## ENSEMBL VARIANT EFFECT PREDICTOR format (UCSC Variant Annotation Integrator) ## Connected to UCSC database hg19 ## Variants: vepSamplePgSnp (input/annoGrator/vepSample.pgSnp.tab) ## Transcripts: UCSC Genes ... (hg19.ensGene) ## dbSNP: just dbSNP 135 (hg19.snp135) Uploaded Variation Location Allele Gene Feature Feature type Consequence Position in cDNA Position in CDS Position in protein Amino acid change Codon change Co-located Variation Extra chr1_881907_-/C chr1:881906-881907 C ENSG00000187634 ENST00000342066 Transcript downstream_gene_variant - - - - - rs34516061 DISTANCE=1952 chr1_881907_-/C chr1:881906-881907 C ENSG00000187634 ENST00000341065 Transcript downstream_gene_variant - - - - - rs34516061 DISTANCE=1952 chr1_881907_-/C chr1:881906-881907 C ENSG00000187634 ENST00000455979 Transcript downstream_gene_variant - - - - - rs34516061 DISTANCE=2268 chr1_881907_-/C chr1:881906-881907 C ENSG00000187634 ENST00000478729 Transcript downstream_gene_variant - - - - - rs34516061 DISTANCE=4354 chr1_881907_-/C chr1:881906-881907 C ENSG00000187634 ENST00000474461 Transcript downstream_gene_variant - - - - - rs34516061 DISTANCE=3533 chr1_881907_-/C chr1:881906-881907 C ENSG00000187634 ENST00000466827 Transcript downstream_gene_variant - - - - - rs34516061 DISTANCE=3725 chr1_881907_-/C chr1:881906-881907 C ENSG00000187634 ENST00000464948 Transcript downstream_gene_variant - - - - - rs34516061 DISTANCE=3635 chr1_881907_-/C chr1:881906-881907 C ENSG00000188976 ENST00000327044 Transcript frameshift_variant 1728-1729 1678-1679 560 ECKVA...SEDD*(191 aa)/GVQGG...LRRL*(38 aa) gagtgcaaggtg...gaggacgactga(573 nt)/gGagtgcaaggt...cggcgtctctga(114 nt) rs34516061 EXON=15/19 chr1_881907_-/C chr1:881906-881907 C ENSG00000188976 ENST00000483767 Transcript non_coding_transcript_exon_variant 534-535 - - - - rs34516061 EXON=1/5 chr1_881907_-/C chr1:881906-881907 C ENSG00000188976 ENST00000477976 Transcript non_coding_transcript_exon_variant 3125-3126 - - - - rs34516061 EXON=13/17 chr1_881907_-/C chr1:881906-881907 C ENSG00000188976 ENST00000496938 Transcript upstream_gene_variant - - - - - rs34516061 DISTANCE=965 chr5_140532_T/C chr5:140532 C ENSG00000249430 ENST00000512035 Transcript downstream_gene_variant - - - - - rs12516846 DISTANCE=554 chr5_140532_T/C chr5:140532 C ENSG00000153404 ENST00000283426 Transcript missense_variant 160 110 37 V/A gTa/gCa rs12516846 EXON=1/18 chr5_140532_T/C chr5:140532 C ENSG00000153404 ENST00000502646 Transcript upstream_gene_variant - - - - - rs12516846 DISTANCE=149 chr5_140532_T/C chr5:140532 C ENSG00000199540 ENST00000362670 Transcript downstream_gene_variant - - - - - rs12516846 DISTANCE=3670