Joint Open Genome and Omics Platform (JoGo)

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
OTUD5_chrX_48917024_48962607	48934485	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19001.hp2 NA19001.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0160 a0003c0005t0003g0160	1	266	0.0038	-1	c.103 others(5): Show c.1037delG	p.Gly others(5): Show p.Gly346fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	5/9	1074/2888	1037/1701	346/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48934793	G G	GT GT	frameshift_variant frameshift_variant	HIGH	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0115 a0002c0004t0001g0115	1	266	0.0038	1	c.827 others(4): Show c.827dupA	p.Asn others(5): Show p.Asn276fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	4/9	864/2888	827/1701	276/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957173	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0232 a0006c0009t0001g0232	1	266	0.0038	1	c.397 others(4): Show c.397dupG	p.Val others(5): Show p.Val133fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	434/2888	397/1701	133/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957178	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0232 a0006c0009t0001g0232	1	266	0.0038	1	c.392 others(4): Show c.392dupT	p.Val others(5): Show p.Val133fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	429/2888	392/1701	131/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957247	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0232 a0006c0009t0001g0232	1	266	0.0038	1	c.323 others(4): Show c.323dupG	p.Pro others(5): Show p.Pro109fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	360/2888	323/1701	108/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957256	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0001 a0007c0003t0001	a0007c0003t0001g0022 a0007c0003t0001g0022	1	266	0.0038	1	c.314 others(4): Show c.314dupG	p.Gly others(5): Show p.Gly107fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	351/2888	314/1701	105/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957290	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0232 a0006c0009t0001g0232	1	266	0.0038	1	c.280 others(4): Show c.280dupC	p.Arg others(4): Show p.Arg94fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	317/2888	280/1701	94/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957445	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0001 a0007c0003t0001	a0007c0003t0001g0022 a0007c0003t0001g0022	1	266	0.0038	1	c.125 others(4): Show c.125dupG	p.Thr others(4): Show p.Thr43fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	162/2888	125/1701	42/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957465	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0001 a0007c0003t0001	a0007c0003t0001g0022 a0007c0003t0001g0022	1	266	0.0038	1	c.105 others(4): Show c.105dupT	p.Val others(4): Show p.Val36fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	142/2888	105/1701	35/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957481	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0232 a0006c0009t0001g0232	1	266	0.0038	1	c.89d others(3): Show c.89dupC	p.Arg others(4): Show p.Arg31fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	126/2888	89/1701	30/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957487	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0001 a0007c0003t0001	a0007c0003t0001g0022 a0007c0003t0001g0022	1	266	0.0038	1	c.83d others(3): Show c.83dupC	p.Ala others(4): Show p.Ala29fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	120/2888	83/1701	28/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957522	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0232 a0006c0009t0001g0232	1	266	0.0038	1	c.48d others(3): Show c.48dupC	p.Ala others(4): Show p.Ala17fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	85/2888	48/1701	16/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957522	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0001 a0007c0003t0001	a0007c0003t0001g0022 a0007c0003t0001g0022	1	266	0.0038	-1	c.48d others(3): Show c.48delC	p.Ala others(4): Show p.Ala17fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	85/2888	48/1701	16/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957534	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0232 a0006c0009t0001g0232	1	266	0.0038	-1	c.36d others(3): Show c.36delC	p.Asp others(4): Show p.Asp13fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	73/2888	36/1701	12/566		chrX	TogoVar
OTUD5_chrX_48917024_48962607	48957538	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0001 a0007c0003t0001	a0007c0003t0001g0022 a0007c0003t0001g0022	1	266	0.0038	1	c.32d others(3): Show c.32dupC	p.Pro others(4): Show p.Pro12fs	OTUD5	ENSG00000068308.15	transcript	ENST00000376488.8	protein_coding	1/9	69/2888	32/1701	11/566		chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062542	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	1	c.19d others(3): Show c.19dupG	p.Glu others(3): Show p.Glu7fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	88/1723	20/867	7/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062562	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	1	c.40d others(3): Show c.40dupC	p.Arg others(4): Show p.Arg14fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	109/1723	41/867	14/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062587	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	1	c.64d others(3): Show c.64dupC	p.Leu others(4): Show p.Leu22fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	133/1723	65/867	22/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062603	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0000 a0004c0005t0005g0000	1	336	0.0030	-1	c.81d others(3): Show c.81delG	p.Ser others(4): Show p.Ser28fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	149/1723	81/867	27/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062607	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	1	c.84d others(3): Show c.84dupC	p.Asn others(4): Show p.Asn31fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	153/1723	85/867	29/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062628	A A	ACC ACC	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0000 a0004c0005t0005g0000	1	336	0.0030	2	c.104 others(9): Show c.104_105insCC	p.Lys others(4): Show p.Lys35fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	173/1723	105/867	35/288		chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062725	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	1	c.202 others(4): Show c.202dupG	p.Asp others(4): Show p.Asp68fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	271/1723	203/867	68/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062762	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0013 a0008c0006t0013	a0008c0006t0013g0000 a0008c0006t0013g0000	1	336	0.0030	-1	c.240 others(4): Show c.240delC	p.Lys others(4): Show p.Lys81fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	308/1723	240/867	80/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062764	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0000 a0004c0005t0005g0000	1	336	0.0030	-1	c.242 others(4): Show c.242delA	p.Lys others(4): Show p.Lys81fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	310/1723	242/867	81/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062775	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	1	c.253 others(4): Show c.253dupG	p.Glu others(4): Show p.Glu85fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	322/1723	254/867	85/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062777	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0013 a0008c0006t0013	a0008c0006t0013g0000 a0008c0006t0013g0000	1	336	0.0030	1	c.257 others(4): Show c.257dupA	p.Asn others(4): Show p.Asn86fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	326/1723	258/867	86/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062783	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0000 a0004c0005t0005g0000	1	336	0.0030	-1	c.261 others(4): Show c.261delG	p.Pro others(4): Show p.Pro88fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	329/1723	261/867	87/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062788	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0013 a0008c0006t0013	a0008c0006t0013g0000 a0008c0006t0013g0000	1	336	0.0030	-1	c.268 others(4): Show c.268delC	p.Arg others(4): Show p.Arg90fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	336/1723	268/867	90/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062800	CA CA	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	-1	c.279 others(4): Show c.279delA	p.Ala others(4): Show p.Ala94fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	347/1723	279/867	93/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062804	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0000 a0004c0005t0005g0000	1	336	0.0030	-1	c.283 others(4): Show c.283delC	p.His others(4): Show p.His95fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	351/1723	283/867	95/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062847	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0013 a0008c0006t0013	a0008c0006t0013g0000 a0008c0006t0013g0000	1	336	0.0030	1	c.325 others(4): Show c.325dupC	p.Gln others(5): Show p.Gln109fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	394/1723	326/867	109/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062931	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0013 a0008c0006t0013	a0008c0006t0013g0000 a0008c0006t0013g0000	1	336	0.0030	-1	c.410 others(4): Show c.410delG	p.Gly others(5): Show p.Gly137fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	478/1723	410/867	137/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062953	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	-1	c.432 others(4): Show c.432delA	p.Ala others(5): Show p.Ala145fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	500/1723	432/867	144/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062966	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19089.hp1 NA19075.hp1 NA19089.hp1	a0008 a0009 a0008 a0009	a0008c0006 a0009c0014 a0008c0006 a0009c0014	a0008c0006t0013 a0009c0014t0004 a0008c0006t0013 a0009c0014t0004	a0008c0006t0013g0000 a0009c0014t0004g0000 a0008c0006t0013g0000 a0009c0014t0004g0000	2	336	0.0060	-1	c.444 others(4): Show c.444delC	p.Asp others(5): Show p.Asp149fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	512/1723	444/867	148/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70062978	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	1	c.454 others(8): Show c.454_455insC	p.Cys others(5): Show p.Cys152fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	523/1723	455/867	152/288		chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063043	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	1	c.520 others(4): Show c.520dupA	p.Thr others(5): Show p.Thr174fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	589/1723	521/867	174/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063044	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0000 a0004c0005t0005g0000	1	336	0.0030	-1	c.522 others(4): Show c.522delC	p.Ala others(5): Show p.Ala175fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	590/1723	522/867	174/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063078	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19063.hp1 NA19063.hp1	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0007 a0000c0008t0007	a0000c0008t0007g0000 a0000c0008t0007g0000	1	336	0.0030	1	c.556 others(4): Show c.556dupC	p.Leu others(5): Show p.Leu186fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	625/1723	557/867	186/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063117	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0013 a0008c0006t0013	a0008c0006t0013g0000 a0008c0006t0013g0000	1	336	0.0030	1	c.594 others(4): Show c.594dupC	p.Gly others(5): Show p.Gly199fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	663/1723	595/867	199/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063182	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	-1	c.659 others(4): Show c.659delT	p.Leu others(5): Show p.Leu220fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	727/1723	659/867	220/288		chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063194	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	-1	c.673 others(4): Show c.673delC	p.Leu others(5): Show p.Leu225fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	741/1723	673/867	225/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063259	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	1	c.739 others(4): Show c.739dupG	p.Glu others(5): Show p.Glu247fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	808/1723	740/867	247/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063331	C C	CAA CAA	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	2	c.808 others(9): Show c.808_809dupAA	p.Asn others(5): Show p.Asn270fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	878/1723	810/867	270/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063335	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0000 a0009c0014t0004g0000	1	336	0.0030	1	c.813 others(4): Show c.813dupC	p.Val others(5): Show p.Val272fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	882/1723	814/867	272/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063364	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18964.hp2 NA19082.hp1 NA18964.hp2 NA19082.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0001 a0000c0004t0001	a0000c0004t0001g0000 a0000c0004t0001g0000	2	336	0.0060	1	c.845 others(4): Show c.845dupG	p.Val others(5): Show p.Val283fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	914/1723	846/867	282/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063365	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0000 a0004c0005t0005g0000	1	336	0.0030	1	c.841 others(8): Show c.841_842insA	p.Gly others(5): Show p.Gly281fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	910/1723	842/867	281/288		chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063375	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0000 a0004c0005t0005g0000	1	336	0.0030	-1	c.854 others(4): Show c.854delC	p.Pro others(5): Show p.Pro285fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	922/1723	854/867	285/288	INFO_REALIGN_3_PRIME	chrX	TogoVar
OTUD6A_chrX_70057457_70069179	70063376	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19089.hp1 NA19089.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0013 a0008c0006t0013	a0008c0006t0013g0000 a0008c0006t0013g0000	1	336	0.0030	1	c.852 others(8): Show c.852_853insA	p.Pro others(5): Show p.Pro285fs	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding	1/1	921/1723	853/867	285/288		chrX	TogoVar
OVCH2_chr11_7684437_7711477	7695672	T T	TAAGAATG others(309): Show TAAGAATGGATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02622.hp1 HG02922.hp1 HG02965.hp2 others(3): Show HG02622.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp2 NA20300.hp1	a0010 a0010	a0010c0014 a0010c0039 a0010c0040 a0010c0014 a0010c0039 a0010c0040	a0010c0014t0002 a0010c0039t0001 a0010c0040t0004 a0010c0014t0002 a0010c0039t0001 a0010c0040t0004	a0010c0014t0002g0042 a0010c0014t0002g0245 a0010c0014t0002g0247 others(2): Show a0010c0014t0002g0042 a0010c0014t0002g0245 a0010c0014t0002g0247 a0010c0039t0001g0246 a0010c0040t0004g0236	6	476	0.0126	316	c.117 others(325): Show c.1179_1180insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTCATCCATTCTT	p.Ile others(5): Show p.Ile394fs	OVCH2	ENSG00000183378.13	transcript	ENST00000533663.6	protein_coding	11/16	1262/1978	1179/1698	393/565		chr11	TogoVar
OVCH2_chr11_7684437_7711477	7695672	T T	TAAGAATG others(309): Show TAAGAATGGATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01243.hp2 HG02109.hp2 HG02145.hp2 others(5): Show HG01243.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02818.hp2 HG02965.hp1 HG03195.hp1 NA19043.hp1	a0008 a0008	a0008c0009 a0008c0038 a0008c0009 a0008c0038	a0008c0009t0002 a0008c0009t0004 a0008c0038t0004 a0008c0009t0002 a0008c0009t0004 a0008c0038t0004	a0008c0009t0002g0232 a0008c0009t0002g0250 a0008c0009t0004g0021 others(3): Show a0008c0009t0002g0232 a0008c0009t0002g0250 a0008c0009t0004g0021 a0008c0009t0004g0231 a0008c0009t0004g0251 a0008c0038t0004g0248	8	476	0.0168	316	c.117 others(325): Show c.1179_1180insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTCATCCATTCTT	p.Ile others(5): Show p.Ile394fs	OVCH2	ENSG00000183378.13	transcript	ENST00000533663.6	protein_coding	11/16	1262/1978	1179/1698	393/565		chr11	TogoVar

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