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Guide

1. Single-tissue aOutliers in GTEx v8 cohort

Tissue Main Sampling Site Sample Size aOutliers File Name
Adipose - Subcutaneous Subcutaneous tissue beneath the leg's skin sample. 492  Adipose_Subcutaneous.txt 
Adipose - Visceral (Omentum) Adipose tissue on the large fold of parietal peritoneum that hangs down from the greater curvature of the stomach, passing in front of the small intestines. 402  Adipose_Visceral_Omentum.txt 
Adrenal Gland Left, followed by the right if necessary for sufficient aliquots. 200  Adrenal_Gland.txt 
Artery - Aorta Ascending aorta or other thoracic regions (nonatherosclerotic). 338  Artery_Aorta.txt 
Artery - Coronary Left and right, noncalcific regions only. 180  Artery_Coronary.txt 
Artery - Tibial Left Tibial. Peripheral tibial artery from gastrocnemius region 489  Artery_Tibial.txt 
Brain - Amygdala Amygdala (sampled at Miami Brain Bank and preserved as fresh frozen tissue). 119  Brain_Amygdala.txt 
Brain - Anterior cingulate cortex (BA24) Anterior cingulate cortex (sampled at Miami Brain Bank and preserved as fresh frozen tissue). 136  Brain_Anterior_cingulate_cortex_BA24.txt 
Brain - Caudate (basal ganglia) Caudate (sampled at Miami Brain Bank and preserved as fresh frozen tissue). 173  Brain_Caudate_basal_ganglia.txt 
Brain - Cerebellar Hemisphere Cerebellar hemisphere (sampled at Miami Brain Bank and preserved as fresh frozen tissue). 158  Brain_Cerebellar_Hemisphere.txt 
Brain - Cerebellum Right cerebellum (sampled at donor collection site and preserved in PAXgene fixative). 189  Brain_Cerebellum.txt 
Brain - Cortex Right cerebral frontal pole cortex (sampled at donor collection site and preserved in PAXgene fixative). 184  Brain_Cortex.txt 
Brain - Frontal Cortex (BA9) Right cerebral frontal pole cortex (sampled at Miami Brain Bank and preserved as fresh frozen tissue). 158  Brain_Frontal_Cortex_BA9.txt 
Brain - Hippocampus Hippocampus (sampled at Miami Brain Bank and preserved as fresh frozen tissue). 151  Brain_Hippocampus.txt 
Brain - Hypothalamus Hypothalamus (sampled at Miami Brain Bank and preserved as fresh frozen tissue). 157  Brain_Hypothalamus.txt 
Brain - Nucleus accumbens (basal ganglia) Nucleus accumbens basal ganglia (sampled at Miami Brain Bank and preserved as fresh frozen tissue). 182  Brain_Nucleus_accumbens_basal_ganglia.txt 
Brain - Putamen (basal ganglia) Putamen basal ganglia (sampled at Miami Brain Bank and preserved as fresh frozen tissue). 154  Brain_Putamen_basal_ganglia.txt 
Brain - Spinal cord (cervical c-1) Spinal cord (sampled at Miami Brain Bank and preserved as fresh frozen tissue). 115  Brain_Spinal_cord_cervical_c-1.txt 
Brain - Substantia nigra Substantia nigra (sampled at Miami Brain Bank and preserved as fresh frozen tissue). 101  Brain_Spinal_cord_cervical_c-1.txt 
Breast - Mammary Tissue Central breast subareolar region of the right breast, 1-2 cm under the skin surface of nipple region. 337  Breast_Mammary_Tissue.txt 
Cells - Cultured fibroblasts Cultured primary fibroblasts. 416  Cells_EBV-transformed_lymphocytes.txt 
Cells - EBV-transformed lymphocytes Transformed lymphocytes. 116  Cells_Cultured_fibroblasts.txt 
Colon - Sigmoid Sigmoid colon, Obtain muscularis only; discard mucosa. 273  Colon_Sigmoid.txt 
Colon - Transverse Transverse, Full thickness: mucosa and muscularis 305  Colon_Transverse.txt 
Esophagus - Gastroesophageal Junction Muscularis propria in the lowest portion of the esophagus just proximal to the stomach. 281  Esophagus_Gastroesophageal_Junction.txt 
Esophagus - Mucosa Squamous region (distal/lower third), at least 4 cm above gastroesophageal junction. 424  Esophagus_Mucosa.txt 
Esophagus - Muscularis Squamous region (distal/lower third), at least 4 cm above gastroesophageal junction. 396  Esophagus_Muscularis.txt 
Heart - Atrial Appendage Right atrial appendage, tip (if fatty or discolored, take more proximally) 322  Heart_Atrial_Appendage.txt 
Heart - Left Ventricle Anterior left ventricle, 1 cm above apex and 1 cm from left anterior descending coronary artery. 334  Heart_Left_Ventricle.txt 
Kidney - Cortex Left kidney cortex. 65  Kidney_Cortex.txt 
Liver Central right lobe, 1 cm below capsule. 183  Liver.txt 
Lung Inferior segment of left upper lobe, 1 cm below the pleural surface. 444  Lung.txt 
Minor Salivary Gland Inner surface of lower lip. 118  Muscle_Skeletal.txt 
Muscle - Skeletal The gastrocnemius muscle, 2 cm below the patella. 602  Muscle_Skeletal.txt 
Nerve - Tibial Left tibial. Peripheral tibial nerve from gastrocnemius region 449  Nerve_Tibial.txt 
Ovary Most normal regions of the left ovary (and right if necessary to obt ain sufficient aliquots). 140  Ovary.txt 
Pancreas Mid-portion (not tail). 252  Pancreas.txt 
Pituitary Entire pituitary gland. 220  Pituitary.txt 
Prostate Non-nodular region of representative region. 186  Prostate.txt 
Skin - Not Sun Exposed (Suprapubic) Extension of the abdominal incision to the suprapubic area avoiding pubic hair. 440  Skin_Not_Sun_Exposed.gz 
Skin - Sun Exposed (Lower leg) Left or right leg 2 cm below patella on medial side. 518  Skin_Sun_Exposed.txt 
Small Intestine - Terminal Ileum Thickened mucosa corresponding to lymphoid nodules (Peyer Patches) just proximal to the ileocecal valve in the most distal part of the small intestine. 444  Small_Intestine_Terminal_Ileum.txt 
Spleen Central region, 5 mm below capsule. 185  Spleen.txt 
Stomach Body (Gently rinse mucosa with normal saline before aliquot preparation) 269  Stomach.txt 
Testis Left testis (and right testis if necessary to obtain sufficient tissue for aliquots). 277  Testis.txt 
Thyroid Most grossly non-nodular normal regions from either side (whichever side is observed to be more normal). 494  Thyroid.txt 
Uterus Corpus. Bivalve uterus along endocervical canal to fundus. 108  Uterus.txt 
Vagina Anterior. 122  Vagina.txt 
Whole Blood Femoral vein; subclavian vein and heart are other possible sites. 574  Whole_Blood.txt 

2. Multi-tissue aOutliers

  •  aOutliers_multi-tissue.txt 

    • 3. Download page provides all the related data of the aWatershed model model.

  • Evaluate file of the aWatershed model model:    aWatershed_model.evaluation.rds 

    • 4. Supplementary Data: aWatershed prioritized RVs that exist in UKBB GWAS summary statistics data.

  •  Supplementary_Data.aWatershed_prioritized_RV_in_UKBB.xlsx