diff --git a/src/bench/NM_000257.3(MYH7):c.3036C>T_output.csv b/src/bench/NM_000257.3(MYH7):c.3036C>T_output.csv new file mode 100644 index 0000000..9725132 --- /dev/null +++ b/src/bench/NM_000257.3(MYH7):c.3036C>T_output.csv @@ -0,0 +1,194 @@ +{ + "pvs1":{ + "name":"PVS1", + "prediction":", + "summary":"", + "description":"PVS1 prediction failed." + }, + "ps1":{ + "name":"PS1", + "prediction":", + "summary":"Error occurred during PS1/PM5 prediction. Error: No valid primary variant information for PS1/PM5 prediction.", + "description":"" + }, + "ps2":{ + "name":"PS2", + "prediction":", + "summary":"", + "description":"" + }, + "ps3":{ + "name":"PS3", + "prediction":", + "summary":"", + "description":"" + }, + "ps4":{ + "name":"PS4", + "prediction":", + "summary":"", + "description":"" + }, + "pm1":{ + "name":"PM1", + "prediction":", + "summary":"Counting pathogenic variants in the range of 50bp.The range is 23892794 - 23892844. => + Found 0 Pathogenic variants. => + Found less than 4 pathogenic variants.Checking if the variant is in a UniProt domain. => + Check if the variant is in a UniProt domain. + Counting pathogenic variants in the UniProt domain. The range is 23892755 - 23892932. => + Found less than 2 pathogenic variants in the UniProt domain. PM1 is not met.", + "description":"" + }, + "pm2":{ + "name":"PM2", + "prediction":", + "summary":"Check allele frequency for the control population. + Allele frequency: 0.001873719971626997.Allele frequency <= 1%: PM2 is met.Check zygosity.", + "description":"" + }, + "pm3":{ + "name":"PM3", + "prediction":", + "summary":"", + "description":"" + }, + "pm4":{ + "name":"PM4", + "prediction":", + "summary":"Check consequences of the variant for PM4. + Variant consequence is not indel or stop-loss. PM4 and BP3 are not met.Check if the variant is in a repeat region. + Variant is in a repeat region.", + "description":"" + }, + "pm5":{ + "name":"PM5", + "prediction":", + "summary":"Error occurred during PS1/PM5 prediction. Error: No valid primary variant information for PS1/PM5 prediction.", + "description":"" + }, + "pm6":{ + "name":"PM6", + "prediction":", + "summary":"", + "description":"" + }, + "pp1":{ + "name":"PP1", + "prediction":", + "summary":"", + "description":"" + }, + "pp2":{ + "name":"PP2", + "prediction":", + "summary":"Fetching transcript data. => + Error occurred during PP2 and BP1 prediction. Error: Transcript data is not fully set. Cannot initialize the PVS1 class.", + "description":"" + }, + "pp3":{ + "name":"PP3", + "prediction":", + "summary":"Checking Scores. => + An error occurred during prediction. Error: Missing dbNSFP data.", + "description":"" + }, + "pp4":{ + "name":"PP4", + "prediction":", + "summary":"", + "description":"" + }, + "pp5":{ + "name":"PP5", + "prediction":", + "summary":"", + "description":"" + }, + "ba1":{ + "name":"BA1", + "prediction":", + "summary":"Check allele frequency for the control population. + Allele frequency: 0.001873719971626997. + Allele frequency <= 1%: PM2 is met.Check zygosity.", + "description":"" + }, + "bs1":{ + "name":"BS1", + "prediction":", + "summary":"Check allele frequency for the control population. + Allele frequency: 0.001873719971626997. + Allele frequency <= 1%: PM2 is met.Check zygosity.", + "description":"" + }, + "bs2":{ + "name":"BS2", + "prediction":", + "summary":"Check allele frequency for the control population. + Allele frequency: 0.001873719971626997. + Allele frequency <= 1%: PM2 is met.Check zygosity.", + "description":"" + }, + "bs3":{ + "name":"BS3", + "prediction":", + "summary":"", + "description":"" + }, + "bs4":{ + "name":"BS4", + "prediction":", + "summary":"", + "description":"" + }, + "bp1":{ + "name":"BP1", + "prediction":", + "summary":"", + "description":"" + }, + "bp2":{ + "name":"BP2", + "prediction":", + "summary":"", + "description":"" + }, + "bp3":{ + "name":"BP3", + "prediction":", + "summary":"Check consequences of the variant for PM4. + Variant consequence is not indel or stop-loss. PM4 and BP3 are not met.Check if the variant is in a repeat region. + Variant is in a repeat region.", + "description":"" + }, + "bp4":{ + "name":"BP4", + "prediction":", + "summary":"Checking Scores. => + An error occurred during prediction. Error: Missing dbNSFP data.", + "description":"" + }, + "bp5":{ + "name":"BP5", + "prediction":", + "summary":"", + "description":"" + }, + "bp6":{ + "name":"BP6", + "prediction":", + "summary":"", + "description":"" + }, + "bp7":{ + "name":"BP7", + "prediction":", + "summary":"Checking for pathogenic variants in the range of 2bp. => + No pathogenic variants found in the range of 2bp. => + Checking for proximity to splice site. => + Variant is not within 2bp of a splice site. => + Predicting splice site alterations using SpliceAI. => + Variant is not a splice site alteration. BP7 is met.", + "description":"" + } +}