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H2M Output Data Description

H2M generates a series of outputs that correspond to the human and mouse nucleotide and amino acid changes associated with a given mutation. The full description of this output is provided below:

Column	Description
gene_name_h	Human gene name
gene_id_h	Human gene ID
tx_id_h	Human transcript ID
chr_h	Human chromosome number
exon_num_h	Total number of exons of the human transcript
strand_h	Positive or Negative strand of the human transcript on the chromosome
match	The computed reference sequence by given coordinate is matched with the input reference sequence or not
start_h \| end_h	Start and end position of the human variant on the chromosome in MAF format
ref_seq_h \| alt_seq_h	Reference and alternate sequence of the human variant on the chromosome in MAF format
HGVSc_h \| HGVSp_h	HGVSc and HGVSp expression of the human variant
classification_h	Human variant effect classification, including missense/nonsense/in-frame indel/fram-shift indel/intron, etc.
exon_h	Exon/Intron location of the given human mutation, for example, E_7/I_5
type_h	Human variant type in MAF format, including SNP/DNP/TNP/ONP/INS/DEL
status	This mutation can be modeled in the given target transcript or not, True or False
class	H2M modeling result class, 0-5
statement	Statement of the H2M result class
flank_size_left \| flank_size_right	Length of the identical sequences between human and mouse on the left/right side of the mutation
gene_name_m	Mouse gene name
gene_id_m	Mouse gene ID
tx_id_m	Mouse transcript ID
chr_m	Mouse chromosome number
exon_num_m	Total number of exons of the mouse transcript
strand_m	Positive or negative strand of the mouse transcript on the chromosome
type_m	Mouse variant type in MAF format, including SNP/DNP/TNO/ONP/INS/DEL
classification_m	Mouse variant effect classification
exon_m	Exon/Intron location of the murine mutation
start_m_ori \| end_m_ori	Start and end position of the mouse variant (with exactly the same DNA change) on the chromosome in MAF format
ref_seq_m_ori \| alt_seq_m_ori	Reference and alternate sequence of the mouse variant (with exactly the same DNA change) on the chromosome in MAF format
HGVSc_m_ori \| HGVSp_m_ori	HGVSc and HGVSp expression of the mouse variant (with exactly the same DNA change)
start_m \| end_m	Start and end position of the mouse variant (with the same amino acid change) on the chromosome in MAF format
ref_seq_m \| alt_seq_m	Reference and alternate sequence of the mouse variant (with the same amino acid change) on the chromosome in MAF format
HGVSc_m \| HGVSp_m	HGVSc and HGVSp expression of the mouse variant (with the same amino acid change)

H2M Modeling Class Description

Class	Statement
Class 0	This mutation can be originally modeled (i.e. same DNA change & and same amino acid change).
Class 1	This mutation can be alternatively modeled (i.e. different DNA change to generate the same amino acid change).
Class 2	This mutation can be modeled, but the effect may not be consistent (i.e. same DNA change, but of uncertain effect–usually limited to noncoding regions).
Class 3	This mutation cannot be originally modeled and no alternative is found.
Class 4	Mutated sequences are not identical.
Class 5	Coordinate error. This mutation is not in the query gene.
Class 6	This mutation cannot be originally modeled.