{% macro gtcall_panel(variant, case) %} {% set case_has_capture = ("panel" in case.analysis_types or "wes" in case.analysis_types) %}
GT call {% if variant.is_par %} PAR {% endif %}
{% if variant.category == "cancer" %} {% elif variant.category == "sv" %} {% elif variant.category == "str" %} {% else %} {% if variant.category == "snv" and (variant.is_mitochondrial or case_has_capture) %} {% endif %} {% endif %} {% for sample in variant.samples %} {% if sample.allele_depths %} {% for number in sample.allele_depths %} {% endfor %} {% else %} {% endif %} {% if variant.category == "snv" and (variant.is_mitochondrial or case_has_capture) %} {% endif %} {% if variant.category == "cancer" %} {% set cancer_var = namespace() %} {% if variant.tumor and sample.sample_id == variant.tumor.ind_id %} {% set cancer_var.vaf = variant.tumor.alt_freq|round(4) %} {% elif variant.normal and sample.sample_id == variant.normal.ind_id %} {% set cancer_var.vaf = variant.normal.alt_freq|round(4) %} {% else %} {% set cancer_var.vaf = "N/A" %} {% endif %} {% else %} {% if variant.category == "sv" %} {% elif variant.category == "str" %} {% else %} {% endif %} {% endif %} {% endfor %}
Sample Genotype (GT)
Allele depth (AD)
Variant Allele Frequency (VAF)Copy number
SV quality
Expansion support
Variant Allele Frequency (VAF)
Genotype quality (GQ)
Reference Alternative
{{ sample.display_name }} {{ sample.genotype_call }} {% if number == -1 %} N/A {% else %} {{ number }} {% endif %} N/A N/A {# Using number == number as a test for NaN value numbers here. Given that they exist, NaN values are the only time a number is not considered equal to itself. #} {% if sample.alt_frequency and sample.alt_frequency != -1 and sample.alt_frequency == sample.alt_frequency %} {{ (100*sample.alt_frequency)|round(2) }}% {% else %} N/A {% endif %} {{ cancer_var.vaf }}{{ sample.copy_number or "N/A" }} {% if sample.genotype_quality not in ["None", None, "-1", -1] %} {{ sample.genotype_quality }} {% else %} N/A {% endif %} (VQ {% if variant.quality and variant.quality not in ["None", None, "-1", -1] %} {{variant.quality|round(1)}} {% else %} N/A {% endif%}) {% if sample.so %}{{ sample.so }}{% elif sample.sdr and sample.sdp %}{{ sample.sdr|round(4) }} ({{ sample.sdp|round(4)}}){% endif %}{{ sample.genotype_quality }}
{% endmacro %} {% macro str_db_card(variant) %}
STR locus details
{% if variant.str_status == 'full_mutation' %} {% elif variant.str_status == 'pre_mutation' %} {% else %} {% endif %} {% if variant.str_swegen_mean %} {% endif %} {% for gene in variant.genes %} {% if gene.stripy_link %} {% endif %} {% if gene.stripy_link %} {% endif %} {% endfor %}
Source Value
Normal max{{ variant.str_normal_max }}
Pathologic min{{ variant.str_pathologic_min }}
Motif copies{{ variant.str_mc or "." }} {{ variant.str_status }}
 
SweGen Z-score {% if variant.str_mc %} {{ ((variant.str_mc - variant.str_swegen_mean ) / variant.str_swegen_std) | round(2) }} {% endif %}
SweGen mean{{variant.str_swegen_mean|round(2)}}
SweGen std{{variant.str_swegen_std|round(2)}}
 
gnomAD {{ gene.hgnc_symbol }}
STRipy {{ gene.hgnc_symbol }}
{% endmacro %} {% macro frequencies_table(variant) %} {% for freq_name, value, link in variant.frequencies %} {% endfor %}
Source Frequency
{% if link %} {{ freq_name }} {% else %} {{ freq_name }} {% endif %} {% if value %} {{ value|human_decimal }} {% else %} - {% endif %}
{% endmacro %} {% macro frequencies(variant) %}
Frequencies
{{ frequencies_table(variant) }}
{% endmacro %} {% macro observation_badge(observed_case) %} {% if observed_case.variant and observed_case.variant.category == "snv"%} {{ observed_case.case.display_name }} {% elif observed_case.variant and observed_case.variant.category == "sv"%} {{ observed_case.case.display_name }} {% else %} {{ observed_case.case.display_name }} {% endif %} {% endmacro %} {% macro observations_panel(variant, observations, case) %}
Local observations ?
{% for loqusid, obs in observations.items() %} {% set obs_count = obs.observations %} {% if obs.cases or obs.observations == 1 %} {% endif %} {% endfor %}
ID Nr obs. Nr homo. Total nr.
{{ loqusid }} {{ render_obs(obs_count) }} {{ render_obs(0 if obs_count == 0 else obs.homozygote) }} {{ render_obs(obs.total) }}
{% if obs.observations == 1 %} {% if obs.case_match == True %} Observed only in this case {% elif obs.case_match == False %} Observed in one other case {% endif %} {% endif %} {% for observed_case in obs.cases %} {% if loop.index <= 10 %} {{ observation_badge(observed_case) }} {% endif %} {% endfor %} {% if obs.cases|length > 10 %} {% for observed_case in obs.cases %} {% if loop.index > 10 %} {{ observation_badge(observed_case) }} {% endif %} {% endfor %} {% endif %}
{% endmacro %} {% macro render_obs(value) %} {% if value is not defined or value is none or value == -1 %} N/A {% else %} {{ value }} {% endif %} {% endmacro %} {% macro old_observations_table(variant) %} {% macro render_freq(freq, obs, nr_cases) -%} {% if freq is defined and freq is not none %} {{ freq|round(6) }} {% elif nr_cases and obs is defined and obs is not none and obs != -1 %} {{ (obs / nr_cases)|round(5) }} {% elif nr_cases %} 0 / {{ nr_cases }} {% else %} N/A {% endif %} {%- endmacro %} {% set obs_count = variant.local_obs_old %} {% if variant.category in ['cancer', 'cancer_sv'] %} {% set obs_count = variant.local_obs_cancer_germline_old %} {% set obs_count = variant.local_obs_cancer_somatic_old %} {% set obs_count = variant.local_obs_cancer_somatic_panel_old %} {% endif %}
Local archive Nr obs. Nr homo. Frequency
RD {{ render_obs(obs_count) }} {{ render_obs(0 if obs_count == 0 else variant.local_obs_hom_old) }} {{ render_freq(variant.local_obs_old_freq, variant.local_obs_old, variant.local_obs_old_nr_cases) }}
Cancer Germline {{ render_obs(obs_count) }} {{ render_obs(0 if obs_count == 0 else variant.local_obs_cancer_germline_hom_old) }} {{ render_freq(variant.local_obs_cancer_germline_old_freq, variant.local_obs_cancer_germline_old, variant.local_obs_cancer_germline_old_nr_cases) }}
Cancer Somatic {{ render_obs(obs_count) }} {{ render_obs(0 if obs_count == 0 else variant.local_obs_cancer_somatic_hom_old) }} {{ render_freq(variant.local_obs_cancer_somatic_old_freq, variant.local_obs_cancer_somatic_old, variant.local_obs_cancer_somatic_old_nr_cases) }}
Cancer Somatic panel {{ render_obs(obs_count) }} N/A {{ render_freq(variant.local_obs_cancer_somatic_panel_old_freq, variant.local_obs_cancer_somatic_panel_old, None) }}
{% endmacro %} {% macro old_observations(variant, obs_date) %} {% if "SHOW_OBSERVED_VARIANT_ARCHIVE" in config and config["SHOW_OBSERVED_VARIANT_ARCHIVE"] == true %}
Local observations (archive {{ obs_date or variant.local_obs_old_date or "version"}})
{{ old_observations_table(variant) }}
{% endif %} {% endmacro %} {% macro severity_list(variant) %}
Severity
{% endmacro %} {% macro conservations(variant) %}
Conservation
{% endmacro %} {% macro mappability_list(variant) %} {% set superdups_fracmatches = [] %} {% for gene in variant.genes %} {% for transcript in gene.transcripts %} {% if transcript.superdups_fracmatch %} {% for superdup in transcript.superdups_fracmatch %} {% do superdups_fracmatches.append(superdup) %} {% endfor %} {% endif %} {% endfor %} {% endfor %} {% set superdups_fracmatches = superdups_fracmatches|sort %} {% if superdups_fracmatches %}
  • mapping to {{superdups_fracmatches|length}} segm. dups. (min matching:{{ superdups_fracmatches|first|float|round(3) }}, max matching:{{ superdups_fracmatches|last|float|round(3) }})
  • {% else %}
  • -

  • {% endif %} {% endmacro %} {% macro mappability(variant) %}
    Mappability (fracMatch)
    {% endmacro %}