diff --git a/tests/annotations/test_annotations.py b/tests/annotations/test_annotations.py index 4f4482be..2865978b 100644 --- a/tests/annotations/test_annotations.py +++ b/tests/annotations/test_annotations.py @@ -288,4 +288,40 @@ def test_merge_deepsea_pcas( written_results = pd.read_parquet(output_path) expected_results = pd.read_parquet(expected_path) assert written_results.shape == expected_results.shape - assert_frame_equal(written_results, expected_results[written_results.columns], check_exact = False) \ No newline at end of file + assert_frame_equal(written_results, expected_results[written_results.columns], check_exact = False) + + +@pytest.mark.parametrize( + "test_data_name_dir, annotations, abSplice_score_dir, njobs, expected", + [ + ( + "aggregate_absplice_scores_small", + "vep_deepripe_deepsea.parquet", + "absplice_res_dir", + "8", + "abSplice_score_file.parquet", + ), + ] +) +def test_aggregate_abscores( + test_data_name_dir, annotations, abSplice_score_dir, njobs, expected, tmp_path +): + current_test_data_dir = tests_data_dir / 'aggregate_absplice_scores' / test_data_name_dir + annotations_path = current_test_data_dir / 'input' / annotations + abscore_path = current_test_data_dir / 'input' /abSplice_score_dir + expected_path = current_test_data_dir / 'expected' / expected + output_path = tmp_path / 'out.parquet' + cli_runner = CliRunner() + cli_parameters = [ + 'aggregate-abscores', + annotations_path.as_posix(), + abscore_path.as_posix(), + output_path.as_posix(), + njobs + ] + result = cli_runner.invoke(annotations_cli, cli_parameters, catch_exceptions=False) + assert result.exit_code == 0 + written_results = pd.read_parquet(output_path) + expected_results = pd.read_parquet(expected_path) + assert written_results.shape == expected_results.shape + assert_frame_equal(written_results, expected_results[written_results.columns], check_exact = False) diff --git a/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/expected/abSplice_score_file.parquet b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/expected/abSplice_score_file.parquet new file mode 100644 index 00000000..2cef8024 Binary files /dev/null and b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/expected/abSplice_score_file.parquet differ diff --git a/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/absplice_res_dir/chr3test_variants_header.vcf.gz_AbSplice_DNA.csv b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/absplice_res_dir/chr3test_variants_header.vcf.gz_AbSplice_DNA.csv new file mode 100644 index 00000000..60f5e03a --- /dev/null +++ b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/absplice_res_dir/chr3test_variants_header.vcf.gz_AbSplice_DNA.csv @@ -0,0 +1,193 @@ +variant,gene_id,tissue,delta_logit_psi,delta_psi,delta_score,splice_site_is_expressed,AbSplice_DNA +chr3:13336897:T>A,ENSG00000132182,Adrenal_Gland,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Pituitary,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Esophagus_Mucosa,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Kidney_Cortex,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Liver,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Lung,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Minor_Salivary_Gland,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Pancreas,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Prostate,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Cells_EBV_transformed_lymphocytes,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Small_Intestine_Terminal_Ileum,0.1271947632745491,0.0013409990441992,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Spleen,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Stomach,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Testis,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Thyroid,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Colon_Transverse,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Whole_Blood,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Brain_Cortex,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Brain_Nucleus_accumbens_basal_ganglia,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Brain_Hypothalamus,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Brain_Caudate_basal_ganglia,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Brain_Cerebellar_Hemisphere,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Brain_Cerebellum,-0.0987188615790356,-0.0010261192228098,0.0,1,0.002860864576028723 +chr3:13336897:T>A,ENSG00000132182,Breast_Mammary_Tissue,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Vagina,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Uterus,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Artery_Aorta,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Artery_Coronary,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Artery_Tibial,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Amygdala,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Anterior_cingulate_cortex_BA24,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Skin_Sun_Exposed_Lower_leg,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Skin_Not_Sun_Exposed_Suprapubic,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Ovary,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Substantia_nigra,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Nerve_Tibial,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Muscle_Skeletal,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Frontal_Cortex_BA9,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Hippocampus,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Heart_Left_Ventricle,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Heart_Atrial_Appendage,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Adipose_Visceral_Omentum,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Putamen_basal_ganglia,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Esophagus_Gastroesophageal_Junction,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Brain_Spinal_cord_cervical_c_1,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Colon_Sigmoid,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Esophagus_Muscularis,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Adipose_Subcutaneous,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Adipose_Visceral_Omentum,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Pituitary,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Heart_Left_Ventricle,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Kidney_Cortex,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Liver,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Lung,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Minor_Salivary_Gland,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Muscle_Skeletal,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Nerve_Tibial,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Ovary,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Pancreas,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Prostate,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Esophagus_Muscularis,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Skin_Not_Sun_Exposed_Suprapubic,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Skin_Sun_Exposed_Lower_leg,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Small_Intestine_Terminal_Ileum,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Spleen,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Stomach,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Testis,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Thyroid,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Uterus,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Vagina,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Heart_Atrial_Appendage,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Esophagus_Mucosa,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Adrenal_Gland,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Frontal_Cortex_BA9,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Artery_Aorta,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Artery_Coronary,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Artery_Tibial,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Amygdala,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Anterior_cingulate_cortex_BA24,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Caudate_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Cerebellar_Hemisphere,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Cerebellum,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Cortex,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Hippocampus,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Esophagus_Gastroesophageal_Junction,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Hypothalamus,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Nucleus_accumbens_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Putamen_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Spinal_cord_cervical_c_1,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Brain_Substantia_nigra,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Breast_Mammary_Tissue,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Cells_EBV_transformed_lymphocytes,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Colon_Sigmoid,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Colon_Transverse,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Adipose_Subcutaneous,,,0.0,0,0.0005700424787606313 +chr3:13336897:T>A,ENSG00000132182,Adipose_Subcutaneous,-0.0987188615790356,-0.0010261192228098,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Adipose_Visceral_Omentum,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Whole_Blood,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Heart_Atrial_Appendage,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Heart_Left_Ventricle,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Kidney_Cortex,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Liver,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Lung,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Minor_Salivary_Gland,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Muscle_Skeletal,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Nerve_Tibial,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Ovary,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Pancreas,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Pituitary,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Prostate,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Skin_Not_Sun_Exposed_Suprapubic,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Skin_Sun_Exposed_Lower_leg,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Small_Intestine_Terminal_Ileum,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Spleen,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Stomach,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Testis,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Thyroid,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Uterus,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Vagina,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Esophagus_Muscularis,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Esophagus_Mucosa,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Esophagus_Gastroesophageal_Junction,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Cortex,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Adrenal_Gland,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Artery_Aorta,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Artery_Coronary,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Artery_Tibial,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Amygdala,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Anterior_cingulate_cortex_BA24,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Caudate_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Cerebellar_Hemisphere,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Cerebellum,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Frontal_Cortex_BA9,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Colon_Transverse,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Hippocampus,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Hypothalamus,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Nucleus_accumbens_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Putamen_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Spinal_cord_cervical_c_1,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Brain_Substantia_nigra,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Breast_Mammary_Tissue,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Cells_EBV_transformed_lymphocytes,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Colon_Sigmoid,,,0.0,0,0.0005700424787606313 +chr3:10151779:G>T,ENSG00000134086,Whole_Blood,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Adipose_Subcutaneous,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Adipose_Visceral_Omentum,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Pituitary,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Heart_Left_Ventricle,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Kidney_Cortex,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Liver,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Lung,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Minor_Salivary_Gland,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Muscle_Skeletal,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Nerve_Tibial,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Ovary,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Pancreas,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Prostate,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Esophagus_Muscularis,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Skin_Not_Sun_Exposed_Suprapubic,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Skin_Sun_Exposed_Lower_leg,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Small_Intestine_Terminal_Ileum,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Spleen,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Stomach,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Testis,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Thyroid,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Uterus,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Vagina,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Heart_Atrial_Appendage,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Esophagus_Mucosa,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Adrenal_Gland,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Frontal_Cortex_BA9,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Artery_Aorta,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Artery_Coronary,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Artery_Tibial,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Amygdala,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Anterior_cingulate_cortex_BA24,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Caudate_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Cerebellar_Hemisphere,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Cerebellum,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Cortex,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Hippocampus,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Esophagus_Gastroesophageal_Junction,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Hypothalamus,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Nucleus_accumbens_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Putamen_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Spinal_cord_cervical_c_1,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Brain_Substantia_nigra,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Breast_Mammary_Tissue,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Cells_EBV_transformed_lymphocytes,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Colon_Sigmoid,,,0.0,0,0.0005700424787606313 +chr3:125013245:A>G,ENSG00000173706,Colon_Transverse,,,0.0,0,0.0005700424787606313 +chr3:139349025:T>C,ENSG00000175110,Whole_Blood,,,0.0,0,0.0005700424787606313 diff --git a/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/absplice_res_dir/chr4test_variants_header.vcf.gz_AbSplice_DNA.csv b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/absplice_res_dir/chr4test_variants_header.vcf.gz_AbSplice_DNA.csv new file mode 100644 index 00000000..db7d0c74 --- /dev/null +++ b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/absplice_res_dir/chr4test_variants_header.vcf.gz_AbSplice_DNA.csv @@ -0,0 +1,246 @@ +variant,gene_id,tissue,delta_logit_psi,delta_psi,delta_score,splice_site_is_expressed,AbSplice_DNA +chr4:169007628:T>C,ENSG00000145439,Brain_Cerebellar_Hemisphere,-0.2924805955494345,-0.0588679816775568,0.05,1,0.006833637741834292 +chr4:169007628:T>C,ENSG00000145439,Brain_Cerebellum,-0.2924805955494345,-0.0573214450667628,0.05,1,0.006833637741834292 +chr4:169007628:T>C,ENSG00000145439,Brain_Substantia_nigra,-0.2924805955494345,-0.0566263142416471,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Nucleus_accumbens_basal_ganglia,-0.2924805955494345,-0.0542171459327623,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Hypothalamus,-0.2924805955494345,-0.0537109292025781,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Hippocampus,-0.2924805955494345,-0.0513790826672216,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Frontal_Cortex_BA9,-0.2924805955494345,-0.0539980667521867,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Cortex,-0.2924805955494345,-0.0520890438905559,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Putamen_basal_ganglia,-0.2924805955494345,-0.0551813984735419,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Caudate_basal_ganglia,-0.2924805955494345,-0.052206396676825,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Anterior_cingulate_cortex_BA24,-0.2924805955494345,-0.0537744175754923,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Amygdala,-0.2924805955494345,-0.0538417662920955,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Ovary,-0.2924805955494345,-0.0453503859773065,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Brain_Spinal_cord_cervical_c_1,-0.2924805955494345,-0.0510839631880544,0.05,1,0.006522249142751264 +chr4:169007628:T>C,ENSG00000145439,Pituitary,-0.2924805955494345,-0.0341719319284121,0.05,1,0.005140125524902324 +chr4:169007628:T>C,ENSG00000145439,Nerve_Tibial,-0.2924805955494345,-0.0339228709569385,0.05,1,0.004484302690380517 +chr4:169007628:T>C,ENSG00000145439,Thyroid,-0.2924805955494345,-0.0328589953455117,0.05,1,0.004480573733525163 +chr4:169007628:T>C,ENSG00000145439,Uterus,-0.2924805955494345,-0.0310821996594723,0.05,1,0.004480573733525163 +chr4:169007628:T>C,ENSG00000145439,Artery_Tibial,-0.2924805955494345,-0.0287037168558088,0.05,1,0.004480573733525163 +chr4:169007628:T>C,ENSG00000145439,Artery_Aorta,-0.2924805955494345,-0.0303005879830458,0.05,1,0.004480573733525163 +chr4:169007628:T>C,ENSG00000145439,Esophagus_Gastroesophageal_Junction,-0.2924805955494345,-0.0280732952512678,0.05,1,0.0043930876001134845 +chr4:169007628:T>C,ENSG00000145439,Kidney_Cortex,-0.2924805955494345,-0.0267086965806592,0.05,1,0.0043930876001134845 +chr4:169007628:T>C,ENSG00000145439,Artery_Coronary,-0.2924805955494345,-0.0273913899791004,0.05,1,0.0043930876001134845 +chr4:169007628:T>C,ENSG00000145439,Vagina,-0.2924805955494345,-0.0260689205351327,0.05,1,0.004273871261352944 +chr4:169007628:T>C,ENSG00000145439,Esophagus_Muscularis,-0.2924805955494345,-0.0255090745923955,0.05,1,0.0040471476529160035 +chr4:169007628:T>C,ENSG00000145439,Adipose_Subcutaneous,-0.2924805955494345,-0.0249133133651749,0.05,1,0.0040471476529160035 +chr4:169007628:T>C,ENSG00000145439,Breast_Mammary_Tissue,-0.2924805955494345,-0.0240961278969513,0.05,1,0.003882386621127518 +chr4:169007628:T>C,ENSG00000145439,Colon_Sigmoid,-0.2924805955494345,-0.024098663506736,0.05,1,0.003882386621127518 +chr4:169007628:T>C,ENSG00000145439,Prostate,-0.2924805955494345,-0.0236635694806509,0.05,1,0.003882386621127518 +chr4:169007628:T>C,ENSG00000145439,Lung,-0.2924805955494345,-0.0231295590665679,0.05,1,0.0035359001894868835 +chr4:169007628:T>C,ENSG00000145439,Adipose_Visceral_Omentum,-0.2924805955494345,-0.0229348909817636,0.05,1,0.0035359001894868835 +chr4:169007628:T>C,ENSG00000145439,Cells_EBV_transformed_lymphocytes,-0.2924805955494345,-0.0151715165568312,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Testis,-0.2924805955494345,-0.0181086649405058,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Heart_Atrial_Appendage,-0.2924805955494345,-0.0166600789232371,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Minor_Salivary_Gland,-0.2924805955494345,-0.0219233810154098,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Muscle_Skeletal,-0.2924805955494345,-0.0219827204341519,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Esophagus_Mucosa,-0.2924805955494345,-0.0160150577921673,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Pancreas,-0.2924805955494345,-0.0193831257243948,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Colon_Transverse,-0.2924805955494345,-0.0153900794275066,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Skin_Not_Sun_Exposed_Suprapubic,-0.2924805955494345,-0.019492169216431,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Skin_Sun_Exposed_Lower_leg,-0.2924805955494345,-0.0200246209787826,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Small_Intestine_Terminal_Ileum,-0.2924805955494345,-0.0164571845860465,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Spleen,-0.2924805955494345,-0.0185292383145769,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Stomach,-0.2924805955494345,-0.019371217400388,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Liver,-0.2924805955494345,-0.0151578033921386,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Adrenal_Gland,-0.2924805955494345,-0.0178600541748558,0.05,1,0.003530657395908191 +chr4:169007628:T>C,ENSG00000145439,Heart_Left_Ventricle,-0.2924805955494345,-0.0148995068950208,0.05,1,0.0030678102944556164 +chr4:169007628:T>C,ENSG00000145439,Cells_Cultured_fibroblasts,-0.2924805955494345,-0.0132909983842892,0.05,1,0.0030678102944556164 +chr4:86734352:C>T,ENSG00000163629,Skin_Sun_Exposed_Lower_leg,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Vagina,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Uterus,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Artery_Tibial,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Thyroid,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Testis,0.2628502134288226,0.0030646066609705,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Breast_Mammary_Tissue,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Esophagus_Mucosa,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Prostate,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Pituitary,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Ovary,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Nerve_Tibial,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Kidney_Cortex,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Cells_Cultured_fibroblasts,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Artery_Coronary,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Skin_Not_Sun_Exposed_Suprapubic,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Adipose_Visceral_Omentum,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:86734352:C>T,ENSG00000163629,Adipose_Subcutaneous,0.2628502134288226,0.0022936167070785,0.0,1,0.0028656508177969994 +chr4:122258831:A>T,ENSG00000138688,Adipose_Visceral_Omentum,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Artery_Tibial,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Frontal_Cortex_BA9,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Cortex,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Cerebellum,-0.0024281248594303,-3.241125210099068e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Cerebellar_Hemisphere,-0.0024281248594303,-2.7290232610815285e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Caudate_basal_ganglia,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Anterior_cingulate_cortex_BA24,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Amygdala,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Artery_Coronary,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Hippocampus,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Artery_Aorta,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Adipose_Visceral_Omentum,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Adipose_Subcutaneous,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Putamen_basal_ganglia,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Breast_Mammary_Tissue,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Cells_Cultured_fibroblasts,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Esophagus_Muscularis,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Lung,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Prostate,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:77035112:G>A,ENSG00000138758,Brain_Nucleus_accumbens_basal_ganglia,-0.0024281248594303,-2.400985783492307e-05,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Adipose_Subcutaneous,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Esophagus_Muscularis,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Brain_Cerebellum,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Cells_EBV_transformed_lymphocytes,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Vagina,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Uterus,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Colon_Sigmoid,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Thyroid,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Testis,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Breast_Mammary_Tissue,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Cells_Cultured_fibroblasts,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Small_Intestine_Terminal_Ileum,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Skin_Sun_Exposed_Lower_leg,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Brain_Cortex,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Skin_Not_Sun_Exposed_Suprapubic,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Esophagus_Gastroesophageal_Junction,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Pituitary,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Ovary,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Nerve_Tibial,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Minor_Salivary_Gland,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Lung,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Artery_Tibial,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Artery_Coronary,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Artery_Aorta,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:122258831:A>T,ENSG00000138688,Adrenal_Gland,-0.0812138713384427,-0.0008368600811415,0.0,1,0.002860864576028723 +chr4:86734352:C>T,ENSG00000163629,Brain_Cerebellum,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Nucleus_accumbens_basal_ganglia,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Hypothalamus,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Hippocampus,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Cortex,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Artery_Aorta,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Cerebellar_Hemisphere,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Caudate_basal_ganglia,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Anterior_cingulate_cortex_BA24,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Amygdala,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Spinal_cord_cervical_c_1,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Adrenal_Gland,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Putamen_basal_ganglia,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Frontal_Cortex_BA9,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Brain_Substantia_nigra,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Esophagus_Muscularis,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Small_Intestine_Terminal_Ileum,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Stomach,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Pancreas,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Lung,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Heart_Left_Ventricle,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Heart_Atrial_Appendage,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Minor_Salivary_Gland,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Spleen,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Colon_Sigmoid,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Colon_Transverse,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:86734352:C>T,ENSG00000163629,Esophagus_Gastroesophageal_Junction,0.2628502134288226,0.0022936167070785,0.0,0,0.0005709983575454501 +chr4:77035112:G>A,ENSG00000138758,Minor_Salivary_Gland,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Thyroid,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Amygdala,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Testis,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Stomach,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Spleen,-0.0024281248594303,-2.644437717536606e-05,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Nerve_Tibial,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Muscle_Skeletal,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Skin_Sun_Exposed_Lower_leg,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Skin_Not_Sun_Exposed_Suprapubic,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Esophagus_Mucosa,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Pituitary,-0.0024281248594303,-6.753186395330388e-05,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Uterus,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Pancreas,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Ovary,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Small_Intestine_Terminal_Ileum,-0.0024281248594303,-2.400985783492307e-05,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Caudate_basal_ganglia,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Vagina,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Nucleus_accumbens_basal_ganglia,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Liver,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Substantia_nigra,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Spinal_cord_cervical_c_1,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Putamen_basal_ganglia,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:86734352:C>T,ENSG00000163629,Liver,,,0.0,0,0.0005700424787606313 +chr4:86734352:C>T,ENSG00000163629,Muscle_Skeletal,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Hypothalamus,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Whole_Blood,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Hippocampus,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Colon_Transverse,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Frontal_Cortex_BA9,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Cerebellar_Hemisphere,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:86734352:C>T,ENSG00000163629,Cells_EBV_transformed_lymphocytes,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Brain_Anterior_cingulate_cortex_BA24,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Thyroid,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Esophagus_Gastroesophageal_Junction,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Kidney_Cortex,-0.0024281248594303,-4.652301549626717e-05,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Heart_Left_Ventricle,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Heart_Left_Ventricle,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Heart_Atrial_Appendage,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Esophagus_Muscularis,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Esophagus_Mucosa,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Esophagus_Gastroesophageal_Junction,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Colon_Transverse,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Colon_Sigmoid,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Cells_EBV_transformed_lymphocytes,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Cells_Cultured_fibroblasts,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Breast_Mammary_Tissue,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Substantia_nigra,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Spinal_cord_cervical_c_1,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Putamen_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Nucleus_accumbens_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Hypothalamus,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Kidney_Cortex,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Liver,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Lung,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Skin_Sun_Exposed_Lower_leg,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Vagina,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Whole_Blood,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Testis,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Stomach,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Spleen,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Small_Intestine_Terminal_Ileum,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Skin_Not_Sun_Exposed_Suprapubic,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Minor_Salivary_Gland,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Prostate,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Pituitary,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Pancreas,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Ovary,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Nerve_Tibial,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Muscle_Skeletal,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Hippocampus,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Frontal_Cortex_BA9,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Cortex,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Heart_Left_Ventricle,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Muscle_Skeletal,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Brain_Hypothalamus,-0.0024281248594303,-2.400985783492307e-05,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Liver,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Brain_Spinal_cord_cervical_c_1,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Brain_Substantia_nigra,-0.0024281248594303,-3.182189889891322e-05,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Kidney_Cortex,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Cells_EBV_transformed_lymphocytes,-0.0024281248594303,-0.0002068757826844,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Colon_Sigmoid,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Colon_Transverse,-0.0024281248594303,-2.400985783492307e-05,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Uterus,,,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Esophagus_Mucosa,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Heart_Atrial_Appendage,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Heart_Atrial_Appendage,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Pancreas,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Prostate,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Cerebellum,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Artery_Aorta,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Cerebellar_Hemisphere,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Caudate_basal_ganglia,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Anterior_cingulate_cortex_BA24,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Brain_Amygdala,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Artery_Tibial,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Artery_Coronary,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Adrenal_Gland,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Spleen,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Adipose_Visceral_Omentum,,,0.0,0,0.0005700424787606313 +chr4:154609484:A>C,ENSG00000171557,Adipose_Subcutaneous,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Whole_Blood,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:77035112:G>A,ENSG00000138758,Adrenal_Gland,,,0.0,0,0.0005700424787606313 +chr4:122258831:A>T,ENSG00000138688,Stomach,-0.0812138713384427,-0.0008368600811415,0.0,0,0.0005700424787606313 +chr4:86734352:C>T,ENSG00000163629,Whole_Blood,,,0.0,0,0.0005700424787606313 +chr4:169007628:T>C,ENSG00000145439,Whole_Blood,-0.2924805955494345,-0.0136947033424804,0.05,0,0.0005001247511210176 diff --git a/tests/annotations/test_data/merge_deepsea_pcas/merge_deepsea_pcas_small/expected/vep_deepripe_deepsea.parquet b/tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/vep_deepripe_deepsea.parquet similarity index 100% rename from tests/annotations/test_data/merge_deepsea_pcas/merge_deepsea_pcas_small/expected/vep_deepripe_deepsea.parquet rename to tests/annotations/test_data/aggregate_absplice_scores/aggregate_absplice_scores_small/input/vep_deepripe_deepsea.parquet diff --git a/tests/annotations/test_data/merge_deepsea_pcas/merge_deepsea_pcas_small/expected/expected.parquet b/tests/annotations/test_data/merge_deepsea_pcas/merge_deepsea_pcas_small/expected/expected.parquet new file mode 100644 index 00000000..675c2332 Binary files /dev/null and b/tests/annotations/test_data/merge_deepsea_pcas/merge_deepsea_pcas_small/expected/expected.parquet differ