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
DPYSL5_chr2_26843132_26955351	26936945	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00558.hp2 others(57): Show HG00099.hp2 HG00280.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG02004.hp2 HG02083.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02809.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03831.hp2 HG04204.hp2 NA18906.hp1 NA18939.hp1 NA18973.hp1 NA18975.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19080.hp1 NA19082.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0024 a0001c0001t0033 others(12): Show a0001c0001t0012 a0001c0001t0024 a0001c0001t0033 a0001c0001t0034 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0030	a0001c0001t0012g0030 a0001c0001t0012g0048 a0001c0001t0012g0051 others(57): Show a0001c0001t0012g0030 a0001c0001t0012g0048 a0001c0001t0012g0051 a0001c0001t0012g0055 a0001c0001t0024g0036 a0001c0001t0024g0049 a0001c0001t0033g0052 a0001c0001t0034g0054 a0001c0002t0002g0045 a0001c0002t0002g0082 a0001c0002t0002g0085 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0140 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0163 a0001c0002t0002g0198 a0001c0002t0002g0212 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0004g0118 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0004g0143 a0001c0002t0004g0158 a0001c0002t0006g0126 a0001c0002t0006g0130 a0001c0002t0011g0060 a0001c0002t0011g0061 a0001c0002t0011g0062 a0001c0002t0011g0063 a0001c0002t0014g0050 a0001c0002t0015g0042 a0001c0002t0015g0043 a0001c0002t0017g0159 a0001c0002t0018g0175 a0001c0002t0019g0122 a0001c0002t0020g0057 a0001c0002t0020g0058 a0001c0002t0030g0056	60	232	0.2586	14	c.947 others(31): Show c.947+2214_947+2227dupAAAAAAAAAAAAAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYS_chr8_104374431_104472055	104381852	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG01175.hp2 others(7): Show HG00099.hp2 HG00621.hp2 HG01175.hp2 HG01496.hp1 HG02698.hp1 HG03490.hp1 HG03704.hp1 NA18612.hp2 NA19000.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0001t0001g0111 others(7): Show a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0001t0001g0148 a0001c0001t0002g0297 a0001c0001t0002g0304 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0002t0001g0246 a0001c0003t0001g0027	10	380	0.0263	14	c.144 others(31): Show c.1444-552_1444-539dupTGTGTGTGTGTGTG	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	8/9			chr8	TogoVar
DRAM1_chr12_101872580_101928612	101904426	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0353 a0001c0001t0004g0353	1	396	0.0025	14	c.342 others(31): Show c.342+2993_342+2994insTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	3/6			chr12	TogoVar
DRAXIN_chr1_11686710_11730857	11727667	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01243.hp2 HG01516.hp1 others(9): Show HG00558.hp2 HG01243.hp2 HG01516.hp1 HG01517.hp2 HG02738.hp2 HG03098.hp1 HG03490.hp1 HG03492.hp1 NA18941.hp1 NA18941.hp2 NA18983.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0061 a0001c0001t0095 a0002c0002t0002	a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0033 others(8): Show a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0046 a0001c0001t0006g0179 a0001c0001t0006g0267 a0001c0001t0010g0008 a0001c0001t0010g0244 a0001c0001t0061g0335 a0001c0001t0095g0092 a0002c0002t0002g0172	12	398	0.0302	14	c.79 others(25): Show c.7971_*7972insGTGTGTGTGTGTGT	DRAXIN	ENSG00000162490.7	transcript	ENST00000294485.6	protein_coding		1811		chr1	TogoVar
DRAXIN_chr1_11686710_11730857	11727668	A A	ATATGTGT others(7): Show ATATGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG04184.hp1 NA18944.hp1 others(8): Show HG00280.hp1 HG04184.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18966.hp1 NA18966.hp2 NA18981.hp1 NA19009.hp1 NA19009.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0062 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0062 a0001c0005t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0059 a0002c0002t0066	a0001c0001t0001g0058 a0001c0001t0001g0206 a0001c0001t0062g0331 others(7): Show a0001c0001t0001g0058 a0001c0001t0001g0206 a0001c0001t0062g0331 a0001c0005t0001g0110 a0002c0002t0001g0023 a0002c0002t0001g0129 a0002c0002t0001g0137 a0002c0002t0005g0026 a0002c0002t0059g0159 a0002c0002t0066g0144	11	398	0.0276	14	c.79 others(25): Show c.7972_*7973insTATGTGTGTGTGTG	DRAXIN	ENSG00000162490.7	transcript	ENST00000294485.6	protein_coding		1812		chr1	TogoVar
DRC1_chr2_26396920_26461711	26398037	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0196 a0010c0013t0001g0196	1	384	0.0026	14	c.-39 others(25): Show c.-3953_-3952insTTTTTTTTTTTTTT	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding		3882		chr2	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp2 HG02886.hp2 HG02976.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0008c0012t0001 a0001c0001t0001 a0008c0012t0001	a0001c0001t0001g0315 a0008c0012t0001g0257 a0001c0001t0001g0315 a0008c0012t0001g0257	2	384	0.0052	14	c.889 others(29): Show c.889-454_889-441dupTATATATATATATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC3_chr17_17967862_18021889	17994218	A A	AGCATGGC others(7): Show AGCATGGCAGAGGCG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01099.hp2 others(8): Show HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01192.hp2 HG02109.hp2 HG02486.hp1 HG02615.hp2 HG03195.hp1 HG03471.hp2 NA18906.hp1 NA20129.hp1	a0003 a0016 a0003 a0016	a0003c0003 a0016c0017 a0003c0003 a0016c0017	a0003c0003t0002 a0003c0003t0006 a0003c0003t0007 others(1): Show a0003c0003t0002 a0003c0003t0006 a0003c0003t0007 a0016c0017t0002	a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 others(7): Show a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0122 a0003c0003t0002g0123 a0003c0003t0002g0142 a0003c0003t0006g0118 a0003c0003t0007g0008 a0003c0003t0007g0125 a0016c0017t0002g0124	11	324	0.0340	14	c.592 others(27): Show c.592-65_592-52dupCATGGCAGAGGCGG	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRC3_chr17_17967862_18021889	18019147	C C	CCACACAC others(7): Show CCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01993.hp2 NA19066.hp1 others(1): Show HG01192.hp2 HG01993.hp2 NA19066.hp1 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0002 a0001c0001t0001 a0001c0001t0003 a0003c0003t0002	a0001c0001t0001g0251 a0001c0001t0003g0282 a0001c0001t0003g0283 others(1): Show a0001c0001t0001g0251 a0001c0001t0003g0282 a0001c0001t0003g0283 a0003c0003t0002g0122	4	324	0.0124	14	c.24 others(25): Show c.2476_*2477insCACACACACACACA	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding		2259		chr17	TogoVar
DRC7_chr16_57689806_57736805	57704376	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02451.hp1 HG02486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0067 a0004c0005t0001g0291 a0004c0005t0001g0067 a0004c0005t0001g0291	2	388	0.0052	14	c.700 others(29): Show c.700-483_700-470dupACACACACACACAC	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRD1_chr5_175435036_175449182	175446090	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0023 a0001c0001t0021g0023	1	490	0.0020	14	c.-28 others(25): Show c.-2876_-2875insTTTTTTTTTTTTTT	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		1909		chr5	TogoVar
DRD1_chr5_175435036_175449182	175446106	A A	AAAAAAAA others(7): Show AAAAAAAAACAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	490	0.0020	14	c.-28 others(25): Show c.-2892_-2891insGTTTTGTTTTTTTT	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		1925		chr5	TogoVar
DRD1_chr5_175435036_175449182	175446106	A A	AAAAAAAA others(7): Show AAAAAAAACAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	490	0.0020	14	c.-28 others(25): Show c.-2892_-2891insGTTTTTGTTTTTTT	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		1925		chr5	TogoVar
DRD2_chr11_113404605_113480398	113452435	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0297 a0001c0003t0002g0297	1	340	0.0029	14	c.-32 others(33): Show c.-32+22627_-32+22640dupACACACACACACAC	DRD2	ENSG00000149295.14	transcript	ENST00000362072.8	protein_coding	1/7			chr11	TogoVar
DRD2_chr11_113404605_113480398	113452469	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02622.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0160 a0001c0002t0003g0088 a0001c0001t0001g0160 a0001c0002t0003g0088	2	340	0.0059	14	c.-32 others(33): Show c.-32+22606_-32+22607insGCGCACACACACAC	DRD2	ENSG00000149295.14	transcript	ENST00000362072.8	protein_coding	1/7			chr11	TogoVar
DRD2_chr11_113404605_113480398	113452469	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0020 a0001c0001t0014g0020	1	340	0.0029	14	c.-32 others(33): Show c.-32+22606_-32+22607insGCACACACACACAC	DRD2	ENSG00000149295.14	transcript	ENST00000362072.8	protein_coding	1/7			chr11	TogoVar
DRD2_chr11_113404605_113480398	113476120	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	340	0.0029	14	c.-10 others(25): Show c.-1077_-1076insAAGAAAGAAAGAAA	DRD2	ENSG00000149295.14	transcript	ENST00000362072.8	protein_coding		723		chr11	TogoVar
DRD3_chr3_114122580_114184052	114155177	C C	CGTGAATG others(7): Show CGTGAATGACTGCAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0336 a0001c0002t0004g0336	1	360	0.0028	14	c.383 others(31): Show c.383+4564_383+4577dupATGCAGTCATTCAC	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DRD3_chr3_114122580_114184052	114156743	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02015.hp2 HG03834.hp1 others(1): Show HG01517.hp2 HG02015.hp2 HG03834.hp1 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0004 a0002c0001t0001 a0002c0001t0003 a0001c0002t0004 a0002c0001t0001 a0002c0001t0003	a0001c0002t0004g0043 a0002c0001t0001g0195 a0002c0001t0003g0199 others(1): Show a0001c0002t0004g0043 a0002c0001t0001g0195 a0002c0001t0003g0199 a0002c0001t0003g0203	4	360	0.0111	14	c.383 others(31): Show c.383+3011_383+3012insGAAAGAAAGAAAGA	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DRD3_chr3_114122580_114184052	114164220	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG06807.hp2 HG01109.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0003 a0001c0008t0008 a0001c0002t0003 a0001c0008t0008	a0001c0002t0003g0296 a0001c0008t0008g0027 a0001c0002t0003g0296 a0001c0008t0008g0027	2	360	0.0056	14	c.271 others(31): Show c.271-4367_271-4354dupTTTTTTTTTTTTTT	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	2/6			chr3	TogoVar
DRG2_chr17_18082948_18112969	18090368	T T	TTATTTAT others(7): Show TTATTTATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp2 HG00323.hp1 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0100 a0001c0002t0002g0095 a0001c0002t0002g0100	2	418	0.0048	14	c.64+ others(29): Show c.64+2284_64+2285insTTATATATATATAT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRG2_chr17_18082948_18112969	18090406	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0107	1	418	0.0024	14	c.64+ others(29): Show c.64+2320_64+2321insATATATATTTTTTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DROSHA_chr5_31395494_31537093	31397451	C C	CATATATA others(7): Show CATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0293 a0003c0006t0003g0293	1	322	0.0031	14	c.39 others(25): Show c.3980_*3981insATATATATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3042		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31397452	T T	TTATATAT others(7): Show TTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA18970.hp1 NA18971.hp2 others(1): Show HG02071.hp2 NA18970.hp1 NA18971.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0130 a0001c0002t0001g0143 a0001c0002t0001g0165 others(1): Show a0001c0002t0001g0130 a0001c0002t0001g0143 a0001c0002t0001g0165 a0002c0005t0001g0258	4	322	0.0124	14	c.39 others(25): Show c.3979_*3980insTATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3041		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31399381	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01106.hp2 HG01261.hp1 others(4): Show HG00323.hp1 HG01106.hp2 HG01261.hp1 HG02647.hp2 HG04228.hp1 NA18981.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0002c0004t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0002c0004t0002 a0002c0004t0004 a0002c0004t0010	a0001c0001t0002g0002 a0001c0001t0003g0286 a0002c0004t0002g0035 others(4): Show a0001c0001t0002g0002 a0001c0001t0003g0286 a0002c0004t0002g0035 a0002c0004t0002g0155 a0002c0004t0004g0014 a0002c0004t0004g0022 a0002c0004t0010g0251	7	322	0.0217	14	c.20 others(25): Show c.2050_*2051insCACACACACACACA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		1112		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31446446	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0298 a0001c0011t0002g0298	1	322	0.0031	14	c.288 others(33): Show c.2882+2087_2882+2100dupTTTTTTTTTTTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	23/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31480178	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02129.hp1 HG03579.hp2 others(1): Show HG00323.hp1 HG02129.hp1 HG03579.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0026 others(1): Show a0001c0001 a0001c0003 a0001c0026 a0002c0004	a0001c0001t0002 a0001c0003t0003 a0001c0026t0002 others(1): Show a0001c0001t0002 a0001c0003t0003 a0001c0026t0002 a0002c0004t0002	a0001c0001t0002g0034 a0001c0003t0003g0033 a0001c0026t0002g0091 others(1): Show a0001c0001t0002g0034 a0001c0003t0003g0033 a0001c0026t0002g0091 a0002c0004t0002g0035	4	322	0.0124	14	c.207 others(33): Show c.2071+3362_2071+3375dupTATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	16/35			chr5	TogoVar
DSC1_chr18_31124236_31167856	31159047	G G	GTTTTGTT others(7): Show GTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18951.hp2 NA19087.hp2 HG02027.hp1 NA18951.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0001 a0001c0003t0002 a0002c0006t0001 a0001c0003t0001 a0001c0003t0002 a0002c0006t0001	a0001c0003t0001g0118 a0001c0003t0002g0135 a0002c0006t0001g0136 a0001c0003t0001g0118 a0001c0003t0002g0135 a0002c0006t0001g0136	3	378	0.0079	14	c.148 others(29): Show c.148+397_148+398insAAAAAAAAACAAAA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31159047	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(87): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02135.hp2 HG02145.hp2 HG02273.hp1 HG02523.hp1 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02897.hp2 HG03209.hp1 HG03239.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp2 NA18955.hp1 NA18956.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA19001.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0018 a0002c0002 a0002c0005 a0002c0006 a0003c0014 a0003c0019 a0003c0021 a0005c0025	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 others(14): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0008t0001 a0001c0009t0010 a0001c0009t0016 a0001c0018t0002 a0002c0002t0001 a0002c0005t0001 a0002c0006t0001 a0003c0014t0004 a0003c0019t0005 a0003c0021t0006 a0005c0025t0002	a0001c0001t0002g0165 a0001c0001t0002g0266 a0001c0001t0002g0267 others(72): Show a0001c0001t0002g0165 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0003t0001g0124 a0001c0003t0001g0129 a0001c0003t0002g0022 a0001c0003t0002g0029 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0003g0028 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0197 a0001c0004t0001g0026 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0174 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0179 a0001c0004t0001g0194 a0001c0004t0002g0178 a0001c0004t0002g0185 a0001c0004t0002g0186 a0001c0004t0002g0188 a0001c0004t0002g0189 a0001c0004t0002g0190 a0001c0004t0002g0191 a0001c0004t0002g0192 a0001c0008t0001g0044 a0001c0009t0010g0322 a0001c0009t0016g0038 a0001c0018t0002g0173 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0117 a0002c0002t0001g0123 a0002c0002t0001g0139 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0169 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0187 a0002c0002t0001g0193 a0002c0002t0001g0264 a0002c0005t0001g0269 a0002c0006t0001g0122 a0002c0006t0001g0128 a0002c0006t0001g0130 a0003c0014t0004g0142 a0003c0014t0004g0157 a0003c0019t0005g0201 a0003c0021t0006g0323 a0005c0025t0002g0125	90	378	0.2381	14	c.148 others(29): Show c.148+384_148+397dupAAAAAAAAAAAAAA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31159049	T T	TTTTTTGT others(7): Show TTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0306 a0001c0009t0001g0306	1	378	0.0027	14	c.148 others(29): Show c.148+395_148+396insCAAACAAACAAAAA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31159049	T T	TTTTTTTT others(7): Show TTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp2 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0305 a0001c0009t0001g0307 a0001c0009t0001g0305 a0001c0009t0001g0307	2	378	0.0053	14	c.148 others(29): Show c.148+395_148+396insCAAACAAAAAAAAA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31159053	T T	TTTTTTGT others(7): Show TTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0314 a0003c0007t0006g0314	1	378	0.0027	14	c.148 others(29): Show c.148+391_148+392insCAAACAAACAAAAA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	30996004	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0111 a0004c0008t0111	a0004c0008t0111g0229 a0004c0008t0111g0229	1	392	0.0026	14	c.249 others(31): Show c.2493+786_2493+787insCTTTTTTTTTTTTT	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	15/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31001089	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19007.hp1 NA19085.hp1 NA18944.hp2 NA19007.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0041 a0001c0001t0002 a0001c0001t0041	a0001c0001t0002g0364 a0001c0001t0041g0345 a0001c0001t0041g0346 a0001c0001t0002g0364 a0001c0001t0041g0345 a0001c0001t0041g0346	3	392	0.0077	14	c.223 others(31): Show c.2235+528_2235+529insTATATATATATACA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	14/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31036798	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00639.hp1 others(40): Show HG00423.hp2 HG00438.hp1 HG00639.hp1 HG00738.hp2 HG01346.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02083.hp2 HG02148.hp1 HG02257.hp2 HG02630.hp1 HG02818.hp1 HG02922.hp1 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp2 HG03704.hp2 HG03710.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18942.hp2 NA18949.hp2 NA18959.hp2 NA18986.hp2 NA18993.hp1 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19007.hp2 NA19058.hp2 NA19079.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0013	a0001c0004 a0002c0002 a0002c0003 others(3): Show a0001c0004 a0002c0002 a0002c0003 a0002c0012 a0007c0017 a0013c0013	a0001c0004t0063 a0002c0002t0001 a0002c0002t0002 others(21): Show a0001c0004t0063 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0019 a0002c0002t0023 a0002c0002t0042 a0002c0002t0069 a0002c0002t0083 a0002c0002t0097 a0002c0002t0118 a0002c0002t0128 a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0006 a0002c0003t0012 a0002c0003t0071 a0002c0012t0095 a0007c0017t0087 a0013c0013t0001	a0001c0004t0063g0051 a0002c0002t0001g0029 a0002c0002t0001g0030 others(39): Show a0001c0004t0063g0051 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0050 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0002g0049 a0002c0002t0002g0053 a0002c0002t0006g0068 a0002c0002t0007g0026 a0002c0002t0007g0027 a0002c0002t0007g0071 a0002c0002t0008g0065 a0002c0002t0008g0075 a0002c0002t0009g0067 a0002c0002t0019g0019 a0002c0002t0023g0060 a0002c0002t0042g0031 a0002c0002t0069g0052 a0002c0002t0083g0022 a0002c0002t0097g0018 a0002c0002t0118g0073 a0002c0002t0128g0374 a0002c0003t0001g0058 a0002c0003t0003g0005 a0002c0003t0003g0054 a0002c0003t0003g0070 a0002c0003t0005g0025 a0002c0003t0006g0057 a0002c0003t0012g0056 a0002c0003t0012g0059 a0002c0003t0071g0028 a0002c0012t0095g0325 a0007c0017t0087g0017 a0013c0013t0001g0024	43	392	0.1097	14	c.70- others(29): Show c.70-4523_70-4522insAAAAAAAAAAAAAA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117440920	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0003 a0001c0042t0003	a0001c0042t0003g0127 a0001c0042t0003g0127	1	194	0.0052	14	c.386 others(31): Show c.3863-998_3863-985dupTTTTTTTTTTTTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	21/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117477198	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01993.hp1 HG03130.hp1 others(1): Show HG00673.hp1 HG01993.hp1 HG03130.hp1 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0008 a0001c0013 others(1): Show a0001c0005 a0001c0008 a0001c0013 a0002c0067	a0001c0005t0001 a0001c0008t0001 a0001c0013t0003 others(1): Show a0001c0005t0001 a0001c0008t0001 a0001c0013t0003 a0002c0067t0001	a0001c0005t0001g0190 a0001c0008t0001g0137 a0001c0013t0003g0055 others(1): Show a0001c0005t0001g0190 a0001c0008t0001g0137 a0001c0013t0003g0055 a0002c0067t0001g0108	4	194	0.0206	14	c.278 others(33): Show c.2785+3231_2785+3244dupGTGTGTGTGTGTGT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	14/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117515610	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG02071.hp1 others(3): Show HG00438.hp2 HG00642.hp1 HG02071.hp1 HG03195.hp2 HG03516.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0008 a0002c0001 others(2): Show a0001c0005 a0001c0008 a0002c0001 a0002c0010 a0002c0069	a0001c0005t0001 a0001c0008t0001 a0002c0001t0002 others(3): Show a0001c0005t0001 a0001c0008t0001 a0002c0001t0002 a0002c0001t0004 a0002c0010t0004 a0002c0069t0002	a0001c0005t0001g0096 a0001c0008t0001g0114 a0002c0001t0002g0175 others(3): Show a0001c0005t0001g0096 a0001c0008t0001g0114 a0002c0001t0002g0175 a0002c0001t0004g0139 a0002c0010t0004g0116 a0002c0069t0002g0189	6	194	0.0309	14	c.178 others(31): Show c.1783+843_1783+856dupAAAAAAAAAAAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	8/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117539606	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0002 a0002c0060t0002	a0002c0060t0002g0193 a0002c0060t0002g0193	1	194	0.0052	14	c.512 others(31): Show c.512-7098_512-7085dupTTTTTTTTTTTTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117575873	A A	AAAACAAA others(7): Show AAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG03453.hp2 others(1): Show HG02922.hp2 HG03139.hp2 HG03453.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0001c0025 a0001c0026 others(1): Show a0001c0012 a0001c0025 a0001c0026 a0002c0060	a0001c0012t0003 a0001c0025t0003 a0001c0026t0004 others(1): Show a0001c0012t0003 a0001c0025t0003 a0001c0026t0004 a0002c0060t0002	a0001c0012t0003g0094 a0001c0025t0003g0192 a0001c0026t0004g0051 others(1): Show a0001c0012t0003g0094 a0001c0025t0003g0192 a0001c0026t0004g0051 a0002c0060t0002g0193	4	194	0.0206	14	c.512 others(33): Show c.512-43352_512-43351insGTTTTGTTTTGTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117595054	T T	TTACACAC others(7): Show TTACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01884.hp1 HG03041.hp2 others(2): Show HG00280.hp1 HG01884.hp1 HG03041.hp2 HG03130.hp2 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0009 a0002c0001 others(1): Show a0001c0008 a0001c0009 a0002c0001 a0002c0002	a0001c0008t0001 a0001c0009t0002 a0002c0001t0001 others(2): Show a0001c0008t0001 a0001c0009t0002 a0002c0001t0001 a0002c0002t0002 a0002c0002t0004	a0001c0008t0001g0102 a0001c0009t0002g0180 a0002c0001t0001g0126 others(2): Show a0001c0008t0001g0102 a0001c0009t0002g0180 a0002c0001t0001g0126 a0002c0002t0002g0028 a0002c0002t0004g0086	5	194	0.0258	14	c.512 others(33): Show c.512-62533_512-62532insTGTGTGTGTGTGTA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117595059	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01243.hp1 others(4): Show HG00642.hp2 HG01081.hp1 HG01243.hp1 HG02257.hp1 HG02717.hp2 HG02965.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0025 a0001c0039 a0001c0050 others(2): Show a0001c0025 a0001c0039 a0001c0050 a0002c0002 a0002c0004	a0001c0025t0003 a0001c0025t0004 a0001c0039t0001 others(4): Show a0001c0025t0003 a0001c0025t0004 a0001c0039t0001 a0001c0050t0001 a0002c0002t0002 a0002c0002t0004 a0002c0004t0003	a0001c0025t0003g0192 a0001c0025t0004g0053 a0001c0039t0001g0155 others(4): Show a0001c0025t0003g0192 a0001c0025t0004g0053 a0001c0039t0001g0155 a0001c0050t0001g0022 a0002c0002t0002g0011 a0002c0002t0004g0004 a0002c0004t0003g0002	7	194	0.0361	14	c.512 others(33): Show c.512-62551_512-62538dupGTGTGTGTGTGTGT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117617680	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02630.hp1 HG01081.hp1 HG02630.hp1	a0001 a0001	a0001c0013 a0001c0025 a0001c0013 a0001c0025	a0001c0013t0004 a0001c0025t0004 a0001c0013t0004 a0001c0025t0004	a0001c0013t0004g0177 a0001c0025t0004g0053 a0001c0013t0004g0177 a0001c0025t0004g0053	2	194	0.0103	14	c.512 others(33): Show c.512-85172_512-85159dupTGTGTGTGTGTGTG	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117638315	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0024 a0001c0053t0001g0024	1	194	0.0052	14	c.512 others(35): Show c.512-105807_512-105794dupACACACACACACAC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117649041	A A	ATATATGT others(7): Show ATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0177 a0001c0013t0004g0177	1	194	0.0052	14	c.512 others(35): Show c.512-116520_512-116519insCACACACACATATA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117650700	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0179 a0002c0001t0001g0179	1	194	0.0052	14	c.512 others(35): Show c.512-118179_512-118178insGCGCACACACACAC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117780236	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0004 a0002c0010t0004	a0002c0010t0004g0116 a0002c0010t0004g0116	1	194	0.0052	14	c.364 others(29): Show c.364+243_364+256dupTTCTTTCTTTCTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117780304	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18984.hp2 NA19086.hp2 HG01884.hp2 NA18984.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0014 a0001c0029 a0002c0003 a0001c0014 a0001c0029 a0002c0003	a0001c0014t0003 a0001c0029t0002 a0002c0003t0001 a0001c0014t0003 a0001c0029t0002 a0002c0003t0001	a0001c0014t0003g0178 a0001c0029t0002g0103 a0002c0003t0001g0130 a0001c0014t0003g0178 a0001c0029t0002g0103 a0002c0003t0001g0130	3	194	0.0155	14	c.364 others(29): Show c.364+188_364+189insTTCTTTCTTTCTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32			chr11	TogoVar
DSE_chr6_116365947_116449861	116382037	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03540.hp2 NA18946.hp2 others(2): Show HG02615.hp2 HG03540.hp2 NA18946.hp2 NA18964.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021	a0001c0001t0001g0142 a0001c0001t0002g0308 a0001c0001t0003g0237 others(2): Show a0001c0001t0001g0142 a0001c0001t0002g0308 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0021g0309	5	366	0.0137	14	c.-54 others(33): Show c.-54+10938_-54+10951dupGTGTGTGTGTGTGT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSE_chr6_116365947_116449861	116446393	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA19002.hp2 NA19010.hp2 NA18949.hp1 NA19002.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0190 a0001c0001t0002g0010 a0001c0001t0002g0190	3	366	0.0082	14	c.90 others(25): Show c.9048_*9049insAAAAAAAAAAAAAA	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding		1533		chr6	TogoVar

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