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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CYP4F22_chr19_15503525_15557317	15547018	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0231	1	384	0.0026	25	c.113 others(44): Show c.1137-1068_1137-1067insTTTTTTTTTTTTTTTTTTTTTTTTT	CYP4F22	ENSG00000171954.13	transcript	ENST00000269703.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15656524	T T	TCTATCTA others(18): Show TCTATCTATGTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp2 HG02040.hp1 others(1): Show HG01243.hp1 HG01361.hp2 HG02040.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0005 a0001c0010t0021 a0001c0004t0005 a0001c0010t0021	a0001c0004t0005g0070 a0001c0004t0005g0079 a0001c0010t0021g0149 others(1): Show a0001c0004t0005g0070 a0001c0004t0005g0079 a0001c0010t0021g0149 a0001c0010t0021g0150	4	424	0.0094	25	c.111 others(44): Show c.1116-1740_1116-1739insCTATCTATGTATCTATCTATCTATC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	9/12			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15656524	T T	TCTATGTA others(18): Show TCTATGTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp2 others(11): Show HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG02630.hp1 HG03130.hp2 HG03490.hp1 HG03492.hp1 HG03927.hp2 NA19070.hp1 NA20129.hp2 NA21309.hp1	a0001 a0012 a0001 a0012	a0001c0004 a0001c0005 a0012c0017 a0001c0004 a0001c0005 a0012c0017	a0001c0004t0074 a0001c0004t0075 a0001c0005t0004 others(2): Show a0001c0004t0074 a0001c0004t0075 a0001c0005t0004 a0001c0005t0032 a0012c0017t0034	a0001c0004t0074g0040 a0001c0004t0075g0038 a0001c0005t0004g0002 others(9): Show a0001c0004t0074g0040 a0001c0004t0075g0038 a0001c0005t0004g0002 a0001c0005t0004g0003 a0001c0005t0004g0020 a0001c0005t0004g0022 a0001c0005t0004g0024 a0001c0005t0004g0029 a0001c0005t0004g0034 a0001c0005t0004g0037 a0001c0005t0032g0018 a0012c0017t0034g0043	14	424	0.0330	25	c.111 others(44): Show c.1116-1740_1116-1739insCTATGTATCTATCTATCTATCTATC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	9/12			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15667541	A A	ATATCTAT others(18): Show ATATCTATATCTATATCTATATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0075 a0001c0004t0075	a0001c0004t0075g0038 a0001c0004t0075g0038	1	424	0.0024	25	c.81 others(36): Show c.8156_*8157insTATCTATATCTATATCTATATCTAT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding		4717		chr19	TogoVar
CYP4X1_chr1_47018669_47055751	47036368	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	350	0.0029	25	c.775 others(40): Show c.775+197_775+198insATATATATATATATATATATATATA	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11			chr1	TogoVar
CYP4X1_chr1_47018669_47055751	47036370	T T	TTTATATA others(18): Show TTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	350	0.0029	25	c.775 others(40): Show c.775+200_775+201insTATATATATATATATATATATATAT	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(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01175.hp1 HG01261.hp1 others(22): Show HG00558.hp2 HG01175.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01978.hp1 HG02040.hp2 HG02132.hp1 HG02257.hp1 HG02300.hp1 HG02698.hp2 HG03669.hp2 HG03927.hp1 HG04115.hp1 HG04228.hp1 NA18942.hp2 NA18967.hp2 NA18975.hp1 NA18985.hp1 NA18988.hp1 NA18991.hp2 NA18992.hp1 NA19003.hp1 NA19004.hp2 NA19011.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0010 a0007c0006 a0001c0001 a0001c0010 a0007c0006	a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 a0007c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(17): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0231 a0001c0001t0003g0012 a0001c0010t0001g0142 a0007c0006t0001g0153	25	318	0.0786	25	c.320 others(42): Show c.320-3761_320-3760insAAAAAAAAAAAAAAAAAAAAAAAAA	CYP4Z1	ENSG00000186160.5	transcript	ENST00000334194.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP7B1_chr8_64585851_64803737	64771047	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	258	0.0039	25	c.122 others(44): Show c.122+27394_122+27418dupAAAAAAAAAAAAAAAAAAAAAAAAA	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930380	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0205 a0001c0001t0005g0205	1	288	0.0035	25	c.-13 others(46): Show c.-136-25796_-136-25795insTATATATATATATATATATATATA T	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYSLTR1_chrX_78266468_78332611	78269238	T T	TATATAAA others(18): Show TATATAAATTATATATTATATATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0124 a0001c0001t0005g0124	1	240	0.0042	25	c.34 others(36): Show c.3494_*3495insTAAATATATAATATATAATTTATAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2229		chrX	TogoVar
CYSLTR1_chrX_78266468_78332611	78269255	T T	TATATTTA others(18): Show TATATTTAATATAAATATATATTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0123 a0003c0007t0006g0123	1	240	0.0042	25	c.34 others(36): Show c.3477_*3478insGATAATATATATTTATATTAAATAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2212		chrX	TogoVar
CYSTM1_chr5_140170188_140248789	140226497	T T	TATATATA others(18): Show TATATATATATATTTATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 HG02723.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	2	324	0.0062	25	c.188 others(44): Show c.188-16801_188-16800insTATATTTATATATATATAATATATA	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYTH3_chr7_6156779_6277624	6259757	T T	TTATATAT others(18): Show TTATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	348	0.0029	25	c.34+ others(42): Show c.34+12716_34+12717insTTATATATATATATATATATATATA	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TATATATA others(18): Show TATATATAATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	348	0.0029	25	c.34+ others(42): Show c.34+12701_34+12702insTTATATATATATATATATTATATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
DAAM1_chr14_59183667_59376403	59327402	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0030 a0001c0003t0051g0030	1	298	0.0034	25	c.137 others(42): Show c.1372+435_1372+436insTTTTTTTTTTTTTTTTTTTTTTTTT	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAB1_chr1_56989778_57429060	57060125	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01952.hp2 HG02055.hp1 others(2): Show HG00639.hp1 HG01952.hp2 HG02055.hp1 HG02602.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 a0001c0005t0001	a0001c0001t0001g0039 a0001c0001t0001g0127 a0001c0001t0004g0036 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0127 a0001c0001t0004g0036 a0001c0001t0020g0046 a0001c0005t0001g0082	5	138	0.0362	25	c.723 others(42): Show c.723+2734_723+2758dupTAAAATAAAATAAAATAAAATAAAA	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	9/14			chr1	TogoVar
DAB1_chr1_56989778_57429060	57367043	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	138	0.0073	25	c.-13 others(46): Show c.-137+56862_-137+56886dupATTTTATTTTATTTTATTTTATTT T	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14			chr1	TogoVar
DACH1_chr13_71432966_71872204	71553080	G G	GATTAGAC others(18): Show GATTAGACATATAACCATATATGTAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	102	0.0098	25	c.157 others(44): Show c.1570+3943_1570+3944insATACATATATGGTTATATGTCTAAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71553419	C C	CCATATAT others(18): Show CCATATATGTATATTAGACATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG03490.hp1 HG01109.hp2 HG01496.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0001 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0045 a0001c0001t0005g0035 a0001c0001t0011g0033 a0001c0001t0001g0045 a0001c0001t0005g0035 a0001c0001t0011g0033	3	102	0.0294	25	c.157 others(44): Show c.1570+3604_1570+3605insTATATATGTCTAATATACATATATG	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71553444	C C	CCATATAT others(18): Show CCATATATGTATATTAGACATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp2 HG03209.hp2 others(3): Show HG01109.hp1 HG01346.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG06807.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0002 a0002c0002t0008 a0003c0003t0005	a0001c0001t0001g0054 a0001c0001t0002g0037 a0001c0001t0006g0001 others(3): Show a0001c0001t0001g0054 a0001c0001t0002g0037 a0001c0001t0006g0001 a0002c0002t0002g0068 a0002c0002t0008g0066 a0003c0003t0005g0004	6	102	0.0588	25	c.157 others(44): Show c.1570+3579_1570+3580insTATATATGTCTAATATACATATATG	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86147115	A A	AAAAAAAA others(18): Show AAAAAAAAAAGTATGTATATGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01515.hp1 HG02004.hp1 others(8): Show HG00280.hp1 HG01515.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG03516.hp1 HG03710.hp1 NA18950.hp2 NA18984.hp1 NA18986.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0164 others(8): Show a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158	11	166	0.0663	25	c.-15 others(36): Show c.-1506_-1505insAAAAAAAAAGTATGTATATGTGTGT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding		1335		chrX	TogoVar
DACH2_chrX_86143451_86837602	86429535	A A	ATTTCTTT others(18): Show ATTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	166	0.0060	25	c.527 others(44): Show c.527+52687_527+52711dupCTTTTCTTTTCTTTTCTTTTCTTTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(18): Show CTTCTTCTTCCTTCTTCTTCCTTCTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18977.hp1 NA19004.hp1 others(2): Show NA18950.hp1 NA18977.hp1 NA19004.hp1 NA19068.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0085 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0085 a0001c0001t0001g0133 a0002c0003t0001g0096	5	166	0.0301	25	c.640 others(44): Show c.640+32013_640+32014insTTCTTCTTCCTTCTTCTTCCTTCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11			chrX	TogoVar
DACH2_chrX_86143451_86837602	86593398	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03130.hp1 HG03486.hp1 HG02976.hp1 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0007 a0001c0001t0001g0110 a0001c0001t0001g0116	3	166	0.0181	25	c.641 others(44): Show c.641-57618_641-57594dupATTTTATTTTATTTTATTTTATTTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86705050	C C	CATATATA others(18): Show CATATATATATATATATCTTACATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02622.hp1 others(2): Show HG01884.hp2 HG02451.hp1 HG02622.hp1 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0107 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0126	5	166	0.0301	25	c.932 others(42): Show c.932-9480_932-9479insTACATATATATATATATATATATCT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86705063	A A	ATATATCT others(18): Show ATATATCTCACATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG02897.hp2 others(4): Show HG02572.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0024 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0165	7	166	0.0422	25	c.932 others(42): Show c.932-9482_932-9481insATCTCACATATATATATATATCTAT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86707912	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02451.hp1 HG02622.hp1 others(8): Show HG02080.hp2 HG02451.hp1 HG02622.hp1 HG03139.hp1 NA18965.hp1 NA18966.hp1 NA18982.hp1 NA18990.hp1 NA19002.hp1 NA19006.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0048 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0002g0019	11	166	0.0663	25	c.932 others(42): Show c.932-6618_932-6617insAAAAAAAAAAAAAAAAAAAAAAAAA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DAPK1_chr9_87492867_87713634	87571494	C C	CACACACA others(18): Show CACACACACACCCCAACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02630.hp2 HG01243.hp1 HG02055.hp1 HG02630.hp2	a0001 a0003 a0001 a0003	a0001c0010 a0001c0025 a0003c0012 a0001c0010 a0001c0025 a0003c0012	a0001c0010t0001 a0001c0025t0001 a0003c0012t0007 a0001c0010t0001 a0001c0025t0001 a0003c0012t0007	a0001c0010t0001g0226 a0001c0025t0001g0085 a0003c0012t0007g0043 a0001c0010t0001g0226 a0001c0025t0001g0085 a0003c0012t0007g0043	3	236	0.0127	25	c.63- others(42): Show c.63-33460_63-33459insACACACACACCCCAACACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571494	C C	CACACACA others(18): Show CACACACACCCCAACACACACACACA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0150 a0002c0003t0001g0150	1	236	0.0042	25	c.63- others(42): Show c.63-33460_63-33459insACACACACCCCAACACACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK1_chr9_87492867_87713634	87662560	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18988.hp1 NA19011.hp2 others(1): Show NA18969.hp2 NA18988.hp1 NA19011.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0016 a0001c0001 a0001c0009 a0002c0016	a0001c0001t0001 a0001c0009t0001 a0002c0016t0003 a0001c0001t0001 a0001c0009t0001 a0002c0016t0003	a0001c0001t0001g0203 a0001c0009t0001g0095 a0001c0009t0001g0205 others(1): Show a0001c0001t0001g0203 a0001c0009t0001g0095 a0001c0009t0001g0205 a0002c0016t0003g0114	4	236	0.0170	25	c.192 others(44): Show c.1923+4434_1923+4458dupTTTTTTTTTTTTTTTTTTTTTTTTT	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK2_chr15_63902036_64051485	64033286	G G	GAAGGAAG others(18): Show GAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0026 a0001c0001t0011g0028 a0001c0001t0011g0026 a0001c0001t0011g0028	2	214	0.0094	25	c.92+ others(40): Show c.92+6883_92+6884insTCCTTCCTTCCTTCCTTCCTTCCTT	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPP1_chr4_99811827_99875190	99839369	A A	ATAGATAT others(18): Show ATAGATATATATAGATATATATAGAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03927.hp1 NA18989.hp2 others(3): Show HG02155.hp2 HG03927.hp1 NA18989.hp2 NA19001.hp2 NA19011.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0068 a0001c0001t0002g0005 a0001c0001t0002g0068	6	366	0.0164	25	c.225 others(40): Show c.225-913_225-912insATATAGATATATATAGATTAGATAT	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
DAP_chr5_10674230_10766234	10761404	C C	CGGGGGCG others(18): Show CGGGGGCGGGGGCGGGGGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	372	0.0027	25	c.-33 others(34): Show c.-337_-336insCGCCCCCGCCCCCGCCCCCGCCCCC	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding		171		chr5	TogoVar
DAZAP2_chr12_51233826_51248933	51235999	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	25	c.-29 others(36): Show c.-2909_-2908insTTTTTTTTTTTTTTTTTTTTTTTTT	DAZAP2	ENSG00000183283.16	transcript	ENST00000412716.8	protein_coding		2826		chr12	TogoVar
DAZL_chr3_16581792_16610423	16609596	G G	GTGTGTGT others(18): Show GTGTGTGTGTGTGTGTGTGTGTGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0078 a0001c0001t0016g0078	1	446	0.0022	25	c.-43 others(36): Show c.-4392_-4391insATACACACACACACACACACACACA	DAZL	ENSG00000092345.14	transcript	ENST00000399444.7	protein_coding		4174		chr3	TogoVar
DBF4B_chr17_44703665_44757264	44725684	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp2 HG01256.hp1 others(5): Show HG00099.hp2 HG01243.hp2 HG01256.hp1 HG01361.hp1 HG02056.hp2 HG02647.hp2 HG03669.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 others(5): Show a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0236	8	288	0.0278	25	c.225 others(42): Show c.225+2682_225+2683insTTTTTTTTTTTTTTTTTTTTTTTTT	DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DBNDD1_chr16_89999871_90024456	90013262	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG02258.hp1 others(2): Show HG00735.hp1 HG01243.hp1 HG02258.hp1 HG04228.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0152 others(2): Show a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0152 a0001c0001t0001g0179 a0001c0001t0003g0176	5	412	0.0121	25	c.32- others(40): Show c.32-3833_32-3832insTTTTTTTTTTTTTTTTTTTTTTTTT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	1/3			chr16	TogoVar
DBNL_chr7_44039702_44074456	44043513	A A	ATATACAC others(18): Show ATATACACATATATATACTATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0113 a0001c0002t0043g0113	1	380	0.0026	25	c.-12 others(36): Show c.-1225_-1224insTATACACATATATATACTATGTGTG	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1188		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043513	A A	ATATACAC others(18): Show ATATACACATATATATACTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0020 a0001c0005t0013g0020	1	380	0.0026	25	c.-12 others(36): Show c.-1225_-1224insTATACACATATATATACTGTGTGTG	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1188		chr7	TogoVar
DCAF10_chr9_37795797_37872664	37816659	G G	GGGGGGGG others(18): Show GGGGGGGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0034 a0001c0001t0059g0034	1	356	0.0028	25	c.540 others(42): Show c.540-2628_540-2627insGGGGGGGTGTGTGTGTGTGTGTGTG	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF4_chr14_72921464_72964703	72953732	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0374 a0001c0002t0001g0374	1	396	0.0025	25	c.809 others(40): Show c.809-431_809-430insAAAAAAAAATATATATATATATATA	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF5_chr14_69045881_69158119	69105944	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02055.hp2 HG02895.hp2 others(4): Show HG01069.hp2 HG02055.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0020 a0001c0002t0001 a0001c0001t0004 a0001c0001t0020 a0001c0002t0001	a0001c0001t0004g0008 a0001c0001t0004g0184 a0001c0001t0004g0185 others(4): Show a0001c0001t0004g0008 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0020g0241 a0001c0002t0001g0150 a0001c0002t0001g0170 a0001c0002t0001g0171	7	244	0.0287	25	c.665 others(44): Show c.665+10421_665+10422insTATATATATATATATATATATATAT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCBLD2_chr3_98790941_98906695	98870727	A A	AAAGAAAA others(18): Show AAAGAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0099 a0001c0002t0004g0099	1	330	0.0030	25	c.433 others(44): Show c.433+10812_433+10813insCTTTCTTTCTTTCTTTCTTTTTCTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98870737	A A	AAAAGAAA others(18): Show AAAAGAAAGAAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01123.hp1 others(16): Show HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01261.hp1 HG01346.hp1 HG02083.hp2 HG02129.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02818.hp2 HG02895.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp2 NA18747.hp1 NA18995.hp2 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0004 a0005c0010 a0001c0002 a0002c0004 a0005c0010	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(5): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0016 a0001c0002t0018 a0001c0002t0029 a0002c0004t0002 a0005c0010t0016	a0001c0002t0002g0011 a0001c0002t0002g0024 a0001c0002t0002g0042 others(16): Show a0001c0002t0002g0011 a0001c0002t0002g0024 a0001c0002t0002g0042 a0001c0002t0002g0057 a0001c0002t0002g0068 a0001c0002t0004g0073 a0001c0002t0004g0075 a0001c0002t0004g0093 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0005g0046 a0001c0002t0005g0067 a0001c0002t0016g0086 a0001c0002t0018g0101 a0001c0002t0029g0066 a0002c0004t0002g0016 a0002c0004t0002g0049 a0002c0004t0002g0054 a0005c0010t0016g0126	19	330	0.0576	25	c.433 others(44): Show c.433+10802_433+10803insCTTTTCTTTCTTTCTTTCTTTCTTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCC_chr18_52335197_53540899	52515606	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02080.hp2 HG01993.hp1 HG02080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0005 a0002c0001t0002 a0002c0001t0005	a0002c0001t0002g0017 a0002c0001t0005g0088 a0002c0001t0002g0017 a0002c0001t0005g0088	2	114	0.0175	25	c.91+ others(44): Show c.91+174748_91+174749insAAAAAAAAAAAAAAAAAAAAAAAAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52792769	T T	TATTCCAT others(18): Show TATTCCATTCCATTCCATTCCATTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0031 a0005c0021t0031	a0005c0021t0031g0004 a0005c0021t0031g0004	1	114	0.0088	25	c.412 others(44): Show c.412+40407_412+40431dupTTCCATTCCATTCCATTCCATTCCA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52879412	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01257.hp1 HG01993.hp2 others(1): Show HG01069.hp1 HG01257.hp1 HG01993.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0008 a0001c0002 a0001c0003 a0001c0008	a0001c0002t0003 a0001c0002t0034 a0001c0003t0003 others(1): Show a0001c0002t0003 a0001c0002t0034 a0001c0003t0003 a0001c0008t0026	a0001c0002t0003g0059 a0001c0002t0034g0091 a0001c0003t0003g0041 others(1): Show a0001c0002t0003g0059 a0001c0002t0034g0091 a0001c0003t0003g0041 a0001c0008t0026g0095	4	114	0.0351	25	c.413 others(44): Show c.413-26627_413-26603dupTTTTTTTTTTTTTTTTTTTTTTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52959539	C C	CATTGTAT others(18): Show CATTGTATTCAATAAGTAGTTTTTCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02922.hp2 NA19030.hp1 HG00735.hp2 HG02922.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0006 a0001c0005 a0003c0006	a0001c0005t0007 a0003c0006t0010 a0001c0005t0007 a0003c0006t0010	a0001c0005t0007g0108 a0001c0005t0007g0114 a0003c0006t0010g0001 a0001c0005t0007g0108 a0001c0005t0007g0114 a0003c0006t0010g0001	3	114	0.0263	25	c.985 others(44): Show c.985+34169_985+34170insATTGTATTCAATAAGTAGTTTTTCA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28			chr18	TogoVar
DCC_chr18_52335197_53540899	53090698	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01069.hp2 HG00597.hp2 HG01069.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0002	a0001c0002t0001g0024 a0002c0001t0002g0063 a0001c0002t0001g0024 a0002c0001t0002g0063	2	114	0.0175	25	c.126 others(46): Show c.1261+24544_1261+24568dupAAAAAAAAAAAAAAAAAAAAAAAA A	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53148865	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0107 a0002c0001t0002g0107	1	114	0.0088	25	c.126 others(44): Show c.1262-8474_1262-8473insTTTTTTTTTTTTTTTTTTTTTTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar

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