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
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0179 a0003c0004t0002g0179	1	198	0.0051	32	c.791 others(47): Show c.791-185_791-184insAAAAAATATATATATATATATATATATATA TA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03098.hp2 HG03195.hp1 HG01346.hp1 HG03098.hp2 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0003 a0003c0004t0002 a0001c0003t0003 a0003c0004t0002	a0001c0003t0003g0020 a0003c0004t0002g0146 a0003c0004t0002g0174 a0001c0003t0003g0020 a0003c0004t0002g0146 a0003c0004t0002g0174	3	198	0.0152	32	c.791 others(47): Show c.791-185_791-184insAAAATATATATATATATATATATATATATA TA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0119 a0003c0004t0002g0119	1	198	0.0051	32	c.791 others(47): Show c.791-185_791-184insAATATATATATATATATATATATATATATA TA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DERL2_chr17_5466254_5491178	5486363	C C	CCCCACCG others(25): Show CCCCACCGGGGCCCCCCCCCCCTCCGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	428	0.0023	32	c.-20 others(41): Show c.-203_-202insTGGGGGGCGGAGGGGGGGGGGGCCCCGGTGGG	DERL2	ENSG00000072849.11	transcript	ENST00000158771.9	protein_coding		186		chr17	TogoVar
DGCR2_chr22_19031286_19127412	19062779	A A	ACTCTCTC others(25): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01433.hp2 HG03942.hp1 others(2): Show HG01169.hp1 HG01433.hp2 HG03942.hp1 NA18945.hp2 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0017 a0002c0002t0018 others(1): Show a0002c0002t0002 a0002c0002t0017 a0002c0002t0018 a0002c0002t0041	a0002c0002t0002g0164 a0002c0002t0017g0160 a0002c0002t0018g0150 others(2): Show a0002c0002t0002g0164 a0002c0002t0017g0160 a0002c0002t0018g0150 a0002c0002t0018g0158 a0002c0002t0041g0166	5	344	0.0145	32	c.625 others(47): Show c.625+422_625+423insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(25): Show TGTGTGTGTGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG06807.hp1 HG01074.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0030 a0002c0003t0002g0008 a0001c0001t0001g0030 a0002c0003t0002g0008	2	392	0.0051	32	c.-28 others(43): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGCGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0039 a0005c0007t0001g0039	1	392	0.0026	32	c.-28 others(43): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCGCACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	392	0.0026	32	c.-28 others(43): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	32	c.-28 others(43): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG01261.hp2 others(5): Show HG00738.hp1 HG01109.hp2 HG01261.hp2 HG02895.hp2 HG02965.hp1 NA18940.hp1 NA18973.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0040 a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0040	8	392	0.0204	32	c.-28 others(43): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	32	c.-28 others(43): Show c.-2845_-2844insGCGTGCGCGCGCGCGCACACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	392	0.0026	32	c.-28 others(43): Show c.-2845_-2844insGCATGCGCGCGCGCGCACACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	32	c.-28 others(43): Show c.-2845_-2844insGCGCGCGCGCGCGCGCACACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKG_chr3_186142201_186367234	186223011	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00673.hp1 others(9): Show HG00280.hp1 HG00438.hp1 HG00673.hp1 HG01496.hp2 HG01978.hp1 HG02132.hp2 HG02165.hp1 HG03834.hp1 NA18964.hp1 NA18990.hp1 NA18990.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0001 a0002c0005 others(3): Show a0001c0002 a0002c0001 a0002c0005 a0003c0004 a0003c0006 a0004c0008	a0001c0002t0010 a0001c0002t0018 a0002c0001t0001 others(6): Show a0001c0002t0010 a0001c0002t0018 a0002c0001t0001 a0002c0001t0004 a0002c0001t0010 a0002c0005t0004 a0003c0004t0029 a0003c0006t0013 a0004c0008t0009	a0001c0002t0010g0188 a0001c0002t0010g0215 a0001c0002t0018g0105 others(9): Show a0001c0002t0010g0188 a0001c0002t0010g0215 a0001c0002t0018g0105 a0002c0001t0001g0014 a0002c0001t0001g0121 a0002c0001t0001g0151 a0002c0001t0004g0155 a0002c0001t0010g0206 a0002c0005t0004g0066 a0003c0004t0029g0016 a0003c0006t0013g0021 a0004c0008t0009g0185	12	234	0.0513	32	c.182 others(53): Show c.1827-11127_1827-11126insTATATATATATATATATATATATA TATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186299838	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0108 a0001c0003t0005g0108	1	234	0.0043	32	c.145 others(49): Show c.145-1610_145-1609insGGAAGGAAAGAAAGAAAGAAAGAAAGAA AGAA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42151501	G G	GTATACAC others(25): Show GTATACACATGTATATATATACACGTGTATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 NA18948.hp2 others(4): Show HG00558.hp2 HG00621.hp1 NA18948.hp2 NA18963.hp2 NA18983.hp1 NA18988.hp1 NA19077.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0018 a0009c0021 a0001c0001 a0001c0018 a0009c0021	a0001c0001t0001 a0001c0001t0061 a0001c0001t0085 others(2): Show a0001c0001t0001 a0001c0001t0061 a0001c0001t0085 a0001c0018t0032 a0009c0021t0032	a0001c0001t0001g0130 a0001c0001t0001g0249 a0001c0001t0001g0299 others(4): Show a0001c0001t0001g0130 a0001c0001t0001g0249 a0001c0001t0001g0299 a0001c0001t0061g0078 a0001c0001t0085g0266 a0001c0018t0032g0215 a0009c0021t0032g0265	7	316	0.0222	32	c.385 others(49): Show c.385-3789_385-3788insATACACATGTATATATATACACGTGTAT ATAT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02083.hp2 NA18986.hp2 NA19077.hp1 HG02083.hp2 NA18986.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0005 a0001c0001t0085 a0001c0008t0052 a0001c0001t0005 a0001c0001t0085 a0001c0008t0052	a0001c0001t0005g0068 a0001c0001t0085g0266 a0001c0008t0052g0070 a0001c0001t0005g0068 a0001c0001t0085g0266 a0001c0008t0052g0070	3	316	0.0095	32	c.623 others(43): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG04204.hp1 HG02145.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0032 a0001c0007t0048 a0001c0001t0032 a0001c0007t0048	a0001c0001t0032g0038 a0001c0007t0048g0081 a0001c0001t0032g0038 a0001c0007t0048g0081	2	94	0.0213	32	c.993 others(49): Show c.993+1672_993+1673insAAAAAATATATATATATATATATATATA TATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18906.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0009 a0001c0006 a0001c0009	a0001c0006t0013 a0001c0009t0040 a0001c0006t0013 a0001c0009t0040	a0001c0006t0013g0007 a0001c0009t0040g0086 a0001c0006t0013g0007 a0001c0009t0040g0086	2	94	0.0213	32	c.993 others(49): Show c.993+1672_993+1673insAAAAAAAAAAAATATATATATATATATA TATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DHODH_chr16_72003744_72032659	72020329	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0196 a0001c0001t0008g0196	1	414	0.0024	32	c.518 others(47): Show c.518-770_518-769insATGTGTATATATATATATATATATATATAT AT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHODH_chr16_72003744_72032659	72020333	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp1 HG03130.hp1 HG02717.hp2 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0073 a0001c0001t0010 a0001c0001t0073	a0001c0001t0010g0038 a0001c0001t0010g0151 a0001c0001t0073g0038 a0001c0001t0010g0038 a0001c0001t0010g0151 a0001c0001t0073g0038	3	414	0.0073	32	c.518 others(47): Show c.518-770_518-769insATATATATGTGTATATATATATATATATAT AT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHRS4L2_chr14_23983929_24011403	24001957	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02683.hp1 HG03710.hp2 others(1): Show HG01167.hp2 HG02683.hp1 HG03710.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0024 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0005g0017	4	32	0.1250	32	c.665 others(47): Show c.665+456_665+457insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DHRS4L2	ENSG00000187630.18	transcript	ENST00000335125.11	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRS7B_chr17_21121964_21196420	21187094	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	382	0.0026	32	c.620 others(49): Show c.620-1598_620-1597insTATATATATATATATATATATATATATA TATA	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS7C_chr17_9766438_9796592	9768850	C C	CTTATTTA others(25): Show CTTATTTATTTATTTATTTATTTATTTATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02683.hp2 HG02698.hp2 others(3): Show HG00408.hp1 HG02683.hp2 HG02698.hp2 HG03710.hp2 NA19002.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0115 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0115 a0001c0001t0001g0232 a0002c0002t0001g0046	6	424	0.0142	32	c.26 others(43): Show c.2637_*2638insATAAATAAATAAATAAATAAATAAATAAATAA	DHRS7C	ENSG00000184544.12	transcript	ENST00000571134.2	protein_coding		2587		chr17	TogoVar
DHRSX_chrX_2214506_2505976	2314429	A A	AGAAGGGA others(25): Show AGAAGGGAGGAAGGAAGGGGAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02300.hp1 NA18612.hp1 others(3): Show HG02004.hp1 HG02300.hp1 NA18612.hp1 NA18948.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0003 a0003c0003t0002 a0002c0002t0003 a0003c0003t0002	a0002c0002t0003g0002 a0002c0002t0003g0017 a0002c0002t0003g0042 others(3): Show a0002c0002t0003g0002 a0002c0002t0003g0017 a0002c0002t0003g0042 a0002c0002t0003g0045 a0002c0002t0003g0050 a0003c0003t0002g0013	6	50	0.1200	32	c.287 others(51): Show c.287-22827_287-22826insCTTCCTTCCTTCTCCCCTTCCTTCCT CCCTTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2341744	C C	CCCTGATA others(25): Show CCCTGATAAGAAATAAAATATTACAAAATGCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01261.hp1 others(24): Show HG00280.hp1 HG01167.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02293.hp1 HG02300.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03491.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18948.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011	a0001c0001 a0002c0002 a0002c0005 others(9): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0003c0016 a0004c0004 a0005c0006 a0005c0008 a0006c0013 a0007c0009 a0008c0010 a0011c0007	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(13): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0005t0008 a0003c0003t0002 a0003c0016t0002 a0004c0004t0001 a0005c0006t0004 a0005c0008t0006 a0006c0013t0015 a0007c0009t0013 a0008c0010t0014 a0011c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0037 others(24): Show a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0011g0022 a0001c0001t0012g0027 a0002c0002t0002g0016 a0002c0002t0003g0002 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0042 a0002c0002t0003g0045 a0002c0002t0003g0050 a0002c0002t0004g0031 a0002c0002t0004g0035 a0002c0005t0008g0010 a0003c0003t0002g0013 a0003c0003t0002g0018 a0003c0003t0002g0043 a0003c0016t0002g0040 a0004c0004t0001g0048 a0005c0006t0004g0034 a0005c0008t0006g0001 a0006c0013t0015g0011 a0007c0009t0013g0005 a0008c0010t0014g0046 a0011c0007t0001g0028	27	50	0.5400	32	c.287 others(51): Show c.287-50173_287-50142dupAAGCATTTTGTAATATTTTATTTCTT ATCAGG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2363706	T T	TCCATTTT others(25): Show TCCATTTTATCACCGTTCTATGGTATCATGCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02004.hp1 HG03491.hp2 others(6): Show HG00280.hp1 HG02004.hp1 HG03491.hp2 HG03710.hp1 NA18612.hp1 NA18747.hp1 NA18948.hp1 NA19005.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0003 a0003c0003t0002 a0001c0001t0001 a0002c0002t0003 a0003c0003t0002	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0039 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0049 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0045 a0002c0002t0003g0050 a0003c0003t0002g0013	9	50	0.1800	32	c.286 others(51): Show c.286+45038_286+45039insCGGCATGATACCATAGAACGGTGATA AAATGG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2363719	C C	CGTTCTAT others(25): Show CGTTCTATGGTATCATGCCACCATTTTATCACT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp1 HG02647.hp1 others(1): Show HG02486.hp2 HG02630.hp1 HG02647.hp1 HG03098.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0005 a0004c0004 a0001c0001 a0002c0005 a0004c0004	a0001c0001t0001 a0002c0005t0004 a0002c0005t0008 others(1): Show a0001c0001t0001 a0002c0005t0004 a0002c0005t0008 a0004c0004t0009	a0001c0001t0001g0003 a0002c0005t0004g0004 a0002c0005t0008g0010 others(1): Show a0001c0001t0001g0003 a0002c0005t0004g0004 a0002c0005t0008g0010 a0004c0004t0009g0032	4	50	0.0800	32	c.286 others(51): Show c.286+45025_286+45026insAGTGATAAAATGGTGGCATGATACCA TAGAAC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12090428	T T	TTTTCCTT others(25): Show TTTTCCTTCCTTCCTTCCTTTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0227 a0003c0003t0019g0227	1	374	0.0027	32	c.988 others(49): Show c.988-1083_988-1082insTCCTTCCTTCCTTCCTTTTTCCTTCCTT CCTT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHX9_chr1_182834347_182892982	182868520	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0043 a0001c0002t0003g0043	1	276	0.0036	32	c.155 others(51): Show c.1557+1490_1557+1491insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02738.hp1 HG02486.hp2 HG02738.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0288 a0004c0006t0001g0122 a0001c0001t0001g0288 a0004c0006t0001g0122	2	336	0.0060	32	c.118 others(49): Show c.118-3477_118-3446dupATATATATATATATATATATATATATAT ATAT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	336	0.0030	32	c.118 others(49): Show c.118-3463_118-3462insAATATATATAAATATATATATATATATA TATA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96939484	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0008 a0001c0001t0002g0009	2	147	0.0136	32	c.132 others(49): Show c.1325+103_1325+104insGTGTATATATATATATATATATGTATAT ATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97200438	A A	ACTGGCTT others(25): Show ACTGGCTTGACATTCTCGCTGCCAGCACAGCAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(142): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0002c0006 a0003c0008 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0002t0001 a0001c0002t0004 a0001c0002t0021 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0007t0005 a0001c0009t0001 a0002c0006t0001 a0003c0008t0002 a0004c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(142): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0003g0006 a0001c0001t0003g0025 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0004g0108 a0001c0001t0004g0137 a0001c0001t0004g0147 a0001c0001t0005g0040 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0006g0005 a0001c0001t0006g0056 a0001c0001t0007g0049 a0001c0001t0007g0101 a0001c0001t0008g0021 a0001c0001t0008g0041 a0001c0001t0009g0036 a0001c0001t0009g0099 a0001c0001t0010g0028 a0001c0001t0010g0094 a0001c0001t0011g0001 a0001c0001t0011g0002 a0001c0001t0012g0003 a0001c0001t0012g0143 a0001c0001t0014g0012 a0001c0001t0015g0144 a0001c0001t0016g0125 a0001c0001t0017g0086 a0001c0001t0018g0083 a0001c0001t0019g0102 a0001c0001t0020g0146 a0001c0001t0022g0112 a0001c0001t0023g0070 a0001c0002t0001g0015 a0001c0002t0004g0013 a0001c0002t0021g0076 a0001c0003t0001g0136 a0001c0003t0003g0081 a0001c0003t0003g0145 a0001c0004t0001g0140 a0001c0005t0001g0061 a0001c0007t0005g0131 a0001c0009t0001g0007 a0002c0006t0001g0130 a0003c0008t0002g0097 a0004c0010t0001g0016	145	147	0.9864	32	c.272 others(53): Show c.2720-47277_2720-47276insCTGGCTTGACATTCTCGCTGCCAG CACAGCAG	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26			chrX	TogoVar
DIAPH3_chr13_59660583_60168928	60156918	C C	CACATATA others(25): Show CACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG03139.hp2 others(1): Show HG00738.hp1 HG01109.hp2 HG03139.hp2 HG04115.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0002 a0001c0001t0007 a0006c0011t0002 a0001c0001t0002 a0001c0001t0007 a0006c0011t0002	a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0007g0133 others(1): Show a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0007g0133 a0006c0011t0002g0097	4	208	0.0192	32	c.180 others(49): Show c.180+6668_180+6669insATATATATATATATATATATATATATAT ATGT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00621.hp1 others(15): Show HG00140.hp2 HG00323.hp1 HG00621.hp1 HG01106.hp1 HG02258.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp2 HG03209.hp2 NA18946.hp2 NA18953.hp1 NA18975.hp2 NA18977.hp1 NA19000.hp2 NA19004.hp1 NA19068.hp1 NA19080.hp1 NA21309.hp2	a0001 a0003 a0024 others(1): Show a0001 a0003 a0024 a0027	a0001c0001 a0003c0003 a0003c0043 others(2): Show a0001c0001 a0003c0003 a0003c0043 a0024c0040 a0027c0035	a0001c0001t0001 a0001c0001t0006 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0006 a0003c0003t0001 a0003c0043t0001 a0024c0040t0001 a0027c0035t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0006g0099 a0003c0003t0001g0026 a0003c0003t0001g0229 a0003c0003t0001g0235 a0003c0003t0001g0237 a0003c0003t0001g0239 a0003c0003t0001g0243 a0003c0043t0001g0234 a0024c0040t0001g0244 a0027c0035t0001g0070	18	320	0.0563	32	c.-34 others(43): Show c.-3455_-3454insTATATATATATATATATATATATATATATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62929695	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	320	0.0031	32	c.-34 others(43): Show c.-3457_-3456insTATATATATATATATATATATATATATATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3191		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50501219	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0099 a0001c0001t0022g0099	1	284	0.0035	32	c.-39 others(43): Show c.-3922_-3921insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding		3765		chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(25): Show TCTCCCCTCCCCTCCTCTCCCCTCCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp2 HG02055.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0181 a0001c0001t0008g0261 a0001c0001t0008g0181 a0001c0001t0008g0261	2	284	0.0070	32	c.101 others(51): Show c.101-32146_101-32145insTCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	619532	C C	CAGGGCCA others(25): Show CAGGGCCAGGGCCAGGGCCAGGGCCAGGGCCAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02027.hp1 HG01952.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0005 a0001c0008t0001 a0001c0001t0005 a0001c0008t0001	a0001c0001t0005g0024 a0001c0008t0001g0019 a0001c0001t0005g0024 a0001c0008t0001g0019	2	88	0.0227	32	c.85+ others(49): Show c.85+69961_85+69962insTTGGCCCTGGCCCTGGCCCTGGCCCTGG CCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	88	0.0114	32	c.85+ others(49): Show c.85+14704_85+14705insCTCTCTCTCTCTCTCTCTCTCTATATAT ATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(25): Show TATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	88	0.0114	32	c.85+ others(49): Show c.85+14704_85+14705insCTCTCTCTCTATATATATATATATATAT ATAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92846835	A A	ACACACAC others(25): Show ACACACACACGTATATATATATATACACACACG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	200	0.0050	32	c.474 others(47): Show c.474+347_474+348insCGTGTGTGTATATATATATATACGTGTGTG TG	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	4/4			chr1	TogoVar
DIPK2A_chr3_143966823_143997368	143967802	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0216 a0001c0002t0004g0216	1	408	0.0025	32	c.-45 others(43): Show c.-4531_-4530insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding		4020		chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143976555	T T	TGTGTGAG others(25): Show TGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0246 a0001c0001t0007g0246	1	408	0.0025	32	c.657 others(49): Show c.657+3567_657+3568insTGTGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIS3L2_chr2_231956713_232342192	232086609	G G	GTGTATAT others(25): Show GTGTATATATATATATATACACACATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0006 a0001c0018t0001g0006	1	304	0.0033	32	c.367 others(47): Show c.367-875_367-874insATATATATATATATACACACATATATATAT GT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086615	A A	ATATATAT others(25): Show ATATATATATATATACACATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02970.hp2 others(3): Show HG02895.hp1 HG02897.hp1 HG02970.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0206 others(3): Show a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209	6	304	0.0197	32	c.367 others(47): Show c.367-843_367-842insATGTATATATATATATACACATATATATAT AT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086659	A A	ACACATAT others(25): Show ACACATATATATATATGTATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp2 HG03130.hp2 others(1): Show HG02723.hp1 HG02965.hp2 HG03130.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0228 others(1): Show a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0228 a0002c0004t0001g0191	4	304	0.0132	32	c.367 others(47): Show c.367-828_367-827insCACATATATATATATGTATATATATATATA TG	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20			chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086659	A A	ACACATAT others(25): Show ACACATATATATATGTATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp2 HG03471.hp1 HG02486.hp1 HG02895.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0164 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0164	3	304	0.0099	32	c.367 others(47): Show c.367-828_367-827insCACATATATATATGTATATATATATATGTG TG	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20			chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086659	A A	ACACATAT others(25): Show ACACATATATATATGTATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	304	0.0033	32	c.367 others(47): Show c.367-828_367-827insCACATATATATATGTATATATATATGTGTG TG	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20			chr2	TogoVar

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