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|
<<< 1:14464:A (n. 1)
# Variant
+--------+---------+
| KEY | VALUE |
+--------+---------+
| CHROM | 1 |
| POS | 14464 |
| ID | . |
| REF | A |
| ALT | T |
| QUAL | 2235.88 |
| FILTER | PASS |
+--------+---------+
# VEP/CSQ
+--------+------------------------------------+----------+---------+-----------------+-------------------+-----------------+------------------------+-------+-----------------------------+---------------+--------------------+------------+----------+--------+---------------+---------------+---------+-----------+--------+--------+--------+--------+--------+--------+--------+-------------+
| Allele | Consequence | IMPACT | SYMBOL | Gene | Feature_type | Feature | BIOTYPE | EXON | HGVSc | cDNA_position | Existing_variation | ALLELE_NUM | DISTANCE | STRAND | VARIANT_CLASS | SYMBOL_SOURCE | HGNC_ID | CANONICAL | AF | AFR_AF | AMR_AF | EAS_AF | EUR_AF | SAS_AF | MAX_AF | MAX_AF_POPS |
+--------+------------------------------------+----------+---------+-----------------+-------------------+-----------------+------------------------+-------+-----------------------------+---------------+--------------------+------------+----------+--------+---------------+---------------+---------+-----------+--------+--------+--------+--------+--------+--------+--------+-------------+
| T | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000423562 | unprocessed_pseudogene | 10/10 | ENST00000423562.1:n.1568T>A | 1568 | rs546169444 | 1 | | -1 | SNV | HGNC | 38034 | | 0.0958 | 0.0144 | 0.1138 | 0.005 | 0.1859 | 0.1943 | 0.1943 | SAS |
| T | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000438504 | unprocessed_pseudogene | 12/12 | ENST00000438504.2:n.1682T>A | 1682 | rs546169444 | 1 | | -1 | SNV | HGNC | 38034 | YES | 0.0958 | 0.0144 | 0.1138 | 0.005 | 0.1859 | 0.1943 | 0.1943 | SAS |
| T | downstream_gene_variant | MODIFIER | DDX11L1 | ENSG00000223972 | Transcript | ENST00000456328 | processed_transcript | | | | rs546169444 | 1 | 55 | 1 | SNV | HGNC | 37102 | YES | 0.0958 | 0.0144 | 0.1138 | 0.005 | 0.1859 | 0.1943 | 0.1943 | SAS |
| T | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000488147 | unprocessed_pseudogene | 11/11 | ENST00000488147.1:n.1291T>A | 1291 | rs546169444 | 1 | | -1 | SNV | HGNC | 38034 | | 0.0958 | 0.0144 | 0.1138 | 0.005 | 0.1859 | 0.1943 | 0.1943 | SAS |
| T | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000538476 | unprocessed_pseudogene | 13/13 | ENST00000538476.1:n.1530T>A | 1530 | rs546169444 | 1 | | -1 | SNV | HGNC | 38034 | | 0.0958 | 0.0144 | 0.1138 | 0.005 | 0.1859 | 0.1943 | 0.1943 | SAS |
| T | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000541675 | unprocessed_pseudogene | 9/9 | ENST00000541675.1:n.1315T>A | 1315 | rs546169444 | 1 | | -1 | SNV | HGNC | 38034 | | 0.0958 | 0.0144 | 0.1138 | 0.005 | 0.1859 | 0.1943 | 0.1943 | SAS |
| T | regulatory_region_variant | MODIFIER | | | RegulatoryFeature | ENSR00000000002 | open_chromatin_region | | | | rs546169444 | 1 | | | SNV | | | | 0.0958 | 0.0144 | 0.1138 | 0.005 | 0.1859 | 0.1943 | 0.1943 | SAS |
+--------+------------------------------------+----------+---------+-----------------+-------------------+-----------------+------------------------+-------+-----------------------------+---------------+--------------------+------------+----------+--------+---------------+---------------+---------+-----------+--------+--------+--------+--------+--------+--------+--------+-------------+
# BCSQ
+-------------+--------+------------------------+
| Consequence | gene | biotype |
+-------------+--------+------------------------+
| non_coding | WASH7P | unprocessed_pseudogene |
+-------------+--------+------------------------+
>>> 1:14464:A (n. 1)
<<< 1:14469:C (n. 2)
# Variant
+--------+-------+
| KEY | VALUE |
+--------+-------+
| CHROM | 1 |
| POS | 14469 |
| ID | . |
| REF | C |
| ALT | T |
| QUAL | 37.38 |
| FILTER | PASS |
+--------+-------+
# VEP/CSQ
+--------+------------------------------------+----------+---------+-----------------+-------------------+-----------------+------------------------+-------+-----------------------------+---------------+------------+----------+--------+---------------+---------------+---------+-----------+
| Allele | Consequence | IMPACT | SYMBOL | Gene | Feature_type | Feature | BIOTYPE | EXON | HGVSc | cDNA_position | ALLELE_NUM | DISTANCE | STRAND | VARIANT_CLASS | SYMBOL_SOURCE | HGNC_ID | CANONICAL |
+--------+------------------------------------+----------+---------+-----------------+-------------------+-----------------+------------------------+-------+-----------------------------+---------------+------------+----------+--------+---------------+---------------+---------+-----------+
| T | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000423562 | unprocessed_pseudogene | 10/10 | ENST00000423562.1:n.1563G>A | 1563 | 1 | | -1 | SNV | HGNC | 38034 | |
| T | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000438504 | unprocessed_pseudogene | 12/12 | ENST00000438504.2:n.1677G>A | 1677 | 1 | | -1 | SNV | HGNC | 38034 | YES |
| T | downstream_gene_variant | MODIFIER | DDX11L1 | ENSG00000223972 | Transcript | ENST00000456328 | processed_transcript | | | | 1 | 60 | 1 | SNV | HGNC | 37102 | YES |
| T | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000488147 | unprocessed_pseudogene | 11/11 | ENST00000488147.1:n.1286G>A | 1286 | 1 | | -1 | SNV | HGNC | 38034 | |
| T | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000538476 | unprocessed_pseudogene | 13/13 | ENST00000538476.1:n.1525G>A | 1525 | 1 | | -1 | SNV | HGNC | 38034 | |
| T | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000541675 | unprocessed_pseudogene | 9/9 | ENST00000541675.1:n.1310G>A | 1310 | 1 | | -1 | SNV | HGNC | 38034 | |
| T | regulatory_region_variant | MODIFIER | | | RegulatoryFeature | ENSR00000000002 | open_chromatin_region | | | | 1 | | | SNV | | | |
+--------+------------------------------------+----------+---------+-----------------+-------------------+-----------------+------------------------+-------+-----------------------------+---------------+------------+----------+--------+---------------+---------------+---------+-----------+
# BCSQ
+-------------+--------+------------------------+
| Consequence | gene | biotype |
+-------------+--------+------------------------+
| non_coding | WASH7P | unprocessed_pseudogene |
+-------------+--------+------------------------+
>>> 1:14469:C (n. 2)
<<< 1:14522:G (n. 3)
# Variant
+--------+--------+
| KEY | VALUE |
+--------+--------+
| CHROM | 1 |
| POS | 14522 |
| ID | . |
| REF | G |
| ALT | A |
| QUAL | 627.64 |
| FILTER | PASS |
+--------+--------+
# VEP/CSQ
+--------+----------------------------------------------+----------+---------+-----------------+--------------+-----------------+------------------------+-------+--------+--------------------------------+---------------+------------+----------+--------+---------------+---------------+---------+-----------+
| Allele | Consequence | IMPACT | SYMBOL | Gene | Feature_type | Feature | BIOTYPE | EXON | INTRON | HGVSc | cDNA_position | ALLELE_NUM | DISTANCE | STRAND | VARIANT_CLASS | SYMBOL_SOURCE | HGNC_ID | CANONICAL |
+--------+----------------------------------------------+----------+---------+-----------------+--------------+-----------------+------------------------+-------+--------+--------------------------------+---------------+------------+----------+--------+---------------+---------------+---------+-----------+
| A | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000423562 | unprocessed_pseudogene | 10/10 | | ENST00000423562.1:n.1510C>T | 1510 | 1 | | -1 | SNV | HGNC | 38034 | |
| A | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000438504 | unprocessed_pseudogene | 12/12 | | ENST00000438504.2:n.1624C>T | 1624 | 1 | | -1 | SNV | HGNC | 38034 | YES |
| A | downstream_gene_variant | MODIFIER | DDX11L1 | ENSG00000223972 | Transcript | ENST00000456328 | processed_transcript | | | | | 1 | 113 | 1 | SNV | HGNC | 37102 | YES |
| A | intron_variant&non_coding_transcript_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000488147 | unprocessed_pseudogene | | 10/10 | ENST00000488147.1:n.1254-21C>T | | 1 | | -1 | SNV | HGNC | 38034 | |
| A | intron_variant&non_coding_transcript_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000538476 | unprocessed_pseudogene | | 12/12 | ENST00000538476.1:n.1492-20C>T | | 1 | | -1 | SNV | HGNC | 38034 | |
| A | non_coding_transcript_exon_variant | MODIFIER | WASH7P | ENSG00000227232 | Transcript | ENST00000541675 | unprocessed_pseudogene | 9/9 | | ENST00000541675.1:n.1257C>T | 1257 | 1 | | -1 | SNV | HGNC | 38034 | |
+--------+----------------------------------------------+----------+---------+-----------------+--------------+-----------------+------------------------+-------+--------+--------------------------------+---------------+------------+----------+--------+---------------+---------------+---------+-----------+
# BCSQ
+-------------+--------+------------------------+
| Consequence | gene | biotype |
+-------------+--------+------------------------+
| non_coding | WASH7P | unprocessed_pseudogene |
+-------------+--------+------------------------+
>>> 1:14522:G (n. 3)
|
