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
DAP_chr5_10674230_10766234	10761392	C C	CGGGGGCG others(12): Show CGGGGGCGGGGGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	372	0.0027	19	c.-32 others(28): Show c.-325_-324insCGCCCCCGCCCCCGCCCCC	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding		159		chr5	TogoVar
DAP_chr5_10674230_10766234	10761473	A A	AGGCGGGG others(12): Show AGGCGGGGTCCCCGACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0214 a0001c0001t0008g0214	1	372	0.0027	19	c.-40 others(28): Show c.-406_-405insGCCAGTCGGGGACCCCGCC	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding		240		chr5	TogoVar
DARS1_chr2_135900881_135990626	135907242	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG02970.hp1 HG00639.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0016 a0001c0001t0016 a0001c0002t0016	a0001c0001t0016g0263 a0001c0002t0016g0261 a0001c0001t0016g0263 a0001c0002t0016g0261	2	378	0.0053	19	c.55 others(26): Show c.55_*73dupAAAAAAAAAAAAAAAAAAA	DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	16/16	73		chr2	TogoVar
DARS2_chr1_173819673_173863546	173842317	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03130.hp1 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0117 a0001c0001t0001g0092 a0001c0001t0001g0117	2	344	0.0058	19	c.112 others(38): Show c.1128+1344_1128+1345insTTTTTTTTTTTTTTTTTTG	DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	11/16			chr1	TogoVar
DARS2_chr1_173819673_173863546	173844669	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	344	0.0029	19	c.112 others(36): Show c.1129-539_1129-521dupAAAAAAAAAAAAAAAAAAA	DARS2	ENSG00000117593.12	transcript	ENST00000649689.2	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAW1_chr2_227866631_227929344	227918175	C C	CCATCCAT others(12): Show CCATCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG00738.hp2 others(16): Show HG00438.hp2 HG00642.hp1 HG00738.hp2 HG01243.hp2 HG01891.hp1 HG02132.hp1 HG02717.hp1 HG02735.hp2 HG03130.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18956.hp1 NA18973.hp2 NA18998.hp1 NA19054.hp2 NA19068.hp1 NA19082.hp1 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0001 a0001c0003t0002 a0003c0004t0001 a0001c0003t0001 a0001c0003t0002 a0003c0004t0001	a0001c0003t0001g0297 a0001c0003t0001g0316 a0001c0003t0002g0153 others(16): Show a0001c0003t0001g0297 a0001c0003t0001g0316 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0165 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0178 a0001c0003t0002g0181 a0001c0003t0002g0182 a0003c0004t0001g0309	19	340	0.0559	19	c.974 others(34): Show c.974-603_974-585dupATCCATCCATCCATCCATC	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAZAP2_chr12_51233826_51248933	51235998	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	438	0.0023	19	c.-29 others(30): Show c.-2910_-2909insTTTTTTTTTTTTTTTTTTT	DAZAP2	ENSG00000183283.16	transcript	ENST00000412716.8	protein_coding		2827		chr12	TogoVar
DBF4B_chr17_44703665_44757264	44725684	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp2 HG02615.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0002 a0001c0001t0002 a0003c0004t0002	a0001c0001t0002g0004 a0003c0004t0002g0005 a0001c0001t0002g0004 a0003c0004t0002g0005	2	288	0.0069	19	c.225 others(36): Show c.225+2664_225+2682dupTTTTTTTTTTTTTTTTTTT	DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DBNDD1_chr16_89999871_90024456	90013262	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 HG01433.hp1 others(13): Show HG01081.hp1 HG01168.hp2 HG01433.hp1 HG01943.hp2 HG01975.hp2 HG02071.hp1 HG02615.hp2 HG02809.hp2 HG02922.hp1 HG03486.hp1 HG04199.hp2 NA18954.hp1 NA18960.hp2 NA19004.hp2 NA19057.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0074 a0001c0001t0001g0101 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0223 a0001c0001t0003g0014	16	412	0.0388	19	c.32- others(34): Show c.32-3851_32-3833dupTTTTTTTTTTTTTTTTTTT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	1/3			chr16	TogoVar
DBX2_chr12_45009672_45056099	45054185	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	416	0.0024	19	c.-32 others(30): Show c.-3259_-3258insTTTTTTTTTTTTTTTTTTT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding		3087		chr12	TogoVar
DCAF10_chr9_37795797_37872664	37851693	G G	GCTGAGGC others(12): Show GCTGAGGCAGGAGAATCGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	356	0.0028	19	c.852 others(36): Show c.852-3086_852-3068dupCTGAGGCAGGAGAATCGCT	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCAF12L1_chrX_126544383_126557814	126557393	T T	TCAGATGA others(12): Show TCAGATGAAGGAAAACAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0012 a0007c0008t0012	a0007c0008t0012g0012 a0007c0008t0012g0012	1	284	0.0035	19	c.-47 others(30): Show c.-4786_-4785insCTTTGTTTTCCTTCATCTG	DCAF12L1	ENSG00000198889.5	transcript	ENST00000371126.3	protein_coding		4580		chrX	TogoVar
DCAF17_chr2_171429226_171490052	171467613	T T	TGTAATAC others(12): Show TGTAATACTTAGGAGGCTGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01891.hp2 others(2): Show HG01168.hp1 HG01169.hp2 HG01891.hp2 HG02258.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0036 a0001c0001t0001g0120 a0001c0001t0001g0134 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0007t0001g0124	5	360	0.0139	19	c.839 others(36): Show c.839-1273_839-1255dupTAATACTTAGGAGGCTGAG	DCAF17	ENSG00000115827.14	transcript	ENST00000375255.8	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCAF4_chr14_72921464_72964703	72928187	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02970.hp2 HG03098.hp2 others(1): Show HG02132.hp1 HG02970.hp2 HG03098.hp2 NA18983.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0011 a0001c0001 a0001c0002 a0011c0011	a0001c0001t0002 a0001c0002t0004 a0011c0011t0004 a0001c0001t0002 a0001c0002t0004 a0011c0011t0004	a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0002t0004g0319 others(1): Show a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0002t0004g0319 a0011c0011t0004g0267	4	396	0.0101	19	c.-9+ others(34): Show c.-9+1649_-9+1667dupTTTTTTTTTTTTTTTTTTT	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF4_chr14_72921464_72964703	72953732	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02809.hp2 HG02004.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0008 a0001c0001t0002 a0001c0007t0008	a0001c0001t0002g0099 a0001c0007t0008g0342 a0001c0001t0002g0099 a0001c0007t0008g0342	2	396	0.0051	19	c.809 others(34): Show c.809-431_809-430insAAAAAAAAATATATATATA	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF4_chr14_72921464_72964703	72953732	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02486.hp1 HG01175.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0009 a0001c0007t0008 a0001c0001t0009 a0001c0007t0008	a0001c0001t0009g0281 a0001c0007t0008g0344 a0001c0001t0009g0281 a0001c0007t0008g0344	2	396	0.0051	19	c.809 others(34): Show c.809-431_809-430insAAAAATATATATATATATA	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF4_chr14_72921464_72964703	72953732	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	396	0.0025	19	c.809 others(34): Show c.809-431_809-430insAAATATATATATATATATA	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DCAF4_chr14_72921464_72964703	72953732	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	396	0.0025	19	c.809 others(34): Show c.809-432_809-431insTATATATATATATATATAT	DCAF4	ENSG00000119599.17	transcript	ENST00000358377.7	protein_coding	9/13			chr14	TogoVar
DCAF5_chr14_69045881_69158119	69105944	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	244	0.0041	19	c.665 others(38): Show c.665+10421_665+10422insTATATATATATATATATAT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCAF6_chr1_167931683_168080836	167967714	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	266	0.0038	19	c.252 others(36): Show c.252+1001_252+1019dupTTTTTTTTTTTTTTTTTTT	DCAF6	ENSG00000143164.16	transcript	ENST00000367840.4	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCAF7_chr17_63545477_63599266	63588189	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02257.hp1 HG02965.hp1 HG01346.hp1 HG02257.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0005 a0001c0001t0016	a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0016g0198 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0016g0198	3	262	0.0115	19	c.857 others(34): Show c.857-795_857-794insTTTTTTTTTTTTTTTTTTT	DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF8L2_chrX_27585344_27754942	27587985	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0072 a0007c0007t0003g0072	1	262	0.0038	19	c.-27 others(30): Show c.-2797_-2796insAAAAAATATATATATATAT	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding		2358		chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27590991	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0143 a0002c0002t0002g0143	1	262	0.0038	19	c.-34 others(36): Show c.-342+551_-342+552insATATATATATATATATATA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4			chrX	TogoVar
DCAKD_chr17_45018344_45056632	45019602	G G	GAACCGAG others(12): Show GAACCGAGGACGTGGGAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0224 a0001c0001t0024g0224	1	408	0.0025	19	c.48 others(30): Show c.4830_*4831insGGCTCCCACGTCCTCGGTT	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		3741		chr17	TogoVar
DCC_chr18_52335197_53540899	52515606	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18979.hp1 HG03831.hp2 NA18979.hp1	a0002 a0002	a0002c0001 a0002c0013 a0002c0001 a0002c0013	a0002c0001t0002 a0002c0013t0001 a0002c0001t0002 a0002c0013t0001	a0002c0001t0002g0019 a0002c0013t0001g0068 a0002c0001t0002g0019 a0002c0013t0001g0068	2	114	0.0175	19	c.91+ others(38): Show c.91+174730_91+174748dupAAAAAAAAAAAAAAAAAAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52536349	G G	GTAGGCTG others(12): Show GTAGGCTGCTGCTCCTAAGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0067 a0002c0001t0001g0067	1	114	0.0088	19	c.91+ others(38): Show c.91+195477_91+195495dupTGCTGCTCCTAAGTTAGGC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52879412	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	114	0.0088	19	c.413 others(38): Show c.413-26621_413-26603dupTTTTTTTTTTTTTTTTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53226948	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03209.hp1 HG03579.hp2 HG02970.hp2 HG03209.hp1 HG03579.hp2	a0002 a0003 a0002 a0003	a0002c0012 a0003c0006 a0002c0012 a0003c0006	a0002c0012t0011 a0003c0006t0010 a0002c0012t0011 a0003c0006t0010	a0002c0012t0011g0037 a0003c0006t0010g0072 a0003c0006t0010g0111 a0002c0012t0011g0037 a0003c0006t0010g0072 a0003c0006t0010g0111	3	114	0.0263	19	c.191 others(40): Show c.1911+11352_1911+11353insATATATATATATATTTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53468363	T T	TTTATTTA others(12): Show TTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0046 a0003c0006t0009g0046	1	114	0.0088	19	c.373 others(36): Show c.3736+355_3736+356insATTTATTTATTTATTTATT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC1_chr11_30858603_31374739	31315374	G G	GTGGTACA others(12): Show GTGGTACAGTCTCGGCTCAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	152	0.0066	19	c.165 others(36): Show c.165-7485_165-7467dupGTGAGCCGAGACTGTACCA	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	3/38			chr11	TogoVar
DCDC1_chr11_30858603_31374739	31328814	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAGGATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0025 a0025	a0025c0017 a0025c0017	a0025c0017t0001 a0025c0017t0001	a0025c0017t0001g0121 a0025c0017t0001g0121	1	152	0.0066	19	c.-6- others(32): Show c.-6-529_-6-528insAATCCTTTTTTTTTTTTTT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	2/38			chr11	TogoVar
DCDC2C_chr2_3698575_3853008	3813068	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02970.hp1 NA18952.hp1 others(3): Show HG02602.hp1 HG02970.hp1 NA18952.hp1 NA18955.hp2 NA18977.hp1 NA18977.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0001 a0001c0002t0003 a0003c0008t0005 a0001c0002t0001 a0001c0002t0003 a0003c0008t0005	a0001c0002t0001g0006 a0001c0002t0001g0035 a0001c0002t0003g0005 others(3): Show a0001c0002t0001g0006 a0001c0002t0001g0035 a0001c0002t0003g0005 a0001c0002t0003g0125 a0001c0002t0003g0133 a0003c0008t0005g0257	6	324	0.0185	19	c.106 others(40): Show c.1065+27968_1065+27969insATATATATATATATATATA	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	10/10			chr2	TogoVar
DCLK1_chr13_35763652_36136382	35838065	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0149 a0001c0009t0011g0149	1	230	0.0044	19	c.112 others(38): Show c.1120+1026_1120+1027insTTTTTTTTTTTTTTTTTTT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	7/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35867909	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	230	0.0044	19	c.940 others(36): Show c.940+3314_940+3315insCTTTCTTTCTTTCTTTCTT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	5/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35867949	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02922.hp1 HG01106.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0019 a0001c0005t0051 a0001c0002t0019 a0001c0005t0051	a0001c0002t0019g0083 a0001c0005t0051g0212 a0001c0002t0019g0083 a0001c0005t0051g0212	2	230	0.0087	19	c.940 others(36): Show c.940+3274_940+3275insTTTCTTTCTTTCTTTCTTT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	5/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35918892	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0183 a0001c0001t0018g0183	1	230	0.0044	19	c.823 others(38): Show c.823+28465_823+28466insAAAAAAAAAAAAAAAAAAA	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	4/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35936962	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03491.hp1 NA19240.hp2 HG02970.hp2 HG03491.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0003 a0001c0002t0006 a0001c0007t0003 a0001c0001t0003 a0001c0002t0006 a0001c0007t0003	a0001c0001t0003g0171 a0001c0002t0006g0120 a0001c0007t0003g0061 a0001c0001t0003g0171 a0001c0002t0006g0120 a0001c0007t0003g0061	3	230	0.0130	19	c.823 others(38): Show c.823+10377_823+10395dupAAAAAAAAAAAAAAAAAAA	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	4/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150175011	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	116	0.0086	19	c.757 others(38): Show c.757-18126_757-18125insAAAAAAAAATATATATATA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150175011	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	116	0.0086	19	c.757 others(38): Show c.757-18126_757-18125insAAAAAAATATATATATATA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150190034	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	116	0.0086	19	c.757 others(36): Show c.757-3087_757-3086insAAAAAAAAAAAAAAAAAAA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150250868	A A	AACATCCC others(12): Show AACATCCCCCACACCCCCAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	116	0.0086	19	c.207 others(38): Show c.2073+1197_2073+1198insCCCCACACATCCCCCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251031	T T	TCCCCCAC others(12): Show TCCCCCACACCCCACACACC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0071 a0002c0002t0004g0071	1	116	0.0086	19	c.207 others(38): Show c.2073+1350_2073+1351insCCACACCCCACACACCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLRE1B_chr1_113900326_113919086	113907204	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	446	0.0022	19	c.355 others(32): Show c.355+55_355+73dupTTTTTTTTTTTTTTTTTTT	DCLRE1B	ENSG00000118655.8	transcript	ENST00000650450.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCN_chr12_91135484_91187817	91152314	T T	TATAAGAC others(12): Show TATAAGACATATATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02559.hp1 HG02615.hp1 others(6): Show HG01433.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02896.hp1 HG03209.hp2 NA19030.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0005 a0002c0006t0005 a0002c0002t0005 a0002c0006t0005	a0002c0002t0005g0193 a0002c0002t0005g0194 a0002c0002t0005g0195 others(6): Show a0002c0002t0005g0193 a0002c0002t0005g0194 a0002c0002t0005g0195 a0002c0002t0005g0196 a0002c0002t0005g0197 a0002c0002t0005g0198 a0002c0002t0005g0199 a0002c0002t0005g0200 a0002c0006t0005g0192	9	236	0.0381	19	c.747 others(34): Show c.747-523_747-522insGTATATATATATGTCTTAT	DCN	ENSG00000011465.18	transcript	ENST00000052754.10	protein_coding	6/7			chr12	TogoVar
DCP1A_chr3_53278429_53352543	53281086	C C	CATCTATC others(12): Show CATCTATCTATCATCTATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0077 a0001c0001t0010g0077	1	366	0.0027	19	c.64 others(30): Show c.6493_*6494insAGATAGATGATAGATAGAT	DCP1A	ENSG00000272886.6	transcript	ENST00000610213.6	protein_coding		2342		chr3	TogoVar
DCP2_chr5_112971798_113027195	112984703	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	364	0.0028	19	c.54- others(34): Show c.54-1131_54-1130insATATATATATATATATATA	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
DCPS_chr11_126299060_126355005	126330719	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03669.hp1 HG02451.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0274 a0001c0001t0003g0054 a0001c0001t0002g0274 a0001c0001t0003g0054	2	342	0.0059	19	c.377 others(34): Show c.377-685_377-684insATATATATATATATATATT	DCPS	ENSG00000110063.10	transcript	ENST00000263579.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
DCPS_chr11_126299060_126355005	126330720	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02886.hp1 HG02602.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0029 a0001c0001t0003 a0001c0002t0029	a0001c0001t0003g0206 a0001c0002t0029g0272 a0001c0001t0003g0206 a0001c0002t0029g0272	2	342	0.0059	19	c.377 others(34): Show c.377-685_377-684insATATATATATATATATATA	DCPS	ENSG00000110063.10	transcript	ENST00000263579.5	protein_coding	2/5			chr11	TogoVar
DCTN4_chr5_150703440_150764017	150729042	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0049 a0002c0002t0005g0049	1	286	0.0035	19	c.834 others(36): Show c.834+1570_834+1588dupAAAAAAAAAAAAAAAAAAA	DCTN4	ENSG00000132912.13	transcript	ENST00000447998.7	protein_coding	8/12			chr5	TogoVar
DCTN4_chr5_150703440_150764017	150737532	G G	GAAATCAG others(12): Show GAAATCAGGATGGAAATTTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG02559.hp2 others(1): Show HG00735.hp2 HG01496.hp1 HG02559.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0005 a0002c0002t0003g0023 a0002c0002t0003g0024	4	286	0.0140	19	c.430 others(36): Show c.430-4076_430-4058dupTAAATTTCCATCCTGATTT	DCTN4	ENSG00000132912.13	transcript	ENST00000447998.7	protein_coding	4/12			chr5	TogoVar

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