TRG gene segment usage as indicated by the recovery of TRG recombination reads from exome or RNAseq files

Source of recombination readsDiseaseBlood or other tissue processedFraction V9 of all TRG recombination readsFraction JP of all TRG recombination readsFraction V9-JP recombination of all TRG recombination readsTwo-proportion test comparing V9-JP percentages, for ALS/PDFraction retention of JP KKIK motifSOM fileProject
TRG recombination reads mined from exome filesALS, familialBlood15/1616/1615/16The data in preceding column of this row is used for below 2-proportion tests, left-side value in succeeding rows16/16Table S1phs000101
PDBlood33/3737/3733/37The data of the preceding column of this row is used for below 2-proportion tests, right-side value in succeeding rows35/37Table S2phs001172
ESCABlood23/1365/1365/136< 0.0001/< 0.00015/5Table S3TCGA-ESCA
LUSCBlood74/49323/49320/493< 0.0001/< 0.000122/23Table S4TCGA-LUSC
COADBlood55/23923/23921/239< 0.0001/< 0.000120/23Table S5TCGA-COAD
STADBlood102/44941/44930/449< 0.0001/< 0.000140/41Table S6TCGA-STAD
MelanomaBlood223/95381/95372/953< 0.0001/< 0.000181/81Table S7TCGA-SKCM
Multiple myelomaBlood1,007/9,081223/9,081134/9,081< 0.0001/< 0.0001207/223Table S8COMPASS-MMRF
WTBlood113/62019/62011/620< 0.0001/< 0.000117/19Table S9TARGET-WT
NBLBlood283/725138/725129/725< 0.0001/< 0.0001135/138Table S10TARGET-NBL
TRG recombination reads mined from RNAseq filesALSBlood11,381/29,1706,189/29,1706,078/29,170The data of the preceding column in this row is used for the 2-proportion tests in succeeding rows6,014/6,189Table S11phs002055
WTTumor28/6511/6511/65NS/NA11/11Table S12TARGET-WT
DLBCLLymph node2,169/9,911253/9,911211/9,911< 0.0001/NA233/253Table S13NCICCR-DLBCL
NBLTumor456/1,79999/1,79998/1,799< 0.0001/NA98/99Table S14TARGET-NBL

All 2-proportion test comparisons of ALS and PD are with non-neurological diseases, and the recovery of all TRG recombination reads are in the SOM Tables. Note, WXS results were compared to WXS results; RNAseq results were compared to RNAseq results (Table S15). Phs numbers can be accessed at dbGaP. The acronyms in the last column are defined here and at the genomic data commons. NS: not significant; NA: not applicable; TCGA: The Cancer Genome Atlas; ESCA: esophageal cancer; LUSC: lung squamous cell carcinoma; COAD: colon adenocarcinoma; STAD: stomach adenocarcinoma; SKCM: skin cutaneous melanoma; MMRF: Multiple Myeloma Research Foundation; TARGET: Therapeutically Applicable Research to Generate Effective Treatment; WT: Wilms tumor; NCICCR: National Cancer Institute Center for Cancer Research; DLBCL: diffuse large B-cell lymphoma; NBL: neuroblastoma