view test-data/GRCh38_X400k.tsv @ 0:9f4ea174ce3d draft

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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#CHROM	POS	REF	ALT	ANN[*].EFFECT	ANN[*].GENE	ANN[*].FEATUREID	DP	DPR	ANN[*].CDS_POS	ANN[*].HGVS_C	ANN[*].HGVS_P	ANN[*].AA_POS	ANN[*].BIOTYPE
X	284201	T	C	missense_variant	PLCXD1	ENST00000381657	693	1,598	14	n.14T>C	p.Val5Ala	5	ensembl_havana
X	284201	T	C	missense_variant	PLCXD1	ENST00000399012	693	1,598	14	n.14T>C	p.Val5Ala	5	havana
X	284201	T	C	missense_variant	PLCXD1	ENST00000430923	693	1,598	14	n.14T>C	p.Val5Ala	5	havana
X	284201	T	C	missense_variant	PLCXD1	ENST00000445062	693	1,598	14	n.14T>C	p.Val5Ala	5	havana
X	284201	T	C	missense_variant	PLCXD1	ENST00000429181	693	1,598	14	n.14T>C	p.Val5Ala	5	havana
X	284201	T	C	missense_variant	PLCXD1	ENST00000381663	693	1,598	14	n.14T>C	p.Val5Ala	5	ensembl
X	284201	T	C	missense_variant	PLCXD1	ENST00000443019	693	1,598	14	n.14T>C	p.Val5Ala	5	havana
X	284201	T	C	missense_variant	PLCXD1	ENST00000415337	693	1,598	14	n.14T>C	p.Val5Ala	5	havana
X	284201	T	C	missense_variant	PLCXD1	ENST00000447472	693	1,598	14	n.14T>C	p.Val5Ala	5	havana
X	284201	T	C	missense_variant	PLCXD1	ENST00000448477	693	1,598	14	n.14T>C	p.Val5Ala	5	havana
X	288851	G	GC	frameshift_variant	PLCXD1	ENST00000381657	21	3,10	247	n.246_247insC	p.Lys83fs	83	ensembl_havana
X	288851	G	GC	frameshift_variant	PLCXD1	ENST00000399012	21	3,10	247	n.246_247insC	p.Lys83fs	83	havana
X	288851	G	GC	frameshift_variant	PLCXD1	ENST00000430923	21	3,10	247	n.246_247insC	p.Lys83fs	83	havana
X	288851	G	GC	frameshift_variant	PLCXD1	ENST00000445062	21	3,10	247	n.246_247insC	p.Lys83fs	83	havana
X	288851	G	GC	frameshift_variant	PLCXD1	ENST00000381663	21	3,10	247	n.246_247insC	p.Lys83fs	83	ensembl
X	288851	G	GC	frameshift_variant	PLCXD1	ENST00000415337	21	3,10	247	n.246_247insC	p.Lys83fs	83	havana
X	288851	G	GC	frameshift_variant	PLCXD1	ENST00000447472	21	3,10	247	n.246_247insC	p.Lys83fs	83	havana
X	288851	G	GC	frameshift_variant	PLCXD1	ENST00000448477	21	3,10	247	n.246_247insC	p.Lys83fs	83	havana
X	290695	C	G	missense_variant	PLCXD1	ENST00000381657	910	130,681	312	n.312C>G	p.Asp104Glu	104	ensembl_havana
X	290695	C	G	missense_variant	PLCXD1	ENST00000399012	910	130,681	312	n.312C>G	p.Asp104Glu	104	havana
X	290695	C	G	missense_variant	PLCXD1	ENST00000484611	910	130,681	404	n.404C>G	p.Thr135Ser	135	havana
X	290695	C	G	missense_variant	PLCXD1	ENST00000430923	910	130,681	312	n.312C>G	p.Asp104Glu	104	havana
X	290695	C	G	missense_variant	PLCXD1	ENST00000381663	910	130,681	312	n.312C>G	p.Asp104Glu	104	ensembl
X	290695	C	G	missense_variant	PLCXD1	ENST00000415337	910	130,681	312	n.312C>G	p.Asp104Glu	104	havana
X	290695	C	G	missense_variant	PLCXD1	ENST00000447472	910	130,681	312	n.312C>G	p.Asp104Glu	104	havana
X	290695	C	G	missense_variant	PLCXD1	ENST00000448477	910	130,681	312	n.312C>G	p.Asp104Glu	104	havana
X	299221	G	C	missense_variant	PLCXD1	ENST00000381657	18	3,13	858	n.858G>C	p.Glu286Asp	286	ensembl_havana
X	299221	G	C	missense_variant	PLCXD1	ENST00000399012	18	3,13	858	n.858G>C	p.Glu286Asp	286	havana
X	299221	G	C	missense_variant	PLCXD1	ENST00000381663	18	3,13	858	n.858G>C	p.Glu286Asp	286	ensembl
X	307850	G	C	missense_variant	GTPBP6	ENST00000485332	24	7,8	1076	n.1076C>G	p.Pro359Arg	359	havana
X	307850	G	C	missense_variant	GTPBP6	ENST00000326153	24	7,8	1156	n.1156C>G	p.His386Asp	386	ensembl_havana
X	311500	C	CAT	frameshift_variant	GTPBP6	ENST00000485332	56	11,22	963	n.963_964insAT	p.Gly322fs	321	havana
X	311500	C	CAT	frameshift_variant	GTPBP6	ENST00000326153	56	11,22	1043	n.1043_1044insAT	p.Asp349fs	348	ensembl_havana
X	334496	A	G	missense_variant	PPP2R3B	ENST00000477110	159	52,60	5545	n.5545T>C	p.Cys1849Arg	1849	havana
X	334496	A	G	missense_variant	PPP2R3B	ENST00000479438	159	52,60	829	n.829T>C	p.Cys277Arg	277	havana
X	338625	G	A	missense_variant	PPP2R3B	ENST00000390665	308	146,132	1556	n.1556C>T	p.Ala519Val	519	ensembl_havana
X	338625	G	A	missense_variant	PPP2R3B	ENST00000468169	308	146,132	701	n.701C>T	p.Ala234Val	234	havana
X	338627	A	G	missense_variant	PPP2R3B	ENST00000477110	301	0,271	1414	n.1414T>C	p.Cys472Arg	472	havana
X	338627	A	G	missense_variant	PPP2R3B	ENST00000479438	301	0,271	784	n.784T>C	p.Cys262Arg	262	havana
X	338856	A	G	missense_variant	PPP2R3B	ENST00000468169	517	15,390	470	n.470T>C	p.Leu157Pro	157	havana
X	340856	CTG	C	frameshift_variant	PPP2R3B	ENST00000477110	17	0,11	1118	n.1118_1119delCA	p.Ala373fs	373	havana
X	340856	CTG	C	frameshift_variant	PPP2R3B	ENST00000390665	17	0,11	1258	n.1258_1259delCA	p.Gln420fs	420	ensembl_havana
X	340856	CTG	C	frameshift_variant	PPP2R3B	ENST00000479438	17	0,11	488	n.488_489delCA	p.Ala163fs	163	havana
X	340856	CTG	C	frameshift_variant	PPP2R3B	ENST00000468169	17	0,11	336	n.336_337delCA	p.Ser112fs	112	havana
X	340856	CTG	C	frameshift_variant	PPP2R3B	ENST00000484364	17	0,11	639	n.639_640delCA	p.Ser213fs	213	havana
X	340928	C	CA	frameshift_variant	PPP2R3B	ENST00000477110	65	0,50	1047	n.1047_1048insT	p.Val350fs	349	havana
X	340928	C	CA	frameshift_variant	PPP2R3B	ENST00000390665	65	0,50	1187	n.1187_1188insT	p.Trp396fs	396	ensembl_havana
X	340928	C	CA	frameshift_variant	PPP2R3B	ENST00000479438	65	0,50	417	n.417_418insT	p.Val140fs	139	havana
X	340928	C	CA	frameshift_variant	PPP2R3B	ENST00000468169	65	0,50	265	n.265_266insT	p.Gly89fs	89	havana
X	340928	C	CA	frameshift_variant	PPP2R3B	ENST00000484364	65	0,50	568	n.568_569insT	p.Gly190fs	190	havana
X	341347	A	C,G	missense_variant	PPP2R3B	ENST00000477110	48	0,20,15	995	n.995T>G	p.Leu332Arg	332	havana
X	341347	A	C,G	missense_variant	PPP2R3B	ENST00000477110	48	0,20,15	995	n.995T>C	p.Leu332Pro	332	havana
X	341347	A	C,G	missense_variant	PPP2R3B	ENST00000390665	48	0,20,15	1135	n.1135T>G	p.Trp379Gly	379	ensembl_havana
X	341347	A	C,G	missense_variant	PPP2R3B	ENST00000390665	48	0,20,15	1135	n.1135T>C	p.Trp379Arg	379	ensembl_havana
X	341347	A	C,G	missense_variant	PPP2R3B	ENST00000479438	48	0,20,15	365	n.365T>G	p.Leu122Arg	122	havana
X	341347	A	C,G	missense_variant	PPP2R3B	ENST00000479438	48	0,20,15	365	n.365T>C	p.Leu122Pro	122	havana
X	345580	G	A	missense_variant	PPP2R3B	ENST00000390665	6	0,4	972	n.972C>T	p.Trp324Cys	324	ensembl_havana
X	345580	G	A	missense_variant	PPP2R3B	ENST00000468169	6	0,4	50	n.50C>T	p.Gly17Val	17	havana
X	345580	G	A	missense_variant	PPP2R3B	ENST00000484364	6	0,4	47	n.47C>T	p.Gly16Val	16	havana
X	345580	G	A	missense_variant	PPP2R3B	ENST00000477636	6	0,4	434	n.434C>T	p.Gly145Val	145	havana
X	345580	G	A	missense_variant	PPP2R3B	ENST00000445792	6	0,4	1314	n.1314C>T	p.Trp438Cys	438	havana