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
CSF2RA_chrX_1263814_1314935	1314224	CCACTGCA others(88): Show CCACTGCACCTGCCCAACCCCACTGCACCTGCCCAACCCCACTGCGCCTG CCCAACCCCACTGCATCTGCCCAACCACTCTGTGCCTGCCCAACCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 NA19030.hp2 HG02717.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0005 a0001c0001t0005 a0002c0003t0005	a0001c0001t0005g0155 a0002c0003t0005g0146 a0001c0001t0005g0155 a0002c0003t0005g0146	2	159	0.0126	-95	c.47 others(106): Show c.4746_*4840delCACTGCACCTGCCCAACCCCACTGCACCTGCCCA ACCCCACTGCGCCTGCCCAACCCCACTGCATCTGCCCAACCACTCTGTGC CTGCCCAACCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4290		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314250	ACCTGCCC others(88): Show ACCTGCCCAACCCCACTGCGCCTGCCCAACCCCACTGCATCTGCCCAACC ACTCTGTGCCTGCCCAACCACACTGCACCTGCCCAACCCCACTGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01978.hp2 HG02165.hp2 others(17): Show HG01175.hp2 HG01978.hp2 HG02165.hp2 HG02273.hp2 HG02897.hp1 HG03490.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18966.hp2 NA18969.hp1 NA18975.hp2 NA18980.hp1 NA19063.hp1 NA19064.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0022 a0001c0001 a0001c0002 a0006c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0006c0022t0004	a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0048 others(17): Show a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0092 a0001c0001t0001g0121 a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0001t0002g0078 a0001c0001t0003g0046 a0001c0001t0003g0090 a0001c0001t0004g0094 a0001c0001t0013g0004 a0001c0002t0002g0018 a0001c0002t0004g0037 a0001c0002t0004g0042 a0001c0002t0004g0050 a0001c0002t0005g0135 a0006c0022t0004g0073	20	159	0.1258	-95	c.47 others(106): Show c.4772_*4866delCCTGCCCAACCCCACTGCGCCTGCCCAACCCCAC TGCATCTGCCCAACCACTCTGTGCCTGCCCAACCACACTGCACCTGCCCA ACCCCACTGCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4316		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314509	GCACTGCA others(88): Show GCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTG CCCAATCCCACTGCACCTGCCCAACCCCACTGCACCTGCCCAACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	159	0.0063	-95	c.50 others(106): Show c.5031_*5125delCACTGCACCTGCCCAATCCCACTGCACCTGCCCA ATCCCACTGCACCTGCCCAATCCCACTGCACCTGCCCAACCCCACTGCAC CTGCCCAACCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4575		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314587	ACTGCACC others(88): Show ACTGCACCTGCCCAACCCCACTGCACCTGCCCAACCACACTGAACCTGCT CAACCCCACTTCACCTGCCCAACTGCACTGCACTTGCCCAACCCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	159	0.0063	-95	c.51 others(106): Show c.5109_*5203delCTGCACCTGCCCAACCCCACTGCACCTGCCCAAC CACACTGAACCTGCTCAACCCCACTTCACCTGCCCAACTGCACTGCACTT GCCCAACCCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4653		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314592	ACCTGCCC others(88): Show ACCTGCCCAACCCCACTGCACCTGCCCAACCACACTGAACCTGCTCAACC CCACTTCACCTGCCCAACTGCACTGCACTTGCCCAACCCCTCTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG01891.hp1 HG02886.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0016 a0002c0003 a0008c0016	a0002c0003t0005 a0008c0016t0009 a0002c0003t0005 a0008c0016t0009	a0002c0003t0005g0137 a0008c0016t0009g0015 a0002c0003t0005g0137 a0008c0016t0009g0015	2	159	0.0126	-95	c.51 others(106): Show c.5114_*5208delCCTGCCCAACCCCACTGCACCTGCCCAACCACAC TGAACCTGCTCAACCCCACTTCACCTGCCCAACTGCACTGCACTTGCCCA ACCCCTCTGTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4658		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314818	GTGCCTGC others(88): Show GTGCCTGCCCAACCGCACTGCACCTGCCCAATCCCACTGCACCTGCCCAA CCGCACTGCACCTGCCCAACCACACTGAACCTGCTCAACCCCACTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	159	0.0063	-95	c.53 others(106): Show c.5340_*5434delTGCCTGCCCAACCGCACTGCACCTGCCCAATCCC ACTGCACCTGCCCAACCGCACTGCACCTGCCCAACCACACTGAACCTGCT CAACCCCACTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4884		chrX	TogoVar
CSMD1_chr8_2930361_4999914	3182580	GTGTGTGT others(88): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATTGTTAGTAGAGAAGGGGGACTCTGGCTGTCTATAAGAAGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01071.hp1 others(13): Show HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01255.hp2 HG01934.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG03225.hp1 HG03710.hp1 NA18971.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp2	a0001 a0002 a0019 others(3): Show a0001 a0002 a0019 a0021 a0029 a0039	a0001c0003 a0001c0005 a0001c0006 others(12): Show a0001c0003 a0001c0005 a0001c0006 a0001c0017 a0001c0049 a0001c0073 a0001c0080 a0002c0041 a0002c0051 a0002c0070 a0002c0077 a0019c0018 a0021c0016 a0029c0028 a0039c0009	a0001c0003t0008 a0001c0003t0019 a0001c0005t0002 others(13): Show a0001c0003t0008 a0001c0003t0019 a0001c0005t0002 a0001c0006t0060 a0001c0017t0005 a0001c0049t0002 a0001c0073t0007 a0001c0080t0040 a0002c0041t0027 a0002c0051t0006 a0002c0070t0046 a0002c0077t0001 a0019c0018t0058 a0021c0016t0048 a0029c0028t0024 a0039c0009t0001	a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0005t0002g0111 others(13): Show a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0005t0002g0111 a0001c0006t0060g0103 a0001c0017t0005g0003 a0001c0049t0002g0071 a0001c0073t0007g0108 a0001c0080t0040g0025 a0002c0041t0027g0018 a0002c0051t0006g0081 a0002c0070t0046g0092 a0002c0077t0001g0016 a0019c0018t0058g0068 a0021c0016t0048g0106 a0029c0028t0024g0040 a0039c0009t0001g0002	16	126	0.1270	-95	c.562 others(114): Show c.5621-1461_5621-1367delGCTTCTTATAGACAGCCAGAGTCCCC CTTCTCTACTAACAATACACACACACACACACACACACACACACACACAC ACACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	34102573	GATCCAGC others(88): Show GATCCAGCCATATCCCTGTAATCCGGCCATATCCCTGTGATCCAACCATA TCCCTGTAATCCGGCCATATCCCTGTAATCCAACCATATCCCTGTA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01109.hp1 others(8): Show HG01069.hp2 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01978.hp1 HG02080.hp1 HG02886.hp1 HG02965.hp1 HG03209.hp1 HG03453.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0015 a0018 a0022	a0001c0001 a0001c0046 a0002c0002 others(7): Show a0001c0001 a0001c0046 a0002c0002 a0002c0006 a0003c0004 a0003c0035 a0004c0049 a0015c0053 a0018c0029 a0022c0019	a0001c0001t0005 a0001c0046t0002 a0002c0002t0001 others(7): Show a0001c0001t0005 a0001c0046t0002 a0002c0002t0001 a0002c0006t0004 a0003c0004t0003 a0003c0035t0006 a0004c0049t0009 a0015c0053t0002 a0018c0029t0007 a0022c0019t0011	a0001c0001t0005g0055 a0001c0046t0002g0050 a0002c0002t0001g0013 others(8): Show a0001c0001t0005g0055 a0001c0046t0002g0050 a0002c0002t0001g0013 a0002c0006t0004g0052 a0003c0004t0003g0053 a0003c0004t0003g0054 a0003c0035t0006g0006 a0004c0049t0009g0012 a0015c0053t0002g0024 a0018c0029t0007g0025 a0022c0019t0011g0017	11	66	0.1667	-95	c.188 others(114): Show c.188-13475_188-13381delTACAGGGATATGGTTGGATTACAGGG ATATGGCCGGATTACAGGGATATGGTTGGATCACAGGGATATGGCCGGAT TACAGGGATATGGCTGGAT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34102578	AGCCATAT others(88): Show AGCCATATCCCTGTAATCCGGCCATATCCCTGTGATCCAACCATATCCCT GTAATCCGGCCATATCCCTGTAATCCAACCATATCCCTGTAATCCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp1 homoSapiens_chm13v2.hp1 HG01243.hp1 HG02717.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0006 a0004c0051 a0001c0001 a0002c0006 a0004c0051	a0001c0001t0003 a0002c0006t0001 a0004c0051t0001 a0001c0001t0003 a0002c0006t0001 a0004c0051t0001	a0001c0001t0003g0063 a0002c0006t0001g0008 a0004c0051t0001g0019 a0001c0001t0003g0063 a0002c0006t0001g0008 a0004c0051t0001g0019	3	66	0.0455	-95	c.188 others(114): Show c.188-13480_188-13386delCGGATTACAGGGATATGGTTGGATTA CAGGGATATGGCCGGATTACAGGGATATGGTTGGATCACAGGGATATGGC CGGATTACAGGGATATGGC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70			chr1	TogoVar
CST9L_chr20_23559732_23573484	23560997	TTCCTTCC others(88): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT CTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 NA18939.hp2 NA18952.hp1 others(4): Show HG04204.hp1 NA18939.hp2 NA18952.hp1 NA18967.hp1 NA19007.hp2 NA19063.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0048 a0002c0002t0001g0001 a0002c0002t0001g0048	7	392	0.0179	-95	c.38 others(106): Show c.3856_*3950delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAA GGAAGGAAGGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3734		chr20	TogoVar
CST9L_chr20_23559732_23573484	23560999	CCTTCCTT others(88): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02698.hp1 HG02886.hp2 others(7): Show HG01358.hp1 HG02698.hp1 HG02886.hp2 HG03017.hp1 NA18944.hp1 NA18951.hp1 NA18951.hp2 NA19000.hp2 NA19064.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0001 a0002c0002t0001g0027 a0002c0002t0001g0030	10	392	0.0255	-95	c.38 others(106): Show c.3854_*3948delAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAA GGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGG AAGGAAGGAAG	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3732		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561003	CCTTCCTT others(88): Show CCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG02004.hp1 others(3): Show HG00639.hp1 HG00733.hp2 HG02004.hp1 HG02602.hp1 NA18966.hp2 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	6	392	0.0153	-95	c.38 others(106): Show c.3850_*3944delAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAA AGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGG AAGGAAGGAAG	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3728		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561007	CCTTCCTT others(88): Show CCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 NA19005.hp2 NA19009.hp2 others(1): Show HG01099.hp2 NA19005.hp2 NA19009.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0001 a0002c0002t0004g0050 a0002c0002t0001g0001 a0002c0002t0004g0050	4	392	0.0102	-95	c.38 others(106): Show c.3846_*3940delAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAA GGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAGGAAGGAAG	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3724		chr20	TogoVar
DACH1_chr13_71432966_71872204	71734129	ATATACCC others(88): Show ATATACCCCATATATATGTATATCCCATATACGTATACCCCATATATATG TATATCCCATATACGTATACCCATATATATGTATATCCCATATACG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	102	0.0098	-95	c.849 others(114): Show c.849-52314_849-52220delCGTATATGGGATATACATATATATGG GTATACGTATATGGGATATACATATATATGGGGTATACGTATATGGGATA TACATATATATGGGGTATA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DCAKD_chr17_45018344_45056632	45051729	GGGCGGGG others(88): Show GGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGG TTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	408	0.0025	-95	c.-57 others(104): Show c.-578_-484delGCCCGCCCGCCCAACCTCTCCCGGCCCCGCCCGCCC GCCCGCCCAACCTCTCCCGGCCCCGCCCGCCCGCCCGCCCAACCTCTCCC GGCCCCGCC	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		98		chr17	TogoVar
DDX51_chr12_132131594_132149319	132149224	CACACCAC others(88): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-95	c.-50 others(106): Show c.-5023_-4929delGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGG GATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAG GGGTGTGGTGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4906		chr12	TogoVar
DEFA3_chr8_7010869_7023297	7022659	CCACAGGG others(88): Show CCACAGGGGATTCCGAATGGTGGCAGAAGTTAGGGTGTGGCCATGCGGTG GAGGGTTGGAACAAAGAAGATGAAGGGTCACTGTTGTCCCGGAGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0070 a0001c0008t0007g0070	1	430	0.0023	-95	c.-45 others(106): Show c.-4545_-4451delTCCTCCGGGACAACAGTGACCCTTCATCTTCTTT GTTCCAACCCTCCACCGCATGGCCACACCCTAACTTCTGCCACCATTCGG AATCCCCTGTG	DEFA3	ENSG00000239839.7	transcript	ENST00000327857.7	protein_coding		4363		chr8	TogoVar
DHRS12_chr13_51762993_51809163	51775775	TGTATTCT others(88): Show TGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC AGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	420	0.0024	-95	c.363 others(112): Show c.363+1190_363+1284delTGTAGGAGAATACTGTAGGAGAATACTG TAGGAGAATACATGTACTGTAGGAGAATACATGTAGGAGAATACTGTAGG AGAATACTGTAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2C_chr10_269201_694668	322979	TTAGAACA others(88): Show TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0003 a0001c0009t0003g0003	1	88	0.0114	-95	c.392 others(114): Show c.3924+3932_3924+4026delGCGCCGGTCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAACACTGGTCTCTCGCCGGAGCCCCGCA CCCCCGACTGACTGTTCTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	623583	GGGGAGGA others(88): Show GGGGAGGAGGGGAGGGACGCAGGGCCGAGGGCTGAGGGGAGGAGGGGAAG GAAGGACGCAGGGGCGAGGGGAAGAGGGGAGGGATGCAAGGCTGAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01081.hp2 HG01515.hp1 others(15): Show HG00673.hp2 HG01081.hp2 HG01515.hp1 HG01934.hp1 HG02040.hp1 HG02071.hp1 HG02132.hp2 HG02155.hp2 HG02280.hp1 HG02300.hp1 HG02602.hp1 HG02809.hp1 HG02922.hp1 HG03225.hp1 HG03579.hp2 NA18906.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0020 a0001c0021 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0005t0001 a0001c0005t0002 a0001c0007t0002 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(15): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0079 a0001c0001t0002g0025 a0001c0001t0003g0075 a0001c0002t0001g0031 a0001c0002t0001g0080 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0082 a0001c0005t0001g0009 a0001c0005t0002g0010 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002	18	88	0.2046	-95	c.85+ others(112): Show c.85+65816_85+65910delTTCAGCCTTGCATCCCTCCCCTCTTCCC CTCGCCCCTGCGTCCTTCCTTCCCCTCCTCCCCTCAGCCCTCGGCCCTGC GTCCCTCCCCTCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1016850	GTGTGTGA others(88): Show GTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	-95	c.73+ others(114): Show c.73+108891_73+108985delACCAGGACAGACGATGCCTCCACTGT GTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAG ACGATGCCTCCACTGTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP4_chr20_36301339_36533633	36392491	CCTCCTGA others(88): Show CCTCCTGAGTAGCTGGGATTACAGCATGCACCACCACGCCCGGCTAATTT TTGTATTTTTAGAGAGATGGGGTTTCACCATGTTGGTCAGGCTGCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00609.hp1 others(30): Show HG00280.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG01074.hp1 HG01106.hp2 HG01346.hp2 HG01952.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02257.hp2 HG02273.hp2 HG02647.hp2 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG03471.hp2 HG03491.hp1 HG03704.hp2 HG03831.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp2 NA18942.hp1 NA18962.hp2 NA18966.hp2 NA18982.hp2 NA18983.hp1 NA18998.hp2 NA19005.hp2 NA19009.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0010 a0002c0003 others(2): Show a0001c0001 a0001c0010 a0002c0003 a0002c0013 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0024 a0001c0010t0002 a0002c0003t0002 a0002c0003t0007 a0002c0013t0002 a0007c0007t0029	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0022 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0124 a0001c0001t0002g0039 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0111 a0001c0001t0003g0018 a0001c0001t0003g0027 a0001c0001t0003g0033 a0001c0001t0003g0088 a0001c0001t0003g0109 a0001c0001t0007g0004 a0001c0001t0007g0083 a0001c0001t0024g0066 a0001c0010t0002g0049 a0002c0003t0002g0038 a0002c0003t0002g0044 a0002c0003t0002g0067 a0002c0003t0007g0101 a0002c0013t0002g0086 a0007c0007t0029g0050	33	144	0.2292	-95	c.-73 others(114): Show c.-73+25220_-73+25314delCTGAGTAGCTGGGATTACAGCATGCA CCACCACGCCCGGCTAATTTTTGTATTTTTAGAGAGATGGGGTTTCACCA TGTTGGTCAGGCTGCTCTC	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DMD_chrX_31114222_33216549	32452396	AAGGGAAA others(88): Show AAGGGAAAGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG02015.hp1 others(6): Show HG00642.hp1 HG01109.hp1 HG02015.hp1 HG02132.hp1 HG02698.hp1 HG03139.hp1 NA18955.hp1 NA18983.hp1 NA18988.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0013	a0001c0001 a0001c0002 a0004c0004 others(3): Show a0001c0001 a0001c0002 a0004c0004 a0004c0011 a0005c0045 a0013c0015	a0001c0001t0001 a0001c0002t0001 a0004c0004t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0004c0004t0001 a0004c0011t0001 a0004c0011t0002 a0005c0045t0018 a0013c0015t0001	a0001c0001t0001g0080 a0001c0002t0001g0074 a0001c0002t0001g0105 others(6): Show a0001c0001t0001g0080 a0001c0002t0001g0074 a0001c0002t0001g0105 a0004c0004t0001g0064 a0004c0004t0001g0083 a0004c0011t0001g0085 a0004c0011t0002g0035 a0005c0045t0018g0118 a0013c0015t0001g0030	9	126	0.0714	-95	c.360 others(114): Show c.3603+2171_3603+2265delCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCTTTCCCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DOCK3_chr3_50669927_51389198	51285007	AACTGGAG others(88): Show AACTGGAGCATGCATCCAACACTTTTAACATTTGCAGCTACATAACAAGA GTCTGGCTCCTAAGTTGTCAGTTTCAGAGTATGGAGAGGACATGGC	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	212	0.0047	-95	c.292 others(114): Show c.2922+4806_2922+4900delTGGAGCATGCATCCAACACTTTTAAC ATTTGCAGCTACATAACAAGAGTCTGGCTCCTAAGTTGTCAGTTTCAGAG TATGGAGAGGACATGGCAC	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	27/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOK7_chr4_3458306_3499482	3490122	TTTCTCCC others(88): Show TTTCTCCCTGCTCATTCATTCCTTCCTTCCCCACCCTGCTCATTCATTTC TTCCTCCGCCCCCCCCACTCATTCCTTCCCCCCTCATTCATTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02809.hp2 others(1): Show HG02258.hp1 HG02451.hp1 HG02809.hp2 NA20805.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0007 a0003c0003 a0004c0007	a0003c0003t0007 a0004c0007t0011 a0003c0003t0007 a0004c0007t0011	a0003c0003t0007g0031 a0004c0007t0011g0100 a0004c0007t0011g0189 others(1): Show a0003c0003t0007g0031 a0004c0007t0011g0100 a0004c0007t0011g0189 a0004c0007t0011g0319	4	404	0.0099	-95	c.772 others(110): Show c.772+328_772+422delTCTCCCTGCTCATTCATTCCTTCCTTCCCC ACCCTGCTCATTCATTTCTTCCTCCGCCCCCCCCACTCATTCCTTCCCCC CTCATTCATTCCTGT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DRC7_chr16_57689806_57736805	57706642	TCTCCCAT others(88): Show TCTCCCATCCATCCTCTCACCATCCTCCGATCCATCCATCCTTCCTTCCA TTTCTCCTCCAACCCATCCTCCCATCCGTCCATCCTCCCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(69): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01255.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02071.hp2 HG02074.hp2 HG02145.hp1 HG02165.hp2 HG02280.hp1 HG02300.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18959.hp1 NA18966.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp1 NA18978.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA19000.hp1 NA19003.hp1 NA19058.hp1 NA19074.hp1 NA19079.hp1 NA19084.hp1 NA19087.hp2 NA20752.hp2	a0002 a0005 a0009 others(2): Show a0002 a0005 a0009 a0010 a0014	a0002c0002 a0002c0012 a0002c0045 others(4): Show a0002c0002 a0002c0012 a0002c0045 a0005c0004 a0009c0020 a0010c0011 a0014c0042	a0002c0002t0001 a0002c0002t0002 a0002c0012t0002 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0012t0002 a0002c0045t0002 a0005c0004t0001 a0005c0004t0002 a0005c0004t0005 a0005c0004t0006 a0009c0020t0002 a0010c0011t0001 a0014c0042t0001	a0002c0002t0001g0081 a0002c0002t0002g0005 a0002c0002t0002g0010 others(53): Show a0002c0002t0001g0081 a0002c0002t0002g0005 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0022 a0002c0002t0002g0025 a0002c0002t0002g0090 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0126 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0143 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0155 a0002c0002t0002g0225 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0259 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0303 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0309 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0316 a0002c0002t0002g0319 a0002c0012t0002g0033 a0002c0012t0002g0308 a0002c0012t0002g0310 a0002c0045t0002g0243 a0005c0004t0001g0026 a0005c0004t0001g0154 a0005c0004t0001g0264 a0005c0004t0001g0268 a0005c0004t0001g0269 a0005c0004t0001g0285 a0005c0004t0001g0326 a0005c0004t0002g0131 a0005c0004t0005g0008 a0005c0004t0005g0286 a0005c0004t0005g0288 a0005c0004t0006g0241 a0005c0004t0006g0287 a0005c0004t0006g0324 a0009c0020t0002g0072 a0010c0011t0001g0119 a0014c0042t0001g0188	72	388	0.1856	-95	c.859 others(110): Show c.859-816_859-722delTCCCATCCATCCTCTCACCATCCTCCGATC CATCCATCCTTCCTTCCATTTCTCCTCCAACCCATCCTCCCATCCGTCCA TCCTCCCATCCATCC	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
EHD1_chr11_64846642_64883621	64855879	CACCCTCC others(88): Show CACCCTCCGCTCAACCCTCACCACGCATCACACACCCTCCGCTCAACCCT CACCACGCATCACACACCCTCCGCTCAACCCTCACCACGCATCACA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0102 a0001c0001t0044g0102	1	354	0.0028	-95	c.916 others(110): Show c.916-488_916-394delTGTGATGCGTGGTGAGGGTTGAGCGGAGGG TGTGTGATGCGTGGTGAGGGTTGAGCGGAGGGTGTGTGATGCGTGGTGAG GGTTGAGCGGAGGGT	EHD1	ENSG00000110047.18	transcript	ENST00000320631.8	protein_coding	3/4			chr11	TogoVar
ENOSF1_chr18_665318_717630	667215	AGATGGTG others(88): Show AGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGGATGGTGATGGAGATGGTGATGGTGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0002 a0001c0006t0004g0002	1	418	0.0024	-95	c.69 others(106): Show c.6995_*7089delACCATCACCATCACCATCTCCATCACCATCCCAT CACCATCACCATCTCCATCACCATCACCATCACCATCTCCATCTCCATCA CCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3102		chr18	TogoVar
ENTR1_chr9_136396922_136415614	136403369	CGGGGGAG others(88): Show CGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG GGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG04199.hp2 HG03579.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0192 a0001c0001t0001g0143 a0001c0001t0001g0192	2	412	0.0049	-95	c.120 others(112): Show c.1209-577_1209-483delCGGCAAACCCCACCCCTTGCTCCCAGGA ACCCTGTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACC CTGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EQTN_chr9_27279654_27302150	27301692	TCAAGAGG others(88): Show TCAAGAGGCAGAGTACACCAGTATCCTATTGGGTAGGTCATATAAGTAGT ATAGAGAATGAAGTTGAAGACATACACATACTAAGAAACAAGACAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	446	0.0022	-95	c.-47 others(106): Show c.-4732_-4638delTTGTCTTGTTTCTTAGTATGTGTATGTCTTCAAC TTCATTCTCTATACTACTTATATGACCTACCCAATAGGATACTGGTGTAC TCTGCCTCTTG	EQTN	ENSG00000120160.11	transcript	ENST00000380032.8	protein_coding		4543		chr9	TogoVar
EXD2_chr14_69186498_69249018	69248602	TTGGTTAT others(88): Show TTGGTTATTGCAAAGCTTCATGTTTGTTTTTAGTAAGTTAATTTTTAAAA ATAGGTAAAATGTGCACATAGTATAAAATTTTTAAAAAACATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	234	0.0043	-95	c.75 others(106): Show c.7503_*7597delTGGTTATTGCAAAGCTTCATGTTTGTTTTTAGTA AGTTAATTTTTAAAAATAGGTAAAATGTGCACATAGTATAAAATTTTTAA AAAACATATAA	EXD2	ENSG00000081177.19	transcript	ENST00000685843.1	protein_coding		4585		chr14	TogoVar
EYA4_chr6_133236357_133537128	133285059	CGAGCTCG others(88): Show CGAGCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	264	0.0038	-95	c.33+ others(112): Show c.33+10247_33+10341delGAGCTCGGCTCACTGCAAGCTCCACCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCACCCGCCACCACG	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19			chr6	TogoVar
F10_chr13_113117799_113154529	113151454	TGAGCAGC others(88): Show TGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCG CCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02970.hp1 HG03139.hp2 others(4): Show HG02486.hp1 HG02970.hp1 HG03139.hp2 NA18906.hp2 NA18984.hp1 NA19086.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0110 a0001c0001t0001g0306 others(4): Show a0001c0001t0001g0054 a0001c0001t0001g0110 a0001c0001t0001g0306 a0001c0002t0001g0195 a0001c0002t0001g0287 a0001c0002t0001g0289 a0002c0003t0001g0020	7	412	0.0170	-95	c.19 others(106): Show c.1938_*2032delGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATG GGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACC CTGAGGACCGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		1926		chr13	TogoVar
FBXW7_chr4_152315544_152541092	152480030	AATCAAAG others(88): Show AATCAAAGGTTTTACAATTATAGGTATACCTCCTTGTACTGCATTTCATT TTATTGGACTTCAAACATATTGTGGATTTTACAAAATAATGGTTTG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	268	0.0037	-95	c.-12 others(116): Show c.-120+54816_-120+54910delCAAACCATTATTTTGTAAAATCCA CAATATGTTTGAAGTCCAATAAAATGAAATGCAGTACAAGGAGGTATACC TATAATTGTAAAACCTTTGAT	FBXW7	ENSG00000109670.17	transcript	ENST00000281708.10	protein_coding	2/13			chr4	TogoVar
FER1L5_chr2_96637764_96709883	96659290	TTTCCTTC others(88): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03195.hp1 HG02109.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0206 a0001c0003t0001g0210 a0001c0003t0001g0206 a0001c0003t0001g0210	2	226	0.0089	-95	c.748 others(111): Show c.748-1048_748-954delCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTT TCTTTCTTTCTTTCTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
GABRR2_chr6_89249464_89320299	89292365	TATATATA others(88): Show TATATATATATATATCAGATATATATCGTATCTCTGATATATATATCAGA TATATCGTATCTCTGATATATATATCAGATATATATCGTATCTCTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp2 HG03209.hp2 others(1): Show HG02630.hp2 HG02818.hp2 HG03209.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0026 a0002c0003t0004 a0001c0001t0026 a0002c0003t0004	a0001c0001t0026g0315 a0002c0003t0004g0275 a0002c0003t0004g0276 others(1): Show a0001c0001t0026g0315 a0002c0003t0004g0275 a0002c0003t0004g0276 a0002c0003t0004g0277	4	366	0.0109	-95	c.220 others(112): Show c.220+7299_220+7393delCAGAGATACGATATATATCTGATATATA TATCAGAGATACGATATATCTGATATATATATCAGAGATACGATATATAT CTGATATATATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GABRR2_chr6_89249464_89320299	89292522	GATATATA others(88): Show GATATATATATCAGATATATATCGTATCTCTGATATATATATCAGATATA TATCGTATCTCTGATATATATATCAGATATATATCGTATCTCTGAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02723.hp1 others(5): Show HG01884.hp2 HG02559.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0002c0003t0002	a0001c0001t0002g0013 a0001c0001t0002g0289 a0001c0001t0002g0311 others(5): Show a0001c0001t0002g0013 a0001c0001t0002g0289 a0001c0001t0002g0311 a0001c0001t0005g0210 a0001c0001t0008g0217 a0001c0001t0009g0030 a0001c0001t0009g0031 a0002c0003t0002g0353	8	366	0.0219	-95	c.220 others(112): Show c.220+7142_220+7236delATCAGAGATACGATATATATCTGATATA TATATCAGAGATACGATATATATCTGATATATATATCAGAGATACGATAT ATATCTGATATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GALNT9_chr12_132191372_132334589	132233070	TCCCTAGT others(88): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCCTACTGCCACACACTCCATGGGGCGACAGGAGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02148.hp2 HG03139.hp1 others(1): Show HG01106.hp1 HG02148.hp2 HG03139.hp1 NA19056.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0007 others(1): Show a0001c0002 a0001c0004 a0001c0007 a0004c0024	a0001c0002t0005 a0001c0004t0001 a0001c0007t0001 others(1): Show a0001c0002t0005 a0001c0004t0001 a0001c0007t0001 a0004c0024t0001	a0001c0002t0005g0066 a0001c0004t0001g0016 a0001c0007t0001g0061 others(1): Show a0001c0002t0005g0066 a0001c0004t0001g0016 a0001c0007t0001g0061 a0004c0024t0001g0160	4	183	0.0219	-95	c.107 others(116): Show c.1077+14745_1077+14839delGCTCCACGCTGTCTCCTGTCGCCC CATGGAGTGTGTGGCAGTAGGGGACTCCACGCTGTCTCCTCTGTCGCCCC ATCGAGTGTGTGGCACTAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GLI2_chr2_120730868_120997653	120737862	GAAATCCA others(88): Show GAAATCCAAAATATACAGCGGGGAAAGCGGAGGAATAGGCGGGTTTGTCA CAGGCCTCCCTGATGAGACCAGTTTGTTCCAGCCACCTCACCTGCC	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0004 a0002c0023t0004	a0002c0023t0004g0137 a0002c0023t0004g0137	1	160	0.0063	-95	c.-31 others(112): Show c.-31+1579_-31+1673delAATCCAAAATATACAGCGGGGAAAGCGG AGGAATAGGCGGGTTTGTCACAGGCCTCCCTGATGAGACCAGTTTGTTCC AGCCACCTCACCTGCCA	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GNG7_chr19_2506219_2707694	2696265	AGAAGGAG others(88): Show AGAAGGAGAGAAAGAAAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0186 a0001c0001t0046g0186	1	206	0.0049	-95	c.-13 others(114): Show c.-135+6286_-135+6380delCTTTTCTTTCTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCT CTTTTTCTTTCTCTCCTTC	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4			chr19	TogoVar
GPR146_chr7_1039546_1064261	1059762	AGTGGGGC others(88): Show AGTGGGGCGGGTCCGTAATGAGGCGGGTCTTAGGCAGGCCCGTAGTGGGG CGGGTCTGTAGTGGGGCGGGTCTGTAGTGAGGCGGGTCCGTAGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp2 others(15): Show HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01243.hp2 HG01928.hp2 HG02273.hp1 HG03098.hp2 HG03471.hp2 HG03927.hp1 NA18522.hp2 NA18747.hp1 NA18955.hp1 NA19004.hp2 NA19010.hp1 NA19054.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0011 a0001c0002t0005g0042 a0001c0002t0005g0047 others(8): Show a0001c0002t0005g0011 a0001c0002t0005g0042 a0001c0002t0005g0047 a0001c0002t0005g0070 a0001c0002t0005g0072 a0001c0002t0005g0078 a0001c0002t0005g0202 a0001c0002t0005g0208 a0001c0002t0005g0219 a0001c0002t0005g0220 a0001c0002t0005g0228	18	434	0.0415	-95	c.12 others(106): Show c.1246_*1340delGTGGGGCGGGTCCGTAATGAGGCGGGTCTTAGGC AGGCCCGTAGTGGGGCGGGTCTGTAGTGGGGCGGGTCTGTAGTGAGGCGG GTCCGTAGTGG	GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding		502		chr7	TogoVar
GPR35_chr2_240620480_240638159	240623367	CGCAAACA others(88): Show CGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGATC GTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01255.hp1 HG01256.hp1 others(25): Show HG00438.hp2 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp2 HG02027.hp2 HG02145.hp1 HG02165.hp2 HG02572.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03834.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA19005.hp1 NA19010.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0012	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0012c0018	a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 others(7): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0018 a0002c0002t0035 a0002c0002t0037 a0003c0003t0001 a0005c0005t0007 a0012c0018t0002	a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0042 others(21): Show a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0042 a0001c0001t0002g0103 a0002c0002t0001g0008 a0002c0002t0004g0197 a0002c0002t0005g0006 a0002c0002t0005g0017 a0002c0002t0018g0150 a0002c0002t0035g0085 a0002c0002t0037g0117 a0003c0003t0001g0016 a0003c0003t0001g0049 a0003c0003t0001g0119 a0003c0003t0001g0123 a0003c0003t0001g0133 a0003c0003t0001g0149 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0160 a0005c0005t0007g0088 a0012c0018t0002g0023	28	400	0.0700	-95	c.-22 others(106): Show c.-2205_-2111delGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGA GGGCGCAAACAGATCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAG GTCGTGAGGGT	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2112		chr2	TogoVar
GPR35_chr2_240620480_240638159	240623405	CGCAAACA others(88): Show CGCAAACAGATCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTC GTGAGGGTGCAAACAGGTCGTGAGGGCGCAAACAGGTCGTGAGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02486.hp2 others(3): Show HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0011 a0001c0001t0029 a0002c0006t0009 others(1): Show a0001c0001t0011 a0001c0001t0029 a0002c0006t0009 a0002c0006t0038	a0001c0001t0011g0044 a0001c0001t0011g0116 a0001c0001t0029g0118 others(2): Show a0001c0001t0011g0044 a0001c0001t0011g0116 a0001c0001t0029g0118 a0002c0006t0009g0128 a0002c0006t0038g0129	6	400	0.0150	-95	c.-21 others(106): Show c.-2167_-2073delGCAAACAGATCGTGAGGGCGCAAACAGGTCGTGA GGGCGCAAACAGGTCGTGAGGGTGCAAACAGGTCGTGAGGGCGCAAACAG GTCGTGAGGGT	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding		2074		chr2	TogoVar
GSTM4_chr1_109651099_109666700	109654095	AAGAAAGA others(88): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01071.hp1 others(11): Show HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01361.hp1 HG01934.hp1 HG01978.hp1 HG02683.hp2 HG03688.hp2 HG03710.hp2 NA18992.hp2 NA19005.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0077 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0077 a0003c0004t0001g0048	14	364	0.0385	-95	c.-22 others(106): Show c.-2294_-2200delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		2003		chr1	TogoVar
GUCY1A2_chr11_106669019_107023476	106709287	ATATATTT others(88): Show ATATATTTATATTTTTATATTTATATATATTTATATATATTATATAAATA TATATAAATTTATATATTTTATATAATATATATAAATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0195 a0001c0002t0056g0195	1	256	0.0039	-95	c.183 others(112): Show c.1837-716_1837-622delATATATATAATTTATATATATTATATAA AATATATAAATTTATATATATTTATATAATATATATAAATATATATAAAT ATAAAAATATAAATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
IGF2_chr11_2124117_2144389	2125907	CTGGGTGG others(88): Show CTGGGTGGGTGGATGGAGGGTGAGTGGATGGATGGATGAGTGGGTGAGTG GGTAAGTGGGTGAGTGGGTAGATGGATAGATGAATAGATAGATGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0234 a0001c0001t0015g0234	1	388	0.0026	-95	c.69 others(106): Show c.6985_*7079delCTCATCTATCTATTCATCTATCCATCTACCCACT CACCCACTTACCCACTCACCCACTCATCCATCCATCCACTCACCCTCCAT CCACCCACCCA	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		3209		chr11	TogoVar
IL13RA1_chrX_118722606_118799533	118796837	ATAGTGTC others(88): Show ATAGTGTCTTTTAAGAGATTCATTTGTGCATTCATTTATCTACGAGCTAG ACAATGTGTTATGTAATAGGAATTTAGAAGTCAATAAGATTTGGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	280	0.0036	-95	c.49 others(106): Show c.4984_*5078delTAGTGTCTTTTAAGAGATTCATTTGTGCATTCAT TTATCTACGAGCTAGACAATGTGTTATGTAATAGGAATTTAGAAGTCAAT AAGATTTGGCT	IL13RA1	ENSG00000131724.11	transcript	ENST00000371666.8	protein_coding		2305		chrX	TogoVar
IL3RA_chrX_1331785_1387689	1365562	CGCGGGGT others(88): Show CGCGGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCGG GGTGAGCCGGGTGAGCCGGGTGAGCCGGGTGCGCGGGGTGAGCCGG	C C	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0012 a0008c0009t0012	a0008c0009t0012g0041 a0008c0009t0012g0041	1	115	0.0087	-95	c.874 others(110): Show c.874+312_874+406delCGGGGTGAGCGGGGTGAGCCGGGTGCGCGG GGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGAGCCGGGTGAGCCGGGTGC GCGGGGTGAGCCGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1365854	GGGTGAGC others(88): Show GGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTG CGCGGGGTGAGCCGGGTGAGCGGGGTGAGCGGGGTGCGGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	115	0.0087	-95	c.874 others(110): Show c.874+607_874+701delAGCGGGGTGCGCGGGGTGAGCCGGGTGCGC GGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCGGGGTGAGCGGGGT GCGGGGTGCGCGGTG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5D_chr2_233055342_233212903	233144596	AAGGTGGT others(88): Show AAGGTGGTAGTGGTGATGGTGATGGTGGAGGTGGTTATGATCATGGTGGG AGTGATGGGGTAGAGATGGTGGTGGTGATGGTGATGGTGAGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG02071.hp1 others(2): Show HG00597.hp1 HG01081.hp1 HG02071.hp1 HG02559.hp1 NA19066.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0008c0027 a0001c0001 a0001c0004 a0008c0027	a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 others(1): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0008c0027t0012	a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0004t0001g0139 others(2): Show a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0004t0001g0139 a0001c0004t0002g0212 a0008c0027t0012g0127	5	310	0.0161	-95	c.754 others(112): Show c.754-1555_754-1461delGGTGATGGTGATGGTGGAGGTGGTTATG ATCATGGTGGGAGTGATGGGGTAGAGATGGTGGTGGTGATGGTGATGGTG AGGGTGGAGGTGGTAGT	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)