JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
PNMA6A_chrX_153067454_153080019	153073513	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG01169.hp1 HG01169.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0025 a0009c0010t0025	a0009c0010t0025g0001 a0009c0010t0025g0001	1	86	0.0116	1	c.453 others(4): Show c.453dupG	p.Cys others(5): Show p.Cys152fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	735/2238	454/1200	152/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073519	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0012 a0007c0008t0012	a0007c0008t0012g0012 a0007c0008t0012g0012	1	86	0.0116	1	c.458 others(4): Show c.458dupA	p.Ser others(5): Show p.Ser154fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	740/2238	459/1200	153/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073555	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0012 a0007c0008t0012	a0007c0008t0012g0012 a0007c0008t0012g0012	1	86	0.0116	1	c.497 others(4): Show c.497dupC	p.Gly others(5): Show p.Gly167fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	779/2238	498/1200	166/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073619	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0030 a0011c0021t0030	a0011c0021t0030g0001 a0011c0021t0030g0001	1	86	0.0116	1	c.562 others(4): Show c.562dupG	p.Val others(5): Show p.Val188fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	844/2238	563/1200	188/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073668	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19060.hp2 NA19060.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0010 a0018c0022t0010	a0018c0022t0010g0008 a0018c0022t0010g0008	1	86	0.0116	1	c.609 others(4): Show c.609dupG	p.Thr others(5): Show p.Thr204fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	891/2238	610/1200	204/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073692	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA18977.hp1 NA18977.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0015 a0015c0017t0015	a0015c0017t0015g0001 a0015c0017t0015g0001	1	86	0.0116	1	c.630 others(8): Show c.630_631insA	p.Ala others(5): Show p.Ala211fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	912/2238	631/1200	211/399		chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073755	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19060.hp2 NA19060.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0010 a0018c0022t0010	a0018c0022t0010g0008 a0018c0022t0010g0008	1	86	0.0116	1	c.696 others(4): Show c.696dupT	p.Gly others(5): Show p.Gly233fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	978/2238	697/1200	233/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073771	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG02896.hp1 HG02896.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0018 a0010c0012t0018	a0010c0012t0018g0001 a0010c0012t0018g0001	1	86	0.0116	-1	c.712 others(4): Show c.712delC	p.Gln others(5): Show p.Gln238fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	993/2238	712/1200	238/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073786	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18977.hp1 NA18977.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0015 a0015c0017t0015	a0015c0017t0015g0001 a0015c0017t0015g0001	1	86	0.0116	1	c.727 others(4): Show c.727dupG	p.Val others(5): Show p.Val243fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1009/2238	728/1200	243/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073818	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG02896.hp1 HG02896.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0018 a0010c0012t0018	a0010c0012t0018g0001 a0010c0012t0018g0001	1	86	0.0116	1	c.758 others(4): Show c.758dupG	p.Glu others(5): Show p.Glu254fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1040/2238	759/1200	253/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073825	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19060.hp2 NA19060.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0010 a0018c0022t0010	a0018c0022t0010g0008 a0018c0022t0010g0008	1	86	0.0116	1	c.764 others(4): Show c.764dupG	p.Leu others(5): Show p.Leu256fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1046/2238	765/1200	255/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073883	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG02135.hp1 HG02135.hp1	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0031 a0020c0024t0031	a0020c0024t0031g0009 a0020c0024t0031g0009	1	86	0.0116	1	c.823 others(4): Show c.823dupG	p.Ala others(5): Show p.Ala275fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1105/2238	824/1200	275/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073910	G G	GT GT	frameshift_variant frameshift_variant	HIGH	HG02896.hp1 HG02896.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0018 a0010c0012t0018	a0010c0012t0018g0001 a0010c0012t0018g0001	1	86	0.0116	1	c.848 others(8): Show c.848_849insT	p.Val others(5): Show p.Val284fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1130/2238	849/1200	283/399		chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073936	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0012 a0007c0008t0012	a0007c0008t0012g0012 a0007c0008t0012g0012	1	86	0.0116	1	c.877 others(4): Show c.877dupG	p.Ala others(5): Show p.Ala293fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1159/2238	878/1200	293/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073945	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG02896.hp1 HG02896.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0018 a0010c0012t0018	a0010c0012t0018g0001 a0010c0012t0018g0001	1	86	0.0116	-1	c.885 others(4): Show c.885delT	p.Thr others(5): Show p.Thr296fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1166/2238	885/1200	295/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073972	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00438.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0002 a0013c0019t0002	a0013c0019t0002g0001 a0013c0019t0002g0001	1	86	0.0116	-1	c.912 others(4): Show c.912delG	p.Lys others(5): Show p.Lys305fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1193/2238	912/1200	304/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073984	A A	ATGGCC ATGGCC	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0030 a0011c0021t0030	a0011c0021t0030g0001 a0011c0021t0030g0001	1	86	0.0116	5	c.923 others(12): Show c.923_927dupTGGCC	p.Gly others(5): Show p.Gly310fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1209/2238	928/1200	310/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153073995	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19060.hp2 NA19060.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0010 a0018c0022t0010	a0018c0022t0010g0008 a0018c0022t0010g0008	1	86	0.0116	1	c.934 others(4): Show c.934dupT	p.Ser others(5): Show p.Ser312fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1216/2238	935/1200	312/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153074018	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0012 a0007c0008t0012	a0007c0008t0012g0012 a0007c0008t0012g0012	1	86	0.0116	1	c.960 others(4): Show c.960dupG	p.Leu others(5): Show p.Leu321fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1242/2238	961/1200	321/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153074050	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0012 a0007c0008t0012	a0007c0008t0012g0012 a0007c0008t0012g0012	1	86	0.0116	-1	c.990 others(4): Show c.990delC	p.Ser others(5): Show p.Ser331fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1271/2238	990/1200	330/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153074088	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG02135.hp1 HG02896.hp1 HG02135.hp1 HG02896.hp1	a0010 a0020 a0010 a0020	a0010c0012 a0020c0024 a0010c0012 a0020c0024	a0010c0012t0018 a0020c0024t0031 a0010c0012t0018 a0020c0024t0031	a0010c0012t0018g0001 a0020c0024t0031g0009 a0010c0012t0018g0001 a0020c0024t0031g0009	2	86	0.0233	1	c.103 others(5): Show c.1030dupG	p.Ala others(5): Show p.Ala344fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1312/2238	1031/1200	344/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153074094	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18977.hp1 NA18977.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0015 a0015c0017t0015	a0015c0017t0015g0001 a0015c0017t0015g0001	1	86	0.0116	1	c.103 others(5): Show c.1034dupG	p.Ala others(5): Show p.Ala346fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1316/2238	1035/1200	345/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153074136	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA19056.hp1 NA19056.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0008 a0014c0018t0008	a0014c0018t0008g0001 a0014c0018t0008g0001	1	86	0.0116	-1	c.107 others(5): Show c.1077delA	p.Val others(5): Show p.Val360fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1358/2238	1077/1200	359/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153074147	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(8): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG02129.hp1 HG02622.hp2 HG02647.hp1 HG03492.hp1 NA19060.hp2	a0004 a0005 a0013 others(3): Show a0004 a0005 a0013 a0017 a0018 a0019	a0004c0004 a0005c0016 a0005c0020 others(4): Show a0004c0004 a0005c0016 a0005c0020 a0013c0019 a0017c0013 a0018c0022 a0019c0023	a0004c0004t0001 a0004c0004t0003 a0004c0004t0007 others(7): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0007 a0004c0004t0023 a0005c0016t0004 a0005c0020t0002 a0013c0019t0002 a0017c0013t0011 a0018c0022t0010 a0019c0023t0027	a0004c0004t0001g0001 a0004c0004t0003g0001 a0004c0004t0007g0001 others(7): Show a0004c0004t0001g0001 a0004c0004t0003g0001 a0004c0004t0007g0001 a0004c0004t0023g0001 a0005c0016t0004g0002 a0005c0020t0002g0001 a0013c0019t0002g0001 a0017c0013t0011g0013 a0018c0022t0010g0008 a0019c0023t0027g0014	11	86	0.1279	1	c.108 others(5): Show c.1087dupG	p.Val others(5): Show p.Val363fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1369/2238	1088/1200	363/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153074147	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0030 a0011c0021t0030	a0011c0021t0030g0001 a0011c0021t0030g0001	1	86	0.0116	1	c.108 others(10): Show c.1085_1086insT	p.Val others(5): Show p.Val363fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1367/2238	1086/1200	362/399		chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153074150	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18977.hp1 NA18977.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0015 a0015c0017t0015	a0015c0017t0015g0001 a0015c0017t0015g0001	1	86	0.0116	-1	c.109 others(5): Show c.1091delC	p.Pro others(5): Show p.Pro364fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1372/2238	1091/1200	364/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153074186	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG02896.hp1 HG02896.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0018 a0010c0012t0018	a0010c0012t0018g0001 a0010c0012t0018g0001	1	86	0.0116	-1	c.112 others(5): Show c.1126delC	p.Gln others(5): Show p.Gln376fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1407/2238	1126/1200	376/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153074216	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0030 a0011c0021t0030	a0011c0021t0030g0001 a0011c0021t0030g0001	1	86	0.0116	1	c.115 others(5): Show c.1156dupC	p.Leu others(5): Show p.Leu386fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1438/2238	1157/1200	386/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153074225	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG02896.hp1 HG02896.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0018 a0010c0012t0018	a0010c0012t0018g0001 a0010c0012t0018g0001	1	86	0.0116	-1	c.116 others(5): Show c.1167delG	p.Leu others(5): Show p.Leu390fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1448/2238	1167/1200	389/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153074229	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18988.hp1 NA18988.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0030 a0011c0021t0030	a0011c0021t0030g0001 a0011c0021t0030g0001	1	86	0.0116	1	c.116 others(5): Show c.1168dupC	p.Leu others(5): Show p.Leu390fs	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	2/2	1450/2238	1169/1200	390/399	INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153396912	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.193 others(5): Show c.1937dupG	p.Lys others(5): Show p.Lys647fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	2115/3389	1937/1944	646/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153396916	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18994.hp1 NA18994.hp1	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0021 a0016c0020t0021	a0016c0020t0021g0139 a0016c0020t0021g0139	1	346	0.0029	-1	c.193 others(5): Show c.1933delC	p.Gln others(5): Show p.Gln645fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	2111/3389	1933/1944	645/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397005	GGGTTTCC others(4): Show GGGTTTCCTGGC	G G	frameshift_variant frameshift_variant	HIGH	NA18994.hp1 NA18994.hp1	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0021 a0016c0020t0021	a0016c0020t0021g0139 a0016c0020t0021g0139	1	346	0.0029	-11	c.183 others(20): Show c.1834_1844delGCCAGGAAACC	p.Ala others(5): Show p.Ala612fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	2022/3389	1834/1944	612/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397047	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.180 others(5): Show c.1802dupC	p.Glu others(5): Show p.Glu602fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1980/3389	1802/1944	601/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397099	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.175 others(10): Show c.1750_1751insA	p.Ala others(5): Show p.Ala584fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1928/3389	1750/1944	584/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397134	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.171 others(10): Show c.1715_1716insT	p.Arg others(5): Show p.Arg573fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1893/3389	1715/1944	572/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397251	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.159 others(5): Show c.1598dupG	p.Pro others(5): Show p.Pro534fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1776/3389	1598/1944	533/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397295	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.155 others(5): Show c.1554dupT	p.Ala others(5): Show p.Ala519fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1732/3389	1554/1944	518/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397471	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18994.hp1 NA18994.hp1	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0021 a0016c0020t0021	a0016c0020t0021g0139 a0016c0020t0021g0139	1	346	0.0029	1	c.137 others(5): Show c.1378dupC	p.Arg others(5): Show p.Arg460fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1556/3389	1378/1944	460/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397474	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0042 a0015c0026t0042	a0015c0026t0042g0103 a0015c0026t0042g0103	1	346	0.0029	1	c.137 others(5): Show c.1375dupG	p.Ala others(5): Show p.Ala459fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1553/3389	1375/1944	459/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397522	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.132 others(5): Show c.1327dupT	p.Cys others(5): Show p.Cys443fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1505/3389	1327/1944	443/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397528	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19090.hp2 NA19090.hp2	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0002 a0017c0021t0002	a0017c0021t0002g0134 a0017c0021t0002g0134	1	346	0.0029	1	c.132 others(5): Show c.1321dupG	p.Ala others(5): Show p.Ala441fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1499/3389	1321/1944	441/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397586	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18979.hp2 NA18979.hp2	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0089 a0012c0027t0001g0089	1	346	0.0029	1	c.126 others(5): Show c.1263dupG	p.Leu others(5): Show p.Leu422fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1441/3389	1263/1944	421/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397898	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.951 others(4): Show c.951dupC	p.Tyr others(5): Show p.Tyr318fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1129/3389	951/1944	317/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397956	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.893 others(4): Show c.893dupC	p.Ala others(5): Show p.Ala300fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1071/3389	893/1944	298/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397971	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.878 others(4): Show c.878dupG	p.Gly others(5): Show p.Gly294fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1056/3389	878/1944	293/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153397993	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.856 others(4): Show c.856dupG	p.Ala others(5): Show p.Ala286fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	1034/3389	856/1944	286/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153398119	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.730 others(4): Show c.730dupG	p.Ala others(5): Show p.Ala244fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	908/3389	730/1944	244/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153398171	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.678 others(4): Show c.678dupA	p.Gly others(5): Show p.Gly227fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	856/3389	678/1944	226/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153398249	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0024 a0024	a0024c0015 a0024c0015	a0024c0015t0043 a0024c0015t0043	a0024c0015t0043g0115 a0024c0015t0043g0115	1	346	0.0029	1	c.600 others(4): Show c.600dupT	p.Glu others(5): Show p.Glu201fs	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	778/3389	600/1944	200/647		chrX	TogoVar

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