANTHER: F[R]=NA F[P]=NA R467P Neutral 0 0.496 SNPs&GO G472R Disease 1 0.575 PhD-SNP: F[G]=82% F[R]=0% Nali=10 G472R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G472R Neutral 5 0.254 SNPs&GO G472S Disease 1 0.567 PhD-SNP: F[G]=82% F[S]=0% Nali=10 G472S Unclassified NA NA PANTHER: F[G]=NA F[S]=NA G472S Neutral 6 0.206 SNPs&GO G472V Disease 3 0.628 PhD-SNP: F[G]=82% F[V]=0% Nali=10 G472V Unclassified NA NA PANTHER: F[G]=NA F[V]=NA G472V Neutral 5 0.271 SNPs&GO P474S Disease 3 0.639 PhD-SNP: F[P]=100% F[S]=0% Nali=10 P474S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P474S Neutral 5 0.265 SNPs&GO P474T Disease 3 0.659 PhD-SNP: F[P]=100% F[T]=0% Nali=10 P474T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P474T Neutral 6 0.203 SNPs&GO G475R Disease 5 0.733 PhD-SNP: F[G]=100% F[R]=0% Nali=10 G475R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G475R Neutral 1 0.472 SNPs&GO E477G Disease 3 0.645 PhD-SNP: F[E]=82% F[G]=0% Nali=10 E477G Unclassified NA NA PANTHER: F[E]=NA F[G]=NA E477G Neutral 6 0.215 SNPs&GO P478H Disease 1 0.538 PhD-SNP: F[P]=64% F[H]=0% Nali=10 P478H Unclassified NA NA PANTHER: F[P]=NA F[H]=NA P478H Neutral 7 0.165 SNPs&GO P478S Neutral 1 0.474 PhD-SNP: F[P]=64% F[S]=0% Nali=10 P478S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P478S Neutral 7 0.173 SNPs&GO P478T Neutral 1 0.462 PhD-SNP: F[P]=64% F[T]=0% Nali=10 P478T Unclassified NA NA PANTHER: F[P]=NA F[T]=NA P478T Neutral 8 0.113 SNPs&GO E543K Disease 6 0.777 PhD-SNP: F[E]=100% F[K]=0% Nali=10 E543K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E543K Neutral 2 0.415 SNPs&GO Mutation: WT+POS+NEW WT: Residue in wild-type protein POS: Residue position NEW: New residue after mutation Prediction: Neutral: Neutral variation Disease: Disease associated variation RI: Reliability Index Probability: Disease probability (if >0.5 mutation is predicted Disease) Method: SVM type and data PANTHER: Output of the PANTHER algorithm PhD-SNP: SVM input is the sequence and profile at the mutated position SNPs&GO: SVM input is all the input in PhD-SNP, PANTHER and GO term features F[X]: Frequency of residue X in the sequence profile Nali: Number of aligned sequences in the mutated site ********************************************************************************************** ** ** ** Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. (2009). Functional ** ** annotations improve the predictive score of human disease-related mutations in ** ** proteins. Human Mutation. 30:1237-1244. ** ** ** ** Capriotti E, Altman RB. (2011). Improving the prediction of disease-related vari- ** ** ants using protein three-dimensional structure. BMC Bioinformatics. 12 (Sup.4) S3. ** ** ** **********************************************************************************************