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
ENOX1_chr13_43208130_43791972	43651695	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03041.hp2 HG01257.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0115 a0001c0002t0001g0056 a0001c0001t0002g0115 a0001c0002t0001g0056	2	188	0.0106	17	c.-21 others(38): Show c.-219+15783_-219+15784insTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43772749	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp1 HG02809.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0003 a0001c0001t0003 a0001c0005t0003	a0001c0001t0003g0021 a0001c0005t0003g0052 a0001c0001t0003g0021 a0001c0005t0003g0052	2	188	0.0106	17	c.-28 others(38): Show c.-285+13886_-285+13902dupTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENOX2_chrX_130617325_130908209	130682583	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19240.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0146 a0001c0001t0004g0148 a0001c0001t0004g0146 a0001c0001t0004g0148	2	154	0.0130	17	c.254 others(34): Show c.254-2852_254-2836dupTTTTTTTTTTTTTTTTT	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	5/14			chrX	TogoVar
ENPP2_chr8_119552086_119643839	119554357	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	340	0.0029	17	c.31 others(28): Show c.3163_*3164insAAAAAAAAAAAAAAAAA	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding		2728		chr8	TogoVar
ENPP2_chr8_119552086_119643839	119605465	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	340	0.0029	17	c.833 others(34): Show c.833+2456_833+2457insTACACACACACACACAC	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	9/24			chr8	TogoVar
ENPP3_chr6_131632302_131752410	131639266	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0002 a0009c0018t0002	a0009c0018t0002g0025 a0009c0018t0002g0025	1	278	0.0036	17	c.78+ others(32): Show c.78+1804_78+1805insATATATATATATATATA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	1/24			chr6	TogoVar
ENPP3_chr6_131632302_131752410	131699235	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00639.hp2 others(28): Show HG00408.hp1 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG01169.hp1 HG01975.hp2 HG02056.hp1 HG02273.hp1 HG02683.hp2 HG02735.hp2 HG03669.hp1 HG03704.hp2 HG04184.hp1 HG04199.hp2 NA18939.hp2 NA18945.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18964.hp2 NA18968.hp1 NA18980.hp1 NA18987.hp1 NA19002.hp2 NA19003.hp1 NA19062.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0002c0006t0002 a0001c0002t0001 a0002c0006t0002	a0001c0002t0001g0032 a0001c0002t0001g0038 a0001c0002t0001g0039 others(28): Show a0001c0002t0001g0032 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0098 a0001c0002t0001g0103 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0190 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0230 a0001c0002t0001g0251 a0002c0006t0002g0218 a0002c0006t0002g0225	31	278	0.1115	17	c.141 others(36): Show c.1412+5616_1412+5632dupAAAAAAAAAAAAAAAAA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131724226	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02895.hp1 others(8): Show HG02451.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2 NA19068.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0002 a0004c0004 a0006c0014 a0001c0002 a0004c0004 a0006c0014	a0001c0002t0001 a0004c0004t0001 a0006c0014t0002 a0001c0002t0001 a0004c0004t0001 a0006c0014t0002	a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0076 others(8): Show a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0004c0004t0001g0011 a0004c0004t0001g0026 a0004c0004t0001g0028 a0004c0004t0001g0037 a0004c0004t0001g0173 a0004c0004t0001g0188 a0006c0014t0002g0115	11	278	0.0396	17	c.179 others(34): Show c.1798+148_1798+149insAAAAAAAAAAAAAAAAA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131724232	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	278	0.0036	17	c.179 others(34): Show c.1798+148_1798+149insAAAAAAAAACAAAAAAA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184131259	T T	TTTCTCTT others(10): Show TTTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0192 a0002c0001t0001g0192	1	320	0.0031	17	c.422 others(34): Show c.422-6988_422-6987insGAAAGAAAGAAAGAGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79746614	G G	GAGGGATC others(10): Show GAGGGATCCCCTGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01496.hp2 others(11): Show HG01167.hp1 HG01169.hp1 HG01496.hp2 HG01884.hp2 HG02109.hp2 HG02630.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0009 a0002c0001 others(4): Show a0001c0002 a0001c0009 a0002c0001 a0002c0010 a0002c0032 a0003c0005 a0007c0013	a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0009t0001 a0001c0009t0002 a0002c0001t0001 a0002c0010t0001 a0002c0032t0002 a0003c0005t0001 a0007c0013t0002	a0001c0002t0001g0097 a0001c0002t0002g0009 a0001c0002t0002g0091 others(7): Show a0001c0002t0001g0097 a0001c0002t0002g0009 a0001c0002t0002g0091 a0001c0009t0001g0074 a0001c0009t0002g0067 a0002c0001t0001g0046 a0002c0010t0001g0023 a0002c0032t0002g0129 a0003c0005t0001g0047 a0007c0013t0002g0072	14	430	0.0326	17	c.48 others(28): Show c.4837_*4838insAGGGATCCCCTGAGGGA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		4396		chr17	TogoVar
ENTHD1_chr22_39738044_39898760	39766019	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19078.hp2 NA19002.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0163 a0001c0001t0002g0171	2	218	0.0092	17	c.833 others(32): Show c.833-427_833-411dupTTTTTTTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTHD1_chr22_39738044_39898760	39814295	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02922.hp1 HG03704.hp2 others(2): Show HG01106.hp2 HG02922.hp1 HG03704.hp2 NA19067.hp1 NA19078.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0004c0009t0001 a0001c0001t0002 a0004c0009t0001	a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0171 others(2): Show a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0202 a0004c0009t0001g0153	5	218	0.0229	17	c.832 others(34): Show c.832+6697_832+6698insTTTTTTTTTTTTTTTTT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTPD1_chr10_95751163_95882266	95758002	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01175.hp1 HG01496.hp2 others(2): Show HG01069.hp2 HG01175.hp1 HG01496.hp2 NA18962.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0037 a0001c0001t0001 a0001c0001t0004 a0001c0001t0037	a0001c0001t0001g0201 a0001c0001t0004g0197 a0001c0001t0004g0198 others(2): Show a0001c0001t0001g0201 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0037g0200	5	340	0.0147	17	c.16+ others(32): Show c.16+1759_16+1775dupAAAAAAAAAAAAAAAAA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD1_chr10_95751163_95882266	95760814	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03927.hp1 HG03579.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0059 a0001c0001t0006 a0001c0001t0059	a0001c0001t0006g0130 a0001c0001t0059g0129 a0001c0001t0006g0130 a0001c0001t0059g0129	2	340	0.0059	17	c.16+ others(32): Show c.16+4576_16+4592dupTTTTTTTTTTTTTTTTT	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD4_chr8_23424162_23462647	23427124	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG01070.hp2 others(28): Show HG00642.hp2 HG00673.hp1 HG01070.hp2 HG01106.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG02148.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02622.hp1 HG02818.hp2 HG02922.hp2 HG03130.hp1 NA18940.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18969.hp2 NA18987.hp2 NA18988.hp2 NA18994.hp2 NA18998.hp2 NA19054.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19079.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0009 a0001c0001 a0002c0002 a0010c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0034 a0002c0002t0003 a0010c0009t0045	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0106 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0148 a0001c0001t0007g0026 a0001c0001t0010g0162 a0001c0001t0034g0112 a0002c0002t0003g0003 a0002c0002t0003g0056 a0010c0009t0045g0105	31	412	0.0752	17	c.57 others(28): Show c.5785_*5801dupTTTTTTTTTTTTTTTTT	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		2037		chr8	TogoVar
ENTPD5_chr14_73958230_74024288	74005364	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0260 a0001c0001t0014g0260	1	380	0.0026	17	c.-71 others(34): Show c.-71+5726_-71+5727insTTTTTTTTTTTTTTTTT	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	3/15			chr14	TogoVar
ENTPD8_chr9_137429364_137446357	137440687	C C	CCCCCCAG others(10): Show CCCCCCAGACCAGGACAG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0069 a0003c0003t0002g0069	1	392	0.0026	17	c.-21 others(32): Show c.-21+598_-21+599insCTGTCCTGGTCTGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440996	G G	GACACCCC others(10): Show GACACCCCCTCAGACAGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp2 NA18906.hp2 HG02622.hp1 HG02965.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	3	392	0.0077	17	c.-21 others(32): Show c.-21+289_-21+290insTCTGTCTGAGGGGGTGT	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29264154	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03490.hp1 HG03490.hp2 others(7): Show HG00558.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp2 HG03834.hp1 NA18906.hp1 NA18955.hp2 NA18962.hp2 NA18983.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0002c0015 a0003c0006 others(4): Show a0001c0001 a0002c0015 a0003c0006 a0004c0013 a0004c0020 a0007c0028 a0008c0040	a0001c0001t0001 a0001c0001t0004 a0002c0015t0012 others(5): Show a0001c0001t0001 a0001c0001t0004 a0002c0015t0012 a0003c0006t0002 a0004c0013t0001 a0004c0020t0008 a0007c0028t0017 a0008c0040t0012	a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0004g0024 others(7): Show a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0004g0024 a0001c0001t0004g0026 a0002c0015t0012g0008 a0003c0006t0002g0081 a0004c0013t0001g0114 a0004c0020t0008g0009 a0007c0028t0017g0089 a0008c0040t0012g0025	10	125	0.0800	17	c.277 others(36): Show c.277-11677_277-11676insTTTTTTTTTTTTTTTTT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	395	0.0025	17	c.622 others(32): Show c.622-818_622-817insAAATATATATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	395	0.0025	17	c.622 others(32): Show c.622-818_622-817insAAAAAAAAATATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	2	395	0.0051	17	c.622 others(32): Show c.622-818_622-817insAAAAAAAAAAATATATA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
ENTREP3_chr1_155242205_155260483	155252723	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18944.hp2 NA19005.hp2 others(1): Show HG01074.hp1 NA18944.hp2 NA19005.hp2 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0175 a0001c0001t0001g0195 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0175 a0001c0001t0001g0195 a0001c0001t0001g0234 a0003c0002t0001g0174	4	395	0.0101	17	c.622 others(32): Show c.622-819_622-818insTATATATATATATATAT	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11			chr1	TogoVar
EOGT_chr3_68970225_69018684	68976641	C C	CTGTGTGT others(10): Show CTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0179 a0001c0001t0055g0179	1	444	0.0023	17	c.97 others(26): Show c.976_*977insACACACACACACACACA	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	18/18	976		chr3	TogoVar
EOGT_chr3_68970225_69018684	69007511	G G	GGGGGGGG others(10): Show GGGGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0045 a0001c0002t0052g0045	1	444	0.0023	17	c.420 others(32): Show c.420+201_420+202insGCCCCCCCCCCCCCCCC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	6/17			chr3	TogoVar
EOGT_chr3_68970225_69018684	69016256	G G	GGTTGTGT others(10): Show GGTTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 NA18955.hp1 HG04204.hp2 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0025 a0001c0002t0001 a0001c0002t0025	a0001c0002t0001g0282 a0001c0002t0025g0372 a0001c0002t0001g0282 a0001c0002t0025g0372	2	444	0.0045	17	c.-30 others(28): Show c.-3039_-3038insACACACACACACACAAC	EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding		2573		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	400	0.0025	17	c.57 others(28): Show c.5753_*5754insATATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(10): Show ATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01943.hp2 HG01109.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0008 a0002c0002t0002g0012	2	400	0.0050	17	c.57 others(28): Show c.5753_*5754insAAATATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(10): Show ATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	400	0.0025	17	c.57 others(28): Show c.5753_*5754insAAAAATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711317	T T	TATATATA others(10): Show TATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 NA18969.hp1 HG00099.hp1 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0003 a0002c0002t0002g0013 a0001c0001t0001g0003 a0002c0002t0002g0013	2	400	0.0050	17	c.57 others(28): Show c.5752_*5753insTATATATATATATATAT	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4635		chr3	TogoVar
EP300_chr22_41087592_41185077	41088007	A A	AAAAAAAG others(10): Show AAAAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02647.hp1 HG02723.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0201 a0001c0010t0005g0202 a0001c0010t0005g0201 a0001c0010t0005g0202	2	300	0.0067	17	c.-49 others(28): Show c.-4998_-4997insAAAAAAGAAAAGAAAAG	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding		4584		chr22	TogoVar
EP300_chr22_41087592_41185077	41154376	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02523.hp2 HG03491.hp2 others(4): Show HG00597.hp1 HG02523.hp2 HG03491.hp2 HG03942.hp2 HG06807.hp1 NA18747.hp2 NA20805.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0010c0026 a0002c0003 a0010c0026	a0002c0003t0001 a0002c0003t0013 a0002c0003t0018 others(1): Show a0002c0003t0001 a0002c0003t0013 a0002c0003t0018 a0010c0026t0001	a0002c0003t0001g0182 a0002c0003t0001g0184 a0002c0003t0013g0176 others(4): Show a0002c0003t0001g0182 a0002c0003t0001g0184 a0002c0003t0013g0176 a0002c0003t0018g0138 a0002c0003t0018g0144 a0002c0003t0018g0145 a0010c0026t0001g0185	7	300	0.0233	17	c.314 others(34): Show c.3143-612_3143-596dupTTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	16/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	132073459	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0186 a0013c0019t0001g0186	1	208	0.0048	17	c.902 others(36): Show c.9022-3043_9022-3042insTTTTTTTTTTTTTTTTT	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	51/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	132083498	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0001 a0001c0066t0001	a0001c0066t0001g0073 a0001c0066t0001g0073	1	208	0.0048	17	c.58 others(28): Show c.5825_*5826insAAAAAAAAAAAAAAAAA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding		3039		chr12	TogoVar
EPAS1_chr2_46292407_46391697	46359257	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02135.hp1 HG02135.hp2 others(14): Show HG02074.hp1 HG02135.hp1 HG02135.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02683.hp2 HG02886.hp1 HG03130.hp1 NA18960.hp1 NA18974.hp2 NA18975.hp1 NA18998.hp2 NA19060.hp2 NA19062.hp2 NA19075.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0002c0013 others(3): Show a0001c0001 a0002c0002 a0002c0013 a0003c0004 a0004c0007 a0007c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0005 a0002c0013t0001 a0003c0004t0008 a0004c0007t0013 a0007c0012t0001	a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0215 others(14): Show a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0243 a0001c0001t0001g0284 a0001c0001t0001g0304 a0001c0001t0003g0301 a0001c0001t0004g0238 a0002c0002t0001g0156 a0002c0002t0001g0166 a0002c0002t0001g0272 a0002c0002t0005g0014 a0002c0013t0001g0317 a0003c0004t0008g0218 a0004c0007t0013g0172 a0007c0012t0001g0159	17	326	0.0522	17	c.455 others(34): Show c.455-1373_455-1357dupAAAAAAAAAAAAAAAAA	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36204471	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0211 a0001c0002t0011g0211	1	236	0.0042	17	c.166 others(36): Show c.1669-5007_1669-4991dupTTTTTTTTTTTTTTTTT	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130892403	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp2 HG01515.hp2 others(7): Show HG01099.hp2 HG01123.hp2 HG01515.hp2 HG01975.hp2 HG02258.hp1 HG02683.hp2 HG03492.hp1 HG03927.hp1 NA18965.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0003 a0001c0001t0001g0141 a0001c0001t0002g0291 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0141 a0001c0001t0002g0291 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0004g0289 a0001c0001t0005g0134 a0001c0001t0013g0129	10	356	0.0281	17	c.148 others(36): Show c.1487+1924_1488-1938dupAAAAAAAAAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	10/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130944207	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	356	0.0028	17	c.705 others(36): Show c.705+10897_705+10898insGTGTGTGTGTGTGTGTG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130951312	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0333 a0001c0002t0002g0333	1	356	0.0028	17	c.705 others(34): Show c.705+3776_705+3792dupAAAAAAAAAAAAAAAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03704.hp2 HG01515.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0001g0141 a0001c0001t0001g0161	2	356	0.0056	17	c.705 others(34): Show c.705+1064_705+1065insAAAAAAAAAGAAAGAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(10): Show CTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01258.hp1 HG02056.hp1 others(8): Show HG00597.hp1 HG01258.hp1 HG02056.hp1 HG03139.hp1 HG04115.hp1 NA18959.hp1 NA18972.hp2 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0132 a0001c0001t0001g0171 a0001c0001t0002g0187 others(8): Show a0001c0001t0001g0132 a0001c0001t0001g0171 a0001c0001t0002g0187 a0001c0001t0003g0177 a0001c0001t0003g0186 a0001c0001t0003g0197 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0004g0004 a0001c0002t0002g0138	11	356	0.0309	17	c.705 others(34): Show c.705+1064_705+1065insAAAAAAAAAAAAAGAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	356	0.0028	17	c.-14 others(36): Show c.-14-16455_-14-16439dupTTTTTTTTTTTTTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	228	0.0044	17	c.100 others(34): Show c.100-7032_100-7016dupTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109288722	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01261.hp1 HG02004.hp1 others(2): Show HG00639.hp2 HG01261.hp1 HG02004.hp1 HG02698.hp2 NA20905.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0008c0019	a0001c0001t0001 a0001c0004t0055 a0002c0003t0031 others(2): Show a0001c0001t0001 a0001c0004t0055 a0002c0003t0031 a0002c0003t0057 a0008c0019t0069	a0001c0001t0001g0043 a0001c0004t0055g0212 a0002c0003t0031g0213 others(2): Show a0001c0001t0001g0043 a0001c0004t0055g0212 a0002c0003t0031g0213 a0002c0003t0057g0214 a0008c0019t0069g0312	5	318	0.0157	17	c.307 others(34): Show c.307-8818_307-8802dupTTTTTTTTTTTTTTTTT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120069128	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	278	0.0036	17	c.286 others(34): Show c.286-4027_286-4011dupAAAAAAAAAAAAAAAAA	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28935438	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	312	0.0032	17	c.-8+ others(34): Show c.-8+20670_-8+20671insCACACACACACACACAC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(10): Show ACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	312	0.0032	17	c.-8+ others(34): Show c.-8+20700_-8+20701insACACACACACACCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29037879	A A	ATGTTGCT others(10): Show ATGTTGCTACATATGTAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01123.hp1 others(7): Show HG01074.hp1 HG01099.hp1 HG01123.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01981.hp2 HG02602.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 a0001c0001t0004 a0001c0001t0012 a0001c0001t0016	a0001c0001t0004g0295 a0001c0001t0004g0298 a0001c0001t0004g0301 others(7): Show a0001c0001t0004g0295 a0001c0001t0004g0298 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0311 a0001c0001t0012g0297 a0001c0001t0012g0299 a0001c0001t0012g0300 a0001c0001t0016g0294 a0001c0001t0016g0296	10	312	0.0321	17	c.146 others(36): Show c.1464-1372_1464-1371insTGCTACATATGTACTGT	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	29061572	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02683.hp2 HG00408.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0078 a0001c0001t0001g0020 a0001c0001t0001g0078	2	312	0.0064	17	c.200 others(36): Show c.2007+1098_2007+1114dupTTTTTTTTTTTTTTTTT	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

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