TCGA-A1-A0SB_db9d40fb-bfce-4c3b-a6c2-41c5c88982f1_a3254f8e-3bbd-42fc-abea-a5f25b7648b3.oxoG.snp.capture.tcga.txt 16.6 KB
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## ENSEMBL VARIANT EFFECT PREDICTOR v101.0
## Output produced at 2020-08-28 09:53:17
## Using cache in /Users/ypradat/.vep/homo_sapiens/101_GRCh37
## Using API version 101, DB version ?
## ensembl-io version 101.943b6c2
## ensembl version 101.856c8e8
## ensembl-variation version 101.50e7372
## ensembl-funcgen version 101.b918a49
## polyphen version 2.2.2
## gencode version GENCODE 19
## genebuild version 2011-04
## dbSNP version 153
## 1000genomes version phase3
## ESP version 20141103
## gnomAD version r2.1
## assembly version GRCh37.p13
## sift version sift5.2.2
## regbuild version 1.0
## ClinVar version 201912
## COSMIC version 90
## HGMD-PUBLIC version 20194
## Column descriptions:
## Uploaded_variation : Identifier of uploaded variant
## Location : Location of variant in standard coordinate format (chr:start or chr:start-end)
## Allele : The variant allele used to calculate the consequence
## Gene : Stable ID of affected gene
## Feature : Stable ID of feature
## Feature_type : Type of feature - Transcript, RegulatoryFeature or MotifFeature
## Consequence : Consequence type
## cDNA_position : Relative position of base pair in cDNA sequence
## CDS_position : Relative position of base pair in coding sequence
## Protein_position : Relative position of amino acid in protein
## Amino_acids : Reference and variant amino acids
## Codons : Reference and variant codon sequence
## Existing_variation : Identifier(s) of co-located known variants
## Extra column keys:
## IMPACT : Subjective impact classification of consequence type
## DISTANCE : Shortest distance from variant to transcript
## STRAND : Strand of the feature (1/-1)
## FLAGS : Transcript quality flags
## SYMBOL : Gene symbol (e.g. HGNC)
## SYMBOL_SOURCE : Source of gene symbol
## HGNC_ID : Stable identifer of HGNC gene symbol
## BIOTYPE : Biotype of transcript or regulatory feature
## CANONICAL : Indicates if transcript is canonical for this gene
## MANE : MANE (Matched Annotation by NCBI and EMBL-EBI) Transcript
## TSL : Transcript support level
## APPRIS : Annotates alternatively spliced transcripts as primary or alternate based on a range of computational methods
## CCDS : Indicates if transcript is a CCDS transcript
## ENSP : Protein identifer
## SWISSPROT : UniProtKB/Swiss-Prot accession
## TREMBL : UniProtKB/TrEMBL accession
## UNIPARC : UniParc accession
## SIFT : SIFT prediction and/or score
## PolyPhen : PolyPhen prediction and/or score
## EXON : Exon number(s) / total
## INTRON : Intron number(s) / total
## HGVSc : HGVS coding sequence name
## HGVSp : HGVS protein sequence name
## HGVS_OFFSET : Indicates by how many bases the HGVS notations for this variant have been shifted
## AF : Frequency of existing variant in 1000 Genomes combined population
## AFR_AF : Frequency of existing variant in 1000 Genomes combined African population
## AMR_AF : Frequency of existing variant in 1000 Genomes combined American population
## EAS_AF : Frequency of existing variant in 1000 Genomes combined East Asian population
## EUR_AF : Frequency of existing variant in 1000 Genomes combined European population
## SAS_AF : Frequency of existing variant in 1000 Genomes combined South Asian population
## AA_AF : Frequency of existing variant in NHLBI-ESP African American population
## EA_AF : Frequency of existing variant in NHLBI-ESP European American population
## gnomAD_AF : Frequency of existing variant in gnomAD exomes combined population
## gnomAD_AFR_AF : Frequency of existing variant in gnomAD exomes African/American population
## gnomAD_AMR_AF : Frequency of existing variant in gnomAD exomes American population
## gnomAD_ASJ_AF : Frequency of existing variant in gnomAD exomes Ashkenazi Jewish population
## gnomAD_EAS_AF : Frequency of existing variant in gnomAD exomes East Asian population
## gnomAD_FIN_AF : Frequency of existing variant in gnomAD exomes Finnish population
## gnomAD_NFE_AF : Frequency of existing variant in gnomAD exomes Non-Finnish European population
## gnomAD_OTH_AF : Frequency of existing variant in gnomAD exomes other combined populations
## gnomAD_SAS_AF : Frequency of existing variant in gnomAD exomes South Asian population
## MAX_AF : Maximum observed allele frequency in 1000 Genomes, ESP and ExAC/gnomAD
## MAX_AF_POPS : Populations in which maximum allele frequency was observed
## CLIN_SIG : ClinVar clinical significance of the dbSNP variant
## SOMATIC : Somatic status of existing variant
## PHENO : Indicates if existing variant(s) is associated with a phenotype, disease or trait; multiple values correspond to multiple variants
## PUBMED : Pubmed ID(s) of publications that cite existing variant
## MOTIF_NAME : The stable identifier of a transcription factor binding profile (TFBP) aligned at this position
## MOTIF_POS : The relative position of the variation in the aligned TFBP
## HIGH_INF_POS : A flag indicating if the variant falls in a high information position of the TFBP
## MOTIF_SCORE_CHANGE : The difference in motif score of the reference and variant sequences for the TFBP
## TRANSCRIPTION_FACTORS : List of transcription factors which bind to the transcription factor binding profile
#Uploaded_variation	Location	Allele	Gene	Feature	Feature_type	Consequence	cDNA_position	CDS_position	Protein_position	Amino_acids	Codons	Existing_variation	Extra
1_44476442_C/T	1:44476442	T	ENSG00000196517	ENST00000360584.2	Transcript	missense_variant	554	362	121	G/D	gGc/gAc	COSV62211565	IMPACT=MODERATE;STRAND=-1;SYMBOL=SLC6A9;SYMBOL_SOURCE=HGNC;HGNC_ID=11056;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS41317.1;ENSP=ENSP00000353791;SWISSPROT=P48067;TREMBL=B7Z589;UNIPARC=UPI000053030B;SIFT=deleterious(0);PolyPhen=probably_damaging(1);EXON=3/14;HGVSc=ENST00000360584.2:c.362G>A;HGVSp=ENSP00000353791.2:p.Gly121Asp;SOMATIC=1;PHENO=1
1_244583577_G/T	1:244583577	T	ENSG00000035687	ENST00000366535.3	Transcript	missense_variant	1002	685	229	P/T	Cca/Aca	-	IMPACT=MODERATE;STRAND=-1;SYMBOL=ADSS;SYMBOL_SOURCE=HGNC;HGNC_ID=292;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS1624.1;ENSP=ENSP00000355493;SWISSPROT=P30520;UNIPARC=UPI0000132AF5;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.983);EXON=8/13;HGVSc=ENST00000366535.3:c.685C>A;HGVSp=ENSP00000355493.3:p.Pro229Thr
2_25678299_C/T	2:25678299	T	ENSG00000138101	ENST00000406818.3	Transcript	missense_variant	1394	1144	382	V/M	Gtg/Atg	rs1230449080,COSV56481440	IMPACT=MODERATE;STRAND=-1;SYMBOL=DTNB;SYMBOL_SOURCE=HGNC;HGNC_ID=3058;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS46237.1;ENSP=ENSP00000384084;SWISSPROT=O60941;TREMBL=Q53TC8,Q53T51,Q53SF9,Q53QV1,F8W9U0,E9PE76,E7ES64;UNIPARC=UPI0000129949;SIFT=deleterious(0.03);PolyPhen=benign(0.379);EXON=11/21;HGVSc=ENST00000406818.3:c.1144G>A;HGVSp=ENSP00000384084.3:p.Val382Met;SOMATIC=0,1;PHENO=0,1
3_85932472_C/T	3:85932472	T	ENSG00000175161	ENST00000405615.2	Transcript	synonymous_variant	249	249	83	R	cgC/cgT	rs747906551,COSV67367857	IMPACT=LOW;STRAND=1;SYMBOL=CADM2;SYMBOL_SOURCE=HGNC;HGNC_ID=29849;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS33792.1;ENSP=ENSP00000384193;SWISSPROT=Q8N3J6;TREMBL=G3XHN8;UNIPARC=UPI000013F077;EXON=3/10;HGVSc=ENST00000405615.2:c.249C>T;HGVSp=ENSP00000384193.2:p.Arg83%3D;gnomAD_AF=1.595e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0.000298;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=8.821e-06;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;MAX_AF=0.000298;MAX_AF_POPS=gnomAD_ASJ;SOMATIC=0,1;PHENO=0,1
6_7986778_G/A	6:7986778	A	ENSG00000219294	ENST00000460661.1	Transcript	non_coding_transcript_exon_variant	9	-	-	-	-	rs1418108697	IMPACT=MODIFIER;STRAND=1;SYMBOL=PIP5K1P1;SYMBOL_SOURCE=HGNC;HGNC_ID=28372;BIOTYPE=processed_pseudogene;CANONICAL=YES;EXON=1/1;HGVSc=ENST00000460661.1:n.9G>A;gnomAD_AF=4.655e-06;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0;gnomAD_FIN_AF=0;gnomAD_NFE_AF=0;gnomAD_OTH_AF=0;gnomAD_SAS_AF=3.517e-05;MAX_AF=3.517e-05;MAX_AF_POPS=gnomAD_SAS
7_75609837_C/G	7:75609837	G	ENSG00000127948	ENST00000461988.1	Transcript	intron_variant	-	-	-	-	-	rs373201804	IMPACT=MODIFIER;STRAND=1;SYMBOL=POR;SYMBOL_SOURCE=HGNC;HGNC_ID=9208;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS5579.1;ENSP=ENSP00000419970;SWISSPROT=P16435;TREMBL=Q59ED7,E7EMD0,C9JQ78;UNIPARC=UPI000013D5F4;INTRON=5/15;HGVSc=ENST00000461988.1:c.516+31C>G
7_149129243_G/A	7:149129243	A	ENSG00000196453	ENST00000247930.4	Transcript	missense_variant	2444	2120	707	S/L	tCg/tTg	COSV56098152	IMPACT=MODERATE;STRAND=-1;SYMBOL=ZNF777;SYMBOL_SOURCE=HGNC;HGNC_ID=22213;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS43675.1;ENSP=ENSP00000247930;SWISSPROT=Q9ULD5;TREMBL=Q3KR11;UNIPARC=UPI0000E9B152;SIFT=tolerated(0.13);PolyPhen=probably_damaging(0.986);EXON=6/6;HGVSc=ENST00000247930.4:c.2120C>T;HGVSp=ENSP00000247930.4:p.Ser707Leu;SOMATIC=1;PHENO=1
7_150840441_C/T	7:150840441	T	ENSG00000133612	ENST00000397238.2	Transcript	missense_variant	2287	2287	763	R/C	Cgc/Tgc	rs372948404	IMPACT=MODERATE;STRAND=1;SYMBOL=AGAP3;SYMBOL_SOURCE=HGNC;HGNC_ID=16923;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS43681.1;ENSP=ENSP00000380413;SWISSPROT=Q96P47;TREMBL=Q96T14,D3DX07;UNIPARC=UPI0000DAC777;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.799);EXON=17/18;HGVSc=ENST00000397238.2:c.2287C>T;HGVSp=ENSP00000380413.2:p.Arg763Cys;AA_AF=0.0002372;EA_AF=0.0001179;gnomAD_AF=6.472e-05;gnomAD_AFR_AF=0.0001292;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=5.565e-05;gnomAD_FIN_AF=0;gnomAD_NFE_AF=5.372e-05;gnomAD_OTH_AF=0.0001668;gnomAD_SAS_AF=0.0001977;MAX_AF=0.0002372;MAX_AF_POPS=AA
10_116247760_T/C	10:116247760	C	ENSG00000099204	ENST00000277895.5	Transcript	missense_variant	1096	998	333	H/R	cAt/cGt	COSV53311631	IMPACT=MODERATE;STRAND=-1;SYMBOL=ABLIM1;SYMBOL_SOURCE=HGNC;HGNC_ID=78;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS7590.1;ENSP=ENSP00000277895;SWISSPROT=O14639;UNIPARC=UPI0000418D06;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.887);EXON=8/23;HGVSc=ENST00000277895.5:c.998A>G;HGVSp=ENSP00000277895.5:p.His333Arg;SOMATIC=1;PHENO=1
12_43944926_T/C	12:43944926	C	ENSG00000173157	ENST00000389420.3	Transcript	missense_variant	239	239	80	Y/C	tAt/tGt	COSV67136109	IMPACT=MODERATE;STRAND=-1;SYMBOL=ADAMTS20;SYMBOL_SOURCE=HGNC;HGNC_ID=17178;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS31778.2;ENSP=ENSP00000374071;SWISSPROT=P59510;UNIPARC=UPI00004565F4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.986);EXON=2/39;HGVSc=ENST00000389420.3:c.239A>G;HGVSp=ENSP00000374071.3:p.Tyr80Cys;SOMATIC=1;PHENO=1
13_50464902_T/C	13:50464902	C	ENSG00000181358	ENST00000318353.2	Transcript	non_coding_transcript_exon_variant	176	-	-	-	-	-	IMPACT=MODIFIER;STRAND=1;SYMBOL=CTAGE10P;SYMBOL_SOURCE=HGNC;HGNC_ID=37288;BIOTYPE=processed_pseudogene;CANONICAL=YES;EXON=1/1;HGVSc=ENST00000318353.2:n.176T>C
14_65266493_T/C	14:65266493	C	ENSG00000070182	ENST00000389722.3	Transcript	missense_variant	1090	1036	346	T/A	Acc/Gcc	COSV67633870	IMPACT=MODERATE;STRAND=-1;SYMBOL=SPTB;SYMBOL_SOURCE=HGNC;HGNC_ID=11274;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS32099.1;ENSP=ENSP00000374372;SWISSPROT=P11277;TREMBL=Q71VG2,Q71VG1,Q71VG0,Q71VF9,Q71VF8,Q59FP5,O14726,O14725;UNIPARC=UPI000053030D;SIFT=tolerated(0.28);PolyPhen=benign(0.074);EXON=8/35;HGVSc=ENST00000389722.3:c.1036A>G;HGVSp=ENSP00000374372.3:p.Thr346Ala;SOMATIC=1;PHENO=1
15_91043489_C/T	15:91043489	T	ENSG00000140575	ENST00000268182.5	Transcript	3_prime_UTR_variant	5247	-	-	-	-	rs922590103	IMPACT=MODIFIER;STRAND=1;SYMBOL=IQGAP1;SYMBOL_SOURCE=HGNC;HGNC_ID=6110;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS10362.1;ENSP=ENSP00000268182;SWISSPROT=P46940;TREMBL=H0YKA5;UNIPARC=UPI000012D863;EXON=38/38;HGVSc=ENST00000268182.5:c.*149C>T
16_88790292_T/C	16:88790292	C	ENSG00000103335	ENST00000301015.9	Transcript	missense_variant	4569	4322	1441	Q/R	cAg/cGg	COSV56341017	IMPACT=MODERATE;STRAND=-1;SYMBOL=PIEZO1;SYMBOL_SOURCE=HGNC;HGNC_ID=28993;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS54058.1;ENSP=ENSP00000301015;SWISSPROT=Q92508;UNIPARC=UPI0001B300F3;SIFT=tolerated(0.25);PolyPhen=possibly_damaging(0.78);EXON=31/51;HGVSc=ENST00000301015.9:c.4322A>G;HGVSp=ENSP00000301015.9:p.Gln1441Arg;SOMATIC=1;PHENO=1
17_40272381_G/A	17:40272381	A	ENSG00000108773	ENST00000225916.5	Transcript	synonymous_variant	525	471	157	H	caC/caT	rs536716483,COSV56792144	IMPACT=LOW;STRAND=-1;SYMBOL=KAT2A;SYMBOL_SOURCE=HGNC;HGNC_ID=4201;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS11417.1;ENSP=ENSP00000225916;SWISSPROT=Q92830;TREMBL=K7ERS6;UNIPARC=UPI000000D978;EXON=3/18;HGVSc=ENST00000225916.5:c.471C>T;HGVSp=ENSP00000225916.5:p.His157%3D;AF=0.0002;AFR_AF=0;AMR_AF=0;EAS_AF=0.001;EUR_AF=0;SAS_AF=0;gnomAD_AF=2.386e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=2.892e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0001087;gnomAD_FIN_AF=0;gnomAD_NFE_AF=2.638e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;MAX_AF=0.001;MAX_AF_POPS=EAS;SOMATIC=0,1;PHENO=0,1
19_42585066_G/A	19:42585066	A	ENSG00000105732	ENST00000600245.1	Transcript	missense_variant	2963	2308	770	D/N	Gac/Aac	COSV55905712,COSV55906893,COSV55907568	IMPACT=MODERATE;STRAND=1;SYMBOL=ZNF574;SYMBOL_SOURCE=HGNC;HGNC_ID=26166;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS12596.1;ENSP=ENSP00000469029;SWISSPROT=Q6ZN55;TREMBL=Q9NT61,M0R133;UNIPARC=UPI00001AE536;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.917);EXON=2/2;HGVSc=ENST00000600245.1:c.2308G>A;HGVSp=ENSP00000469029.1:p.Asp770Asn;SOMATIC=1,1,1;PHENO=1,1,1
20_16730581_G/A	20:16730581	A	ENSG00000125879	ENST00000246081.2	Transcript	missense_variant	333	289	97	V/M	Gtg/Atg	rs776130394,COSV55722123	IMPACT=MODERATE;STRAND=1;SYMBOL=OTOR;SYMBOL_SOURCE=HGNC;HGNC_ID=8517;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS13124.1;ENSP=ENSP00000246081;SWISSPROT=Q9NRC9;UNIPARC=UPI0000047809;SIFT=deleterious(0);PolyPhen=probably_damaging(0.961);EXON=3/4;HGVSc=ENST00000246081.2:c.289G>A;HGVSp=ENSP00000246081.2:p.Val97Met;gnomAD_AF=1.593e-05;gnomAD_AFR_AF=0;gnomAD_AMR_AF=0;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.000109;gnomAD_FIN_AF=0;gnomAD_NFE_AF=1.761e-05;gnomAD_OTH_AF=0;gnomAD_SAS_AF=0;MAX_AF=0.000109;MAX_AF_POPS=gnomAD_EAS;SOMATIC=0,1;PHENO=0,1
22_23040479_C/G	22:23040479	G	ENSG00000211660	ENST00000390306.2	Transcript	missense_variant,splice_region_variant	206	44	15	T/R	aCa/aGa	-	IMPACT=MODERATE;STRAND=1;FLAGS=cds_end_NF;SYMBOL=IGLV2-23;SYMBOL_SOURCE=HGNC;HGNC_ID=5890;BIOTYPE=IG_V_gene;CANONICAL=YES;ENSP=ENSP00000374841;UNIPARC=UPI000173A2CA;SIFT=deleterious_low_confidence(0);PolyPhen=possibly_damaging(0.852);EXON=1/2;HGVSc=ENST00000390306.2:c.44C>G;HGVSp=ENSP00000374841.2:p.Thr15Arg
rs143435240	X:51076024	A	ENSG00000122824	ENST00000376006.3	Transcript	synonymous_variant	427	207	69	E	gaG/gaA	rs2801626,COSV62853869	IMPACT=LOW;STRAND=1;SYMBOL=NUDT10;SYMBOL_SOURCE=HGNC;HGNC_ID=17621;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS35278.1;ENSP=ENSP00000365174;SWISSPROT=Q8NFP7;UNIPARC=UPI000006D69E;EXON=2/3;HGVSc=ENST00000376006.3:c.207G>A;HGVSp=ENSP00000365174.3:p.Glu69%3D;gnomAD_AF=0.000682;gnomAD_AFR_AF=0.0004641;gnomAD_AMR_AF=3.658e-05;gnomAD_ASJ_AF=0;gnomAD_EAS_AF=0.0007976;gnomAD_FIN_AF=0.0002512;gnomAD_NFE_AF=0.001234;gnomAD_OTH_AF=0.0004457;gnomAD_SAS_AF=0;MAX_AF=0.001234;MAX_AF_POPS=gnomAD_NFE;SOMATIC=0,1;PHENO=0,1
X_77160816_A/G	X:77160816	G	ENSG00000131174	ENST00000481445.1	Transcript	3_prime_UTR_variant	417	-	-	-	-	rs782235659,COSV64864574	IMPACT=MODIFIER;STRAND=1;SYMBOL=COX7B;SYMBOL_SOURCE=HGNC;HGNC_ID=2291;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS14437.1;ENSP=ENSP00000417656;SWISSPROT=P24311;UNIPARC=UPI0000049C75;EXON=3/3;HGVSc=ENST00000481445.1:c.*58A>G;SOMATIC=0,1;PHENO=0,1
X_77160852_T/A	X:77160852	A	ENSG00000131174	ENST00000481445.1	Transcript	3_prime_UTR_variant	453	-	-	-	-	rs1557221045	IMPACT=MODIFIER;STRAND=1;SYMBOL=COX7B;SYMBOL_SOURCE=HGNC;HGNC_ID=2291;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS14437.1;ENSP=ENSP00000417656;SWISSPROT=P24311;UNIPARC=UPI0000049C75;EXON=3/3;HGVSc=ENST00000481445.1:c.*94T>A
X_78216689_C/T	X:78216689	T	ENSG00000078589	ENST00000171757.2	Transcript	synonymous_variant	952	672	224	S	tcC/tcT	rs866278031,COSV50681285,COSV50683757	IMPACT=LOW;STRAND=1;SYMBOL=P2RY10;SYMBOL_SOURCE=HGNC;HGNC_ID=19906;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS14442.1;ENSP=ENSP00000171757;SWISSPROT=O00398;UNIPARC=UPI0000050471;EXON=4/4;HGVSc=ENST00000171757.2:c.672C>T;HGVSp=ENSP00000171757.2:p.Ser224%3D;SOMATIC=0,1,1;PHENO=0,1,1
X_122757148_A/T	X:122757148	T	ENSG00000125676	ENST00000245838.8	Transcript	intron_variant	-	-	-	-	-	-	IMPACT=MODIFIER;STRAND=-1;SYMBOL=THOC2;SYMBOL_SOURCE=HGNC;HGNC_ID=19073;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS43988.1;ENSP=ENSP00000245838;SWISSPROT=Q8NI27;UNIPARC=UPI00001D7C42;INTRON=28/38;HGVSc=ENST00000245838.8:c.3504-14T>A
X_152684244_T/G	X:152684244	G	ENSG00000189420	ENST00000338647.5	Transcript	missense_variant	148	147	49	H/Q	caT/caG	-	IMPACT=MODERATE;STRAND=1;SYMBOL=ZFP92;SYMBOL_SOURCE=HGNC;HGNC_ID=12865;BIOTYPE=protein_coding;CANONICAL=YES;CCDS=CCDS59177.1;ENSP=ENSP00000462054;SWISSPROT=A6NM28;UNIPARC=UPI000052B478;SIFT=deleterious(0.03);PolyPhen=probably_damaging(0.913);EXON=2/4;HGVSc=ENST00000338647.5:c.147T>G;HGVSp=ENSP00000462054.1:p.His49Gln