## ENSEMBL VARIANT EFFECT PREDICTOR format (UCSC Variant Annotation Integrator) ## Connected to UCSC database hg19 ## Variants: some more variants (input/annoGrator/moreVariants.pgSnp.tab) ## Transcripts: UCSC Genes of course (hg19.knownGene) ## dbSNP: now snp137. (hg19.snp137) ## Keys for Extra column items: ## SIFT: SIFT score from dbNSFP 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 chr19_45405966_C/A chr19:45405966 A O96008-2 uc002ozz.3 Transcript 3_prime_UTR_variant 2449 - - - - - EXON=9/9 chr19_45405966_C/A chr19:45405966 A O96008 uc002ozx.4 Transcript intron_variant - - - - - - INTRON=9/9 chr19_45405966_C/A chr19:45405966 A O96008 uc002ozy.4 Transcript intron_variant - - - - - - INTRON=9/9 chr19_45405966_C/A chr19:45405966 A O96008 uc002paa.4 Transcript intron_variant - - - - - - INTRON=8/8 chr19_45405966_C/A chr19:45405966 A P02649 uc002pab.3 Transcript upstream_gene_variant - - - - - - DISTANCE=3073 chr19_45406350_C/T chr19:45406350 C O96008-2 uc002ozz.3 Transcript 3_prime_UTR_variant 2833 - - - - - EXON=9/9 chr19_45406350_C/T chr19:45406350 C O96008 uc002ozx.4 Transcript missense_variant 1111 1010 337 L/P cTg/cCg - SIFT=D(0.010000);EXON=10/10 chr19_45406350_C/T chr19:45406350 C O96008 uc002ozy.4 Transcript missense_variant 1114 1010 337 L/P cTg/cCg - SIFT=D(0.010000);EXON=10/10 chr19_45406350_C/T chr19:45406350 C O96008 uc002paa.4 Transcript missense_variant 1206 1010 337 L/P cTg/cCg - SIFT=D(0.010000);EXON=9/9 chr19_45406350_C/T chr19:45406350 C P02649 uc002pab.3 Transcript upstream_gene_variant - - - - - - DISTANCE=2689 chr19_45417440_A/G chr19:45417440 G P02649 uc002pab.3 Transcript downstream_gene_variant - - - - - rs111575056 DISTANCE=4790 chr19_45417440_A/G chr19:45417440 G P02654 uc002pac.1 Transcript upstream_gene_variant - - - - - rs111575056 DISTANCE=137 chr19_45417440_A/G chr19:45417440 G P02654 uc002pad.1 Transcript upstream_gene_variant - - - - - rs111575056 DISTANCE=137 chr19_45417440_A/G chr19:45417440 G P02654 uc002pae.1 Transcript upstream_gene_variant - - - - - rs111575056 DISTANCE=481 chr19_45417440_A/G chr19:45417440 G - uc002paf.1 Transcript upstream_gene_variant - - - - - rs111575056 DISTANCE=1994 chr19_45419476_G/A chr19:45419476 A P02654 uc002pac.1 Transcript missense_variant 340 88 30 V/I Gtc/Atc rs72654455 SIFT=T(0.840000);EXON=4/5 chr19_45419476_G/A chr19:45419476 A P02654 uc002pad.1 Transcript missense_variant 278 88 30 V/I Gtc/Atc rs72654455 SIFT=T(0.840000);EXON=3/4 chr19_45419476_G/A chr19:45419476 A P02654 uc002pae.1 Transcript missense_variant 178 88 30 V/I Gtc/Atc rs72654455 SIFT=T(0.840000);EXON=3/4 chr19_45419476_G/A chr19:45419476 A - uc002paf.1 Transcript non_coding_transcript_exon_variant 43 - - - - rs72654455 EXON=1/2