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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CYP4X1_chr1_47018669_47055751	47036370	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00642.hp1 others(14): Show HG00280.hp1 HG00408.hp2 HG00642.hp1 HG01169.hp2 HG01515.hp1 HG01517.hp2 HG02132.hp1 HG02602.hp1 HG02922.hp1 HG03098.hp2 HG03831.hp1 HG03831.hp2 NA18956.hp1 NA18956.hp2 NA18982.hp2 NA19000.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0047 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0101 a0001c0001t0001g0112	17	350	0.0486	32	c.775 others(47): Show c.775+215_775+216insTATATATATATATATATATATATATATATA TA	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4Z1_chr1_47062231_47123318	47076844	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	318	0.0031	32	c.320 others(49): Show c.320-3761_320-3760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CYP4Z1	ENSG00000186160.5	transcript	ENST00000334194.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP7B1_chr8_64585851_64803737	64643190	T T	TACATATA others(25): Show TACATATATACATATATATACATATATATACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp2 HG01516.hp2 others(39): Show HG00323.hp2 HG01123.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG01993.hp1 HG02056.hp1 HG02074.hp2 HG02683.hp2 HG02738.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18941.hp1 NA18945.hp1 NA18948.hp1 NA18955.hp1 NA18957.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18988.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19006.hp2 NA19010.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19076.hp2 NA19079.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0034 a0001c0001t0063	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(38): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0040 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0144 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0219 a0001c0001t0003g0225 a0001c0001t0018g0025 a0001c0001t0018g0059 a0001c0001t0018g0062 a0001c0001t0018g0121 a0001c0001t0021g0042 a0001c0001t0021g0051 a0001c0001t0021g0054 a0001c0001t0024g0031 a0001c0001t0024g0038 a0001c0001t0034g0174 a0001c0001t0063g0050	42	258	0.1628	32	c.123 others(51): Show c.123-18652_123-18651insGTGTATATATATGTATATATATGTAT ATATGT	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(25): Show TTATATATATATATATATATATAGATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	288	0.0035	32	c.-13 others(53): Show c.-136-25781_-136-25780insTATATATATCTATATATATATATA TATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01192.hp2 others(4): Show HG01167.hp2 HG01169.hp1 HG01192.hp2 HG06807.hp2 NA18966.hp2 NA18994.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 others(4): Show a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0193 a0001c0001t0001g0261	7	288	0.0243	32	c.-13 others(53): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG02300.hp2 others(3): Show HG00733.hp1 HG01074.hp1 HG02300.hp2 NA18970.hp2 NA19054.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0039 a0001c0001t0002g0127 a0001c0001t0002g0242 others(3): Show a0001c0001t0002g0039 a0001c0001t0002g0127 a0001c0001t0002g0242 a0001c0001t0002g0246 a0001c0001t0002g0265 a0001c0001t0013g0286	6	288	0.0208	32	c.-13 others(53): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATAAA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYSLTR1_chrX_78266468_78332611	78269060	A A	AATATATA others(25): Show AATATATAATATATATTATATATATTATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0049 a0002c0003t0002g0049	1	240	0.0042	32	c.36 others(43): Show c.3672_*3673insATTATATAATATATATAATATATATTATATAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2407		chrX	TogoVar
CYSTM1_chr5_140170188_140248789	140226586	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	324	0.0031	32	c.188 others(51): Show c.188-16693_188-16692insTATATATATATATATATATATATATA TATATA	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYTH1_chr17_78669048_78787273	78690393	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0371 a0001c0001t0003g0371	1	378	0.0027	32	c.891 others(49): Show c.891+1992_891+2023dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	11/13			chr17	TogoVar
CYTH2_chr19_48464369_48487314	48471166	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0041 a0001c0001t0008g0041	1	366	0.0027	32	c.234 others(47): Show c.234+511_234+512insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAAM1_chr14_59183667_59376403	59288832	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0015 a0001c0003t0018g0015	1	298	0.0034	32	c.184 others(49): Show c.184-2356_184-2355insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM1_chr14_59183667_59376403	59289767	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01496.hp1 HG02647.hp2 others(2): Show HG00609.hp1 HG01496.hp1 HG02647.hp2 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0003t0030 others(1): Show a0001c0001t0005 a0001c0003t0005 a0001c0003t0030 a0001c0003t0065	a0001c0001t0005g0176 a0001c0003t0005g0033 a0001c0003t0030g0019 others(2): Show a0001c0001t0005g0176 a0001c0003t0005g0033 a0001c0003t0030g0019 a0001c0003t0030g0037 a0001c0003t0065g0248	5	298	0.0168	32	c.184 others(49): Show c.184-1433_184-1432insTATATATATATATATATATATATATATA TATA	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM1_chr14_59183667_59376403	59289769	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02683.hp2 HG02970.hp2 HG01175.hp1 HG02683.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0025 a0001c0003t0005g0032 a0001c0003t0005g0034 a0001c0003t0001g0025 a0001c0003t0005g0032 a0001c0003t0005g0034	3	298	0.0101	32	c.184 others(49): Show c.184-1433_184-1432insTATATATATATATATACATATATATATA TATA	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAB1_chr1_56989778_57429060	57426859	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	138	0.0073	32	c.-30 others(43): Show c.-3067_-3066insATATATATATATATATATATATATATATATAT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding		2800		chr1	TogoVar
DACH1_chr13_71432966_71872204	71519883	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0098 a0005c0008t0001g0098	1	102	0.0098	32	c.157 others(53): Show c.1571-30736_1571-30735insTATATATATATATATATATATATA TATATATA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71735094	C C	CATATATG others(25): Show CATATATGGGATACACGTATATGGGTTATACAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02622.hp1 others(7): Show HG02109.hp1 HG02257.hp2 HG02622.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 NA18522.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0005t0002 a0002c0002t0004 a0002c0007t0002	a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0003g0026 others(7): Show a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0004g0018 a0001c0001t0004g0047 a0001c0005t0002g0041 a0002c0002t0004g0077 a0002c0007t0002g0067 a0002c0007t0002g0087	10	102	0.0980	32	c.849 others(51): Show c.849-53216_849-53185dupATGTATAACCCATATACGTGTATCCC ATATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71735094	C C	CATATATG others(25): Show CATATATGGGATATACGTATATGGGTTATACAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0015	1	102	0.0098	32	c.849 others(51): Show c.849-53185_849-53184insATGTATAACCCATATACGTATATCCC ATATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71735127	A A	ATATATGG others(25): Show ATATATGGGATACACGTATATGGGTTATACATG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	102	0.0098	32	c.849 others(51): Show c.849-53218_849-53217insCATGTATAACCCATATACGTGTATCC CATATA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86254807	T T	TATATATA others(25): Show TATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	166	0.0060	32	c.488 others(53): Show c.488+105700_488+105701insTATATATATATATAGAGAGAGAGA GAGAGAGA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86254807	T T	TATATATA others(25): Show TATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	166	0.0060	32	c.488 others(53): Show c.488+105700_488+105701insTATATATATATATATATATATATA GAGAGAGA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86411020	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG01069.hp1 others(4): Show HG00621.hp1 HG00642.hp1 HG01069.hp1 HG02129.hp1 HG04204.hp1 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0001g0068 a0001c0001t0001g0074 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0143 a0001c0001t0002g0060 a0001c0001t0002g0104	7	166	0.0422	32	c.527 others(51): Show c.527+34177_527+34178insATATATATATATATATATATATATAT ATATAT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86533037	T T	TTTTATTT others(25): Show TTTTATTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	166	0.0060	32	c.640 others(51): Show c.640+18665_640+18666insATTTATTTATTTATTTATTTATTTAT TTATTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86599466	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	166	0.0060	32	c.641 others(51): Show c.641-51549_641-51518dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86707912	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	166	0.0060	32	c.932 others(49): Show c.932-6618_932-6617insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT1_chr14_58632962_58653321	58652840	T T	TCCCTCTC others(25): Show TCCCTCTCTCCTTCCTCCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	388	0.0026	32	c.57 others(43): Show c.5706_*5707insCCCTCTCTCCTTCCTCCCTCCCTCCCTCCCTC	DACT1	ENSG00000165617.16	transcript	ENST00000395153.8	protein_coding		4520		chr14	TogoVar
DACT1_chr14_58632962_58653321	58652844	T T	TCCCTCTC others(25): Show TCCCTCTCTCCTTCCTCCCTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02896.hp2 HG03041.hp2 others(1): Show HG02280.hp1 HG02896.hp2 HG03041.hp2 NA20805.hp2	a0005 a0005	a0005c0005 a0005c0018 a0005c0005 a0005c0018	a0005c0005t0001 a0005c0018t0001 a0005c0005t0001 a0005c0018t0001	a0005c0005t0001g0005 a0005c0005t0001g0034 a0005c0018t0001g0005 a0005c0005t0001g0005 a0005c0005t0001g0034 a0005c0018t0001g0005	4	388	0.0103	32	c.57 others(43): Show c.5710_*5711insCCCTCTCTCCTTCCTCCCTCCCTCCCTCCCTC	DACT1	ENSG00000165617.16	transcript	ENST00000395153.8	protein_coding		4524		chr14	TogoVar
DACT2_chr6_168301904_168324777	168311551	T T	TACACACA others(25): Show TACACACACACACAAACACACACACCCATACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0012 a0012	a0012c0041 a0012c0041	a0012c0041t0004 a0012c0041t0004	a0012c0041t0004g0191 a0012c0041t0004g0191	1	476	0.0021	32	c.247 others(47): Show c.247-268_247-267insGTGTATGGGTGTGTGTGTTTGTGTGTGTGT GT	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DACT2_chr6_168301904_168324777	168311596	A A	ACTCACAC others(25): Show ACTCACACCCATACACACACACTCACACCCATC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19055.hp1 NA18946.hp2 NA19055.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0026 a0001c0001 a0019c0026	a0001c0001t0001 a0019c0026t0001 a0001c0001t0001 a0019c0026t0001	a0001c0001t0001g0217 a0019c0026t0001g0216 a0001c0001t0001g0217 a0019c0026t0001g0216	2	476	0.0042	32	c.247 others(47): Show c.247-313_247-312insGATGGGTGTGAGTGTGTGTGTATGGGTGTG AG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DACT2_chr6_168301904_168324777	168317504	C C	CTGAGGTC others(25): Show CTGAGGTCACGCAGAAGCTGCGATTGTGTCTGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03098.hp2 HG01192.hp1 HG03098.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0041 a0001c0001 a0012c0041	a0001c0001t0002 a0012c0041t0004 a0001c0001t0002 a0012c0041t0004	a0001c0001t0002g0117 a0012c0041t0004g0191 a0001c0001t0002g0117 a0012c0041t0004g0191	2	476	0.0042	32	c.246 others(49): Show c.246+1883_246+1884insCCAGACACAATCGCAGCTTCTGCGTGAC CTCA	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(25): Show TCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG02486.hp2 HG00735.hp1 HG01192.hp1 HG02486.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0001c0001t0008 a0006c0011t0001 a0001c0001t0001 a0001c0001t0008 a0006c0011t0001	a0001c0001t0001g0342 a0001c0001t0008g0196 a0006c0011t0001g0201 a0001c0001t0001g0342 a0001c0001t0008g0196 a0006c0011t0001g0201	3	380	0.0079	32	c.121 others(49): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAGLB_chr7_6404129_6452954	6430250	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02451.hp1 NA18979.hp1 HG02132.hp1 HG02451.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0098 a0001c0002t0002g0154 a0001c0002t0002g0090 a0001c0002t0002g0098 a0001c0002t0002g0154	3	380	0.0079	32	c.929 others(47): Show c.929+198_929+229dupATATATATATATATATATATATATATATAT AT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	6/14			chr7	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	412	0.0024	32	c.26 others(43): Show c.2622_*2623insTCTCTCTCTCTCTCTATATATATATATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	412	0.0024	32	c.26 others(43): Show c.2622_*2623insTCTCTCTCTCTCTCTCTATATATATATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAO_chr12_108875092_108906043	108903287	G G	GAGAAAGG others(25): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(33): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00741.hp1 HG01070.hp1 HG01175.hp1 HG01515.hp2 HG01516.hp1 HG02523.hp1 HG02717.hp2 HG02738.hp2 HG02965.hp2 HG03195.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG04199.hp1 NA18612.hp1 NA18949.hp1 NA18954.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA19006.hp2 NA19065.hp1 NA19066.hp2 NA19077.hp2 NA19084.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0009 a0001c0001t0002 a0001c0002t0001 a0001c0002t0009	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 others(32): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0032 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0122 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0141 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0220 a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0298 a0001c0002t0001g0035 a0001c0002t0001g0119 a0001c0002t0001g0281 a0001c0002t0001g0292 a0001c0002t0009g0226	36	388	0.0928	32	c.27 others(43): Show c.2752_*2753insAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2245		chr12	TogoVar
DAO_chr12_108875092_108906043	108903287	G G	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG02970.hp1 others(1): Show HG02055.hp2 HG02723.hp1 HG02970.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0211 a0001c0001t0001g0212 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0309	4	388	0.0103	32	c.27 others(43): Show c.2752_*2753insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2245		chr12	TogoVar
DAPK1_chr9_87492867_87713634	87571473	A A	ACACACAC others(25): Show ACACACACCCCAACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0071 a0001c0004t0001g0071	1	236	0.0042	32	c.63- others(49): Show c.63-33480_63-33479insACACACCCCAACACACACACACACACAC ACCC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571473	A A	ACCCCAAC others(25): Show ACCCCAACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG03704.hp1 others(1): Show HG01243.hp2 HG01496.hp2 HG03704.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0005t0001	a0001c0001t0001g0137 a0001c0002t0001g0017 a0001c0002t0004g0075 others(1): Show a0001c0001t0001g0137 a0001c0002t0001g0017 a0001c0002t0004g0075 a0001c0005t0001g0131	4	236	0.0170	32	c.63- others(49): Show c.63-33479_63-33478insCCAACACACACACACACACACACACACA CCCC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571497	C C	CCCAACAC others(25): Show CCCAACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01496.hp1 others(7): Show HG00423.hp1 HG00642.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG02071.hp2 HG02109.hp1 HG03017.hp1 NA18960.hp2 NA19063.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0005 others(3): Show a0001c0002 a0001c0004 a0001c0005 a0001c0020 a0002c0003 a0003c0012	a0001c0002t0001 a0001c0004t0012 a0001c0005t0001 others(4): Show a0001c0002t0001 a0001c0004t0012 a0001c0005t0001 a0001c0020t0001 a0002c0003t0001 a0002c0003t0006 a0003c0012t0001	a0001c0002t0001g0013 a0001c0002t0001g0109 a0001c0002t0001g0161 others(7): Show a0001c0002t0001g0013 a0001c0002t0001g0109 a0001c0002t0001g0161 a0001c0004t0012g0179 a0001c0005t0001g0058 a0001c0020t0001g0051 a0002c0003t0001g0094 a0002c0003t0001g0169 a0002c0003t0006g0041 a0003c0012t0001g0105	10	236	0.0424	32	c.63- others(49): Show c.63-33457_63-33456insCCAACACACACACACACACACACACACA CACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK1_chr9_87492867_87713634	87615802	T T	TGTGCCCC others(25): Show TGTGCCCCCTCTGTCCACATATAGGTCACAGGA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	236	0.0042	32	c.284 others(51): Show c.284+10629_284+10660dupTGCCCCCTCTGTCCACATATAGGTCA CAGGAG	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK2_chr15_63902036_64051485	64033287	G G	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02602.hp1 HG02622.hp1 others(3): Show HG02258.hp1 HG02602.hp1 HG02622.hp1 HG03654.hp2 NA19060.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0002t0010 a0001c0001t0001 a0001c0001t0013 a0001c0002t0010	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0013g0096 a0001c0002t0010g0085	6	214	0.0280	32	c.92+ others(47): Show c.92+6851_92+6882dupTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CC	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK3_chr19_3953453_3976099	3953645	G G	GGGGGGGG others(25): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	32	c.54 others(43): Show c.5455_*5456insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4807		chr19	TogoVar
DAP_chr5_10674230_10766234	10722565	T T	TATACATA others(25): Show TATACATATATACATATACATGCATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03654.hp1 HG02055.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0149 a0001c0001t0010g0193 a0001c0001t0001g0149 a0001c0001t0010g0193	2	372	0.0054	32	c.152 others(51): Show c.152+25609_152+25610insGTATATATATGCATGTATATGTATAT ATGTAT	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	2/3			chr5	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03486.hp1 HG02280.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0095 a0001c0001t0001g0024 a0001c0001t0001g0095	2	446	0.0045	32	c.-43 others(43): Show c.-4392_-4391insTATATATATATACACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	446	0.0022	32	c.-43 others(43): Show c.-4392_-4391insTATATATACACACACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	446	0.0022	32	c.-43 others(43): Show c.-4392_-4391insTATATACACACACACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	446	0.0022	32	c.-43 others(43): Show c.-4392_-4391insTATACACACACACACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DBF4B_chr17_44703665_44757264	44722235	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0274 a0005c0009t0005g0274	1	288	0.0035	32	c.83- others(45): Show c.83-631_83-630insACACACACACACACACACACACACACACACAC	DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF10_chr9_37795797_37872664	37808473	T T	TATATATT others(25): Show TATATATTTATATAATATATAAATATATAAAAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	356	0.0028	32	c.539 others(49): Show c.539+7088_539+7119dupAAATATATAAAACATATATTTATATAAT ATAT	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF5_chr14_69045881_69158119	69105914	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18972.hp2 HG04204.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0011 a0001c0001t0003g0049 a0001c0001t0002g0011 a0001c0001t0003g0049	2	244	0.0082	32	c.665 others(51): Show c.665+10420_665+10451dupATATATATATATATATATATATATAT ATATAT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCAF8L2_chrX_27585344_27754942	27590991	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03669.hp1 NA19005.hp1 HG00597.hp2 HG03669.hp1 NA19005.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0251 a0003c0003t0001g0249 a0003c0003t0001g0250 a0001c0001t0001g0251 a0003c0003t0001g0249 a0003c0003t0001g0250	3	262	0.0115	32	c.-34 others(49): Show c.-342+575_-342+576insTATATATATATATATATATATATATATA TATA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar

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