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
DDX60L_chr4_168351735_168485492	168459817	A A	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp2 HG03688.hp1 HG03688.hp2	a0015 a0022 a0015 a0022	a0015c0022 a0022c0033 a0015c0022 a0022c0033	a0015c0022t0001 a0022c0033t0001 a0015c0022t0001 a0022c0033t0001	a0015c0022t0001g0050 a0022c0033t0001g0109 a0015c0022t0001g0050 a0022c0033t0001g0109	2	268	0.0075	23	c.607 others(40): Show c.607-1810_607-1809insCCTTCCTTCCTTCCTTCCTTCCT	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	5/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168215492	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0205 a0001c0012t0001g0205	1	270	0.0037	23	c.14 others(34): Show c.1440_*1441insTTTTTTTTTTTTTTTTTTTTTTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding		801		chr4	TogoVar
DEFB107A_chr8_7806720_7820716	7815247	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	170	0.0059	23	c.70+ others(36): Show c.70+289_70+311dupTTTTTTTTTTTTTTTTTTTTTTT	DEFB107A	ENSG00000186572.2	transcript	ENST00000335021.2	protein_coding	1/1			chr8	TogoVar
DEFB116_chr20_31298212_31313585	31298455	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG01255.hp1 others(6): Show HG00558.hp1 HG00642.hp2 HG01255.hp1 HG02055.hp1 HG02080.hp2 HG02809.hp2 NA18964.hp2 NA19000.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0003 a0001c0001t0000g0010 others(1): Show a0001c0001t0000g0001 a0001c0001t0000g0003 a0001c0001t0000g0010 a0001c0001t0000g0012	9	416	0.0216	23	c.47 others(34): Show c.4756_*4757insTTTTTTTTTTTTTTTTTTTTTTT	DEFB116	ENSG00000215545.1	transcript	ENST00000400549.1	protein_coding		4756		chr20	TogoVar
DENND10_chr10_119099113_119142984	119115382	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18939.hp1 NA18960.hp1 others(1): Show HG03927.hp2 NA18939.hp1 NA18960.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0201 a0001c0001t0001g0299 a0001c0001t0005g0202 others(1): Show a0001c0001t0001g0201 a0001c0001t0001g0299 a0001c0001t0005g0202 a0001c0001t0005g0205	4	374	0.0107	23	c.333 others(40): Show c.333-2136_333-2114dupTTTTTTTTTTTTTTTTTTTTTTT	DENND10	ENSG00000119979.18	transcript	ENST00000361432.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
DENND1A_chr9_123374658_123935126	123620232	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 NA18962.hp1 HG03139.hp1 HG03139.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0001 a0001c0001t0004 a0001c0006t0001	a0001c0001t0004g0080 a0001c0006t0001g0019 a0001c0006t0001g0098 a0001c0001t0004g0080 a0001c0006t0001g0019 a0001c0006t0001g0098	3	162	0.0185	23	c.719 others(42): Show c.719+10143_719+10144insCTTTTTTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	10/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123663609	C C	CTGGAGGG others(16): Show CTGGAGGGAGAGTGGGATTGGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	162	0.0062	23	c.507 others(40): Show c.507+3394_507+3416dupACCCCAATCCCACTCTCCCTCCA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	8/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123710534	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0160 a0001c0006t0011g0160	1	162	0.0062	23	c.303 others(42): Show c.303-33746_303-33745insGTGTGTGTGTGTGTGTGTGTGTG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1B_chr1_197499748_197780480	197713805	A A	AATATATT others(16): Show AATATATTATATATAATATATTAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0164 a0001c0001t0011g0164	1	280	0.0036	23	c.126 others(40): Show c.126+1203_126+1225dupATAATATATTATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	254	0.0039	23	c.195 others(40): Show c.1959+611_1959+612insATATATATATATATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02602.hp1 HG01175.hp1 HG02602.hp1	a0003 a0004 a0003 a0004	a0003c0006 a0004c0008 a0003c0006 a0004c0008	a0003c0006t0003 a0004c0008t0001 a0003c0006t0003 a0004c0008t0001	a0003c0006t0003g0054 a0004c0008t0001g0043 a0003c0006t0003g0054 a0004c0008t0001g0043	2	254	0.0079	23	c.195 others(40): Show c.1959+611_1959+612insAAAAATATATATATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140557531	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	254	0.0039	23	c.195 others(40): Show c.1959+611_1959+612insAAAAAAATATATATATATATATA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	11/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140625705	A A	ACAAACAA others(16): Show ACAAACAAAAACAAAAAACAAAAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	254	0.0039	23	c.-24 others(44): Show c.-248+14798_-248+14799insATTTTGTTTTTTGTTTTTGTTTG	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	1/19			chr7	TogoVar
DENND2B_chr11_8688352_8815674	8806639	C C	CACACACA others(16): Show CACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0339 a0004c0004t0001g0339	1	352	0.0028	23	c.-26 others(40): Show c.-26+3877_-26+3878insTGTGTGTGTGTGTGTGTGTGTGT	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND4A_chr15_65654123_65797293	65709719	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	304	0.0033	23	c.195 others(42): Show c.1954-3496_1954-3495insATATATATATATATATATTTTTT	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	14/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65709719	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	304	0.0033	23	c.195 others(42): Show c.1954-3496_1954-3495insATATATATATATATATATATTTT	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	14/32			chr15	TogoVar
DENND4A_chr15_65654123_65797293	65720982	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19004.hp2 HG02280.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0050 a0001c0001t0009 a0001c0002t0050	a0001c0001t0009g0154 a0001c0002t0050g0266 a0001c0001t0009g0154 a0001c0002t0050g0266	2	304	0.0066	23	c.158 others(42): Show c.1588+1865_1588+1866insTATATATATATATATATATATAT	DENND4A	ENSG00000174485.16	transcript	ENST00000443035.8	protein_coding	12/32			chr15	TogoVar
DENND6B_chr22_50304030_50332012	50307781	A A	AGGGGGAG others(16): Show AGGGGGAGGGGGAAGAGGGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	326	0.0031	23	c.43 others(34): Show c.4357_*4358insCTCCCCCCTCTTCCCCCTCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1248		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317123	G G	GAGGACAG others(16): Show GAGGACAGGGTGGGGGGGGCGGCA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18999.hp1 NA18974.hp2 NA18999.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0167 a0001c0006t0004g0175 a0001c0006t0004g0167 a0001c0006t0004g0175	2	326	0.0061	23	c.453 others(38): Show c.453+169_453+170insTGCCGCCCCCCCCACCCTGTCCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317133	T T	TGGGGGGG others(16): Show TGGGGGGGCGGCAAGGACAGGGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0168 a0001c0004t0004g0168	1	326	0.0031	23	c.453 others(38): Show c.453+159_453+160insCACCCTGTCCTTGCCGCCCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENR_chr12_122747824_122776064	122750627	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00735.hp2 others(14): Show HG00438.hp2 HG00544.hp1 HG00735.hp2 HG01884.hp1 HG01928.hp2 HG01952.hp2 HG02135.hp2 HG02293.hp2 HG02698.hp2 NA18612.hp1 NA18959.hp2 NA18971.hp1 NA18983.hp2 NA19002.hp2 NA19084.hp1 NA19087.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0030	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0003g0001 a0001c0001t0003g0045 a0001c0001t0004g0007 a0001c0001t0030g0018	17	364	0.0467	23	c.-23 others(34): Show c.-2333_-2332insAAAAAAAAAAAAAAAAAAAAAAA	DENR	ENSG00000139726.11	transcript	ENST00000280557.11	protein_coding		2196		chr12	TogoVar
DEPTOR_chr8_119868722_120055918	119900380	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02451.hp1 HG03710.hp2 HG01975.hp1 HG02451.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0003 a0002c0001t0003 a0002c0001t0005 a0001c0003t0003 a0002c0001t0003 a0002c0001t0005	a0001c0003t0003g0029 a0002c0001t0003g0012 a0002c0001t0005g0008 a0001c0003t0003g0029 a0002c0001t0003g0012 a0002c0001t0005g0008	3	198	0.0152	23	c.122 others(42): Show c.122+26414_122+26436dupTTTTTTTTTTTTTTTTTTTTTTT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	119985826	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0195 a0004c0006t0009g0195	1	198	0.0051	23	c.605 others(42): Show c.605-15684_605-15662dupTTTTTTTTTTTTTTTTTTTTTTT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120030497	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03704.hp2 HG03834.hp2 HG02698.hp1 HG03704.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0008 a0001c0002t0004 a0001c0003t0008	a0001c0002t0004g0079 a0001c0003t0008g0049 a0001c0003t0008g0058 a0001c0002t0004g0079 a0001c0003t0008g0049 a0001c0003t0008g0058	3	198	0.0152	23	c.110 others(44): Show c.1102-19073_1102-19051dupTTTTTTTTTTTTTTTTTTTTTTT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DERL3_chr22_23829503_23844006	23834490	G G	GCAACAGG others(16): Show GCAACAGGTCATGTTCAATTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01433.hp1 HG01891.hp1 others(33): Show HG01346.hp1 HG01433.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0005c0010 a0006c0009 a0002c0002 a0005c0010 a0006c0009	a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 others(6): Show a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0017 a0002c0002t0020 a0005c0010t0006 a0006c0009t0007	a0002c0002t0006g0008 a0002c0002t0007g0010 a0002c0002t0007g0013 others(8): Show a0002c0002t0006g0008 a0002c0002t0007g0010 a0002c0002t0007g0013 a0002c0002t0007g0034 a0002c0002t0010g0017 a0002c0002t0011g0021 a0002c0002t0012g0022 a0002c0002t0017g0038 a0002c0002t0020g0046 a0005c0010t0006g0053 a0006c0009t0007g0050	36	431	0.0835	23	c.23 others(34): Show c.2356_*2378dupAAGAAATTGAACATGACCTGTTG	DERL3	ENSG00000099958.15	transcript	ENST00000318109.12	protein_coding		12		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594358	T T	TGGGGGCG others(16): Show TGGGGGCGGGTGGTGGCGGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0034 a0001c0001t0011g0034	1	308	0.0033	23	c.67 others(34): Show c.6738_*6739insCACCCCCGCCACCACCCGCCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3669		chr22	TogoVar
DET1_chr15_88507480_88551681	88533852	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	402	0.0025	23	c.-10 others(40): Show c.-10-2160_-10-2138dupTTTTTTTTTTTTTTTTTTTTTTT	DET1	ENSG00000140543.15	transcript	ENST00000268148.13	protein_coding	1/4			chr15	TogoVar
DGAT1_chr8_144309584_144331852	144313665	G G	GCCTCCCC others(16): Show GCCTCCCCGCGCCTCCCCGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	370	0.0027	23	c.28 others(34): Show c.2888_*2889insGGAGGCGGGGAGGCGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		918		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313707	G G	GCCTCCCC others(16): Show GCCTCCCCGCGCCTCCCCGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	370	0.0027	23	c.28 others(34): Show c.2846_*2847insGGAGGCGGGGAGGCGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		876		chr8	TogoVar
DGCR6_chr22_18901320_18917088	18906722	C C	CGAGGTGC others(16): Show CGAGGTGCGCGGGGGCAGCGGGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0052 a0006c0012t0001g0052	1	413	0.0024	23	c.271 others(35): Show c.271+5_271+27dupGCGGGGGCAGCGGGAGGAGGTGC	DGCR6	ENSG00000183628.14	transcript	ENST00000331444.12	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
DGKB_chr7_14140049_14907751	14177554	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	148	0.0068	23	c.224 others(40): Show c.2243+454_2243+476dupTTTTTTTTTTTTTTTTTTTTTTT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	24/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211425	T T	TATTTACT others(16): Show TATTTACTCTCGTGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19030.hp1 HG02723.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0003 a0001c0008t0003 a0001c0002t0003 a0001c0008t0003	a0001c0002t0003g0069 a0001c0008t0003g0078 a0001c0002t0003g0069 a0001c0008t0003g0078	2	148	0.0135	23	c.212 others(44): Show c.2123-33275_2123-33274insTATCACAAAACACGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211511	T T	TATTTACT others(16): Show TATTTACTCTCATGCTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0086 a0001c0003t0015g0086	1	148	0.0068	23	c.212 others(44): Show c.2123-33361_2123-33360insTATCACAAAGCATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211511	T T	TATTTACT others(16): Show TATTTACTCTCGTGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	148	0.0068	23	c.212 others(44): Show c.2123-33361_2123-33360insTATCACAAAACACGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211532	T T	TATTTACT others(16): Show TATTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0033 a0003c0010t0033	a0003c0010t0033g0007 a0003c0010t0033g0007	1	148	0.0068	23	c.212 others(44): Show c.2123-33382_2123-33381insTATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211618	T T	TATTTACT others(16): Show TATTTACTCTCGTGTTTTGTGATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0056 a0001c0003t0003g0056	1	148	0.0068	23	c.212 others(44): Show c.2123-33468_2123-33467insTATCACAAAACACGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211875	T T	TATTTACT others(16): Show TATTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp1 HG02886.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0057 a0001c0003t0005g0073 a0001c0003t0005g0057 a0001c0003t0005g0073	2	148	0.0135	23	c.212 others(44): Show c.2123-33725_2123-33724insTATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212132	T T	TATTTACT others(16): Show TATTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0075 a0001c0003t0014g0075	1	148	0.0068	23	c.212 others(44): Show c.2123-33982_2123-33981insTATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212217	T T	TATTTACT others(16): Show TATTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0018 a0001c0014t0001g0018	1	148	0.0068	23	c.212 others(44): Show c.2123-34067_2123-34066insTATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212280	T T	TATTTACT others(16): Show TATTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	148	0.0068	23	c.212 others(44): Show c.2123-34130_2123-34129insTATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212408	T T	TATTTACT others(16): Show TATTTACTCTCATGCTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0086 a0001c0003t0015g0086	1	148	0.0068	23	c.212 others(44): Show c.2123-34258_2123-34257insTATCACAAAGCATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14392995	G G	GTTTTGTT others(16): Show GTTTTGTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	148	0.0068	23	c.183 others(44): Show c.1836-47605_1836-47604insAAAAAAAAAAAAAAACAACAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14392995	G G	GTTTTTGT others(16): Show GTTTTTGTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02056.hp2 HG01074.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0099 a0001c0004t0002g0115 a0001c0001t0002g0099 a0001c0004t0002g0115	2	148	0.0135	23	c.183 others(44): Show c.1836-47605_1836-47604insAAAAAAAAAAACAAAAACAAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14392995	G G	GTTTTTGT others(16): Show GTTTTTGTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18906.hp1 HG02717.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0002 a0001c0003t0001 a0001c0009t0002	a0001c0003t0001g0006 a0001c0009t0002g0082 a0001c0003t0001g0006 a0001c0009t0002g0082	2	148	0.0135	23	c.183 others(44): Show c.1836-47605_1836-47604insAAAAAAAAAACAAAAAACAAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14392995	G G	GTTTTTGT others(16): Show GTTTTTGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01515.hp2 HG01952.hp1 others(15): Show HG00621.hp1 HG01515.hp2 HG01952.hp1 HG01978.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02145.hp2 HG02258.hp1 HG02622.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG03540.hp2 HG03831.hp1 HG06807.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0025 a0001c0002t0001 a0001c0002t0031 a0001c0002t0040 a0001c0003t0005 a0001c0003t0010 a0001c0003t0037 a0001c0004t0001 a0001c0004t0005 a0001c0008t0003 a0001c0014t0001	a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0091 others(15): Show a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0091 a0001c0001t0002g0143 a0001c0001t0004g0142 a0001c0001t0025g0021 a0001c0002t0001g0090 a0001c0002t0001g0096 a0001c0002t0031g0008 a0001c0002t0040g0068 a0001c0003t0005g0073 a0001c0003t0010g0089 a0001c0003t0037g0005 a0001c0004t0001g0071 a0001c0004t0001g0103 a0001c0004t0005g0023 a0001c0008t0003g0078 a0001c0014t0001g0018	18	148	0.1216	23	c.183 others(44): Show c.1836-47605_1836-47604insAAAAAAAAAAAAAAAAACAAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14392995	G G	GTTTTTTT others(16): Show GTTTTTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18988.hp1 NA20300.hp2 HG01952.hp2 NA18988.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0028 a0001c0016t0001 a0001c0001t0001 a0001c0001t0028 a0001c0016t0001	a0001c0001t0001g0129 a0001c0001t0028g0095 a0001c0016t0001g0039 a0001c0001t0001g0129 a0001c0001t0028g0095 a0001c0016t0001g0039	3	148	0.0203	23	c.183 others(44): Show c.1836-47605_1836-47604insAAAAAAAAAAAAAAACAAAAAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14758903	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG02922.hp2 HG02145.hp1 HG02723.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0036 a0001c0002t0003 a0001c0003t0036	a0001c0002t0003g0001 a0001c0002t0003g0069 a0001c0003t0036g0050 a0001c0002t0003g0001 a0001c0002t0003g0069 a0001c0003t0036g0050	3	148	0.0203	23	c.71- others(38): Show c.71-1195_71-1173dupATCTATCTATCTATCTATCTATC	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	2/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186326397	T T	TCAAAAAA others(16): Show TCAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG03041.hp1 HG01884.hp2 HG02723.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0001 a0001c0009 a0002c0001	a0001c0009t0011 a0002c0001t0003 a0002c0001t0011 a0001c0009t0011 a0002c0001t0003 a0002c0001t0011	a0001c0009t0011g0230 a0002c0001t0003g0217 a0002c0001t0011g0229 a0001c0009t0011g0230 a0002c0001t0003g0217 a0002c0001t0011g0229	3	234	0.0128	23	c.-24 others(42): Show c.-248-5691_-248-5690insTTTTTTTTTTTTTTTTTTTTTTG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42135507	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG03704.hp2 others(1): Show HG00735.hp1 HG00741.hp1 HG03704.hp2 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0022 a0001c0006t0036 a0001c0006t0017 a0001c0006t0022 a0001c0006t0036	a0001c0006t0017g0111 a0001c0006t0017g0112 a0001c0006t0022g0038 others(1): Show a0001c0006t0017g0111 a0001c0006t0017g0112 a0001c0006t0022g0038 a0001c0006t0036g0189	4	316	0.0127	23	c.384 others(40): Show c.384+5876_384+5877insAAAAAAAAAAAAAAAAAAAAAGA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0006 a0001c0010t0009 a0001c0005t0006 a0001c0010t0009	a0001c0005t0006g0019 a0001c0010t0009g0032 a0001c0005t0006g0019 a0001c0010t0009g0032	2	94	0.0213	23	c.993 others(40): Show c.993+1672_993+1673insAAATATATATATATATATATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar

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