TABLE 1.

The receiver operating characteristic (ROC) curve analysis for the different in silico predictions. AUC: Area under the curve, Obs: Number of observations, Std.Err: Standard error, CI: Confidence interval.

In silico prediction method	Observation	AUC	Std.Err	95% CI Low	95% CI High
XGBoost	820	1	0	0.99996	1
Consequence	4102	0.9978	0.0009	0.9961	0.99945
IMPACT	4102	0.9986	0.0005	0.99765	0.99957
SIFT_Score	142	0.1166	0.0237	0.07008	0.16318
PolyPhen_Scor	142	0.8811	0.0493	0.78446	0.97781
BayesDel_addAF_rankscore	717	0.9896	0.005	0.97974	0.99946
BayesDel_noAF_rankscore	717	0.9657	0.0105	0.94517	0.98617
CADD_raw_rankscore	717	0.9916	0.0041	0.9836	0.99968
ClinPred_rankscore	142	0.9922	0.0054	0.98165	1
DANN_rankscore	717	0.6899	0.0341	0.6231	0.75676
Eigen-PC-raw_coding_rankscore	717	0.8116	0.0255	0.76169	0.86157
Eigen-raw_coding_rankscore	717	0.8641	0.0225	0.81998	0.90832
FATHMM_converted_rankscore	142	0.9238	0.0437	0.8381	1
GERP++_RS_rankscore	717	0.658	0.0271	0.60495	0.71103
GM12878_fitCons_rankscore	717	0.4681	0.0266	0.41598	0.52016
GenoCanyon_rankscore	717	0.5597	0.0264	0.50789	0.61149
H1-hESC_fitCons_rankscore	717	0.5535	0.0285	0.49759	0.6095
HUVEC_fitCons_rankscore	717	0.5132	0.0257	0.46293	0.56354
LRT_converted_rankscore	717	0.5833	0.0273	0.52976	0.63693
M-CAP_rankscore	120	0.9181	0.0341	0.85119	0.985
MPC_rankscore	141	0.9294	0.0295	0.87164	0.98714
MVP_rankscore	135	0.9563	0.0184	0.92017	0.99247
MetaLR_rankscore	142	0.9414	0.0373	0.86837	1
MetaRNN_rankscore	142	0.995	0.0038	0.98745	1
MetaSVM_rankscore	142	0.9096	0.0688	0.77467	1
MutPred_rankscore	46	0.9821	0.0147	0.95336	1
MutationTaster_rankscore	717	0.984	0.0077	0.96888	0.99921
PROVEAN_converted_rankscore	142	0.596	0.068	0.46263	0.72934
PrimateAI_rankscore	141	0.9153	0.0666	0.78482	1
REVEL_rankscore	142	0.9531	0.0217	0.91052	0.99573
SiPhy_29way_logOdds_rankscore	717	0.6476	0.0266	0.59544	0.69976
VEST4_rankscore	717	0.9948	0.0023	0.99039	0.99925
bStatistic_converted_rankscore	717	0.525	0.0271	0.47193	0.57798
fathmm-MKL_coding_rankscore	717	0.6825	0.0281	0.62749	0.73749
fathmm-XF_coding_rankscore	717	0.4945	0.031	0.43373	0.55523
integrated_fitCons_rankscore	717	0.5015	0.0262	0.45006	0.55286
phastCons17way_primate_rankscore	717	0.5545	0.0287	0.49815	0.61085
phyloP17way_primate_rankscore	717	0.4938	0.0341	0.42692	0.56064
MaxEntScan_alt	64	0.1129	0.0416	0.03141	0.19444
MaxEntScan_diff	64	0.8333	0.0496	0.73613	0.93054
MaxEntScan_ref	64	0.3891	0.0843	0.22388	0.55435
SpliceAI_pred_DS_AG	3655	0.5148	0.0048	0.50537	0.52418
SpliceAI_pred_DS_AL	3655	0.5149	0.0029	0.50917	0.52065
SpliceAI_pred_DS_DG	3655	0.5016	0.0032	0.49532	0.5078
SpliceAI_pred_DS_DL	3655	0.5202	0.0032	0.51396	0.52638