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
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	228	0.0044	41	c.312 others(60): Show c.312+41706_312+41707insATATATATATATATATATATATATTT TTTTTTTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPP10_chr2_114437641_115850780	115334230	G G	GTTTTTTT others(34): Show GTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03516.hp2 NA20752.hp2 HG01192.hp2 HG03516.hp2 NA20752.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0005 a0002c0001 a0004c0005	a0002c0001t0002 a0004c0005t0003 a0002c0001t0002 a0004c0005t0003	a0002c0001t0002g0050 a0002c0001t0002g0053 a0004c0005t0003g0030 a0002c0001t0002g0050 a0002c0001t0002g0053 a0004c0005t0003g0030	3	56	0.0536	41	c.176 others(58): Show c.176-9571_176-9570insTTTTTTTTGTTTTTTTTTTTTTTGTTTT TTTTTTTTTTTTT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP7_chr9_137105546_137119733	137114055	C C	CCCCGCGA others(34): Show CCCCGCGACCCCACCCGGCACCCGCGTGCCCCGCGACCCCCG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0030 a0003c0013t0001g0030	1	454	0.0022	41	c.322 others(54): Show c.322-28_322-27insCGGGGGTCGCGGGGCACGCGGGTGCCGGGTGG GGTCGCGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114055	C C	CCCCGCGA others(34): Show CCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGCGACCCCCG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02886.hp2 NA19240.hp1 HG02135.hp2 HG02886.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0036 a0002c0002t0001g0068 a0001c0001t0001g0036 a0002c0002t0001g0068	3	454	0.0066	41	c.322 others(54): Show c.322-68_322-28dupCGGGGGTCGCGGGGCACGCGGGTGCCGGGCGG GGTCGCGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114071	G G	GGCACCCG others(34): Show GGCACCCGCGTGCCCCGCGACCCCCGCCCGCGACCCCGCCCA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	454	0.0022	41	c.322 others(54): Show c.322-44_322-43insTGGGCGGGGTCGCGGGCGGGGGTCGCGGGGCA CGCGGGTGC	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114088	C C	CGACCCCC others(34): Show CGACCCCCGCCCGCGACCCCGCCCAGCACCCGCGTGCCCCGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	454	0.0022	41	c.322 others(54): Show c.322-61_322-60insACGGGGCACGCGGGTGCTGGGCGGGGTCGCGG GCGGGGGTC	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114088	C C	CGACCCCC others(34): Show CGACCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(150): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01109.hp1 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0008 a0010 a0011	a0001c0001 a0001c0004 a0001c0006 others(9): Show a0001c0001 a0001c0004 a0001c0006 a0001c0016 a0001c0022 a0001c0029 a0002c0008 a0004c0014 a0006c0009 a0008c0027 a0010c0019 a0011c0024	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(9): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0016t0001 a0001c0022t0001 a0001c0029t0001 a0002c0008t0001 a0004c0014t0001 a0006c0009t0001 a0008c0027t0001 a0010c0019t0001 a0011c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0016 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0004t0001g0005 a0001c0004t0001g0061 a0001c0006t0001g0130 a0001c0016t0001g0060 a0001c0022t0001g0131 a0001c0029t0001g0143 a0002c0008t0001g0114 a0004c0014t0001g0128 a0006c0009t0001g0025 a0008c0027t0001g0137 a0010c0019t0001g0132 a0011c0024t0001g0135	153	454	0.3370	41	c.322 others(54): Show c.322-61_322-60insACGGGGCACGCGGGTGCCGGGCGGGGTCGCGG GCGGGGGTC	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114103	A A	ACCCCGCC others(34): Show ACCCCGCCCGGCACCCGCGTGCCCCGTGACCCCCGCCGCGAC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	454	0.0022	41	c.322 others(54): Show c.322-76_322-75insGTCGCGGCGGGGGTCACGGGGCACGCGGGTGC CGGGCGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPY19L2_chr12_63553913_63673493	63591996	G G	GAGGGGAG others(34): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0008 a0004c0008t0008	a0004c0008t0008g0193 a0004c0008t0008g0193	1	362	0.0028	41	c.158 others(60): Show c.1580+2090_1580+2091insACCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63592006	G G	GAGGGGAG others(34): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0102 a0006c0011t0003g0102	1	362	0.0028	41	c.158 others(60): Show c.1580+2080_1580+2081insACCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPYD_chr1_97072743_97926034	97323455	T T	TGTGTATA others(34): Show TGTGTATATGTACACGTATGTATACATATGTGTATATGTACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0026 a0004c0004t0001g0026	1	52	0.0192	41	c.205 others(62): Show c.2059-17159_2059-17158insTGTACATATACACATATGTATACA TACGTGTACATATACAC	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	16/22			chr1	TogoVar
DRAP1_chr11_65914426_65926563	65918413	G G	GGGTTGCT others(34): Show GGGTTGCTGCAGTTATTACTATTCTCCTTGACTTACAGAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	402	0.0025	41	c.-10 others(52): Show c.-1089_-1088insGGTTGCTGCAGTTATTACTATTCTCCTTGACTTA CAGAAAA	DRAP1	ENSG00000175550.8	transcript	ENST00000312515.7	protein_coding		1012		chr11	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG06807.hp1 HG00733.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0233 a0001c0002t0001g0204 a0001c0002t0001g0233	2	322	0.0062	41	c.342 others(58): Show c.3420-522_3420-521insGGCGCATATATATATATATATATATATA TATATATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421917	C C	CATATATA others(34): Show CATATATATAAAAATTAGCCGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02109.hp1 HG01175.hp2 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0022 a0001c0003 a0001c0022	a0001c0003t0003 a0001c0022t0003 a0001c0003t0003 a0001c0022t0003	a0001c0003t0003g0231 a0001c0022t0003g0045 a0001c0003t0003g0231 a0001c0022t0003g0045	2	322	0.0062	41	c.342 others(58): Show c.3420-541_3420-540insACACACACACACACACACACACGGCTAA TTTTTATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DUSP14_chr17_37484891_37518498	37509104	C C	CCATATAT others(34): Show CCATATATATATATATGTGTGTATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0287 a0001c0001t0005g0287	1	421	0.0024	41	c.-18 others(60): Show c.-180-1573_-180-1572insCATATATATATATATGTGTGTATATA TATATATATATATGT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2			chr17	TogoVar
DUXA_chr19_57149021_57172485	57165324	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATGTATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03195.hp2 HG02886.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0199 a0001c0001t0001g0200	2	446	0.0045	41	c.25+ others(56): Show c.25+2094_25+2095insATATATATATACATATATATATATATATAT ATATATATATA	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DVL1_chr1_1330278_1354418	1350374	C C	CGGGGGGA others(34): Show CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	344	0.0029	41	c.-13 others(52): Show c.-1310_-1309insCGTCGCTCCAGCCCCGTCCAGGCCCCCTCCTCAC TCCCCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		957		chr1	TogoVar
DVL1_chr1_1330278_1354418	1350788	A A	AGGGGGCC others(34): Show AGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	344	0.0029	41	c.-17 others(52): Show c.-1724_-1723insCTCCTCACTCCCCCCGTCGCTCCTGCCCGGTCCA GGCCCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1371		chr1	TogoVar
DYDC1_chr10_80331105_80361755	80359309	G G	GTGCTGAT others(34): Show GTGCTGATTGGTACATTTACAAACCTTGAGCTAGACACAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01358.hp2 HG00140.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	366	0.0055	41	c.-26 others(52): Show c.-2648_-2608dupTTCTGTGTCTAGCTCAAGGTTTGTAAATGTACCA ATCAGCA	DYDC1	ENSG00000170788.14	transcript	ENST00000372202.6	protein_coding		2555		chr10	TogoVar
DYDC2_chr10_80351781_80373073	80359309	G G	GTGCTGAT others(34): Show GTGCTGATTGGTACATTTACAAACCTTGAGCTAGACACAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01358.hp1 HG00140.hp2 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	2	388	0.0052	41	c.-10 others(58): Show c.-10+1276_-10+1316dupACATTTACAAACCTTGAGCTAGACACAG AATGCTGATTGGT	DYDC2	ENSG00000133665.13	transcript	ENST00000256039.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
DYM_chr18_49031387_49465645	49462408	A A	AAACAAAA others(34): Show AAACAAAAAAAAAAAAAAAAATCCCCCTAAAAAAAAAAAACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	290	0.0035	41	c.-20 others(52): Show c.-2065_-2064insGGTTTTTTTTTTTTAGGGGGATTTTTTTTTTTTT TTTTGTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding		1764		chr18	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537927	A A	ATATATAT others(34): Show ATATATATATATAATTTATATATATAATATATATATATAATT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	336	0.0030	41	c.739 others(56): Show c.739-824_739-823insAATTATATATATATATTATATATATAAATT ATATATATATA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC2I1_chr7_158851558_158951189	158916086	G G	GGATGATT others(34): Show GGATGATTGTGAAACCTCGGCATGCTGGTTGAGATTAAGGAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0015 a0002c0019t0015	a0002c0019t0015g0043 a0002c0019t0015g0043	1	274	0.0037	41	c.179 others(60): Show c.1791+1768_1791+1769insGATTGTGAAACCTCGGCATGCTGGTT GAGATTAAGGATGAT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	396	0.0025	41	c.75 others(50): Show c.757_*758insAAAAAAATATATATATATATATATATATATATATAT ATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0235 a0001c0001t0039g0235	1	350	0.0029	41	c.10+ others(58): Show c.10+19769_10+19770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
ECD_chr10_73128668_73173008	73132930	C C	CATTTATA others(34): Show CATTTATATTTTTGCCTATCACCCTTTCTCTACCCAATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0074 a0002c0003t0002g0074	1	272	0.0037	41	c.16 others(52): Show c.1612_*1652dupAAATATTGGGTAGAGAAAGGGTGATAGGCAAAAA TATAAAT	ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding		737		chr10	TogoVar
EDDM13_chr19_56267748_56315454	56302581	C C	CTCCCTCC others(34): Show CTCCCTCCCCCCTTCCTTTTCTTCCTCCCTCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01346.hp1 others(3): Show HG00642.hp2 HG01074.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0001g0195 a0001c0001t0001g0217 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0195 a0001c0001t0001g0217 a0001c0001t0001g0342 a0001c0001t0002g0104	6	396	0.0152	41	c.423 others(56): Show c.423+486_423+487insTCCCTCCCCCCTTCCTTTTCTTCCTCCCTC CCTCCCCCCTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14			chr19	TogoVar
EDDM13_chr19_56267748_56315454	56302581	C C	CTCCCTCC others(34): Show CTCCCTCCCCCCTTCCTTTTCTTCCTCCCTCCCTCCCCTCTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19075.hp1 HG02523.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0295 a0001c0001t0001g0231 a0001c0001t0001g0295	2	396	0.0051	41	c.423 others(56): Show c.423+486_423+487insTCCCTCCCCCCTTCCTTTTCTTCCTCCCTC CCTCCCCTCTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14			chr19	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	358	0.0028	41	c.400 others(58): Show c.400-3626_400-3625insATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0141 a0001c0001t0009g0141	1	358	0.0028	41	c.400 others(58): Show c.400-3626_400-3625insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	358	0.0028	41	c.400 others(58): Show c.400-3626_400-3625insATATATATATATATATATATATATTTTT TTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	358	0.0028	41	c.400 others(58): Show c.400-3626_400-3625insATATATATATATATATATATATATATTT TTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCCCGCCC others(34): Show CCCCGCCCCCCCCCGCCCCCCCCGCCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	272	0.0037	41	c.-51 others(50): Show c.-517_-516insCCCGCCCCCCCCCGCCCCCCCCGCCCCCCCCCGCCC CCCTT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152992	C C	CCGCCCCC others(34): Show CCGCCCCCCCCCGCCCCCCCCGCCCCCCCCCGCCCCCCTTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	272	0.0037	41	c.-51 others(50): Show c.-516_-515insCGCCCCCCCCCGCCCCCCCCGCCCCCCCCCGCCCCC CTTCG	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		488		chr3	TogoVar
EFCAB11_chr14_89789669_89959730	89881466	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	284	0.0035	41	c.410 others(60): Show c.410+50074_410+50075insTATATATATATATATATATATATATA TATATATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AGAGAGAG others(34): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0099 a0005c0006t0001g0099	1	344	0.0029	41	c.128 others(60): Show c.1289-2814_1289-2813insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTC	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHC1_chr6_52415342_52502198	52440201	C C	CAACTATG others(34): Show CAACTATGTCAATACATAATACTATGTCAATACATTTTGTCA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0241 a0001c0014t0002g0241	1	396	0.0025	41	c.573 others(58): Show c.573+1614_573+1615insATGTCAATACATAATACTATGTCAATAC ATTTTGTCAAACT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
EGFL6_chrX_13564601_13638575	13598863	C C	CATATATA others(34): Show CATATATATTTCATATATATAATTCACATATATATAATTCAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03540.hp1 NA20129.hp2 HG01891.hp1 HG03540.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0031 a0002c0003t0004g0032 a0002c0003t0004g0160 a0002c0003t0004g0031 a0002c0003t0004g0032 a0002c0003t0004g0160	3	302	0.0099	41	c.281 others(58): Show c.281-1062_281-1022dupTTCATATATATAATTCACATATATATAA TTCATATATATAT	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFL7_chr9_136657916_136677678	136675317	C C	CAGGGGGC others(34): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	432	0.0023	41	c.30 others(52): Show c.3031_*3032insAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCA GGAAGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2640		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675317	C C	CAGGGGGC others(34): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp1 others(121): Show HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02148.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19089.hp1 NA19090.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0013 a0002c0002 others(3): Show a0001c0001 a0001c0013 a0002c0002 a0004c0005 a0006c0016 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0013t0001 a0002c0002t0006 a0004c0005t0001 a0006c0016t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0002g0001 a0001c0001t0005g0001 a0001c0001t0005g0125 a0001c0001t0007g0001 a0001c0001t0007g0003 a0001c0001t0007g0147 a0001c0001t0008g0001 a0001c0013t0001g0002 a0002c0002t0006g0089 a0004c0005t0001g0040 a0004c0005t0001g0115 a0006c0016t0001g0112 a0007c0008t0001g0003	124	432	0.2870	41	c.30 others(52): Show c.3031_*3032insAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCA GGGAGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2640		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675317	C C	CAGGGGGC others(34): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA18951.hp2 NA18990.hp2 others(2): Show HG03139.hp1 NA18951.hp2 NA18990.hp2 NA19005.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0122 a0002c0002t0004g0063 a0001c0001t0001g0001 a0001c0001t0001g0122 a0002c0002t0004g0063	5	432	0.0116	41	c.30 others(52): Show c.3031_*3032insAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCA GGGAGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2640		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675388	G G	CAGCAGGG others(34): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02132.hp2 NA18999.hp1 others(2): Show HG02071.hp2 HG02132.hp2 NA18999.hp1 NA19003.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0144 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0144 a0001c0001t0001g0145	5	432	0.0116	41	c.31 others(52): Show c.3101_*3102insCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGG GGACTGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2710		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675388	G G	GAGCAGGG others(34): Show GAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG01167.hp1 others(3): Show HG00733.hp1 HG01074.hp1 HG01167.hp1 HG01361.hp1 HG01515.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0001g0114 a0001c0001t0002g0001 a0001c0001t0001g0044 a0001c0001t0001g0114 a0001c0001t0002g0001	6	432	0.0139	41	c.31 others(52): Show c.3102_*3103insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGC	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2711		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675429	C C	CAGCAGGG others(34): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02055.hp2 HG02717.hp2 others(5): Show HG01099.hp2 HG02055.hp2 HG02717.hp2 HG03139.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0004 a0001c0001t0001 a0001c0001t0005 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0045 a0001c0001t0005g0072 a0002c0002t0004g0063	8	432	0.0185	41	c.31 others(52): Show c.3143_*3144insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2752		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675436	A A	AAGGGAGG others(34): Show AAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	432	0.0023	41	c.31 others(52): Show c.3150_*3151insAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGC AGCAGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2759		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675470	C C	CAGCAGGG others(34): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0115 a0004c0005t0001g0115	1	432	0.0023	41	c.31 others(52): Show c.3184_*3185insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2793		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675485	A A	AGGCCAGC others(34): Show AGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01256.hp1 NA20300.hp1 HG01123.hp2 HG01256.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0003 a0001c0001t0005 a0002c0002t0003	a0001c0001t0005g0031 a0002c0002t0003g0083 a0001c0001t0005g0031 a0002c0002t0003g0083	3	432	0.0069	41	c.31 others(52): Show c.3199_*3200insGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGA GGGAGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2808		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675511	G G	GAGCAGGG others(34): Show GAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02451.hp2 HG02622.hp2 others(12): Show HG01081.hp1 HG02451.hp2 HG02622.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03516.hp2 HG03688.hp1 HG06807.hp2 NA19005.hp2 NA19065.hp1 NA19090.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0004g0110 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0004g0110 a0002c0002t0002g0005 a0002c0002t0003g0016 a0002c0002t0003g0085 a0002c0002t0004g0005 a0002c0002t0004g0046 a0002c0002t0004g0062 a0002c0002t0004g0064 a0002c0002t0006g0090 a0002c0002t0006g0091 a0002c0002t0006g0138 a0002c0002t0009g0038	15	432	0.0347	41	c.32 others(52): Show c.3225_*3226insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGC	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2834		chr9	TogoVar
EGFL7_chr9_136657916_136677678	136675552	C C	CAGCAGGG others(34): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0063 a0002c0002t0004g0063	1	432	0.0023	41	c.32 others(52): Show c.3266_*3267insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2875		chr9	TogoVar
EGFR_chr7_55014017_55216628	55166621	G G	GTGAGGAG others(34): Show GTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01070.hp2 others(31): Show HG00140.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01257.hp1 HG01361.hp2 HG01884.hp1 HG02027.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02559.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 NA18612.hp1 NA18906.hp1 NA18945.hp1 NA18946.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0012 a0001c0020	a0001c0001t0003 a0001c0001t0018 a0001c0001t0066 others(17): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0066 a0001c0003t0001 a0001c0003t0002 a0001c0003t0064 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0008 a0001c0004t0010 a0001c0004t0045 a0001c0004t0048 a0001c0004t0065 a0001c0005t0003 a0001c0010t0007 a0001c0010t0012 a0001c0012t0016 a0001c0020t0001	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0077 others(30): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0077 a0001c0001t0018g0012 a0001c0001t0018g0013 a0001c0001t0018g0014 a0001c0001t0066g0146 a0001c0003t0001g0100 a0001c0003t0002g0061 a0001c0003t0064g0144 a0001c0004t0001g0032 a0001c0004t0001g0166 a0001c0004t0004g0164 a0001c0004t0005g0088 a0001c0004t0006g0105 a0001c0004t0008g0066 a0001c0004t0008g0067 a0001c0004t0008g0068 a0001c0004t0008g0070 a0001c0004t0008g0073 a0001c0004t0008g0074 a0001c0004t0010g0235 a0001c0004t0045g0160 a0001c0004t0048g0089 a0001c0004t0065g0069 a0001c0005t0003g0009 a0001c0010t0007g0048 a0001c0010t0007g0097 a0001c0010t0007g0126 a0001c0010t0012g0223 a0001c0010t0012g0224 a0001c0012t0016g0218 a0001c0020t0001g0158	34	250	0.1360	41	c.188 others(60): Show c.1880+1224_1880+1225insATGAGGAGGTGGGAGTCACAGTGGTG GTGGTGTTGATGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar

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