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Table S4, related to Table 1.
KIF1B mutation reports in neuroblastoma tumors K14 and K10
K14 and K10 mutation reports is based on custom target sequencing of human
chromosome 1 from 10,270,764 to 10,441,661 using HiSeq2000 PE100 with minimum 80x
coverage. Highlighted row indicates a homozygous SNP (RefSNP rs77172218)
corresponding to chromosome 1 position 10,428,570 and heterozygous SNP RefSNP
rs41274458 (K14) corresponds to chromosome 1 position 10,363,664. RefSNP rs77172218
corresponds to a missense mutation from G to A at gene position 4912, resulting in an
amino acid mutation at position 1554 from valine (V) to methionine (M). RefSNP
rs41274458 (K10) corresponds to a missense mutation from G to T at gene position 2673,
resulting in an amino acid mutation at position 807 from methionine (M) to isoleucine (I).
RefSNP rs41274458 occurs within KIF1Bβ intron.
MUTATION REPORT K10:
#var_index,chrom,left,right,ref_seq,var_type,zygosity,var_seq1,var_seq2,var_score,not_ref_score,coverage,read_count1,read_count2,
conservation,gene_name,transcript_name,where_in_transcript,change_type1,ref_peptide1,var_peptide1,change_type2,ref_peptide2,
var_peptide2,dbsnp,dbsnp_build
519,chr1,10363664,10363665,g,SNP,Het,t,g,35.00000000,35.00000000,235,113,120,,KIF1B,NM_015074,Intron,,,,,,,rs41274458,127
519,chr1,10363664,10363665,g,SNP,Het,t,g,35.00000000,35.00000000,235,113,120,,KIF1B,NM_183416,CDS,Non-Synonymous,M,I,,,,rs41274458,127
K10 COVERAGE:
#chromosome,start,end,num_bases,num_covered_bases,mean_coverage,gene
chr1,10270765,10441661,170897,170857,177.6,KIF1B
MUTATION REPORT K14:
390,chr1,10428570,10428571,g,SNP,Hom,a,a,35.00000000,35.00000000,376,351,351,,KIF1B,NM_015074,CDS,Non-Synonymous,V,M,NonSynonymous,V,M,rs77172218,131
K14 COVERAGE:
#chromosome,start,end,num_bases,num_covered_bases,mean_coverage,gene
chr1,10270765,10441661,170897,170855,226.8,KIF1B
1
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