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
DYNC2H1_chr11_103104426_103484863	103483022	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03130.hp2 HG02280.hp1 HG03130.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0259 a0002c0009t0001g0261 a0002c0009t0001g0259 a0002c0009t0001g0261	2	262	0.0076	18	c.37 others(29): Show c.3769_*3770insAAAAAAAAAAAAAAAAAA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding		3160		chr11	TogoVar
DYNC2I1_chr7_158851558_158951189	158937622	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0010 a0010	a0010c0028 a0010c0028	a0010c0028t0023 a0010c0028t0023	a0010c0028t0023g0237 a0010c0028t0023g0237	1	274	0.0037	18	c.277 others(37): Show c.2778+3086_2778+3087insAAAAAAAAAAAAAAAAAA	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(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG03098.hp2 HG02055.hp2 HG02280.hp2 HG03098.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0067 a0001c0007t0001g0070 a0001c0007t0001g0094 a0001c0007t0001g0067 a0001c0007t0001g0070 a0001c0007t0001g0094	3	368	0.0082	18	c.186 others(35): Show c.186+6835_186+6852dupTTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01169.hp2 NA18948.hp1 others(5): Show HG00621.hp2 HG01169.hp2 NA18948.hp1 NA18961.hp2 NA19063.hp2 NA19084.hp2 NA19091.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0006t0001 a0001c0011t0001 a0001c0001t0001 a0001c0006t0001 a0001c0011t0001	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(5): Show a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0250 a0001c0006t0001g0176 a0001c0011t0001g0175	8	368	0.0217	18	c.186 others(35): Show c.186+1188_186+1205dupTTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2LI1_chr2_43769039_43815010	43775854	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp2 HG02155.hp2 others(1): Show HG00733.hp2 HG01261.hp2 HG02155.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 others(1): Show a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0004g0117	4	294	0.0136	18	c.9-9 others(29): Show c.9-915_9-898dupTTTTTTTTTTTTTTTTTT	DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNC2LI1_chr2_43769039_43815010	43782011	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG02896.hp2 others(6): Show HG02055.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp1 NA18522.hp2 NA18979.hp2 NA19043.hp1 NA19068.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0002 a0002c0002t0003 a0002c0008t0001 a0002c0002t0002 a0002c0002t0003 a0002c0008t0001	a0002c0002t0002g0037 a0002c0002t0002g0041 a0002c0002t0002g0125 others(6): Show a0002c0002t0002g0037 a0002c0002t0002g0041 a0002c0002t0002g0125 a0002c0002t0002g0133 a0002c0002t0002g0151 a0002c0002t0002g0159 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0008t0001g0244	9	294	0.0306	18	c.127 others(35): Show c.127-1501_127-1484dupGTGTGTGTGTGTGTGTGT	DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNLT1_chr6_158631474_158649743	158636051	G G	GTATATAT others(11): Show GTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	18	c.77 others(27): Show c.775_*776insTATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		422		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37417506	C C	CTTTTCTT others(11): Show CTTTTCTTTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00597.hp1 others(39): Show HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00733.hp1 HG01074.hp2 HG01243.hp2 HG01255.hp2 HG01361.hp2 HG01952.hp1 HG02027.hp2 HG02145.hp2 HG02155.hp2 HG02451.hp1 HG02486.hp1 HG03041.hp1 HG03130.hp2 HG03710.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18953.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18977.hp1 NA18989.hp2 NA19002.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19086.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0047 a0001c0001t0049 a0001c0001t0052 a0001c0001t0054 a0001c0001t0073 a0001c0001t0075 a0001c0001t0117 a0001c0001t0119 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131 a0001c0001t0140 a0001c0002t0028 a0001c0002t0074	a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0117 others(39): Show a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0003g0120 a0001c0001t0003g0200 a0001c0001t0004g0119 a0001c0001t0010g0334 a0001c0001t0012g0115 a0001c0001t0012g0116 a0001c0001t0012g0121 a0001c0001t0012g0124 a0001c0001t0012g0125 a0001c0001t0020g0196 a0001c0001t0035g0197 a0001c0001t0036g0201 a0001c0001t0036g0230 a0001c0001t0039g0208 a0001c0001t0047g0012 a0001c0001t0049g0273 a0001c0001t0052g0216 a0001c0001t0054g0112 a0001c0001t0073g0335 a0001c0001t0075g0250 a0001c0001t0117g0213 a0001c0001t0119g0199 a0001c0001t0128g0202 a0001c0001t0130g0217 a0001c0001t0131g0191 a0001c0001t0140g0231 a0001c0002t0028g0329 a0001c0002t0074g0330	42	350	0.1200	18	c.-76 others(35): Show c.-76-2782_-76-2765dupCTTTTTCTTTTTCTTTTT	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(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02027.hp1 HG03195.hp2 others(4): Show HG01433.hp2 HG02027.hp1 HG03195.hp2 HG03831.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0030 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0030 a0001c0001t0031 a0001c0001t0044 a0001c0001t0070	a0001c0001t0001g0045 a0001c0001t0001g0095 a0001c0001t0005g0150 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0095 a0001c0001t0005g0150 a0001c0001t0030g0044 a0001c0001t0031g0033 a0001c0001t0044g0251 a0001c0001t0070g0101	7	350	0.0200	18	c.10+ others(35): Show c.10+19752_10+19769dupTTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37458268	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02109.hp1 HG03471.hp2 others(1): Show HG01981.hp2 HG02109.hp1 HG03471.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0058 a0001c0001t0149 others(1): Show a0001c0001t0005 a0001c0001t0058 a0001c0001t0149 a0001c0001t0159	a0001c0001t0005g0161 a0001c0001t0058g0315 a0001c0001t0149g0136 others(1): Show a0001c0001t0005g0161 a0001c0001t0058g0315 a0001c0001t0149g0136 a0001c0001t0159g0172	4	350	0.0114	18	c.11- others(35): Show c.11-14394_11-14377dupGTGTGTGTGTGTGTGTGT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37463203	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp2 HG01952.hp2 others(21): Show HG00140.hp1 HG00673.hp2 HG01952.hp2 HG02040.hp2 HG02165.hp1 HG02451.hp2 HG03688.hp2 HG04204.hp2 HG04228.hp2 NA18955.hp1 NA18957.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18980.hp1 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19057.hp2 NA19064.hp2 NA19078.hp2 NA19081.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0046 a0001c0001t0078 a0001c0001t0089 a0001c0001t0107 a0001c0001t0148	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0058 others(21): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0100 a0001c0001t0005g0108 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0007g0140 a0001c0001t0014g0047 a0001c0001t0025g0344 a0001c0001t0030g0093 a0001c0001t0031g0041 a0001c0001t0046g0090 a0001c0001t0078g0034 a0001c0001t0089g0270 a0001c0001t0107g0038 a0001c0001t0148g0145	24	350	0.0686	18	c.11- others(33): Show c.11-9468_11-9451dupGTGTGTGTGTGTGTGTGT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479589	G G	GTTTTGTT others(11): Show GTTTTGTTTTTGTTTTTGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0163 a0001c0001t0005g0163	1	350	0.0029	18	c.301 others(35): Show c.301-1038_301-1021dupGTTTTTGTTTTTGTTTTT	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(11): Show GTTTTTGTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	350	0.0029	18	c.301 others(35): Show c.301-1021_301-1020insGTTTTTGTTTTTTTTTTT	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(11): Show GTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0155	a0001c0001t0155g0014 a0001c0001t0155g0014	1	350	0.0029	18	c.121 others(37): Show c.1213-4105_1213-4104insGTTTTTTTTTTTTTTTTT	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(11): Show GTTTTTTTTGTTTTTGTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0316 a0001c0001t0057g0316	1	350	0.0029	18	c.72 others(29): Show c.7213_*7214insGTTTTTGTTTTTTTTTTT	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(11): Show GTTTTTTTTGTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0088 a0001c0001t0061 a0001c0001t0088	a0001c0001t0061g0022 a0001c0001t0088g0023 a0001c0001t0061g0022 a0001c0001t0088g0023	2	350	0.0057	18	c.72 others(29): Show c.7213_*7214insGTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7214	INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTGTGTG others(11): Show ATTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02280.hp2 HG02818.hp2 others(2): Show HG00323.hp2 HG02280.hp2 HG02818.hp2 NA19005.hp1 NA19011.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0010 a0004c0011 a0001c0001 a0001c0010 a0004c0011	a0001c0001t0001 a0001c0010t0001 a0004c0011t0001 a0001c0001t0001 a0001c0010t0001 a0004c0011t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0010t0001g0059 others(2): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0010t0001g0059 a0004c0011t0001g0257 a0004c0011t0001g0258	5	414	0.0121	18	c.132 others(35): Show c.132+7250_132+7251insTTGTGTGTGTGTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYRK4_chr12_4557208_4618875	4586729	C C	CACACACA others(11): Show CACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	414	0.0024	18	c.133 others(35): Show c.133-2205_133-2204insCACACACACACACAGACA	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
DYRK4_chr12_4557208_4618875	4601876	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0353 a0001c0003t0001g0353	1	414	0.0024	18	c.112 others(37): Show c.1126+2106_1126+2123dupGTGTGTGTGTGTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
DYSF_chr2_71448561_71691763	71571028	A A	ACACACAG others(11): Show ACACACAGATCACACCCAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp2 HG03139.hp1 others(1): Show HG01109.hp1 HG02818.hp2 HG03139.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0004c0008 a0001c0006 a0004c0008	a0001c0006t0003 a0004c0008t0001 a0001c0006t0003 a0004c0008t0001	a0001c0006t0003g0007 a0004c0008t0001g0011 a0004c0008t0001g0032 others(1): Show a0001c0006t0003g0007 a0004c0008t0001g0011 a0004c0008t0001g0032 a0004c0008t0001g0052	4	192	0.0208	18	c.317 others(35): Show c.3174+296_3174+297insCACACCCAGCACACAGAT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71543930	G G	GGGAGAGG others(11): Show GGGAGAGGGAGAGGGAGAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0084 a0001c0084	a0001c0084t0001 a0001c0084t0001	a0001c0084t0001g0038 a0001c0084t0001g0038	1	208	0.0048	18	c.157 others(37): Show c.1576+4727_1576+4744dupCGGAGAGGGAGAGGGAGA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	17/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71571028	A A	ACACACAG others(11): Show ACACACAGATCACACCCAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp2 HG03139.hp1 others(1): Show HG01109.hp1 HG02818.hp2 HG03139.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0011 a0001c0006 a0004c0011	a0001c0006t0003 a0004c0011t0001 a0001c0006t0003 a0004c0011t0001	a0001c0006t0003g0204 a0004c0011t0001g0081 a0004c0011t0001g0103 others(1): Show a0001c0006t0003g0204 a0004c0011t0001g0081 a0004c0011t0001g0103 a0004c0011t0001g0146	4	208	0.0192	18	c.322 others(35): Show c.3228+296_3228+297insCACACCCAGCACACAGAT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYTN_chr2_206646621_206723396	206651371	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG02897.hp1 others(4): Show HG01884.hp1 HG02895.hp1 HG02897.hp1 NA18612.hp1 NA18954.hp1 NA19076.hp1 NA19082.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0013	a0001c0001 a0002c0002 a0005c0008 others(1): Show a0001c0001 a0002c0002 a0005c0008 a0013c0021	a0001c0001t0001 a0002c0002t0001 a0005c0008t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0005c0008t0001 a0013c0021t0001	a0001c0001t0001g0299 a0002c0002t0001g0029 a0002c0002t0001g0295 others(3): Show a0001c0001t0001g0299 a0002c0002t0001g0029 a0002c0002t0001g0295 a0002c0002t0001g0303 a0005c0008t0001g0005 a0013c0021t0001g0202	7	382	0.0183	18	c.44 others(27): Show c.446_*447insCACACACACACACACACA	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding		249		chr2	TogoVar
DYTN_chr2_206646621_206723396	206675145	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01081.hp2 others(37): Show HG00408.hp1 HG00741.hp2 HG01081.hp2 HG01192.hp1 HG01255.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp2 HG02165.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02735.hp2 HG02896.hp2 HG03669.hp1 HG03831.hp2 NA18612.hp1 NA18906.hp1 NA18947.hp2 NA18965.hp2 NA18970.hp1 NA18972.hp1 NA18980.hp2 NA18984.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19058.hp1 NA19063.hp1 NA19072.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0002 a0015c0020 a0001c0001 a0002c0002 a0015c0020	a0001c0001t0001 a0002c0002t0001 a0015c0020t0001 a0001c0001t0001 a0002c0002t0001 a0015c0020t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0258 others(36): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0344 a0002c0002t0001g0007 a0002c0002t0001g0018 a0002c0002t0001g0027 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0050 a0002c0002t0001g0099 a0002c0002t0001g0106 a0002c0002t0001g0126 a0002c0002t0001g0150 a0002c0002t0001g0195 a0002c0002t0001g0225 a0002c0002t0001g0231 a0002c0002t0001g0237 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0262 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0285 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0001g0311 a0002c0002t0001g0315 a0002c0002t0001g0327 a0002c0002t0001g0339 a0015c0020t0001g0298	40	382	0.1047	18	c.981 others(35): Show c.981-9117_981-9116insTATACACACACACACACA	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	9/11			chr2	TogoVar
DYTN_chr2_206646621_206723396	206675145	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18992.hp2 NA20129.hp1 HG04199.hp1 NA18992.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0268 a0002c0002t0001g0293 a0002c0002t0001g0335 a0002c0002t0001g0268 a0002c0002t0001g0293 a0002c0002t0001g0335	3	382	0.0079	18	c.981 others(35): Show c.981-9117_981-9116insTACACACACACACACACA	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	9/11			chr2	TogoVar
DYTN_chr2_206646621_206723396	206717043	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02056.hp2 HG02083.hp1 others(8): Show HG00423.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp1 HG03486.hp2 NA18966.hp1 NA18981.hp1 NA18988.hp1 NA19010.hp1 NA19063.hp2 NA19083.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0017	a0001c0001 a0002c0002 a0010c0010 others(1): Show a0001c0001 a0002c0002 a0010c0010 a0017c0018	a0001c0001t0001 a0002c0002t0001 a0010c0010t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0010c0010t0001 a0017c0018t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0002c0002t0001g0311 a0010c0010t0001g0021 a0017c0018t0001g0023	11	382	0.0288	18	c.19+ others(33): Show c.19+1200_19+1217dupGTGTGTGTGTGTGTGTGT	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	1/11			chr2	TogoVar
DYTN_chr2_206646621_206723396	206721150	C C	CAATAATA others(11): Show CAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02630.hp2 others(12): Show HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03225.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18612.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0352 others(10): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0352 a0001c0001t0001g0368 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0003g0198 a0003c0003t0001g0001 a0003c0003t0001g0206 a0003c0003t0001g0209 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0216	15	382	0.0393	18	c.-28 others(29): Show c.-2889_-2872dupATTATTATTATTATTATT	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding		2755		chr2	TogoVar
DZANK1_chr20_18378367_18472030	18456610	T T	TCCTAGGC others(11): Show TCCTAGGCAACCACTGATC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0090 a0002c0004t0003g0090	1	374	0.0027	18	c.264 others(35): Show c.264-1250_264-1249insGATCAGTGGTTGCCTAGG	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	3/20			chr20	TogoVar
DZIP1_chr13_95573202_95649706	95575590	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(74): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01175.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02015.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02165.hp1 HG02451.hp1 HG02615.hp1 HG02970.hp1 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19010.hp2 NA19012.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0008 others(1): Show a0001c0001 a0003c0003 a0006c0008 a0006c0011	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0025 a0001c0001t0027 a0001c0001t0038 a0003c0003t0001 a0006c0008t0001 a0006c0011t0001	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0028 others(73): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0078 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0007g0302 a0001c0001t0007g0309 a0001c0001t0007g0310 a0001c0001t0007g0318 a0001c0001t0007g0319 a0001c0001t0012g0038 a0001c0001t0025g0242 a0001c0001t0027g0098 a0001c0001t0038g0011 a0003c0003t0001g0118 a0006c0008t0001g0177 a0006c0011t0001g0181	77	382	0.2016	18	c.66 others(29): Show c.6643_*6644insACACACACACACACACAC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding		2611		chr13	TogoVar
DZIP1_chr13_95573202_95649706	95610111	T T	TGTGTGTG others(11): Show TGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG02486.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0324 a0001c0001t0002g0325	2	382	0.0052	18	c.136 others(35): Show c.1364-599_1364-598insTCTCTCTCTCACACACAC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	12/22			chr13	TogoVar
DZIP1_chr13_95573202_95649706	95610111	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	382	0.0026	18	c.136 others(35): Show c.1364-599_1364-598insTCACACACACACACACAC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	12/22			chr13	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01255.hp2 HG02015.hp1 others(6): Show HG00544.hp2 HG01255.hp2 HG02015.hp1 HG02300.hp1 HG03834.hp1 NA18612.hp1 NA18959.hp1 NA18975.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0038 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0002g0073	9	318	0.0283	18	c.376 others(35): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	318	0.0031	18	c.376 others(35): Show c.376-1563_376-1562insCTCTCTCTCTCTCTGTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0241	1	318	0.0031	18	c.376 others(35): Show c.376-1563_376-1562insCTCTCTCTCTCTGTGTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(11): Show ACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	318	0.0031	18	c.696 others(35): Show c.696+1880_696+1881insACACACACACACACTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(11): Show ACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02572.hp1 HG03139.hp2 HG00639.hp1 HG02572.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0008g0020 a0001c0002t0001g0234 a0001c0002t0001g0244 a0001c0001t0008g0020 a0001c0002t0001g0234 a0001c0002t0001g0244	3	318	0.0094	18	c.696 others(35): Show c.696+1880_696+1881insACACACACACACTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(11): Show ACACACACACACATACACT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0226 a0001c0002t0001g0226	1	318	0.0031	18	c.696 others(35): Show c.696+1880_696+1881insACACACACACATACACTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(11): Show ACACACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19005.hp2 HG04115.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0001g0118 a0001c0001t0001g0166	2	318	0.0063	18	c.696 others(35): Show c.696+1880_696+1881insACACACACACTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(11): Show ACACACACACATACACTCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	318	0.0031	18	c.696 others(35): Show c.696+1880_696+1881insACACACACATACACTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(11): Show ACACACACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18988.hp1 NA19012.hp1 HG02976.hp2 NA18988.hp1 NA19012.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0005 a0001c0001t0001 a0004c0005t0005	a0001c0001t0001g0121 a0001c0001t0001g0142 a0004c0005t0005g0018 a0001c0001t0001g0121 a0001c0001t0001g0142 a0004c0005t0005g0018	3	318	0.0094	18	c.696 others(35): Show c.696+1880_696+1881insACACACACTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAT others(11): Show ACACACATACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02293.hp1 HG01978.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0251 a0001c0002t0001g0252	2	318	0.0063	18	c.696 others(35): Show c.696+1880_696+1881insACACATACACTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACTC others(11): Show ACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	318	0.0031	18	c.696 others(35): Show c.696+1880_696+1881insACACTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108653507	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0293 a0008c0011t0001g0293	1	318	0.0031	18	c.203 others(35): Show c.2034-620_2034-603dupATATATATATATATATAT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	18/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F3_chr6_20396879_20498714	20424210	G G	GGTATGTG others(11): Show GGTATGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02074.hp1 HG00597.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0194 a0001c0001t0003g0207 a0001c0001t0002g0194 a0001c0001t0003g0207	2	336	0.0060	18	c.393 others(37): Show c.393+21587_393+21588insATGTGTGTGTGTGTGTGT	E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
E2F5_chr8_85172154_85219518	85180511	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02083.hp1 HG03579.hp2 others(1): Show HG01257.hp1 HG02083.hp1 HG03579.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0045 a0001c0002t0001g0205 a0002c0003t0001g0029 others(1): Show a0001c0002t0001g0045 a0001c0002t0001g0205 a0002c0003t0001g0029 a0002c0003t0001g0030	4	336	0.0119	18	c.234 others(35): Show c.234+2884_234+2901dupATATATATATATATATAT	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F6_chr2_11439375_11471161	11468851	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	366	0.0027	18	c.-29 others(29): Show c.-2973_-2972insATATATATATATATATAT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2691		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG03704.hp1 HG02074.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0002 a0001c0001t0002g0012	2	366	0.0055	18	c.-29 others(29): Show c.-2977_-2976insATATATATTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02602.hp1 HG02735.hp2 others(2): Show HG02273.hp2 HG02602.hp1 HG02735.hp2 NA18973.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0173 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0208	5	366	0.0137	18	c.-29 others(29): Show c.-2977_-2976insATATATATATTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01168.hp1 HG01952.hp2 others(6): Show HG00738.hp2 HG01168.hp1 HG01952.hp2 HG02056.hp2 HG03688.hp1 NA18974.hp1 NA18984.hp2 NA18989.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0142 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0160 a0001c0001t0002g0172 a0001c0001t0011g0041	9	366	0.0246	18	c.-29 others(29): Show c.-2977_-2976insATATATATATATTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E4F1_chr16_2218591_2240742	2238235	T T	TCTGCCCC others(11): Show TCTGCCCCGGCCCCTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02055.hp1 others(7): Show HG01109.hp2 HG01884.hp1 HG02055.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0006 a0002c0004t0001g0006	10	392	0.0255	18	c.26 others(29): Show c.2663_*2664insCTGCCCCGGCCCCTGCCC	E4F1	ENSG00000167967.16	transcript	ENST00000301727.9	protein_coding		2494		chr16	TogoVar

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