##fileformat=VCFv4.0
##VEP=v76 cache=/data_ensembl/vep/grch37/release-76/homo_sapiens/76_GRCh37 db=homo_sapiens_core_76_37@ensembldb.ensembl.org
##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence type as predicted by VEP. Format: Allele|Gene|Feature|Feature_type|Consequence|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|DISTANCE|STRAND|SYMBOL|SYMBOL_SOURCE|HGNC_ID|BIOTYPE|SIFT|PolyPhen|DOMAINS|HGVSc|HGVSp|GMAF|AFR_MAF|AMR_MAF|ASN_MAF|EUR_MAF|AA_MAF|EA_MAF|CLIN_SIG|SOMATIC|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
14	22476137	.	AAGGT	A	.	.	MQ=0;CSQ=-|ENSG00000211798|ENST00000390446|Transcript|downstream_gene_variant||||||rs377381134&TMP_ESP_14_22476138_22476141|4226|1|TRAV18|HGNC|12114|TR_V_gene|||||||||||-:0.064722|-:0.091881||||||,-|ENSG00000258705|ENST00000553572|Transcript|upstream_gene_variant||||||rs377381134&TMP_ESP_14_22476138_22476141|4008|1|AE000660.4|Clone_based_vega_gene||processed_pseudogene|||||||||||-:0.064722|-:0.091881||||||,-|ENSG00000211799|ENST00000390447|Transcript|frameshift_variant&feature_truncation|185-188|68-71|23-24|||rs377381134&TMP_ESP_14_22476138_22476141||1|TRAV19|HGNC|12115|TR_V_gene|||Pfam_domain:PF07686&PROSITE_profiles:PS50835&Superfamily_domains:SSF48726|ENST00000390447.3:c.68_71delAGGT|ENSP00000452148.1:p.Val24LeufsTer15||||||-:0.064722|-:0.091881||||||
14	22476138	.	AGGTAACTCA	AATTTC	.	.	CSQ=ATTTC|ENSG00000211798|ENST00000390446|Transcript|downstream_gene_variant|||||||4227|1|TRAV18|HGNC|12114|TR_V_gene||||||||||||||||||,ATTTC|ENSG00000258705|ENST00000553572|Transcript|upstream_gene_variant|||||||4002|1|AE000660.4|Clone_based_vega_gene||processed_pseudogene||||||||||||||||||,ATTTC|ENSG00000211799|ENST00000390447|Transcript|frameshift_variant&feature_truncation|186-194|69-77|23-26|||||1|TRAV19|HGNC|12115|TR_V_gene|||Pfam_domain:PF07686&PROSITE_profiles:PS50835&Superfamily_domains:SSF48726|ENST00000390447.3:c.69_77delGGTAACTCAinsATTTC|ENSP00000452148.1:p.Val24PhefsTer15|||||||||||||
14	24727782	.	CTCGTCGAA	CAT	.	.	CSQ=AT|ENSG00000092295|ENST00000558074|Transcript|downstream_gene_variant|||||||3214|-1|TGM1|HGNC||protein_coding||||||||||||||||||,AT|ENSG00000092295|ENST00000560226|Transcript|downstream_gene_variant|||||||3643|-1|TGM1|HGNC||protein_coding||||||||||||||||||,AT|ENSG00000092295|ENST00000544573|Transcript|intron_variant&feature_truncation||||||||-1|TGM1|HGNC||protein_coding||||ENST00000544573.1:c.-28-196_-28-189delTTCGACGAinsAT||||||||||||||,AT|ENSG00000092295|ENST00000560443|Transcript|downstream_gene_variant|||||||3575|-1|TGM1|HGNC||protein_coding||||||||||||||||||,AT|ENSG00000092295|ENST00000559669|Transcript|upstream_gene_variant|||||||3521|-1|TGM1|HGNC||protein_coding||||||||||||||||||,AT|ENSG00000092295|ENST00000206765|Transcript|feature_truncation|1373-1380|1249-1256|417-419|FDE/M|TTCGACGAg/ATg|||-1|TGM1|HGNC|11777|protein_coding|||Pfam_domain:PF01841&SMART_domains:SM00460&Superfamily_domains:SSF54001|ENST00000206765.6:c.1249_1256delTTCGACGAinsAT|ENSP00000206765.6:p.Phe417_Glu419delinsMet|||||||||||||,AT|ENSG00000092295|ENST00000560478|Transcript|downstream_gene_variant|||||||3618|-1|TGM1|HGNC||protein_coding||||||||||||||||||,AT|ENSG00000092295|ENST00000561067|Transcript|downstream_gene_variant|||||||3741|-1|TGM1|HGNC||protein_coding||||||||||||||||||,AT|ENSG00000092295|ENST00000559136|Transcript|feature_truncation|592-599|322-329|108-110|FDE/M|TTCGACGAg/ATg|||-1|TGM1|HGNC||protein_coding|||Pfam_domain:PF01841&SMART_domains:SM00460&Superfamily_domains:SSF54001|ENST00000559136.1:c.322_329delTTCGACGAinsAT|ENSP00000453337.1:p.Phe108_Glu110delinsMet|||||||||||||
14	60451931	.	GTATACCACTTGGTAAGAATT	GGAAC	.	.	CSQ=GAAC|ENSG00000131951|ENST00000445360|Transcript|splice_donor_variant&coding_sequence_variant&intron_variant&feature_truncation|2405-?|2201-?|734-?|||||1|LRRC9|HGNC|19848|protein_coding||||ENST00000445360.1:c.2201_2211+9delTATACCACTTGGTAAGAATTinsGAAC||||||||||||||,GAAC|ENSG00000258553|ENST00000555432|Transcript|intron_variant&nc_transcript_variant&feature_truncation||||||||-1|RP11-16B13.1|Clone_based_vega_gene||antisense||||ENST00000555432.1:n.154-11720_154-11701delAATTCTTACCAAGTGGTATAinsGTTC||||||||||||||,GAAC|ENSG00000131951|ENST00000254271|Transcript|splice_donor_variant&coding_sequence_variant&intron_variant&NMD_transcript_variant&feature_truncation|2405-?|2201-?|734-?|||||1|LRRC9|HGNC||nonsense_mediated_decay||||ENST00000254271.4:c.2201_2211+9delTATACCACTTGGTAAGAATTinsGAAC||||||||||||||,GAAC|ENSG00000258553|ENST00000554123|Transcript|intron_variant&nc_transcript_variant&feature_truncation||||||||-1|RP11-16B13.1|Clone_based_vega_gene||antisense||||ENST00000554123.1:n.165-11720_165-11701delAATTCTTACCAAGTGGTATAinsGTTC||||||||||||||
14	77493853	.	CTGCTGCCGCCGCCGCCGCCGCT	CC	.	.	CSQ=C|ENSG00000119669|ENST00000238647|Transcript|feature_truncation|1160-1181|261-282|87-94|EAAAAAAA/E|gaAGCGGCGGCGGCGGCGGCAGCA/gaG|||-1|IRF2BPL|HGNC|14282|protein_coding|||Low_complexity_(Seg):Seg&Pfam_domain:PF11261&PROSITE_profiles:PS50310|ENST00000238647.3:c.261_282delAGCGGCGGCGGCGGCGGCAGCAinsG|ENSP00000238647.3:p.Ala88_Ala94del|||||||||||||,C||ENSR00000421283|RegulatoryFeature|regulatory_region_variant||||||||||||||||||||||||||||||
14	77493874	.	CT	CCGCCGCCGCC	.	.	EVS=0|2.0|3647;CSQ=CGCCGCCGCC|ENSG00000119669|ENST00000238647|Transcript|inframe_insertion|1160|261|87|E/EAAA|gaA/gaGGCGGCGGCG|rs71428775||-1|IRF2BPL|HGNC|14282|protein_coding|||Pfam_domain:PF11261&PROSITE_profiles:PS50310|ENST00000238647.3:c.261delAinsGGCGGCGGCG|ENSP00000238647.3:p.Glu87_Ala88insAlaAlaAla|C:0.4371|C:0.13|C:0.40|C:0.55|C:0.56||||||||,CGCCGCCGCC||ENSR00000421283|RegulatoryFeature|regulatory_region_variant||||||rs71428775||||||||||||C:0.4371|C:0.13|C:0.40|C:0.55|C:0.56||||||||
14	92537353	.	CC	CGCTGCTGCTGCTGCTGCTGCTG,CCCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	.	.	EVS=0|82.0|6503;CSQ=GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000445618.1:p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000450642.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000389376.2:p.Gln298_Gly299insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000450641.1:p.Gln199_Gly200insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000451385.1:p.Gln304_Gly305insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000451996.1:p.Gln254_Gly255insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000451001.1:p.Gln235_Gly236insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000339110.6:p.Gln250_Gly251insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000451417.1:p.Gln207_Gly208insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000376965.5:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000426697.1:p.Gln290_Gly291insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000437157.1:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000425322.1:p.Gln126_Gly127insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||
14	92537353	.	CC	CGCTGCTGCTGCTGCTGCTGCTGCTC,CGCTGCTGCTGCTGCTGCTG	.	.	EVS=0|82.0|6503;CSQ=GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/EQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsGAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsGAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||
14	92537353	.	CC	CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCCTGCTGCTGCTG	.	.	EVS=0|82.0|6503;CSQ=GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGG|ENSP00000445618.1:p.Gln311_Gln314dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGG|ENSP00000450642.1:p.Gln123_Gln126dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGG|ENSP00000389376.2:p.Gln295_Gln298dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGG|ENSP00000450641.1:p.Gln196_Gln199dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGG|ENSP00000451385.1:p.Gln301_Gln304dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGG|ENSP00000451996.1:p.Gln251_Gln254dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGG|ENSP00000451001.1:p.Gln232_Gln235dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGG|ENSP00000339110.6:p.Gln247_Gln250dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGG|ENSP00000451417.1:p.Gln204_Gln207dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGG|ENSP00000376965.5:p.Gln302_Gln305dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGG|ENSP00000426697.1:p.Gln287_Gln290dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGG|ENSP00000437157.1:p.Gln302_Gln305dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQG|Ggg/CAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGG|ENSP00000425322.1:p.Gln123_Gln126dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||
14	92537353	.	CC	CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCCTGCTGCTGCTGCTGCTGCTGCTGCTG,CGCTGCTGCTGCTGCTGCTC,CGCTGCTGCTGCTGCTGCTGCTG,CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC,CCCTGCTGCTGCTGCTGCTGCTGCTG,CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	.	.	EVS=0|82.0|6503;CSQ=GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000445618.1:p.Gln307_Gln314dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000445618.1:p.Gln306_Gln314dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000450642.1:p.Gln119_Gln126dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000450642.1:p.Gln118_Gln126dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000389376.2:p.Gln291_Gln298dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000389376.2:p.Gln290_Gln298dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000450641.1:p.Gln192_Gln199dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000450641.1:p.Gln191_Gln199dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000451385.1:p.Gln297_Gln304dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000451385.1:p.Gln296_Gln304dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000451996.1:p.Gln247_Gln254dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000451996.1:p.Gln246_Gln254dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000451001.1:p.Gln228_Gln235dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000451001.1:p.Gln227_Gln235dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000339110.6:p.Gln243_Gln250dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000339110.6:p.Gln242_Gln250dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000451417.1:p.Gln200_Gln207dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000451417.1:p.Gln199_Gln207dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000376965.5:p.Gln298_Gln305dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000376965.5:p.Gln297_Gln305dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000426697.1:p.Gln283_Gln290dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000426697.1:p.Gln282_Gln290dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000437157.1:p.Gln298_Gln305dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000437157.1:p.Gln297_Gln305dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/EQQQQQQQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000425322.1:p.Gln119_Gln126dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQQQG|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGGgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG|ENSP00000425322.1:p.Gln118_Gln126dup|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/EQQQQQR|Ggg/GAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsGAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,CCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGG||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTC|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsGAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||
14	92537353	.	CC	CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	.	.	EVS=0|82.0|6503;CSQ=GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||
14	92537353	.	CC	CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	.	.	EVS=0|82.0|6503;CSQ=GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||
14	92537353	.	CC	CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	.	.	EVS=0|82.0|6503;CSQ=GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||
14	92537353	.	CC	CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	.	.	EVS=0|82.0|6503;CSQ=GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||
14	92537353	.	CC	CGCTGCTGCTGCTGCTGCTGCTG	.	.	EVS=0|82.0|6503;CSQ=GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012|943|315|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487|379|127|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964|895|299|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620|598|200|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935|913|305|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785|763|255|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728|706|236|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM318869&rs12895357||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809|751|251|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684|622|208|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974|916|306|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919|871|291|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926|916|306|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650|379|127|G/QQQQQQQR|Ggg/CAGCAGCAGCAGCAGCAGCAGCgg|COSM318869&rs12895357||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379delGinsCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGlnGlnGlnGlnGlnGlnGlnArg|G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654|||||COSM318869&rs12895357||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||,GCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871|||||COSM318869&rs12895357||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516delGinsCAGCAGCAGCAGCAGCAGCAGC||G:0.2571|G:0.18|G:0.16|G:0.42|G:0.23|G:0.112574|G:0.188256||1&0||||
14	92537353	.	C	CGCTGCTGCTGCTGCTGCTGCT,CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,CGCTGCTGCTGCTGCTGCT	.	.	MQ=0;CSQ=GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011-1012|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011-1012|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011-1012|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012-1013|943-944|315|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012-1013|943-944|315|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012-1013|943-944|315|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829-830|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829-830|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829-830|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487-488|379-380|127|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487-488|379-380|127|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487-488|379-380|127|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300-301|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300-301|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300-301|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964-965|895-896|299|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964-965|895-896|299|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964-965|895-896|299|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620-621|598-599|200|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620-621|598-599|200|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620-621|598-599|200|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850-851|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850-851|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850-851|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935-936|913-914|305|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935-936|913-914|305|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935-936|913-914|305|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785-786|763-764|255|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785-786|763-764|255|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785-786|763-764|255|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735-736|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735-736|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735-736|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728-729|706-707|236|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728-729|706-707|236|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728-729|706-707|236|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915-916|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915-916|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915-916|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797-798|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797-798|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797-798|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868-869|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868-869|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868-869|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520-521|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520-521|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520-521|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588-589|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588-589|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588-589|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809-810|751-752|251|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809-810|751-752|251|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809-810|751-752|251|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993-994|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993-994|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993-994|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950-951|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950-951|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950-951|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841-842|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841-842|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841-842|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684-685|622-623|208|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684-685|622-623|208|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684-685|622-623|208|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785-786|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785-786|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785-786|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974-975|916-917|306|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974-975|916-917|306|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974-975|916-917|306|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919-920|871-872|291|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919-920|871-872|291|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919-920|871-872|291|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699-700|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699-700|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699-700|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453-454|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453-454|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453-454|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926-927|916-917|306|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926-927|916-917|306|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926-927|916-917|306|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992-993|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992-993|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992-993|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839-840|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839-840|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839-840|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697-698|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697-698|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697-698|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650-651|379-380|127|G/EQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650-651|379-380|127|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650-651|379-380|127|G/EQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654-655|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654-655|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654-655|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871-872|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871-872|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871-872|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGCAGC||||||||||||||
14	92537353	.	C	CGCTGCTGCTGCTGCTGCTGCTGCTGCT	.	.	CSQ=GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011-1012|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012-1013|943-944|315|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829-830|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487-488|379-380|127|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300-301|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964-965|895-896|299|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620-621|598-599|200|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850-851|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935-936|913-914|305|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785-786|763-764|255|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735-736|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728-729|706-707|236|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915-916|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797-798|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868-869|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520-521|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588-589|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809-810|751-752|251|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993-994|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950-951|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841-842|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684-685|622-623|208|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785-786|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974-975|916-917|306|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919-920|871-872|291|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699-700|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453-454|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926-927|916-917|306|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992-993|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839-840|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697-698|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650-651|379-380|127|G/EQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654-655|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871-872|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||
14	92537353	.	C	CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	.	.	CSQ=GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011-1012|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012-1013|943-944|315|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829-830|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487-488|379-380|127|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300-301|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964-965|895-896|299|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620-621|598-599|200|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850-851|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935-936|913-914|305|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785-786|763-764|255|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735-736|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728-729|706-707|236|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915-916|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797-798|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868-869|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520-521|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588-589|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809-810|751-752|251|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993-994|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950-951|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841-842|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684-685|622-623|208|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785-786|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974-975|916-917|306|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919-920|871-872|291|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699-700|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453-454|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926-927|916-917|306|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992-993|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839-840|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697-698|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650-651|379-380|127|G/EQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654-655|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871-872|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||
14	92537353	.	C	CGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	.	.	CSQ=GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011-1012|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012-1013|943-944|315|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829-830|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487-488|379-380|127|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300-301|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964-965|895-896|299|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620-621|598-599|200|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850-851|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935-936|913-914|305|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785-786|763-764|255|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735-736|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728-729|706-707|236|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915-916|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797-798|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868-869|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520-521|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588-589|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809-810|751-752|251|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993-994|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950-951|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841-842|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684-685|622-623|208|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785-786|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974-975|916-917|306|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919-920|871-872|291|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699-700|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453-454|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926-927|916-917|306|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992-993|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839-840|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697-698|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650-651|379-380|127|G/EQQQQQQQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654-655|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871-872|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||
14	92537353	.	C	CGCTGCTGCTGCTGCTGCTGCTGCT	.	.	MQ=0;CSQ=GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011-1012|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012-1013|943-944|315|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829-830|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487-488|379-380|127|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300-301|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964-965|895-896|299|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620-621|598-599|200|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850-851|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935-936|913-914|305|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785-786|763-764|255|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735-736|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728-729|706-707|236|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915-916|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797-798|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868-869|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520-521|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588-589|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809-810|751-752|251|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993-994|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950-951|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841-842|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684-685|622-623|208|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785-786|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974-975|916-917|306|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919-920|871-872|291|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699-700|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453-454|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926-927|916-917|306|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992-993|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839-840|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697-698|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650-651|379-380|127|G/EQQQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654-655|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871-872|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGCAGCAGC||||||||||||||
14	92537353	.	C	CGCTGCTGCTGCTGCTGCT	.	.	MQ=0;CSQ=GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1011-1012|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*644_*645insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|1012-1013|943-944|315|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000545170.1:c.943_944insAGCAGCAGCAGCAGCAGC|ENSP00000445618.1:p.Gly315delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|829-830|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*567_*568insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|487-488|379-380|127|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000557311.1:c.379_380insAGCAGCAGCAGCAGCAGC|ENSP00000450642.1:p.Gly127delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|300-301|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.300_301insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|964-965|895-896|299|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000429774.2:c.895_896insAGCAGCAGCAGCAGCAGC|ENSP00000389376.2:p.Gly299delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|620-621|598-599|200|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000556220.1:c.598_599insAGCAGCAGCAGCAGCAGC|ENSP00000450641.1:p.Gly200delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|850-851|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*375_*376insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|935-936|913-914|305|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554592.1:c.913_914insAGCAGCAGCAGCAGCAGC|ENSP00000451385.1:p.Gly305delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|785-786|763-764|255|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000553491.1:c.763_764insAGCAGCAGCAGCAGCAGC|ENSP00000451996.1:p.Gly255delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|735-736|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*111_*112insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|728-729|706-707|236|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000555381.1:c.706_707insAGCAGCAGCAGCAGCAGC|ENSP00000451001.1:p.Gly236delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|915-916|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*413_*414insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|797-798|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.797_798insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|868-869|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*590_*591insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|520-521|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.520_521insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12223_117-12222insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*423_*424insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|588-589|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*326_*327insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|685-686|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*375_*376insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|809-810|751-752|251|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000340660.6:c.751_752insAGCAGCAGCAGCAGCAGC|ENSP00000339110.6:p.Gly251delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|993-994|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*731_*732insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|950-951|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.950_951insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|841-842|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*579_*580insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|684-685|622-623|208|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000554672.1:c.622_623insAGCAGCAGCAGCAGCAGC|ENSP00000451417.1:p.Gly208delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|785-786|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.785_786insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|974-975|916-917|306|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000393287.5:c.916_917insAGCAGCAGCAGCAGCAGC|ENSP00000376965.5:p.Gly306delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*494_*495insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|919-920|871-872|291|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000503767.1:c.871_872insAGCAGCAGCAGCAGCAGC|ENSP00000426697.1:p.Gly291delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|699-700|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.699_700insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|849-850|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*590_*591insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|453-454|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.453_454insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|926-927|916-917|306|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000532032.1:c.916_917insAGCAGCAGCAGCAGCAGC|ENSP00000437157.1:p.Gly306delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|992-993|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.992_993insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|839-840|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.839_840insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|697-698|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*375_*376insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|650-651|379-380|127|G/EQQQQQR|ggg/gAGCAGCAGCAGCAGCAGCgg|||-1|ATXN3|HGNC||protein_coding|||PROSITE_profiles:PS50322|ENST00000502250.1:c.379_380insAGCAGCAGCAGCAGCAGC|ENSP00000425322.1:p.Gly127delinsGluGlnGlnGlnGlnGlnArg|||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|654-655|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.654_655insAGCAGCAGCAGCAGCAGC||||||||||||||,GCTGCTGCTGCTGCTGCT|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|871-872|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*516_*517insAGCAGCAGCAGCAGCAGC||||||||||||||
14	92537378	.	G	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	.	.	CSQ=CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|986-987|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*619_*620insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|987-988|918-919|306-307|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000545170.1:c.918_919insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000445618.1:p.Gln306_Gln307insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|804-805|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*542_*543insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|462-463|354-355|118-119|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000557311.1:c.354_355insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000450642.1:p.Gln118_Gln119insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|275-276|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.275_276insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|939-940|870-871|290-291|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000429774.2:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000389376.2:p.Gln290_Gln291insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|595-596|573-574|191-192|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000556220.1:c.573_574insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000450641.1:p.Gln191_Gln192insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|825-826|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*350_*351insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|910-911|888-889|296-297|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000554592.1:c.888_889insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000451385.1:p.Gln296_Gln297insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|760-761|738-739|246-247|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000553491.1:c.738_739insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000451996.1:p.Gln246_Gln247insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|710-711|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*86_*87insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|703-704|681-682|227-228|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000555381.1:c.681_682insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000451001.1:p.Gln227_Gln228insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|890-891|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*388_*389insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|772-773|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.772_773insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|843-844|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*565_*566insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|495-496|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.495_496insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12248_117-12247insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|660-661|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*398_*399insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|563-564|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*301_*302insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|660-661|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*350_*351insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|784-785|726-727|242-243|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000340660.6:c.726_727insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000339110.6:p.Gln242_Gln243insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|968-969|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*706_*707insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|925-926|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.925_926insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|816-817|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*554_*555insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|659-660|597-598|199-200|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000554672.1:c.597_598insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000451417.1:p.Gln199_Gln200insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|760-761|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.760_761insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|949-950|891-892|297-298|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000393287.5:c.891_892insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000376965.5:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|824-825|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*469_*470insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|894-895|846-847|282-283|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000503767.1:c.846_847insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000426697.1:p.Gln282_Gln283insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|674-675|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.674_675insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|824-825|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*565_*566insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|428-429|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.428_429insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|901-902|891-892|297-298|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000532032.1:c.891_892insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000437157.1:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|967-968|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.967_968insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|814-815|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.814_815insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|672-673|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*350_*351insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|625-626|354-355|118-119|-/QQQQQQQQQQ|-/CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000502250.1:c.354_355insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000425322.1:p.Gln118_Gln119insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln|||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|629-630|||||||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.629_630insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|846-847|||||||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*491_*492insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||||||
14	92537378	.	GT	GCTGCTGCTGCTGCTGC	.	.	EVS=0|45.0|6503;CSQ=CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|986|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*619delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|987|918|306|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000545170.1:c.918delAinsGCAGCAGCAGCAGCAG|ENSP00000445618.1:p.Gln306_Gln307insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|804|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*542delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|462|354|118|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000557311.1:c.354delAinsGCAGCAGCAGCAGCAG|ENSP00000450642.1:p.Gln118_Gln119insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|275|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.275delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|939|870|290|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000429774.2:c.870delAinsGCAGCAGCAGCAGCAG|ENSP00000389376.2:p.Gln290_Gln291insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|595|573|191|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000556220.1:c.573delAinsGCAGCAGCAGCAGCAG|ENSP00000450641.1:p.Gln191_Gln192insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|825|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*350delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|910|888|296|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000554592.1:c.888delAinsGCAGCAGCAGCAGCAG|ENSP00000451385.1:p.Gln296_Gln297insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|760|738|246|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000553491.1:c.738delAinsGCAGCAGCAGCAGCAG|ENSP00000451996.1:p.Gln246_Gln247insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|710|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*86delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|703|681|227|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000555381.1:c.681delAinsGCAGCAGCAGCAGCAG|ENSP00000451001.1:p.Gln227_Gln228insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|890|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*388delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|772|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.772delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|843|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*565delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|495|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.495delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM433493||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12248delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|660|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*398delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|563|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*301delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|660|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*350delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|784|726|242|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000340660.6:c.726delAinsGCAGCAGCAGCAGCAG|ENSP00000339110.6:p.Gln242_Gln243insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|968|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*706delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|925|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.925delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|816|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*554delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|659|597|199|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000554672.1:c.597delAinsGCAGCAGCAGCAGCAG|ENSP00000451417.1:p.Gln199_Gln200insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|760|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.760delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|949|891|297|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000393287.5:c.891delAinsGCAGCAGCAGCAGCAG|ENSP00000376965.5:p.Gln297_Gln298insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|824|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*469delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|894|846|282|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000503767.1:c.846delAinsGCAGCAGCAGCAGCAG|ENSP00000426697.1:p.Gln282_Gln283insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|674|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.674delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|824|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*565delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|428|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.428delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|901|891|297|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000532032.1:c.891delAinsGCAGCAGCAGCAGCAG|ENSP00000437157.1:p.Gln297_Gln298insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|967|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.967delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|814|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.814delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|672|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*350delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|625|354|118|Q/QQQQQQ|caA/caGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000502250.1:c.354delAinsGCAGCAGCAGCAGCAG|ENSP00000425322.1:p.Gln118_Gln119insGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|629|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.629delAinsGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|846|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*491delAinsGCAGCAGCAGCAGCAG||||||||||1||||
14	92537378	.	GT	GCTGCTGCTGCTGCTGCTGCTGC	.	.	EVS=0|45.0|6503;CSQ=CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|986|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*619delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|987|918|306|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000545170.1:c.918delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000445618.1:p.Gln306_Gln307insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|804|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*542delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|462|354|118|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000557311.1:c.354delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000450642.1:p.Gln118_Gln119insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|275|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.275delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|939|870|290|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000429774.2:c.870delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000389376.2:p.Gln290_Gln291insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|595|573|191|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000556220.1:c.573delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000450641.1:p.Gln191_Gln192insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|825|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*350delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|910|888|296|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000554592.1:c.888delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000451385.1:p.Gln296_Gln297insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|760|738|246|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000553491.1:c.738delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000451996.1:p.Gln246_Gln247insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|710|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*86delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|703|681|227|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000555381.1:c.681delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000451001.1:p.Gln227_Gln228insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|890|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*388delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|772|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.772delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|843|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*565delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|495|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.495delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM433493||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12248delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|660|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*398delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|563|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*301delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|660|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*350delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|784|726|242|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000340660.6:c.726delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000339110.6:p.Gln242_Gln243insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|968|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*706delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|925|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.925delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|816|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*554delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|659|597|199|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000554672.1:c.597delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000451417.1:p.Gln199_Gln200insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|760|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.760delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|949|891|297|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000393287.5:c.891delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000376965.5:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|824|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*469delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|894|846|282|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000503767.1:c.846delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000426697.1:p.Gln282_Gln283insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|674|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.674delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|824|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*565delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|428|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.428delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|901|891|297|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000532032.1:c.891delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000437157.1:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|967|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.967delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|814|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.814delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|672|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*350delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|625|354|118|Q/QQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000502250.1:c.354delAinsGCAGCAGCAGCAGCAGCAGCAG|ENSP00000425322.1:p.Gln118_Gln119insGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|629|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.629delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|846|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*491delAinsGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||
14	92537378	.	GT	GCTGCTGCTGCTGCTGCTGCTGCTGC	.	.	EVS=0|45.0|6503;CSQ=CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556374|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|986|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556374.1:c.*619delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000545170|Transcript|inframe_insertion|987|918|306|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000545170.1:c.918delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000445618.1:p.Gln306_Gln307insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556288|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|804|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556288.1:c.*542delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000557311|Transcript|inframe_insertion|462|354|118|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000557311.1:c.354delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000450642.1:p.Gln118_Gln119insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556644|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|275|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000556644.1:n.275delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000429774|Transcript|inframe_insertion|939|870|290|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000429774.2:c.870delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000389376.2:p.Gln290_Gln291insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556220|Transcript|inframe_insertion|595|573|191|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000556220.1:c.573delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000450641.1:p.Gln191_Gln192insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554994|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|825|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554994.1:c.*350delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554592|Transcript|inframe_insertion|910|888|296|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000554592.1:c.888delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000451385.1:p.Gln296_Gln297insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553491|Transcript|inframe_insertion|760|738|246|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000553491.1:c.738delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000451996.1:p.Gln246_Gln247insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000557030|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|710|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000557030.1:c.*86delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000555381|Transcript|inframe_insertion|703|681|227|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000555381.1:c.681delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000451001.1:p.Gln227_Gln228insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556898|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|890|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556898.1:c.*388delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553686|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|772|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000553686.1:n.772delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000359366|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|843|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000359366.5:c.*565delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554040|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|495|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000554040.1:n.495delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000526245|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||COSM433493||-1|ATXN3|HGNC|7106|processed_transcript||||ENST00000526245.1:n.117-12248delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000555816|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|660|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000555816.1:c.*398delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556082|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|563|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556082.1:c.*301delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553570|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|660|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553570.1:c.*350delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000340660|Transcript|inframe_insertion|784|726|242|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000340660.6:c.726delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000339110.6:p.Gln242_Gln243insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553488|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|968|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000553488.1:c.*706delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553309|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|925|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000553309.1:n.925delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556274|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|816|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556274.1:c.*554delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554672|Transcript|inframe_insertion|659|597|199|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000554672.1:c.597delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000451417.1:p.Gln199_Gln200insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000555958|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|760|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000555958.1:n.760delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000393287|Transcript|inframe_insertion|949|891|297|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000393287.5:c.891delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000376965.5:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556671|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|824|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556671.1:c.*469delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000503767|Transcript|inframe_insertion|894|846|282|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000503767.1:c.846delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000426697.1:p.Gln282_Gln283insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554214|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|674|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000554214.1:n.674delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556315|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|824|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556315.1:c.*565delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556339|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|428|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000556339.1:n.428delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000532032|Transcript|inframe_insertion|901|891|297|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000532032.1:c.891delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000437157.1:p.Gln297_Gln298insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554491|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|967|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000554491.1:n.967delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553498|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|814|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000553498.1:n.814delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000556958|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|672|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000556958.1:c.*350delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000502250|Transcript|inframe_insertion|625|354|118|Q/QQQQQQQQQ|caA/caGCAGCAGCAGCAGCAGCAGCAGCAG|COSM433493||-1|ATXN3|HGNC||protein_coding|||Coiled-coils_(Ncoils):ncoils&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50322|ENST00000502250.1:c.354delAinsGCAGCAGCAGCAGCAGCAGCAGCAG|ENSP00000425322.1:p.Gln118_Gln119insGlnGlnGlnGlnGlnGlnGlnGln|||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000553287|Transcript|non_coding_transcript_exon_variant&nc_transcript_variant&feature_elongation|629|||||COSM433493||-1|ATXN3|HGNC||processed_transcript||||ENST00000553287.1:n.629delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||,CTGCTGCTGCTGCTGCTGCTGCTGC|ENSG00000066427|ENST00000554350|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|846|||||COSM433493||-1|ATXN3|HGNC||nonsense_mediated_decay||||ENST00000554350.1:c.*491delAinsGCAGCAGCAGCAGCAGCAGCAGCAG||||||||||1||||
14	93532677	.	GTGTGT	G	.	.	MQ=0;CSQ=-|ENSG00000258730|ENST00000553639|Transcript|upstream_gene_variant|||||||1115|1|ITPK1-AS1|HGNC|20132|antisense||||||||||||||||||,-|ENSG00000100605|ENST00000555553|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000555553.1:c.120+10258_120+10262delACACA||||||||||||||,-|ENSG00000100605|ENST00000267615|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC|6177|protein_coding||||ENST00000267615.6:c.120+10258_120+10262delACACA||||||||||||||,-|ENSG00000100605|ENST00000557309|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000557309.1:c.120+10258_120+10262delACACA||||||||||||||,-|ENSG00000100605|ENST00000556603|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000556603.2:c.120+10258_120+10262delACACA||||||||||||||,-|ENSG00000100605|ENST00000556185|Transcript|frameshift_variant&feature_truncation|22-26|22-26|8-9|||||-1|ITPK1|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50316|ENST00000556185.1:c.22_26delACACA|ENSP00000451323.1:p.Thr8HisfsTer28|||||||||||||,-|ENSG00000100605|ENST00000553452|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000553452.1:c.120+10258_120+10262delACACA||||||||||||||,-|ENSG00000100605|ENST00000554999|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000554999.1:c.120+10258_120+10262delACACA||||||||||||||,-|ENSG00000100605|ENST00000354313|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000354313.3:c.120+10258_120+10262delACACA||||||||||||||,-|ENSG00000100605|ENST00000555495|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000555495.1:c.-238+48732_-238+48736delACACA||||||||||||||,-||ENSR00000241622|RegulatoryFeature|regulatory_region_variant||||||||||||||||||||||||||||||
14	93532677	.	GTGTGTGTGTA	GGGGG	.	.	CSQ=GGGG|ENSG00000258730|ENST00000553639|Transcript|upstream_gene_variant|||||||1110|1|ITPK1-AS1|HGNC|20132|antisense||||||||||||||||||,GGGG|ENSG00000100605|ENST00000555553|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000555553.1:c.120+10253_120+10262delTACACACACAinsCCCC||||||||||||||,GGGG|ENSG00000100605|ENST00000267615|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC|6177|protein_coding||||ENST00000267615.6:c.120+10253_120+10262delTACACACACAinsCCCC||||||||||||||,GGGG|ENSG00000100605|ENST00000557309|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000557309.1:c.120+10253_120+10262delTACACACACAinsCCCC||||||||||||||,GGGG|ENSG00000100605|ENST00000556603|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000556603.2:c.120+10253_120+10262delTACACACACAinsCCCC||||||||||||||,GGGG|ENSG00000100605|ENST00000556185|Transcript|feature_truncation|17-26|17-26|6-9|LHTH/PP|cTACACACACAc/cCCCCc|||-1|ITPK1|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50316|ENST00000556185.1:c.17_26delTACACACACAinsCCCC|ENSP00000451323.1:p.Leu6_His9delinsProPro|||||||||||||,GGGG|ENSG00000100605|ENST00000553452|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000553452.1:c.120+10253_120+10262delTACACACACAinsCCCC||||||||||||||,GGGG|ENSG00000100605|ENST00000554999|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000554999.1:c.120+10253_120+10262delTACACACACAinsCCCC||||||||||||||,GGGG|ENSG00000100605|ENST00000354313|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000354313.3:c.120+10253_120+10262delTACACACACAinsCCCC||||||||||||||,GGGG|ENSG00000100605|ENST00000555495|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000555495.1:c.-238+48727_-238+48736delTACACACACAinsCCCC||||||||||||||,GGGG||ENSR00000241622|RegulatoryFeature|regulatory_region_variant||||||||||||||||||||||||||||||
14	93532677	.	GTGTGTGTGTAGG	GGGGGGGC	.	.	CSQ=GGGGGGC|ENSG00000258730|ENST00000553639|Transcript|upstream_gene_variant|||||||1108|1|ITPK1-AS1|HGNC|20132|antisense||||||||||||||||||,GGGGGGC|ENSG00000100605|ENST00000555553|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000555553.1:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC||||||||||||||,GGGGGGC|ENSG00000100605|ENST00000267615|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC|6177|protein_coding||||ENST00000267615.6:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC||||||||||||||,GGGGGGC|ENSG00000100605|ENST00000557309|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000557309.1:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC||||||||||||||,GGGGGGC|ENSG00000100605|ENST00000556603|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000556603.2:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC||||||||||||||,GGGGGGC|ENSG00000100605|ENST00000556185|Transcript|frameshift_variant&feature_truncation|15-26|15-26|5-9|||||-1|ITPK1|HGNC||protein_coding|||Low_complexity_(Seg):Seg&PROSITE_profiles:PS50316|ENST00000556185.1:c.15_26delCCTACACACACAinsGCCCCCC|ENSP00000451323.1:p.Leu6ProfsTer30|||||||||||||,GGGGGGC|ENSG00000100605|ENST00000553452|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000553452.1:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC||||||||||||||,GGGGGGC|ENSG00000100605|ENST00000554999|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000554999.1:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC||||||||||||||,GGGGGGC|ENSG00000100605|ENST00000354313|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000354313.3:c.120+10251_120+10262delCCTACACACACAinsGCCCCCC||||||||||||||,GGGGGGC|ENSG00000100605|ENST00000555495|Transcript|intron_variant&feature_truncation||||||||-1|ITPK1|HGNC||protein_coding||||ENST00000555495.1:c.-238+48725_-238+48736delCCTACACACACAinsGCCCCCC||||||||||||||,GGGGGGC||ENSR00000241622|RegulatoryFeature|regulatory_region_variant||||||||||||||||||||||||||||||
14	95085546	.	CCCTTTGA	C,CCCCCCAAGATACTCATCATTTGA	.	.	MQ=0;CSQ=CCCCCAAGATACTCATCATTTGA|ENSG00000196136|ENST00000556388|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||processed_transcript||||ENST00000556388.1:n.58-3131_58-3125delCCTTTGAinsCCCCCAAGATACTCATCATTTGA|||||||-:0.000235|-:0.000121||||||,-|ENSG00000196136|ENST00000556388|Transcript|intron_variant&nc_transcript_variant&feature_truncation||||||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||processed_transcript||||ENST00000556388.1:n.58-3131_58-3125delCCTTTGA|||||||-:0.000235|-:0.000121||||||,CCCCCAAGATACTCATCATTTGA|ENSG00000196136|ENST00000393078|Transcript|frameshift_variant&feature_elongation|738-744|659-665|220-222|||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||protein_coding|||Pfam_domain:PF00079&SMART_domains:SM00093&Superfamily_domains:SSF56574|ENST00000393078.3:c.659_665delCCTTTGAinsCCCCCAAGATACTCATCATTTGA|ENSP00000376793.3:p.Phe221ProfsTer7||||||-:0.000235|-:0.000121||||||,-|ENSG00000196136|ENST00000393078|Transcript|frameshift_variant&feature_truncation|738-744|659-665|220-222|||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||protein_coding|||Pfam_domain:PF00079&SMART_domains:SM00093&Superfamily_domains:SSF56574|ENST00000393078.3:c.659_665delCCTTTGA|ENSP00000376793.3:p.Phe221ProfsTer11||||||-:0.000235|-:0.000121||||||,CCCCCAAGATACTCATCATTTGA|ENSG00000196136|ENST00000482740|Transcript|frameshift_variant&feature_elongation|1569-1575|5-11|2-4|||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||protein_coding|||Pfam_domain:PF00079&SMART_domains:SM00093&Superfamily_domains:SSF56574|ENST00000482740.1:c.5_11delCCTTTGAinsCCCCCAAGATACTCATCATTTGA|ENSP00000451119.1:p.Phe3ProfsTer7||||||-:0.000235|-:0.000121||||||,-|ENSG00000196136|ENST00000482740|Transcript|frameshift_variant&feature_truncation|1569-1575|5-11|2-4|||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||protein_coding|||Pfam_domain:PF00079&SMART_domains:SM00093&Superfamily_domains:SSF56574|ENST00000482740.1:c.5_11delCCTTTGA|ENSP00000451119.1:p.Phe3ProfsTer11||||||-:0.000235|-:0.000121||||||,CCCCCAAGATACTCATCATTTGA|ENSG00000273259|ENST00000553947|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1622-1628|||||TMP_ESP_14_95085547_95085553||1|RP11-986E7.7|Clone_based_vega_gene||nonsense_mediated_decay||||ENST00000553947.1:c.*1485_*1491delCCTTTGAinsCCCCCAAGATACTCATCATTTGA|||||||-:0.000235|-:0.000121||||||,-|ENSG00000273259|ENST00000553947|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_truncation|1622-1628|||||TMP_ESP_14_95085547_95085553||1|RP11-986E7.7|Clone_based_vega_gene||nonsense_mediated_decay||||ENST00000553947.1:c.*1485_*1491delCCTTTGA|||||||-:0.000235|-:0.000121||||||,CCCCCAAGATACTCATCATTTGA|ENSG00000196136|ENST00000467132|Transcript|frameshift_variant&feature_elongation|1807-1813|659-665|220-222|||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||protein_coding|||Pfam_domain:PF00079&SMART_domains:SM00093&Superfamily_domains:SSF56574|ENST00000467132.1:c.659_665delCCTTTGAinsCCCCCAAGATACTCATCATTTGA|ENSP00000450540.1:p.Phe221ProfsTer7||||||-:0.000235|-:0.000121||||||,-|ENSG00000196136|ENST00000467132|Transcript|frameshift_variant&feature_truncation|1807-1813|659-665|220-222|||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||protein_coding|||Pfam_domain:PF00079&SMART_domains:SM00093&Superfamily_domains:SSF56574|ENST00000467132.1:c.659_665delCCTTTGA|ENSP00000450540.1:p.Phe221ProfsTer11||||||-:0.000235|-:0.000121||||||,CCCCCAAGATACTCATCATTTGA|ENSG00000196136|ENST00000393080|Transcript|frameshift_variant&feature_elongation|727-733|659-665|220-222|||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||protein_coding|||Pfam_domain:PF00079&SMART_domains:SM00093&Superfamily_domains:SSF56574|ENST00000393080.4:c.659_665delCCTTTGAinsCCCCCAAGATACTCATCATTTGA|ENSP00000376795.4:p.Phe221ProfsTer7||||||-:0.000235|-:0.000121||||||,-|ENSG00000196136|ENST00000393080|Transcript|frameshift_variant&feature_truncation|727-733|659-665|220-222|||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||protein_coding|||Pfam_domain:PF00079&SMART_domains:SM00093&Superfamily_domains:SSF56574|ENST00000393080.4:c.659_665delCCTTTGA|ENSP00000376795.4:p.Phe221ProfsTer11||||||-:0.000235|-:0.000121||||||,CCCCCAAGATACTCATCATTTGA|ENSG00000196136|ENST00000555820|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|723-729|||||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||nonsense_mediated_decay||||ENST00000555820.1:c.*582_*588delCCTTTGAinsCCCCCAAGATACTCATCATTTGA|||||||-:0.000235|-:0.000121||||||,-|ENSG00000196136|ENST00000555820|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_truncation|723-729|||||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||nonsense_mediated_decay||||ENST00000555820.1:c.*582_*588delCCTTTGA|||||||-:0.000235|-:0.000121||||||,CCCCCAAGATACTCATCATTTGA|ENSG00000196136|ENST00000556968|Transcript|intron_variant&NMD_transcript_variant&feature_elongation||||||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||nonsense_mediated_decay||||ENST00000556968.1:c.644-3131_644-3125delCCTTTGAinsCCCCCAAGATACTCATCATTTGA|||||||-:0.000235|-:0.000121||||||,-|ENSG00000196136|ENST00000556968|Transcript|intron_variant&NMD_transcript_variant&feature_truncation||||||TMP_ESP_14_95085547_95085553||1|SERPINA3|HGNC||nonsense_mediated_decay||||ENST00000556968.1:c.644-3131_644-3125delCCTTTGA|||||||-:0.000235|-:0.000121||||||
14	95085548	.	CTT	CCCCAAGATACTCATCAGA	.	.	CSQ=CCCAAGATACTCATCAGA|ENSG00000196136|ENST00000556388|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||1|SERPINA3|HGNC||processed_transcript||||ENST00000556388.1:n.58-3129_58-3128delTTinsCCCAAGATACTCATCAGA||||||||||||||,CCCAAGATACTCATCAGA|ENSG00000196136|ENST00000393078|Transcript|frameshift_variant&feature_elongation|740-741|661-662|221|||||1|SERPINA3|HGNC||protein_coding|||Pfam_domain:PF00079&SMART_domains:SM00093&Superfamily_domains:SSF56574|ENST00000393078.3:c.661_662delTTinsCCCAAGATACTCATCAGA|ENSP00000376793.3:p.Phe221ProfsTer7|||||||||||||,CCCAAGATACTCATCAGA|ENSG00000196136|ENST00000482740|Transcript|frameshift_variant&feature_elongation|1571-1572|7-8|3|||||1|SERPINA3|HGNC||protein_coding|||Pfam_domain:PF00079&SMART_domains:SM00093&Superfamily_domains:SSF56574|ENST00000482740.1:c.7_8delTTinsCCCAAGATACTCATCAGA|ENSP00000451119.1:p.Phe3ProfsTer7|||||||||||||,CCCAAGATACTCATCAGA|ENSG00000273259|ENST00000553947|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|1624-1625|||||||1|RP11-986E7.7|Clone_based_vega_gene||nonsense_mediated_decay||||ENST00000553947.1:c.*1487_*1488delTTinsCCCAAGATACTCATCAGA||||||||||||||,CCCAAGATACTCATCAGA|ENSG00000196136|ENST00000467132|Transcript|frameshift_variant&feature_elongation|1809-1810|661-662|221|||||1|SERPINA3|HGNC||protein_coding|||Pfam_domain:PF00079&SMART_domains:SM00093&Superfamily_domains:SSF56574|ENST00000467132.1:c.661_662delTTinsCCCAAGATACTCATCAGA|ENSP00000450540.1:p.Phe221ProfsTer7|||||||||||||,CCCAAGATACTCATCAGA|ENSG00000196136|ENST00000393080|Transcript|frameshift_variant&feature_elongation|729-730|661-662|221|||||1|SERPINA3|HGNC||protein_coding|||Pfam_domain:PF00079&SMART_domains:SM00093&Superfamily_domains:SSF56574|ENST00000393080.4:c.661_662delTTinsCCCAAGATACTCATCAGA|ENSP00000376795.4:p.Phe221ProfsTer7|||||||||||||,CCCAAGATACTCATCAGA|ENSG00000196136|ENST00000555820|Transcript|3_prime_UTR_variant&NMD_transcript_variant&feature_elongation|725-726|||||||1|SERPINA3|HGNC||nonsense_mediated_decay||||ENST00000555820.1:c.*584_*585delTTinsCCCAAGATACTCATCAGA||||||||||||||,CCCAAGATACTCATCAGA|ENSG00000196136|ENST00000556968|Transcript|intron_variant&NMD_transcript_variant&feature_elongation||||||||1|SERPINA3|HGNC||nonsense_mediated_decay||||ENST00000556968.1:c.644-3129_644-3128delTTinsCCCAAGATACTCATCAGA||||||||||||||
14	106359403	.	ACCATAGCTGTATC	ATCGTAGCCACTATATT	.	.	CSQ=TCGTAGCCACTATATT|ENSG00000211915|ENST00000390575|Transcript|inframe_insertion|4-16|4-16|2-6|DTAMV/NIVATI|GATACAGCTATGGtt/AATATAGTGGCTACGAtt|||-1|IGHD5-18|HGNC|5509|IG_D_gene||||ENST00000390575.1:c.4_16delGATACAGCTATGGinsAATATAGTGGCTACGA|ENSP00000417555.1:p.Asp2_Val6delinsAsnIleValAlaThrIle|||||||||||||,TCGTAGCCACTATATT|ENSG00000211914|ENST00000390574|Transcript|upstream_gene_variant|||||||1827|-1|IGHD6-19|HGNC|5515|IG_D_gene||||||||||||||||||,TCGTAGCCACTATATT|ENSG00000211918|ENST00000390578|Transcript|downstream_gene_variant|||||||4399|-1|IGHD2-15|HGNC|5489|IG_D_gene||||||||||||||||||,TCGTAGCCACTATATT|ENSG00000244620|ENST00000418566|Transcript|upstream_gene_variant|||||||1088|1|AL122127.25|Clone_based_vega_gene||lincRNA||||||||||||||||||,TCGTAGCCACTATATT|ENSG00000211912|ENST00000390572|Transcript|upstream_gene_variant|||||||4968|-1|IGHD2-21|HGNC|5491|IG_D_gene||||||||||||||||||,TCGTAGCCACTATATT|ENSG00000237020|ENST00000450276|Transcript|upstream_gene_variant|||||||2339|-1|IGHD1-20|HGNC|5484|IG_D_gene||||||||||||||||||,TCGTAGCCACTATATT|ENSG00000227800|ENST00000431870|Transcript|downstream_gene_variant|||||||950|-1|IGHD4-17|HGNC|5503|IG_D_gene||||||||||||||||||,TCGTAGCCACTATATT|ENSG00000244620|ENST00000414005|Transcript|intron_variant&nc_transcript_variant&feature_elongation||||||||1|AL122127.25|Clone_based_vega_gene||lincRNA||||ENST00000414005.1:n.115-2437_115-2425delCCATAGCTGTATCinsTCGTAGCCACTATATT||||||||||||||,TCGTAGCCACTATATT|ENSG00000211917|ENST00000390577|Transcript|downstream_gene_variant|||||||2076|-1|IGHD3-16|HGNC|5496|IG_D_gene||||||||||||||||||
14	107095323	.	AACCACC	A	.	.	MQ=0;CSQ=-|ENSG00000253132|ENST00000520057|Transcript|downstream_gene_variant|||||||3816|-1|IGHV3-62|HGNC|5615|IG_V_pseudogene||||||||||||||||||,-|ENSG00000211970|ENST00000390630|Transcript|inframe_deletion|252-257|151-156|51-52|GG/-|GGTGGT/-|||-1|IGHV4-61|HGNC|5655|IG_V_gene|||Pfam_domain:PF07686&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50835&SMART_domains:SM00406&Superfamily_domains:SSF48726|ENST00000390630.2:c.151_156delGGTGGT|ENSP00000375039.2:p.Gly51_Gly52del|||||||||||||,-|ENSG00000199480|ENST00000362610|Transcript|downstream_gene_variant|||||||2533|1|RNA5SP357|HGNC|43257|rRNA||||||||||||||||||,-|ENSG00000254329|ENST00000519079|Transcript|upstream_gene_variant|||||||1346|-1|IGHVII-60-1|HGNC|5686|IG_V_pseudogene||||||||||||||||||
14	107095325	.	CCACCACTG	CTA	.	.	CSQ=TA|ENSG00000253132|ENST00000520057|Transcript|downstream_gene_variant|||||||3812|-1|IGHV3-62|HGNC|5615|IG_V_pseudogene||||||||||||||||||,TA|ENSG00000211970|ENST00000390630|Transcript|feature_truncation|248-255|147-154|49-52|SSGG/SS|agCAGTGGTGgt/agTAgt|||-1|IGHV4-61|HGNC|5655|IG_V_gene|||Pfam_domain:PF07686&Low_complexity_(Seg):Seg&PROSITE_profiles:PS50835&SMART_domains:SM00406&Superfamily_domains:SSF48726|ENST00000390630.2:c.147_154delCAGTGGTGinsTA|ENSP00000375039.2:p.Gly51_Gly52del|||||||||||||,TA|ENSG00000199480|ENST00000362610|Transcript|downstream_gene_variant|||||||2535|1|RNA5SP357|HGNC|43257|rRNA||||||||||||||||||,TA|ENSG00000254329|ENST00000519079|Transcript|upstream_gene_variant|||||||1348|-1|IGHVII-60-1|HGNC|5686|IG_V_pseudogene||||||||||||||||||
