Mercurial > repos > jjohnson > ensembl_variant_report

comparison test-data/GRCh38_X400k_EFF.vcf @ 0:9f4ea174ce3d draft

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planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
author jjohnson
date Thu, 14 Jun 2018 17:51:39 -0400
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-1:000000000000 0:9f4ea174ce3d
1 ##fileformat=VCFv4.2
2 ##FILTER=<ID=PASS,Description="All filters passed">
3 ##samtoolsVersion=1.2+htslib-1.2.1
4 ##samtoolsCommand=samtools mpileup -f /panfs/roc/rissdb/galaxy/genomes/GRCh38_canon/seq/GRCh38_canon.fa --BCF --output-tags DP,DPR,DV,DP4,INFO/DPR,SP --output /panfs/roc/galaxy/GALAXYP/files/000/144/dataset_144978.dat localbam_0.bam
5 ##reference=file:///panfs/roc/rissdb/galaxy/genomes/GRCh38_canon/seq/GRCh38_canon.fa
6 ##contig=<ID=1,length=248956422>
7 ##contig=<ID=2,length=242193529>
8 ##contig=<ID=3,length=198295559>
9 ##contig=<ID=4,length=190214555>
10 ##contig=<ID=5,length=181538259>
11 ##contig=<ID=6,length=170805979>
12 ##contig=<ID=7,length=159345973>
13 ##contig=<ID=8,length=145138636>
14 ##contig=<ID=9,length=138394717>
15 ##contig=<ID=10,length=133797422>
16 ##contig=<ID=11,length=135086622>
17 ##contig=<ID=12,length=133275309>
18 ##contig=<ID=13,length=114364328>
19 ##contig=<ID=14,length=107043718>
20 ##contig=<ID=15,length=101991189>
21 ##contig=<ID=16,length=90338345>
22 ##contig=<ID=17,length=83257441>
23 ##contig=<ID=18,length=80373285>
24 ##contig=<ID=19,length=58617616>
25 ##contig=<ID=20,length=64444167>
26 ##contig=<ID=21,length=46709983>
27 ##contig=<ID=22,length=50818468>
28 ##contig=<ID=X,length=156040895>
29 ##contig=<ID=Y,length=57227415>
30 ##contig=<ID=MT,length=16569>
31 ##ALT=<ID=X,Description="Represents allele(s) other than observed.">
32 ##INFO=<ID=INDEL,Number=0,Type=Flag,Description="Indicates that the variant is an INDEL.">
33 ##INFO=<ID=IDV,Number=1,Type=Integer,Description="Maximum number of reads supporting an indel">
34 ##INFO=<ID=IMF,Number=1,Type=Float,Description="Maximum fraction of reads supporting an indel">
35 ##INFO=<ID=DP,Number=1,Type=Integer,Description="Raw read depth">
36 ##INFO=<ID=VDB,Number=1,Type=Float,Description="Variant Distance Bias for filtering splice-site artefacts in RNA-seq data (bigger is better)",Version="3">
37 ##INFO=<ID=RPB,Number=1,Type=Float,Description="Mann-Whitney U test of Read Position Bias (bigger is better)">
38 ##INFO=<ID=MQB,Number=1,Type=Float,Description="Mann-Whitney U test of Mapping Quality Bias (bigger is better)">
39 ##INFO=<ID=BQB,Number=1,Type=Float,Description="Mann-Whitney U test of Base Quality Bias (bigger is better)">
40 ##INFO=<ID=MQSB,Number=1,Type=Float,Description="Mann-Whitney U test of Mapping Quality vs Strand Bias (bigger is better)">
41 ##INFO=<ID=SGB,Number=1,Type=Float,Description="Segregation based metric.">
42 ##INFO=<ID=MQ0F,Number=1,Type=Float,Description="Fraction of MQ0 reads (smaller is better)">
43 ##FORMAT=<ID=PL,Number=G,Type=Integer,Description="List of Phred-scaled genotype likelihoods">
44 ##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Number of high-quality bases">
45 ##FORMAT=<ID=DV,Number=1,Type=Integer,Description="Number of high-quality non-reference bases">
46 ##FORMAT=<ID=DPR,Number=R,Type=Integer,Description="Number of high-quality bases observed for each allele">
47 ##INFO=<ID=DPR,Number=R,Type=Integer,Description="Number of high-quality bases observed for each allele">
48 ##FORMAT=<ID=DP4,Number=4,Type=Integer,Description="Number of high-quality ref-fwd, ref-reverse, alt-fwd and alt-reverse bases">
49 ##FORMAT=<ID=SP,Number=1,Type=Integer,Description="Phred-scaled strand bias P-value">
50 ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
51 ##INFO=<ID=ICB,Number=1,Type=Float,Description="Inbreeding Coefficient Binomial test (bigger is better)">
52 ##INFO=<ID=HOB,Number=1,Type=Float,Description="Bias in the number of HOMs number (smaller is better)">
53 ##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes for each ALT allele, in the same order as listed">
54 ##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
55 ##INFO=<ID=DP4,Number=4,Type=Integer,Description="Number of high-quality ref-forward , ref-reverse, alt-forward and alt-reverse bases">
56 ##INFO=<ID=MQ,Number=1,Type=Integer,Description="Average mapping quality">
57 ##bcftools_callVersion=1.3+htslib-1.3
58 ##bcftools_callCommand=call -m --variants-only --output-type b --threads 1 input.bcf
59 ##bcftools_viewVersion=1.3+htslib-1.3
60 ##bcftools_viewCommand=view --exclude 'DP < 5 || DPR[1] < 3 || MIN(DV/DP)<0.33' --targets ^Mt --output-type v --threads 1 input.bcf
61 ##bcftools_viewCommand=view --exclude 'DP < 5 || DPR[1] < 3 || MIN(DV/DP)<0.33' --targets X --output-type v --threads 1 input.vcf.gz
62 ##bcftools_viewCommand=view --exclude 'DP < 5 || DPR[1] < 3 || MIN(DV/DP)<0.33' --regions X:1-400000 --output-type v --threads 1 input.vcf.gz
63 ##SnpEffVersion="4.1l (build 2015-10-03), by Pablo Cingolani"
64 ##SnpEffCmd="SnpEff -i vcf -o vcf -classic -formatEff -no-downstream -no-intergenic -no-intron -no-upstream -no-utr -no CDS -no CHROMOSOME_LARGE_DELETION -no CODON_CHANGE -no CODON_INSERTION -no CODON_CHANGE_PLUS_CODON_INSERTION -no CODON_DELETION -no CODON_CHANGE_PLUS_CODON_DELETION -no DOWNSTREAM -no EXON -no EXON_DELETED -no GENE -no INTERGENIC -no INTERGENIC_CONSERVED -no INTRAGENIC -no INTRON -no INTRON_CONSERVED -no MICRO_RNA -no NON_SYNONYMOUS_START -no NON_SYNONYMOUS_STOP -no RARE_AMINO_ACID -no SPLICE_SITE_ACCEPTOR -no SPLICE_SITE_DONOR -no SPLICE_SITE_REGION -no SPLICE_SITE_BRANCH -no SPLICE_SITE_BRANCH_U12 -no STOP_LOST -no START_GAINED -no START_LOST -no STOP_GAINED -no SYNONYMOUS_CODING -no SYNONYMOUS_START -no SYNONYMOUS_STOP -no REGULATION -no UPSTREAM -no UTR_3_PRIME -no UTR_3_DELETED -no UTR_5_PRIME -no UTR_5_DELETED -no NEXT_PROT -stats /panfs/roc/galaxy/GALAXYP/files/000/148/dataset_148027.dat GRCh38.78 /panfs/roc/galaxy/GALAXYP/files/000/148/dataset_148008.dat "
65 ##INFO=<ID=EFF,Number=.,Type=String,Description="Predicted effects for this variant.Format: 'Effect ( Effect_Impact | Functional_Class | Codon_Change | Amino_Acid_Change| Amino_Acid_length | Gene_Name | Transcript_BioType | Gene_Coding | Transcript_ID | Exon_Rank | Genotype [ | ERRORS | WARNINGS ] )' ">
66 ##INFO=<ID=LOF,Number=.,Type=String,Description="Predicted loss of function effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected' ">
67 ##INFO=<ID=NMD,Number=.,Type=String,Description="Predicted nonsense mediated decay effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected' ">
68 ##SnpSiftVersion="SnpSift 4.1l (build 2015-10-03), by Pablo Cingolani"
69 ##SnpSiftCmd="SnpSift filter -f /panfs/roc/galaxy/GALAXYP/files/000/148/dataset_148026.dat -e /panfs/roc/galaxy/GALAXYP/job_working_directory/000/126/126614/tmpzEvowV"
70 ##FILTER=<ID=SnpSift,Description="SnpSift 4.1l (build 2015-10-03), by Pablo Cingolani, Expression used: ( EFF[*].EFFECT has 'NON_SYNONYMOUS_CODING' | EFF[*].EFFECT has 'FRAME_SHIFT')">
71 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT localbam_0.bam
72 X 284201 . T C 219.0 . DP=693;VDB=0.999766;SGB=-0.693147;RPB=1;MQB=1;MQSB=0.382033;BQB=1;MQ0F=0.001443;DPR=1,598;AC=2;AN=2;DP4=1,0,425,173;MQ=17;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V5A||PLCXD1|ensembl_havana||ENST00000381657|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V5A||PLCXD1|havana||ENST00000399012|3|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V5A||PLCXD1|havana||ENST00000430923|2|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V5A||PLCXD1|havana||ENST00000445062|3|C|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V5A||PLCXD1|havana||ENST00000429181|3|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V5A||PLCXD1|ensembl||ENST00000381663|2|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V5A||PLCXD1|havana||ENST00000443019|2|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V5A||PLCXD1|havana||ENST00000415337|2|C|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V5A||PLCXD1|havana||ENST00000447472|2|C|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V5A||PLCXD1|havana||ENST00000448477|1|C|WARNING_TRANSCRIPT_INCOMPLETE) GT:PL:DP:DV:SP:DP4:DPR 1/1:246,255,0:599:598:0:1,0,425,173:1,598
73 X 288851 . G GC 30.4966 . DP=21;VDB=0.0115453;SGB=-0.670168;RPB=0.597928;MQB=1;BQB=0.968368;MQ0F=0;DPR=3,10;ICB=1;HOB=0.5;AC=1;AN=2;DP4=3,0,10,0;MQ=20;EFF=FRAME_SHIFT(HIGH||aaa/Caaa|K83Q?||PLCXD1|ensembl_havana||ENST00000381657|3|GC),FRAME_SHIFT(HIGH||aaa/Caaa|K83Q?||PLCXD1|havana||ENST00000399012|4|GC),FRAME_SHIFT(HIGH||aaa/Caaa|K83Q?||PLCXD1|havana||ENST00000430923|3|GC|WARNING_TRANSCRIPT_INCOMPLETE),FRAME_SHIFT(HIGH||aaa/Caaa|K83Q?||PLCXD1|havana||ENST00000445062|4|GC|WARNING_TRANSCRIPT_NO_STOP_CODON),FRAME_SHIFT(HIGH||aaa/Caaa|K83Q?||PLCXD1|ensembl||ENST00000381663|3|GC),FRAME_SHIFT(HIGH||aaa/Caaa|K83Q?||PLCXD1|havana||ENST00000415337|3|GC|WARNING_TRANSCRIPT_NO_STOP_CODON),FRAME_SHIFT(HIGH||aaa/Caaa|K83Q?||PLCXD1|havana||ENST00000447472|3|GC|WARNING_TRANSCRIPT_INCOMPLETE),FRAME_SHIFT(HIGH||aaa/Caaa|K83Q?||PLCXD1|havana||ENST00000448477|2|GC|WARNING_TRANSCRIPT_INCOMPLETE) GT:PL:DP:DV:SP:DP4:DPR 0/1:64,0,15:13:10:0:3,0,10,0:3,10
74 X 290695 . C G 114.0 . DP=910;VDB=0.336517;SGB=-0.693147;RPB=0.479982;MQB=0.997299;MQSB=0.999049;BQB=0.555736;MQ0F=0.010989;DPR=130,681;AC=2;AN=2;DP4=72,58,392,289;MQ=18;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D104E||PLCXD1|ensembl_havana||ENST00000381657|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D104E||PLCXD1|havana||ENST00000399012|5|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aGc|T135S||PLCXD1|havana||ENST00000484611|4|G|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D104E||PLCXD1|havana||ENST00000430923|4|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D104E||PLCXD1|ensembl||ENST00000381663|4|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D104E||PLCXD1|havana||ENST00000415337|4|G|WARNING_TRANSCRIPT_NO_STOP_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D104E||PLCXD1|havana||ENST00000447472|4|G|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaC/gaG|D104E||PLCXD1|havana||ENST00000448477|3|G|WARNING_TRANSCRIPT_INCOMPLETE) GT:PL:DP:DV:SP:DP4:DPR 1/1:141,210,0:811:681:2:72,58,392,289:130,681
75 X 299221 . G C 77.0 . DP=18;VDB=0.00122481;SGB=-0.683931;RPB=0.169694;MQB=1;MQSB=1;BQB=0.560355;MQ0F=0;DPR=3,13;ICB=1;HOB=0.5;AC=1;AN=2;DP4=1,2,9,4;MQ=20;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E286D||PLCXD1|ensembl_havana||ENST00000381657|7|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E286D||PLCXD1|havana||ENST00000399012|8|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E286D||PLCXD1|ensembl||ENST00000381663|7|C) GT:PL:DP:DV:SP:DP4:DPR 0/1:110,0,10:16:13:3:1,2,9,4:3,13
76 X 307850 . G C 40.3947 . DP=24;VDB=0.351291;SGB=-0.651104;RPB=0.511891;MQB=1;MQSB=1;BQB=0.720273;MQ0F=0;DPR=7,8;ICB=1;HOB=0.5;AC=1;AN=2;DP4=5,2,6,2;MQ=20;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cGa|P359R||GTPBP6|havana||ENST00000485332|2|C|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cac/Gac|H386D||GTPBP6|ensembl_havana||ENST00000326153|8|C) GT:PL:DP:DV:SP:DP4:DPR 0/1:73,0,69:15:8:0:5,2,6,2:7,8
77 X 311500 . C CAT 59.0 . DP=56;VDB=0.625112;SGB=-0.692562;RPB=0.999818;MQB=0.915545;MQSB=0.982508;BQB=0.929674;MQ0F=0;DPR=11,22;ICB=1;HOB=0.5;AC=1;AN=2;DP4=11,0,19,3;MQ=18;EFF=FRAME_SHIFT(HIGH||cgt/cgtAT|R321R?||GTPBP6|havana||ENST00000485332|1|CAT|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),FRAME_SHIFT(HIGH||gtg/gtATg|V348V?||GTPBP6|ensembl_havana||ENST00000326153|7|CAT) GT:PL:DP:DV:SP:DP4:DPR 0/1:92,0,40:33:22:3:11,0,19,3:11,22
78 X 334496 . A G 30.4121 . DP=159;VDB=0.0384616;SGB=-0.693147;RPB=0.000107797;MQB=0.271035;MQSB=0.730753;BQB=0.124283;MQ0F=0.0880503;DPR=52,60;ICB=1;HOB=0.5;AC=1;AN=2;DP4=48,4,58,3;MQ=16;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C1849R||PPP2R3B|havana||ENST00000477110|8|G|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgt/Cgt|C277R||PPP2R3B|havana||ENST00000479438|5|G|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS) GT:PL:DP:DV:SP:DP4:DPR 0/1:63,0,72:113:61:2:48,4,58,3:52,60
79 X 338625 . G A 74.0 . DP=308;VDB=6.22534e-11;SGB=-0.693147;RPB=0.0585974;MQB=0.956346;MQSB=0.973687;BQB=0.279044;MQ0F=0.0681818;DPR=146,132;ICB=1;HOB=0.5;AC=1;AN=2;DP4=122,24,108,24;MQ=16;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A519V||PPP2R3B|ensembl_havana||ENST00000390665|12|A),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gCg/gTg|A234V||PPP2R3B|havana||ENST00000468169|5|A|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS) GT:PL:DP:DV:SP:DP4:DPR 0/1:107,0,99:278:132:1:122,24,108,24:146,132
80 X 338627 . A G 190.0 . DP=301;VDB=1.9745e-09;SGB=-0.693147;MQSB=0.973119;MQ0F=0.0697674;DPR=0,271;AC=2;AN=2;DP4=0,0,229,42;MQ=16;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C472R||PPP2R3B|havana||ENST00000477110|8|G|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C262R||PPP2R3B|havana||ENST00000479438|4|G|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS) GT:PL:DP:DV:SP:DP4:DPR 1/1:217,255,0:271:271:0:0,0,229,42:0,271
81 X 338856 . A G 182.0 . DP=517;VDB=0.238596;SGB=-0.693147;RPB=0.857702;MQB=0.810962;MQSB=0.0368774;BQB=0.944745;MQ0F=0.0135397;DPR=15,390;AC=2;AN=2;DP4=7,8,244,146;MQ=16;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTa/cCa|L157P||PPP2R3B|havana||ENST00000468169|5|G|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS) GT:PL:DP:DV:SP:DP4:DPR 1/1:209,255,0:405:390:6:7,8,244,146:15,390
82 X 340856 . CTG C 107.0 . DP=17;VDB=3.781e-05;SGB=-0.676189;MQSB=0.8618;MQ0F=0;DPR=0,11;AC=2;AN=2;DP4=0,0,6,5;MQ=18;EFF=FRAME_SHIFT(HIGH||gca/|A373||PPP2R3B|havana||ENST00000477110|6|C|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),FRAME_SHIFT(HIGH||cag/|Q420||PPP2R3B|ensembl_havana||ENST00000390665|10|C),FRAME_SHIFT(HIGH||gca/|A163||PPP2R3B|havana||ENST00000479438|2|C|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),FRAME_SHIFT(HIGH||agcagt/|SS112||PPP2R3B|havana||ENST00000468169|4|C|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),FRAME_SHIFT(HIGH||agcagt/|SS213||PPP2R3B|havana||ENST00000484364|4|C|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS) GT:PL:DP:DV:SP:DP4:DPR 1/1:134,33,0:11:11:0:0,0,6,5:0,11
83 X 340928 . C CA 181.0 . DP=65;VDB=2.0017e-11;SGB=-0.693147;MQSB=0.996914;MQ0F=0;DPR=0,50;AC=2;AN=2;DP4=0,0,21,29;MQ=19;EFF=FRAME_SHIFT(HIGH||ctg/ctgT|L349L?||PPP2R3B|havana||ENST00000477110|6|CA|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),FRAME_SHIFT(HIGH||tgg/tgTg|W396C?||PPP2R3B|ensembl_havana||ENST00000390665|10|CA),FRAME_SHIFT(HIGH||ctg/ctgT|L139L?||PPP2R3B|havana||ENST00000479438|2|CA|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),FRAME_SHIFT(HIGH||ggt/gTgt|G89V?||PPP2R3B|havana||ENST00000468169|4|CA|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),FRAME_SHIFT(HIGH||ggt/gTgt|G190V?||PPP2R3B|havana||ENST00000484364|4|CA|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS) GT:PL:DP:DV:SP:DP4:DPR 1/1:208,151,0:50:50:0:0,0,21,29:0,50
84 X 341347 . A C,G 170.0 . DP=48;VDB=0.802018;SGB=-0.693136;MQSB=0.969233;MQ0F=0;DPR=0,20,15;AC=2;AN=2;DP4=0,0,20,15;MQ=19;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L332R||PPP2R3B|havana||ENST00000477110|5|C|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L332P||PPP2R3B|havana||ENST00000477110|5|G|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Ggg|W379G||PPP2R3B|ensembl_havana||ENST00000390665|9|C),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W379R||PPP2R3B|ensembl_havana||ENST00000390665|9|G),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L122R||PPP2R3B|havana||ENST00000479438|1|C|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L122P||PPP2R3B|havana||ENST00000479438|1|G|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS) GT:PL:DP:DV:SP:DP4:DPR 1/1:197,105,0:35:35:0:0,0,20,15:0,20,15
85 X 345580 . G A 41.8455 . DP=6;VDB=0.910845;SGB=-0.556411;MQSB=1;MQ0F=0;DPR=0,4;AC=2;AN=2;DP4=0,0,3,1;MQ=20;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W324C||PPP2R3B|ensembl_havana||ENST00000390665|7|A|WARNING_REF_DOES_NOT_MATCH_GENOME),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gTg|G17V||PPP2R3B|havana||ENST00000468169|1|A|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&WARNING_REF_DOES_NOT_MATCH_GENOME),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gTg|G16V||PPP2R3B|havana||ENST00000484364|1|A|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&WARNING_REF_DOES_NOT_MATCH_GENOME),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGg/gTg|G145V||PPP2R3B|havana||ENST00000477636|2|A|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&WARNING_REF_DOES_NOT_MATCH_GENOME),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tgG/tgT|W438C||PPP2R3B|havana||ENST00000445792|8|A|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&WARNING_REF_DOES_NOT_MATCH_GENOME) GT:PL:DP:DV:SP:DP4:DPR 1/1:69,12,0:4:4:0:0,0,3,1:0,4