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
DYNC1LI1_chr3_32520974_32575858	32537937	A A	ATAATTTA others(10): Show ATAATTTATATATATAAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp2 NA19240.hp2 HG02258.hp2 HG03098.hp2 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0005 a0001c0001 a0009c0005	a0001c0001t0001 a0001c0001t0008 a0009c0005t0001 a0001c0001t0001 a0001c0001t0008 a0009c0005t0001	a0001c0001t0001g0188 a0001c0001t0008g0187 a0009c0005t0001g0013 a0001c0001t0001g0188 a0001c0001t0008g0187 a0009c0005t0001g0013	3	336	0.0089	17	c.739 others(32): Show c.739-834_739-833insATTATATATATAAATTA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC2H1_chr11_103104426_103484863	103309168	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03195.hp2 HG03486.hp1 others(1): Show HG02818.hp2 HG03195.hp2 HG03486.hp1 HG03579.hp2	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0005 a0002c0007 a0002c0045 others(1): Show a0001c0005 a0002c0007 a0002c0045 a0022c0040	a0001c0005t0001 a0002c0007t0001 a0002c0045t0001 others(1): Show a0001c0005t0001 a0002c0007t0001 a0002c0045t0001 a0022c0040t0001	a0001c0005t0001g0121 a0002c0007t0001g0010 a0002c0045t0001g0221 others(1): Show a0001c0005t0001g0121 a0002c0007t0001g0010 a0002c0045t0001g0221 a0022c0040t0001g0208	4	262	0.0153	17	c.114 others(38): Show c.11493+1345_11493+1361dupTTTTTTTTTTTTTTTTT	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	78/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103483022	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03471.hp1 HG02486.hp1 HG03471.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0251 a0002c0009t0001g0252 a0002c0009t0001g0251 a0002c0009t0001g0252	2	262	0.0076	17	c.37 others(28): Show c.3769_*3770insAAAAAAAAAAAAAAAAA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding		3160		chr11	TogoVar
DYNC2I1_chr7_158851558_158951189	158858984	T T	TCCCCTTT others(10): Show TCCCCTTTTCCTCCCCTC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0240 a0003c0003t0007g0240	1	274	0.0037	17	c.15+ others(32): Show c.15+2238_15+2239insTTTTCCTCCCCTCCCCC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158917552	C C	CTGGTTGA others(10): Show CTGGTTGAGATTAAGGAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	274	0.0037	17	c.179 others(36): Show c.1792-1188_1792-1187insTGGTTGAGATTAAGGAT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24			chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158937622	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0022 a0003c0027t0022	a0003c0027t0022g0263 a0003c0027t0022g0263	1	274	0.0037	17	c.277 others(36): Show c.2778+3086_2778+3087insAAAAAAAAAAAAAAAAA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I2_chr9_128628653_128661847	128649688	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0071 a0001c0007t0001g0071	1	368	0.0027	17	c.186 others(34): Show c.186+6836_186+6852dupTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03225.hp1 HG03490.hp2 others(4): Show HG02683.hp2 HG03225.hp1 HG03490.hp2 HG03688.hp2 HG04115.hp1 NA19012.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0168 a0001c0001t0001g0257 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0168 a0001c0001t0001g0257 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0002t0001g0169	7	368	0.0190	17	c.186 others(34): Show c.186+1189_186+1205dupTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2LI1_chr2_43769039_43815010	43775854	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02922.hp2 HG03098.hp1 others(2): Show HG02129.hp2 HG02922.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0004 a0003c0003t0002 a0002c0002t0002 a0002c0002t0004 a0003c0003t0002	a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 others(2): Show a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0004g0116 a0003c0003t0002g0105	5	294	0.0170	17	c.9-9 others(28): Show c.9-914_9-898dupTTTTTTTTTTTTTTTTT	DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(10): Show ATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	17	c.75 others(26): Show c.757_*758insAAATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(10): Show ATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	17	c.75 others(26): Show c.757_*758insAAAAATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT5_chr1_66747459_66784047	66781010	A A	ACAGCCAC others(10): Show ACAGCCACCGCTGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(125): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18948.hp2 NA18956.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA19001.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19079.hp2 NA19085.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0004 a0001c0001 a0004c0005 a0005c0004	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0004c0005t0001 a0005c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0011g0013 a0001c0001t0011g0050 a0001c0001t0014g0041 a0001c0001t0019g0010 a0001c0001t0020g0126 a0001c0001t0022g0052 a0001c0001t0023g0001 a0004c0005t0001g0145 a0005c0004t0001g0004	128	402	0.3184	17	c.35 others(28): Show c.3556_*3557insCAGCCACCGCTGTTCTG	DYNLT5	ENSG00000152760.10	transcript	ENST00000282670.7	protein_coding		1964		chr1	TogoVar
DYNLT5_chr1_66747459_66784047	66781010	A A	ACAGGCAC others(10): Show ACAGGCACCGCTGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00741.hp1 NA18961.hp2 others(2): Show HG00642.hp2 HG00741.hp1 NA18961.hp2 NA18967.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0139 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0155	5	402	0.0124	17	c.35 others(28): Show c.3556_*3557insCAGGCACCGCTGTTCTG	DYNLT5	ENSG00000152760.10	transcript	ENST00000282670.7	protein_coding		1964		chr1	TogoVar
DYRK1A_chr21_37361773_37531358	37417530	T T	TTTTTCTT others(10): Show TTTTTCTTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18960.hp1 HG01175.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0232 a0001c0001t0010g0333 a0001c0001t0003g0232 a0001c0001t0010g0333	2	350	0.0057	17	c.-76 others(34): Show c.-76-2765_-76-2764insCTTTTTCTTTTTCTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp2 HG01952.hp2 others(16): Show HG00738.hp1 HG01256.hp2 HG01952.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02293.hp1 HG02451.hp1 HG02717.hp1 HG03927.hp2 NA18939.hp1 NA18957.hp2 NA18967.hp1 NA18983.hp1 NA19060.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 others(11): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 a0001c0001t0027 a0001c0001t0032 a0001c0001t0065 a0001c0001t0092 a0001c0001t0096 a0001c0001t0101 a0001c0001t0114 a0001c0001t0117 a0001c0001t0156 a0001c0001t0164 a0001c0001t0165	a0001c0001t0001g0017 a0001c0001t0001g0065 a0001c0001t0001g0075 others(16): Show a0001c0001t0001g0017 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0010g0332 a0001c0001t0024g0176 a0001c0001t0027g0331 a0001c0001t0032g0078 a0001c0001t0065g0085 a0001c0001t0092g0098 a0001c0001t0096g0076 a0001c0001t0101g0149 a0001c0001t0114g0066 a0001c0001t0117g0213 a0001c0001t0156g0010 a0001c0001t0164g0173 a0001c0001t0165g0174	19	350	0.0543	17	c.10+ others(34): Show c.10+19753_10+19769dupTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479606	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0052 a0001c0001t0099g0052	1	350	0.0029	17	c.301 others(34): Show c.301-1027_301-1026insTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(10): Show GTTTTTGTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02572.hp2 HG03471.hp2 others(2): Show HG00673.hp2 HG02572.hp2 HG03471.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0025 a0001c0001t0029 others(2): Show a0001c0001t0005 a0001c0001t0025 a0001c0001t0029 a0001c0001t0078 a0001c0001t0115	a0001c0001t0005g0161 a0001c0001t0025g0344 a0001c0001t0029g0160 others(2): Show a0001c0001t0005g0161 a0001c0001t0025g0344 a0001c0001t0029g0160 a0001c0001t0078g0034 a0001c0001t0115g0159	5	350	0.0143	17	c.301 others(34): Show c.301-1021_301-1020insGTTTTTGTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479613	T T	TTTTTGTT others(10): Show TTTTTGTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0031 a0001c0001t0069g0031	1	350	0.0029	17	c.301 others(34): Show c.301-1021_301-1020insGTTTTTGTTTTTGTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37501166	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG02965.hp1 HG02630.hp2 HG02922.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0013 a0001c0001t0023g0015 a0001c0001t0023g0016 a0001c0001t0023g0013 a0001c0001t0023g0015 a0001c0001t0023g0016	3	350	0.0086	17	c.121 others(36): Show c.1213-4105_1213-4104insGTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519736	G G	GTTTTTTT others(10): Show GTTTTTTTTGTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG01891.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0158 a0001c0001t0060 a0001c0001t0158	a0001c0001t0060g0021 a0001c0001t0158g0298 a0001c0001t0060g0021 a0001c0001t0158g0298	2	350	0.0057	17	c.72 others(28): Show c.7213_*7214insGTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7214	INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519736	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0313 a0001c0001t0059g0313	1	350	0.0029	17	c.72 others(28): Show c.7212_*7228dupTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7229	INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK3_chr1_206630536_206660158	206644031	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0111 a0001c0001t0006g0111	1	396	0.0025	17	c.190 others(34): Show c.190-3352_190-3336dupTTTTTTTTTTTTTTTTT	DYRK3	ENSG00000143479.18	transcript	ENST00000367109.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
DYSF_chr2_71448561_71691763	71543859	A A	AGGGAGAG others(10): Show AGGGAGAGGGAGACCGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02630.hp1 others(6): Show HG02280.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp2 NA18906.hp1 NA20300.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0018	a0001c0007 a0001c0018 a0001c0019 others(3): Show a0001c0007 a0001c0018 a0001c0019 a0003c0062 a0005c0060 a0018c0059	a0001c0007t0001 a0001c0007t0002 a0001c0018t0001 others(4): Show a0001c0007t0001 a0001c0007t0002 a0001c0018t0001 a0001c0019t0001 a0003c0062t0001 a0005c0060t0002 a0018c0059t0001	a0001c0007t0001g0063 a0001c0007t0002g0014 a0001c0007t0002g0016 others(6): Show a0001c0007t0001g0063 a0001c0007t0002g0014 a0001c0007t0002g0016 a0001c0007t0002g0142 a0001c0018t0001g0004 a0001c0019t0001g0044 a0003c0062t0001g0102 a0005c0060t0002g0143 a0018c0059t0001g0093	9	192	0.0469	17	c.148 others(36): Show c.1480+4633_1480+4649dupCCGTGGGGAGAGGGAGA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	16/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71617878	G G	GGGTGTGT others(10): Show GGGTGTGTGTGTGGTAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp1 HG03225.hp2 others(1): Show HG02717.hp2 HG02976.hp1 HG03225.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0009 a0003c0062 a0003c0084 a0001c0009 a0003c0062 a0003c0084	a0001c0009t0001 a0001c0009t0002 a0003c0062t0001 others(1): Show a0001c0009t0001 a0001c0009t0002 a0003c0062t0001 a0003c0084t0002	a0001c0009t0001g0053 a0001c0009t0002g0025 a0003c0062t0001g0102 others(1): Show a0001c0009t0001g0053 a0001c0009t0002g0025 a0003c0062t0001g0102 a0003c0084t0002g0012	4	192	0.0208	17	c.441 others(36): Show c.4410+4478_4410+4479insTGGTAGAGGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71618457	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGGTAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0009 a0009	a0009c0081 a0009c0081	a0009c0081t0001 a0009c0081t0001	a0009c0081t0001g0101 a0009c0081t0001g0101	1	192	0.0052	17	c.441 others(36): Show c.4410+5068_4410+5084dupTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71543859	A A	AGGGAGAG others(10): Show AGGGAGAGGGAGACCGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02630.hp1 others(6): Show HG02280.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp2 NA18906.hp2 NA20300.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0020	a0001c0007 a0001c0019 a0001c0060 others(3): Show a0001c0007 a0001c0019 a0001c0060 a0003c0065 a0006c0063 a0020c0062	a0001c0007t0001 a0001c0007t0002 a0001c0007t0004 others(5): Show a0001c0007t0001 a0001c0007t0002 a0001c0007t0004 a0001c0019t0002 a0001c0060t0001 a0003c0065t0001 a0006c0063t0001 a0020c0062t0001	a0001c0007t0001g0139 a0001c0007t0002g0148 a0001c0007t0004g0020 others(6): Show a0001c0007t0001g0139 a0001c0007t0002g0148 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0019t0002g0187 a0001c0060t0001g0197 a0003c0065t0001g0110 a0006c0063t0001g0140 a0020c0062t0001g0045	9	208	0.0433	17	c.157 others(36): Show c.1576+4633_1576+4649dupCCGTGGGGAGAGGGAGA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	17/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71617878	G G	GGGTGTGT others(10): Show GGGTGTGTGTGTGGTAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp2 HG02976.hp2 others(2): Show HG02257.hp2 HG02717.hp2 HG02976.hp2 HG03225.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0012 a0001c0084 a0003c0065 others(1): Show a0001c0012 a0001c0084 a0003c0065 a0003c0090	a0001c0012t0001 a0001c0084t0001 a0003c0065t0001 others(1): Show a0001c0012t0001 a0001c0084t0001 a0003c0065t0001 a0003c0090t0001	a0001c0012t0001g0033 a0001c0012t0001g0147 a0001c0084t0001g0038 others(2): Show a0001c0012t0001g0033 a0001c0012t0001g0147 a0001c0084t0001g0038 a0003c0065t0001g0110 a0003c0090t0001g0136	5	208	0.0240	17	c.446 others(36): Show c.4465-2659_4465-2658insTGGTAGAGGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618457	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGGTAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0011 a0011	a0011c0087 a0011c0087	a0011c0087t0001 a0011c0087t0001	a0011c0087t0001g0090 a0011c0087t0001g0090	1	208	0.0048	17	c.446 others(36): Show c.4465-2069_4465-2053dupTGTGTGTGGTAGAGGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYTN_chr2_206646621_206723396	206717043	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA19005.hp1 HG03669.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0017 a0002c0002t0001g0018 a0001c0001t0001g0017 a0002c0002t0001g0018	2	382	0.0052	17	c.19+ others(32): Show c.19+1217_19+1218insGTGTGTGTGTGTGTGTG	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	1/11			chr2	TogoVar
DZIP1L_chr3_138056990_138120608	138114022	C C	CAAACAAG others(10): Show CAAACAAGCAGAATTGTA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	312	0.0032	17	c.-82 others(34): Show c.-82+1305_-82+1306insTACAATTCTGCTTGTTT	DZIP1L	ENSG00000158163.15	transcript	ENST00000327532.7	protein_coding	1/15			chr3	TogoVar
E2F5_chr8_85172154_85219518	85212918	C C	CTGTCATC others(10): Show CTGTCATCCAGGCTGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(214): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19059.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19082.hp2 NA19086.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0006 a0004c0007 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 a0003c0006t0001 a0004c0007t0001 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(190): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0002g0062 a0001c0002t0001g0019 a0001c0002t0001g0025 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0214 a0001c0002t0001g0232 a0001c0002t0001g0253 a0001c0002t0001g0294 a0001c0002t0001g0297 a0001c0002t0001g0299 a0001c0002t0001g0300 a0002c0003t0001g0009 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0038 a0002c0004t0001g0037 a0003c0006t0001g0152 a0004c0007t0001g0013 a0005c0005t0001g0180	217	336	0.6458	17	c.931 others(32): Show c.931+734_931+750dupTCATCCAGGCTGGAGTG	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F5_chr8_85172154_85219518	85212921	T T	TCATCCAG others(10): Show TCATCCAGGCTGGAGTGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp2 HG03209.hp1 others(1): Show HG01167.hp1 HG01884.hp2 HG03209.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 others(1): Show a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059	4	336	0.0119	17	c.931 others(32): Show c.931+733_931+734insCCATCCAGGCTGGAGTG	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F6_chr2_11439375_11471161	11468849	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	366	0.0027	17	c.-29 others(28): Show c.-2971_-2970insATATATATATATATATA	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2689		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468851	A A	AATTATAT others(10): Show AATTATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02109.hp1 HG02886.hp2 others(2): Show HG00438.hp1 HG02109.hp1 HG02886.hp2 NA18965.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0062 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0001t0001g0070	5	366	0.0137	17	c.-29 others(28): Show c.-2973_-2972insATATATATATATATAAT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2691		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 NA18968.hp1 NA18982.hp2 HG03490.hp1 NA18968.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0046 a0001c0001t0002g0157 a0001c0001t0002g0023 a0001c0001t0002g0046 a0001c0001t0002g0157	3	366	0.0082	17	c.-29 others(28): Show c.-2977_-2976insATATATATATTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	366	0.0027	17	c.-29 others(28): Show c.-2977_-2976insATATATATATATTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBAG9_chr8_109535173_109570996	109538047	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02818.hp1 others(5): Show HG02280.hp2 HG02559.hp2 HG02818.hp1 HG02896.hp1 HG03098.hp1 HG03209.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013	a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0080 others(5): Show a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0080 a0001c0001t0002g0189 a0001c0001t0004g0050 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0013g0023	8	356	0.0225	17	c.-24 others(28): Show c.-2430_-2429insTTTTTTTTTTTTTTTTT	EBAG9	ENSG00000147654.16	transcript	ENST00000337573.10	protein_coding		2125		chr8	TogoVar
EBF1_chr5_158690920_159104916	158969896	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	196	0.0051	17	c.554 others(38): Show c.554+103483_554+103499dupTCTTTCTTTCTTTCTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	159006647	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02273.hp1 HG01106.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0136 a0001c0001t0003g0105 a0001c0001t0001g0136 a0001c0001t0003g0105	2	196	0.0102	17	c.554 others(36): Show c.554+66732_554+66748dupTTTTTTTTTTTTTTTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25986001	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp2 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0017 a0001c0004t0003g0204 a0001c0004t0001g0017 a0001c0004t0003g0204	2	220	0.0091	17	c.551 others(36): Show c.551+47067_551+47083dupTTTTTTTTTTTTTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03139.hp2 HG01109.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0132 a0002c0002t0001g0135 a0001c0001t0001g0132 a0002c0002t0001g0135	2	438	0.0046	17	c.538 others(32): Show c.538-409_538-393dupAAAAAAAAAAAAAAAAA	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ECHDC1_chr6_127283712_127348609	127307648	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp2 HG01433.hp1 others(2): Show HG01106.hp2 HG01358.hp2 HG01433.hp1 HG01928.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0284 others(2): Show a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0284 a0001c0001t0002g0289 a0001c0001t0002g0291	5	358	0.0140	17	c.497 others(34): Show c.497+7167_497+7168insTTTTTTTTTTTTTTTTT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
ECHDC2_chr1_52890910_52926740	52891848	T T	TTGTACAT others(10): Show TTGTACATTTATTTATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02055.hp2 others(16): Show HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03486.hp2 HG03516.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0152 others(10): Show a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0152 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167	19	314	0.0605	17	c.46 others(28): Show c.4671_*4672insTTATAAATAAATGTACA	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding		4061		chr1	TogoVar
ECHS1_chr10_133357485_133378354	133373698	C C	CCGCCCGC others(10): Show CCGCCCGCCTGCCCGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	354	0.0028	17	c.-36 others(26): Show c.-366_-365insAGGCGGGCAGGCGGGCG	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding		345		chr10	TogoVar
ECHS1_chr10_133357485_133378354	133373719	G G	GCCTGCCC others(10): Show GCCTGCCCGCCTGCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	354	0.0028	17	c.-38 others(26): Show c.-387_-386insGCGGGCAGGCGGGCAGG	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding		366		chr10	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp2 NA18951.hp2 others(2): Show HG02647.hp2 HG03540.hp2 NA18951.hp2 NA18994.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0140 others(2): Show a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0140 a0001c0002t0002g0143 a0001c0002t0002g0144	5	400	0.0125	17	c.-28 others(34): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533322	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18997.hp2 NA18950.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0131 a0001c0002t0002g0132	2	400	0.0050	17	c.-28 others(34): Show c.-28+2610_-28+2611insATATATATATATATATA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA20805.hp2 HG02071.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0274 a0001c0001t0001g0275	2	400	0.0050	17	c.-28 others(34): Show c.-28+2604_-28+2605insATATATATATTTTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAATAT others(10): Show AAAAATATATATATACAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	400	0.0025	17	c.-28 others(34): Show c.-28+2604_-28+2605insATGTATATATATATTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	400	0.0025	17	c.-28 others(34): Show c.-28+2604_-28+2605insATATATATATATATTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar

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