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
CYP4F22_chr19_15503525_15557317	15547018	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp1 NA19010.hp1 HG01109.hp1 HG03130.hp1 NA19010.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0016 a0001c0001 a0002c0003 a0006c0016	a0001c0001t0002 a0002c0003t0005 a0006c0016t0005 a0001c0001t0002 a0002c0003t0005 a0006c0016t0005	a0001c0001t0002g0101 a0002c0003t0005g0328 a0006c0016t0005g0129 a0001c0001t0002g0101 a0002c0003t0005g0328 a0006c0016t0005g0129	3	384	0.0078	19	c.113 others(38): Show c.1137-1086_1137-1068dupTTTTTTTTTTTTTTTTTTT	CYP4F22	ENSG00000171954.13	transcript	ENST00000269703.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650676	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0047 a0001c0004t0005g0047	1	424	0.0024	19	c.918 others(34): Show c.918+494_918+512dupTTTCTTTCTTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650680	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG03669.hp1 others(2): Show HG00735.hp2 HG01243.hp1 HG03669.hp1 HG03834.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0007 a0001c0004t0011 others(1): Show a0001c0004t0005 a0001c0004t0007 a0001c0004t0011 a0001c0004t0081	a0001c0004t0005g0078 a0001c0004t0005g0079 a0001c0004t0007g0080 others(2): Show a0001c0004t0005g0078 a0001c0004t0005g0079 a0001c0004t0007g0080 a0001c0004t0011g0064 a0001c0004t0081g0044	5	424	0.0118	19	c.918 others(34): Show c.918+498_918+516dupTTTCTTTCTTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650688	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0053 a0001c0004t0007g0053	1	424	0.0024	19	c.918 others(34): Show c.918+506_918+524dupTTTCTTTCTTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650776	G G	GTTCTTTC others(12): Show GTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02818.hp1 HG02886.hp2 others(1): Show HG01192.hp2 HG02818.hp1 HG02886.hp2 NA18945.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0012 a0001c0005t0004g0014 a0001c0005t0004g0025 others(1): Show a0001c0005t0004g0012 a0001c0005t0004g0014 a0001c0005t0004g0025 a0001c0005t0004g0027	4	424	0.0094	19	c.918 others(34): Show c.918+596_918+614dupCTTTCTTTCTTTCTTTCTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650779	C C	CGTTCTTT others(12): Show CGTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02970.hp1 HG01361.hp2 HG02970.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0021 a0001c0010t0021	a0001c0010t0021g0149 a0001c0010t0021g0150 a0001c0010t0021g0149 a0001c0010t0021g0150	2	424	0.0047	19	c.918 others(34): Show c.918+596_918+597insGTTCTTTCTTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650780	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG02717.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0078 a0001c0001t0009 a0001c0001t0078	a0001c0001t0009g0155 a0001c0001t0078g0165 a0001c0001t0009g0155 a0001c0001t0078g0165	2	424	0.0047	19	c.918 others(34): Show c.918+599_918+617dupTCTTTCTTTCTTTCTTTCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650784	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0122 a0002c0003t0003g0122	1	424	0.0024	19	c.918 others(34): Show c.918+617_918+618insTTCTTCTTTCTTTCTTTCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650868	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0240 a0001c0001t0058g0240	1	424	0.0024	19	c.918 others(34): Show c.918+685_918+686insCTCTCTCTCTCTCTCTCTC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15659025	T T	TCTAGGCT others(12): Show TCTAGGCTGGGGGGTTGGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02622.hp2 others(2): Show HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02895.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0030 a0001c0002t0069 a0001c0002t0017 a0001c0002t0030 a0001c0002t0069	a0001c0002t0017g0334 a0001c0002t0017g0335 a0001c0002t0030g0333 others(2): Show a0001c0002t0017g0334 a0001c0002t0017g0335 a0001c0002t0030g0333 a0001c0002t0030g0357 a0001c0002t0069g0336	5	424	0.0118	19	c.139 others(36): Show c.1398-192_1398-174dupAGGCTGGGGGGTTGGAGCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15662270	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG02055.hp2 HG04228.hp1 others(2): Show HG01081.hp1 HG02055.hp2 HG04228.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0046 a0001c0001t0015 a0001c0001t0046	a0001c0001t0015g0172 a0001c0001t0015g0176 a0001c0001t0015g0182 others(2): Show a0001c0001t0015g0172 a0001c0001t0015g0176 a0001c0001t0015g0182 a0001c0001t0015g0183 a0001c0001t0046g0180	5	424	0.0118	19	c.28 others(30): Show c.2885_*2886insAAAAAAAAAAAAAAAAAAA	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	13/13	2886		chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15667541	A A	ATATCTAT others(12): Show ATATCTATATCTATATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03130.hp1 HG03225.hp1 others(3): Show HG02818.hp1 HG03130.hp1 HG03225.hp1 NA18906.hp1 NA18952.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0014 a0001c0001t0018 others(3): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0002t0045 a0001c0005t0004	a0001c0001t0002g0226 a0001c0001t0014g0392 a0001c0001t0018g0317 others(3): Show a0001c0001t0002g0226 a0001c0001t0014g0392 a0001c0001t0018g0317 a0001c0001t0020g0164 a0001c0002t0045g0377 a0001c0005t0004g0014	6	424	0.0142	19	c.81 others(30): Show c.8156_*8157insTATCTATATCTATATCTAT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding		4717		chr19	TogoVar
CYP7B1_chr8_64585851_64803737	64771047	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG03139.hp1 others(2): Show HG02145.hp2 HG02559.hp1 HG03139.hp1 HG06807.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009	a0002c0002t0006g0009 a0002c0002t0006g0010 a0002c0002t0007g0008 others(2): Show a0002c0002t0006g0009 a0002c0002t0006g0010 a0002c0002t0007g0008 a0002c0002t0009g0006 a0002c0002t0009g0017	5	258	0.0194	19	c.122 others(38): Show c.122+27400_122+27418dupAAAAAAAAAAAAAAAAAAA	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYSLTR1_chrX_78266468_78332611	78327694	G G	GTCAAAGA others(12): Show GTCAAAGAGGAAGGAAGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	240	0.0042	19	c.-50 others(28): Show c.-505_-504insATTCTTCCTTCCTCTTTGA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		84		chrX	TogoVar
CYSLTR2_chr13_48648929_48716226	48695068	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA20129.hp1 NA19043.hp2 NA20129.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0008 a0004c0005 a0005c0008	a0004c0005t0007 a0005c0008t0007 a0004c0005t0007 a0005c0008t0007	a0004c0005t0007g0097 a0005c0008t0007g0098 a0004c0005t0007g0097 a0005c0008t0007g0098	2	318	0.0063	19	c.-10 others(38): Show c.-102-1450_-102-1432dupTTTTTTTTTTTTTTTTTTT	CYSLTR2	ENSG00000152207.8	transcript	ENST00000682523.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYSTM1_chr5_140170188_140248789	140184342	T T	TTGATGAA others(12): Show TTGATGAACATTATATTTAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	324	0.0031	19	c.-21 others(36): Show c.-21+9059_-21+9077dupGATGAACATTATATTTAAT	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYTH1_chr17_78669048_78787273	78690393	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	378	0.0027	19	c.891 others(36): Show c.891+2005_891+2023dupTTTTTTTTTTTTTTTTTTT	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	11/13			chr17	TogoVar
CYTH1_chr17_78669048_78787273	78718218	T T	TCACACAC others(12): Show TCACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	378	0.0027	19	c.23- others(34): Show c.23-8487_23-8486insGTGTGTGTGTGTGTGTGTG	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
CYTH3_chr7_6156779_6277624	6259757	T T	TTATATAT others(12): Show TTATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02145.hp2 HG06807.hp1 HG00733.hp1 HG02145.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0085 a0001c0001t0003g0019 a0001c0001t0005g0128 a0001c0001t0001g0085 a0001c0001t0003g0019 a0001c0001t0005g0128	3	348	0.0086	19	c.34+ others(36): Show c.34+12716_34+12717insTTATATATATATATATATA	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259758	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	348	0.0029	19	c.34+ others(36): Show c.34+12715_34+12716insTATATATATATATATATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TAATATAT others(12): Show TAATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19085.hp1 HG02135.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0113 a0001c0001t0004g0093 a0001c0001t0003g0113 a0001c0001t0004g0093	2	348	0.0058	19	c.34+ others(36): Show c.34+12701_34+12702insTTATATATATATATATATT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TATAATAT others(12): Show TATAATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02523.hp2 NA18965.hp1 others(1): Show HG00639.hp2 HG02523.hp2 NA18965.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0092 a0001c0001t0003g0123 a0001c0001t0003g0135 others(1): Show a0001c0001t0001g0092 a0001c0001t0003g0123 a0001c0001t0003g0135 a0001c0001t0004g0101	4	348	0.0115	19	c.34+ others(36): Show c.34+12701_34+12702insTTATATATATATATATTAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259784	A A	ATATATAA others(12): Show ATATATAATATATATATAAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0096 a0001c0001t0009g0096	1	348	0.0029	19	c.34+ others(36): Show c.34+12689_34+12690insATTATATATATATTATATA	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYYR1_chr21_26461216_26578286	26572969	A A	AAGGGAGA others(12): Show AAGGGAGAGCCCGGAACCGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0003 a0001c0001t0015g0003	1	316	0.0032	19	c.-48 others(26): Show c.-48_-30dupCCGGTTCCGGGCTCTCCCT	CYYR1	ENSG00000166265.13	transcript	ENST00000652641.2	protein_coding	1/4	30		chr21	TogoVar
DAAM1_chr14_59183667_59376403	59282461	G G	GTAAGCCA others(12): Show GTAAGCCATAAAGCCACATC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0057 a0002c0005t0057	a0002c0005t0057g0192 a0002c0005t0057g0192	1	298	0.0034	19	c.184 others(36): Show c.184-8741_184-8740insCATCTAAGCCATAAAGCCA	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM1_chr14_59183667_59376403	59327402	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp1 HG01243.hp1 others(7): Show HG00140.hp1 HG01175.hp1 HG01243.hp1 HG01258.hp2 HG01433.hp1 HG02258.hp1 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(4): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0015 a0001c0003t0030 a0001c0004t0014 a0001c0004t0043	a0001c0003t0001g0025 a0001c0003t0003g0014 a0001c0003t0003g0291 others(7): Show a0001c0003t0001g0025 a0001c0003t0003g0014 a0001c0003t0003g0291 a0001c0003t0005g0032 a0001c0003t0005g0034 a0001c0003t0015g0210 a0001c0003t0030g0019 a0001c0004t0014g0042 a0001c0004t0014g0046 a0001c0004t0043g0048	10	298	0.0336	19	c.137 others(36): Show c.1372+417_1372+435dupTTTTTTTTTTTTTTTTTTT	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM2_chr6_39787376_39909869	39789919	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02976.hp2 NA18522.hp2 HG01891.hp2 HG02976.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0005 a0001c0001t0001 a0001c0008t0005	a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0008t0005g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0008t0005g0279	3	300	0.0100	19	c.-26 others(30): Show c.-2603_-2602insAAAAAAAAAAAAAAAAAAA	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding		2456		chr6	TogoVar
DAB1_chr1_56989778_57429060	57207446	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA19240.hp1 HG00642.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0005g0106 a0001c0001t0002g0001 a0001c0001t0005g0106	2	138	0.0145	19	c.68- others(36): Show c.68-62018_68-62017insAAAAAAAAAAAAAAAAAAA	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	2/14			chr1	TogoVar
DAB1_chr1_56989778_57429060	57367109	A A	AAAATAAA others(12): Show AAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG03098.hp2 HG02647.hp1 HG02809.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0095 a0001c0001t0007g0028 a0001c0001t0008g0089 a0001c0001t0001g0095 a0001c0001t0007g0028 a0001c0001t0008g0089	3	138	0.0217	19	c.-13 others(40): Show c.-137+56820_-137+56821insATTTTATTTTATTTTATTT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14			chr1	TogoVar
DAB2IP_chr9_121646634_121790530	121700258	C C	CGGGAGAC others(12): Show CGGGAGACGCTGGCCAGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA20300.hp1 HG00323.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0011 a0007c0016 a0001c0011 a0007c0016	a0001c0011t0016 a0007c0016t0001 a0001c0011t0016 a0007c0016t0001	a0001c0011t0016g0009 a0007c0016t0001g0142 a0001c0011t0016g0009 a0007c0016t0001g0142	2	224	0.0089	19	c.362 others(34): Show c.362+802_362+820dupGGAGACGCTGGCCAGGGAG	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAB2IP_chr9_121646634_121790530	121754384	C C	CCAGGAAG others(12): Show CCAGGAAGGAGTAGCCTGGG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	224	0.0045	19	c.363 others(36): Show c.363-2628_363-2610dupCAGGAAGGAGTAGCCTGGG	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
DACH1_chr13_71432966_71872204	71775127	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	102	0.0098	19	c.848 others(38): Show c.848+90776_848+90794dupAAAAAAAAAAAAAAAAAAA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86147115	A A	AAAAGTAT others(12): Show AAAAGTATGTATATGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	166	0.0060	19	c.-15 others(30): Show c.-1506_-1505insAAAGTATGTATATGTGTGT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding		1335		chrX	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCCTTC others(12): Show CTTCCTTCTTCTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	166	0.0060	19	c.640 others(38): Show c.640+32013_640+32014insTTCCTTCTTCTTCCTTCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11			chrX	TogoVar
DACH2_chrX_86143451_86837602	86698521	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02080.hp1 HG00423.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0152 a0001c0001t0001g0091 a0001c0001t0001g0152	2	166	0.0121	19	c.931 others(36): Show c.931+3351_931+3369dupTTTTTTTTTTTTTTTTTTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86707912	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02896.hp2 HG03492.hp1 others(7): Show HG02602.hp1 HG02896.hp2 HG03492.hp1 HG03579.hp1 HG03710.hp1 NA18944.hp1 NA18984.hp1 NA19058.hp1 NA19066.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 others(7): Show a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0095 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0163	10	166	0.0602	19	c.932 others(36): Show c.932-6618_932-6617insAAAAAAAAAAAAAAAAAAA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT2_chr6_168301904_168324777	168320161	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0234 a0003c0004t0008g0234	1	476	0.0021	19	c.-52 others(28): Show c.-529_-528insAAAAAAAAAAAAAAAAAAA	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		385		chr6	TogoVar
DAD1_chr14_22559907_22594224	22589761	T T	TCCCCCCT others(12): Show TCCCCCCTCCTCGGCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	386	0.0026	19	c.-60 others(28): Show c.-605_-604insCGGGGGCCGAGGAGGGGGG	DAD1	ENSG00000129562.11	transcript	ENST00000250498.9	protein_coding		538		chr14	TogoVar
DAG1_chr3_49465267_49540615	49528275	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02602.hp1 HG02698.hp2 others(1): Show HG01069.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0115 a0001c0002t0002g0118 a0001c0002t0002g0122 others(1): Show a0001c0002t0002g0115 a0001c0002t0002g0118 a0001c0002t0002g0122 a0001c0002t0010g0121	4	238	0.0168	19	c.286 others(36): Show c.286-2513_286-2495dupTTTTTTTTTTTTTTTTTTT	DAG1	ENSG00000173402.13	transcript	ENST00000308775.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DAGLB_chr7_6404129_6452954	6421312	C C	CAAGCGCG others(12): Show CAAGCGCGGGAGGCGCAGGC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	380	0.0026	19	c.121 others(36): Show c.1218+414_1218+415insGCCTGCGCCTCCCGCGCTT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAND5_chr19_12964576_12979760	12966697	G G	GCAGGAGG others(12): Show GCAGGAGGATCACTTGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	398	0.0025	19	c.-29 others(30): Show c.-2964_-2963insCAGGAGGATCACTTGAAGC	DAND5	ENSG00000179284.6	transcript	ENST00000317060.4	protein_coding		2878		chr19	TogoVar
DAO_chr12_108875092_108906043	108896419	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0307 a0001c0001t0001g0291 a0001c0001t0001g0307	2	388	0.0052	19	c.613 others(34): Show c.613-582_613-564dupAAAAAAAAAAAAAAAAAAA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
DAPK1_chr9_87492867_87713634	87662560	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01358.hp1 NA18955.hp1 others(2): Show HG00099.hp1 HG01358.hp1 NA18955.hp1 NA18960.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0037 a0002c0003 a0001c0001 a0001c0037 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0037t0001 a0002c0003t0001	a0001c0001t0001g0056 a0001c0001t0005g0183 a0001c0001t0008g0091 others(2): Show a0001c0001t0001g0056 a0001c0001t0005g0183 a0001c0001t0008g0091 a0001c0037t0001g0014 a0002c0003t0001g0094	5	236	0.0212	19	c.192 others(38): Show c.1923+4440_1923+4458dupTTTTTTTTTTTTTTTTTTT	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK3_chr19_3953453_3976099	3953637	A A	AGGGGGGC others(12): Show AGGGGGGCGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02004.hp1 HG02004.hp2 others(6): Show HG01257.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02155.hp1 HG02155.hp2 HG02738.hp1 HG03654.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0078 a0001c0001t0001g0080	9	364	0.0247	19	c.54 others(30): Show c.5463_*5464insCCCCCCCCCCCCGCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4815		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953644	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	364	0.0028	19	c.54 others(30): Show c.5456_*5457insCGCCCCCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4808		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953645	G G	GGGCGGGG others(12): Show GGGCGGGGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0135 a0001c0002t0011g0135	1	364	0.0028	19	c.54 others(30): Show c.5455_*5456insGCCCCCCCCCCCCCCCGCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4807		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953645	G G	GGGGGGGG others(12): Show GGGGGGGGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02895.hp1 HG03710.hp1 HG02129.hp2 HG02895.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0005g0139 a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0005g0139	3	364	0.0082	19	c.54 others(30): Show c.5455_*5456insGCCCCCCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4807		chr19	TogoVar
DAPL1_chr2_158790317_158820990	158809357	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01358.hp1 HG04199.hp1 HG00735.hp1 HG01358.hp1 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0025 a0003c0004t0002g0077 a0003c0004t0002g0025 a0003c0004t0002g0077	3	360	0.0083	19	c.207 others(36): Show c.207+2253_207+2254insAAAAAAAAAAAAAAAAAAA	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAPP1_chr4_99811827_99875190	99827532	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02559.hp1 HG00741.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0115 a0001c0001t0005g0114 a0001c0001t0002g0115 a0001c0001t0005g0114	2	366	0.0055	19	c.102 others(36): Show c.102-8081_102-8080insAAAAAAAAAAAAAAAAAAA	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
DAP_chr5_10674230_10766234	10761385	C C	CCGAGGGC others(12): Show CCGAGGGCGGGGGGCGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	372	0.0027	19	c.-31 others(28): Show c.-318_-317insCCCCCGCCCCCCGCCCTCG	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding		152		chr5	TogoVar

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