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
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(8): Show CTTCTTCTTCTTCCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	166	0.0060	15	c.640 others(34): Show c.640+32013_640+32014insTTCTTCTTCTTCCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11			chrX	TogoVar
DACH2_chrX_86143451_86837602	86593398	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03017.hp1 HG03139.hp1 others(2): Show HG02080.hp1 HG03017.hp1 HG03139.hp1 NA18990.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0100 a0001c0001t0001g0143 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0100 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0002g0019	5	166	0.0301	15	c.641 others(34): Show c.641-57608_641-57594dupATTTTATTTTATTTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86610418	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03209.hp1 HG01943.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0002g0166 a0001c0001t0001g0008 a0001c0001t0002g0166	2	166	0.0121	15	c.641 others(34): Show c.641-40616_641-40615insCTTTCTTTCTTTCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86667497	A A	AGAGAAAG others(8): Show AGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	166	0.0060	15	c.772 others(34): Show c.772+16330_772+16331insGAGAAAGAAAGAAAG	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	4/11			chrX	TogoVar
DACH2_chrX_86143451_86837602	86698519	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	166	0.0060	15	c.931 others(32): Show c.931+3341_931+3342insTTTTTTTTTTTTTTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86698521	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03516.hp2 NA18965.hp1 others(2): Show HG02132.hp1 HG03516.hp2 NA18965.hp1 NA19068.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0122 a0001c0001t0001g0126	5	166	0.0301	15	c.931 others(32): Show c.931+3355_931+3369dupTTTTTTTTTTTTTTT	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(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	166	0.0060	15	c.932 others(32): Show c.932-6632_932-6618dupAAAAAAAAAAAAAAA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT2_chr6_168301904_168324777	168320161	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG02071.hp1 others(10): Show HG01074.hp2 HG01175.hp2 HG02071.hp1 HG02080.hp1 HG03669.hp1 NA18612.hp1 NA18986.hp1 NA18993.hp1 NA19004.hp1 NA19009.hp1 NA19064.hp1 NA19066.hp2 NA19079.hp2	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0002c0003 a0002c0005 others(1): Show a0001c0001 a0002c0003 a0002c0005 a0022c0023	a0001c0001t0001 a0002c0003t0006 a0002c0005t0006 others(1): Show a0001c0001t0001 a0002c0003t0006 a0002c0005t0006 a0022c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0047 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0197 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0002c0003t0006g0210 a0002c0005t0006g0009 a0002c0005t0006g0226 a0022c0023t0001g0218	13	476	0.0273	15	c.-52 others(24): Show c.-529_-528insAAAAAAAAAAAAAAA	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		385		chr6	TogoVar
DACT2_chr6_168301904_168324777	168321919	C C	CCTCCTTC others(8): Show CCTCCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	476	0.0021	15	c.-22 others(26): Show c.-2287_-2286insAAGAAGAAGAAGGAG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2143		chr6	TogoVar
DACT2_chr6_168301904_168324777	168321919	C C	CCTTCTTC others(8): Show CCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	476	0.0021	15	c.-22 others(26): Show c.-2287_-2286insAAGAAGAAGAAGAAG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2143		chr6	TogoVar
DACT2_chr6_168301904_168324777	168321925	C C	CCTTCTCC others(8): Show CCTTCTCCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 NA19002.hp1 NA19010.hp2 others(2): Show HG00735.hp1 NA19002.hp1 NA19010.hp2 NA19074.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0014 a0002c0003t0006 a0001c0001t0001 a0001c0001t0014 a0002c0003t0006	a0001c0001t0001g0033 a0001c0001t0014g0282 a0002c0003t0006g0283 a0001c0001t0001g0033 a0001c0001t0014g0282 a0002c0003t0006g0283	5	476	0.0105	15	c.-22 others(26): Show c.-2293_-2292insAAGAAGAAGGAGAAG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2149		chr6	TogoVar
DACT2_chr6_168301904_168324777	168321925	C C	CCTTCTTC others(8): Show CCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 NA18998.hp2 HG03654.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0237 a0001c0011t0001g0323 a0001c0001t0001g0237 a0001c0011t0001g0323	2	476	0.0042	15	c.-22 others(26): Show c.-2293_-2292insAAGAAGAAGAAGAAG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2149		chr6	TogoVar
DACT2_chr6_168301904_168324777	168321928	T T	TCTCCTTC others(8): Show TCTCCTTCTCCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0305 a0002c0003t0009g0305	1	476	0.0021	15	c.-22 others(26): Show c.-2296_-2295insGAGAAGGAGAAGGAG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2152		chr6	TogoVar
DAG1_chr3_49465267_49540615	49528275	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18940.hp2 NA19030.hp2 others(1): Show HG01884.hp2 NA18940.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0003 a0001c0002t0002 a0001c0011t0003 a0001c0001t0003 a0001c0002t0002 a0001c0011t0003	a0001c0001t0003g0224 a0001c0001t0003g0234 a0001c0002t0002g0068 others(1): Show a0001c0001t0003g0224 a0001c0001t0003g0234 a0001c0002t0002g0068 a0001c0011t0003g0221	4	238	0.0168	15	c.286 others(32): Show c.286-2509_286-2495dupTTTTTTTTTTTTTTT	DAG1	ENSG00000173402.13	transcript	ENST00000308775.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DAG1_chr3_49465267_49540615	49538480	G G	GTATTATT others(8): Show GTATTATTATTATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0057 a0001c0013t0013g0057	1	238	0.0042	15	c.52 others(26): Show c.5281_*5282insTATTATTATTATTAT	DAG1	ENSG00000173402.13	transcript	ENST00000308775.7	protein_coding		2866		chr3	TogoVar
DAGLB_chr7_6404129_6452954	6407147	A A	AAATTTTT others(8): Show AAATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG02809.hp2 others(2): Show HG02257.hp2 HG02647.hp2 HG02809.hp2 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0352 a0001c0001t0005g0353 a0001c0001t0005g0354 others(2): Show a0001c0001t0005g0352 a0001c0001t0005g0353 a0001c0001t0005g0354 a0001c0001t0005g0356 a0001c0001t0005g0358	5	380	0.0132	15	c.26 others(26): Show c.2689_*2690insAAAAAAAAAAAAATT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding		1981		chr7	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(8): Show TCAGCGCGGGAAGGCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03225.hp1 NA19068.hp2 others(1): Show HG01496.hp2 HG03225.hp1 NA19068.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0011 a0001c0004t0002 a0001c0004t0011	a0001c0004t0002g0059 a0001c0004t0002g0197 a0001c0004t0002g0271 others(1): Show a0001c0004t0002g0059 a0001c0004t0002g0197 a0001c0004t0002g0271 a0001c0004t0011g0203	4	380	0.0105	15	c.121 others(32): Show c.1218+419_1218+420insCGCCTTCCCGCGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAO_chr12_108875092_108906043	108896419	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02897.hp1 HG01192.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0286 a0001c0002t0001g0209 a0001c0002t0001g0286	2	388	0.0052	15	c.613 others(30): Show c.613-578_613-564dupAAAAAAAAAAAAAAA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
DAO_chr12_108875092_108906043	108904369	G G	GGTTCAAG others(8): Show GGTTCAAGAGATTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	388	0.0026	15	c.38 others(26): Show c.3834_*3835insGTTCAAGAGATTTTC	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		3327		chr12	TogoVar
DAPK1_chr9_87492867_87713634	87511668	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	236	0.0042	15	c.62+ others(32): Show c.62+12529_62+12530insGTGTGTGTGTGTGTG	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK1_chr9_87492867_87713634	87575213	C C	CAATAAAA others(8): Show CAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG04204.hp1 NA20905.hp1 HG01071.hp2 HG04204.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0029 a0002c0003 a0001c0002 a0001c0029 a0002c0003	a0001c0002t0004 a0001c0029t0001 a0002c0003t0001 a0001c0002t0004 a0001c0029t0001 a0002c0003t0001	a0001c0002t0004g0075 a0001c0029t0001g0134 a0002c0003t0001g0150 a0001c0002t0004g0075 a0001c0029t0001g0134 a0002c0003t0001g0150	3	236	0.0127	15	c.63- others(32): Show c.63-29694_63-29680dupATAAAATAAAATAAA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87632922	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0153 a0001c0030t0001g0153	1	236	0.0042	15	c.285 others(32): Show c.285-5021_285-5020insTATATATATATATAT	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	3/25			chr9	TogoVar
DAPK1_chr9_87492867_87713634	87662560	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG03209.hp1 others(1): Show HG02895.hp1 HG02896.hp2 HG03209.hp1 HG03942.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0003c0012 others(1): Show a0001c0002 a0003c0007 a0003c0012 a0003c0028	a0001c0002t0001 a0003c0007t0002 a0003c0012t0002 others(1): Show a0001c0002t0001 a0003c0007t0002 a0003c0012t0002 a0003c0028t0002	a0001c0002t0001g0022 a0003c0007t0002g0107 a0003c0012t0002g0212 others(1): Show a0001c0002t0001g0022 a0003c0007t0002g0107 a0003c0012t0002g0212 a0003c0028t0002g0046	4	236	0.0170	15	c.192 others(34): Show c.1923+4444_1923+4458dupTTTTTTTTTTTTTTT	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK2_chr15_63902036_64051485	64033326	A A	AAGGAAGG others(8): Show AAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	214	0.0047	15	c.92+ others(30): Show c.92+6843_92+6844insCCTTCCTTCCTTCCT	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK3_chr19_3953453_3976099	3953637	A A	AGGGGGGC others(8): Show AGGGGGGCGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01074.hp2 HG01081.hp1 others(5): Show HG00673.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01192.hp2 HG01928.hp2 HG02145.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0110 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0110 a0001c0001t0002g0006 a0001c0001t0002g0025	8	364	0.0220	15	c.54 others(26): Show c.5463_*5464insCCCCCCCCGCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4815		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953644	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	364	0.0028	15	c.54 others(26): Show c.5456_*5457insCCCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4808		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953645	G G	GGGGGGGG others(8): Show GGGGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00733.hp2 others(34): Show HG00099.hp1 HG00733.hp1 HG00733.hp2 HG01167.hp2 HG01255.hp1 HG01346.hp2 HG01515.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG03209.hp1 HG03239.hp1 HG03492.hp2 HG03834.hp1 HG03834.hp2 NA18612.hp2 NA18747.hp2 NA18944.hp1 NA18947.hp2 NA18952.hp2 NA18954.hp2 NA18962.hp1 NA18970.hp1 NA18985.hp1 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0006g0060 a0001c0001t0008g0084 a0001c0001t0010g0085	37	364	0.1017	15	c.54 others(26): Show c.5455_*5456insGCCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4807		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953646	G G	GGGGGGGG others(8): Show GGGGGGGGGGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	15	c.54 others(26): Show c.5454_*5455insGCGCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4806		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953646	G G	GGGGGGGG others(8): Show GGGGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02976.hp2 others(7): Show HG02109.hp2 HG02258.hp1 HG02976.hp2 HG03516.hp2 HG04204.hp2 NA18906.hp1 NA18941.hp2 NA18968.hp2 NA19004.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0024 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0002g0049 a0001c0001t0002g0062 a0001c0001t0003g0005 a0001c0001t0006g0023 a0001c0002t0001g0028	10	364	0.0275	15	c.54 others(26): Show c.5454_*5455insGCCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4806		chr19	TogoVar
DAPL1_chr2_158790317_158820990	158809357	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02257.hp2 others(8): Show HG00639.hp2 HG01891.hp2 HG02257.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG03139.hp1 HG03209.hp2 HG03540.hp1 NA18522.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0042 a0001c0001t0001g0147 a0001c0001t0002g0043 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0147 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0134 a0001c0001t0002g0148 a0002c0002t0002g0061	11	360	0.0306	15	c.207 others(32): Show c.207+2253_207+2254insAAAAAAAAAAAAAAA	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAPP1_chr4_99811827_99875190	99827532	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	366	0.0027	15	c.102 others(32): Show c.102-8081_102-8080insAAAAAAAAAAAAAAA	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
DAPP1_chr4_99811827_99875190	99839369	A A	ATAGATAT others(8): Show ATAGATATATATAGAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18522.hp1 NA19240.hp1 HG02647.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0264 a0001c0001t0010g0041 a0001c0001t0010g0264	3	366	0.0082	15	c.225 others(30): Show c.225-913_225-912insATATAGATTAGATAT	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
DARS1_chr2_135900881_135990626	135907242	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG02080.hp2 NA18906.hp2 others(1): Show HG01099.hp2 HG02080.hp2 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0265 a0001c0001t0010g0271 a0001c0001t0010g0313 others(1): Show a0001c0001t0010g0265 a0001c0001t0010g0271 a0001c0001t0010g0313 a0001c0001t0010g0322	4	378	0.0106	15	c.59 others(22): Show c.59_*73dupAAAAAAAAAAAAAAA	DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	16/16	73		chr2	TogoVar
DARS1_chr2_135900881_135990626	135952796	A A	ACAATTTC others(8): Show ACAATTTCACCTCACT	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	378	0.0027	15	c.320 others(32): Show c.320+8599_320+8600insAGTGAGGTGAAATTG	DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	4/15			chr2	TogoVar
DARS1_chr2_135900881_135990626	135959391	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	378	0.0027	15	c.320 others(32): Show c.320+1990_320+2004dupTTTTTTTTTTTTTTT	DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	4/15			chr2	TogoVar
DARS1_chr2_135900881_135990626	135981674	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0256 a0001c0001t0023g0256	1	378	0.0027	15	c.124 others(32): Show c.124+1722_124+1723insAAAAAAAAAAAAAAA	DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	2/15			chr2	TogoVar
DARS2_chr1_173819673_173863546	173825448	C C	CTATTATT others(8): Show CTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0316 a0003c0003t0002g0316	1	344	0.0029	15	c.127 others(28): Show c.127+92_127+93insTATTATTATTATTAT	DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	1/16			chr1	TogoVar
DARS2_chr1_173819673_173863546	173825449	C C	CATTATTA others(8): Show CATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00609.hp2 others(24): Show HG00280.hp1 HG00408.hp1 HG00609.hp2 HG00621.hp2 HG01070.hp2 HG01071.hp2 HG01978.hp1 HG02040.hp2 HG02056.hp1 HG02132.hp2 HG02257.hp1 HG02293.hp1 HG02523.hp1 HG02896.hp1 HG02976.hp2 HG03139.hp1 HG03453.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 NA18522.hp1 NA18956.hp1 NA18963.hp1 NA18965.hp2 NA18990.hp1 NA19068.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0032 others(22): Show a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0003 a0001c0001t0002g0030 a0001c0001t0004g0043 a0001c0001t0004g0044 a0002c0002t0001g0029	27	344	0.0785	15	c.127 others(30): Show c.127+115_127+129dupATTATTATTATTATT	DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
DARS2_chr1_173819673_173863546	173842317	T T	TTTTTTTT others(8): Show TTTTTTTTTGAGAGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02965.hp2 HG03041.hp1 others(1): Show HG01192.hp2 HG02965.hp2 HG03041.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0124 a0001c0001t0002g0147 a0003c0003t0002g0087 others(1): Show a0001c0001t0002g0124 a0001c0001t0002g0147 a0003c0003t0002g0087 a0003c0003t0002g0316	4	344	0.0116	15	c.112 others(34): Show c.1128+1344_1128+1345insTTTTTTTTGAGAGTG	DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	11/16			chr1	TogoVar
DARS2_chr1_173819673_173863546	173844669	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	344	0.0029	15	c.112 others(32): Show c.1129-535_1129-521dupAAAAAAAAAAAAAAA	DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAW1_chr2_227866631_227929344	227918179	C C	CCATCCAT others(8): Show CCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 NA18940.hp1 others(1): Show HG02055.hp1 HG02257.hp1 NA18940.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0130 a0001c0003t0002g0177	4	340	0.0118	15	c.974 others(30): Show c.974-599_974-585dupATCCATCCATCCATC	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAZ2_chrY_23214533_23296356	23249564	T T	TCTTTCTT others(8): Show TCTTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03710.hp1 HG01099.hp1 HG03710.hp1	a0004 a0004	a0004c0006 a0004c0008 a0004c0006 a0004c0008	a0004c0006t0001 a0004c0008t0001 a0004c0006t0001 a0004c0008t0001	a0004c0006t0001g0027 a0004c0008t0001g0017 a0004c0006t0001g0027 a0004c0008t0001g0017	2	54	0.0370	15	c.114 others(32): Show c.1146+730_1146+731insCTTTCTTTTTCTTTC	DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	15/27			chrY	TogoVar
DAZAP1_chr19_1402586_1440684	1407619	A A	AGCCGCCG others(8): Show AGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01099.hp2 others(12): Show HG00639.hp1 HG01099.hp1 HG01099.hp2 HG01884.hp1 HG02735.hp1 HG03098.hp1 HG03540.hp2 HG04199.hp1 NA18747.hp2 NA18906.hp1 NA18947.hp1 NA18984.hp2 NA19012.hp1 NA19065.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0001t0017 a0001c0001t0036 others(3): Show a0001c0001t0013 a0001c0001t0017 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0003t0017	a0001c0001t0013g0108 a0001c0001t0013g0182 a0001c0001t0013g0200 others(12): Show a0001c0001t0013g0108 a0001c0001t0013g0182 a0001c0001t0013g0200 a0001c0001t0013g0206 a0001c0001t0013g0213 a0001c0001t0013g0287 a0001c0001t0013g0308 a0001c0001t0017g0167 a0001c0001t0017g0188 a0001c0001t0017g0199 a0001c0001t0017g0315 a0001c0001t0036g0020 a0001c0001t0037g0020 a0001c0001t0038g0015 a0001c0003t0017g0276	15	374	0.0401	15	c.-12 others(24): Show c.-126_-112dupCCGCCGCCGCCGCCG	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	1/12	111	INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1424197	A A	ACGTCTAC others(8): Show ACGTCTACCCTCGGCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	374	0.0027	15	c.464 others(32): Show c.464-1678_464-1664dupTCTACCCTCGGCCCG	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DBNDD1_chr16_89999871_90024456	90013262	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp1 HG03453.hp2 HG02723.hp2 HG02976.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0055 a0001c0001t0001g0116 a0001c0001t0008g0057 a0001c0001t0001g0055 a0001c0001t0001g0116 a0001c0001t0008g0057	3	412	0.0073	15	c.32- others(30): Show c.32-3847_32-3833dupTTTTTTTTTTTTTTT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	1/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90024158	A A	ACACACAC others(8): Show ACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	412	0.0024	15	c.-48 others(26): Show c.-4818_-4817insGTGTGTGTGTGTGTG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		4703		chr16	TogoVar
DBNL_chr7_44039702_44074456	44043014	A A	ACATATAC others(8): Show ACATATACATATGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0011 a0001c0002t0009g0011	2	380	0.0053	15	c.-17 others(26): Show c.-1724_-1723insCATATACATATGCAT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1687		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043042	T T	TATAATAT others(8): Show TATAATATATGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG02572.hp2 others(1): Show HG01891.hp1 HG02559.hp1 HG02572.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0047 a0001c0002t0019 a0001c0002t0047	a0001c0002t0019g0019 a0001c0002t0047g0019 a0001c0002t0019g0019 a0001c0002t0047g0019	4	380	0.0105	15	c.-16 others(26): Show c.-1696_-1695insATAATATATGTATAC	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1659		chr7	TogoVar
DBR1_chr3_138155988_138179921	138160178	A A	AATGAGTG others(8): Show AATGAGTGAATTATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	15	c.17 others(26): Show c.1710_*1711insGAATAATTCACTCAT	DBR1	ENSG00000138231.14	transcript	ENST00000260803.9	protein_coding		809		chr3	TogoVar
DBT_chr1_100181919_100254834	100238320	T T	TCCCTCCC others(8): Show TCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19240.hp1 HG03516.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0020 a0003c0003t0020	a0003c0003t0020g0073 a0003c0003t0020g0074 a0003c0003t0020g0073 a0003c0003t0020g0074	2	222	0.0090	15	c.175 others(32): Show c.175+2426_175+2440dupGAGGGGAGGGGAGGG	DBT	ENSG00000137992.15	transcript	ENST00000370132.8	protein_coding	2/10			chr1	TogoVar

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