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
SIGIRR_chr11_400716_419999	401625	A A	ACCCGACC others(193): Show ACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	242	0.0041	200	c.42 others(211): Show c.4270_*4271insGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTG AGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGG GGGTGAGCGGGTCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4090		chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGGT others(193): Show GGGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGG GTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCT CTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTC TGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGT C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp2 NA20805.hp2 HG01099.hp1 HG01243.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0195 a0001c0001t0001g0221 a0001c0001t0001g0026 a0001c0001t0001g0195 a0001c0001t0001g0221	3	242	0.0124	200	c.-15 others(219): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCGACTGTATCCAGACAT GGTCAGAGCTGGGCACCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(193): Show GGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG GTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCT CTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTC TGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGT C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02622.hp1 NA18943.hp2 others(2): Show HG00621.hp1 HG02622.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0011 a0008c0010 a0001c0001 a0006c0011 a0008c0010	a0001c0001t0001 a0006c0011t0001 a0008c0010t0001 a0001c0001t0001 a0006c0011t0001 a0008c0010t0001	a0001c0001t0001g0144 a0001c0001t0001g0161 a0001c0001t0001g0184 others(2): Show a0001c0001t0001g0144 a0001c0001t0001g0161 a0001c0001t0001g0184 a0006c0011t0001g0190 a0008c0010t0001g0053	5	242	0.0207	200	c.-15 others(219): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCGACTGTATCCAGACA TGGTCAGAGCTGGGCACCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(193): Show GGGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG TGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGGTGCTCAGCT CTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTC TGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGT C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	242	0.0041	200	c.-15 others(219): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCCGACTGC ATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCGACTGTATCCAGACA TGGTCAGAGCTGGGCACCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(193): Show GGGGGGTGGTGCCTAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGG GTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGTGCTCAGCT CTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTC TGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGT C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	242	0.0041	200	c.-15 others(219): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCGACTGCA TCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCGACTGTATCCAGACA TGGTCAGAGCTAGGCACCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411274	G G	GGGGGTGG others(193): Show GGGGGTGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGGGG TGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGGTGCTCAGCT CTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGACCATGTC TGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGATACAGT C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	242	0.0041	200	c.-15 others(219): Show c.-153-1248_-153-1247insGACTGTATCCAGACATGGTCAGAGCT GGGCACCTCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCTCC CCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCCCCCCCCCGACTGC ATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCGACTGTATCCAGAC ATGGTCAGAGCTGGGCACCACCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77704127	T T	TACGTTTT others(193): Show TACGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTT ATATGTATATATACATAGAAAATATATATACATATGTTTTATATGTATAT ATACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAA AATATATATACATGTTTTATATGTATATATATACATAGAAAATATATATA C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	300	0.0033	200	c.626 others(217): Show c.626+5589_626+5590insCGTTTTATATGTATATATATACATAGAA AATATATATACATATGTTTTATATGTATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTAT ATGTATATATATACATAGAAAATATATATACATGTTTTATATGTATATAT ATACATAGAAAATATATATACA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(193): Show TATGTTTTATATGTATATATACATAGAAAATATATGTACATATGTTTTAT ATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTATAT ATACATAGAAAATATATGTACATATGTTTTATATGTATATATACATAGAA AATATATGTACATATGTTTTATATGTATATATACATAGAAAATATATATA C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	300	0.0033	200	c.626 others(217): Show c.626+5734_626+5735insCATAGAAAATATATGTACATATGTTTTA TATGTATATATACATAGAAAATATATGTACATATGTTTTATATGTATATA TACATAGAAAATATATGTACATATGTTTTATATGTATATATACATAGAAA ATATATATACATGTTTTATATGTATATATACATAGAAAATATATGTACAT ATGTTTTATATGTATATATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(193): Show GTATATATATATATATATATATATATATACTCTAAGTATTATATATTATA TACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATAT ATATATATATTTATACACACATATATATACATACACATATATATATACAC ACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATAT A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01361.hp1 others(8): Show HG00597.hp2 HG00609.hp2 HG01361.hp1 HG01993.hp1 HG02129.hp2 HG02818.hp1 HG03540.hp1 NA18945.hp1 NA18968.hp1 NA19076.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0013 a0001c0002t0001 a0001c0002t0013	a0001c0002t0001g0088 a0001c0002t0001g0105 a0001c0002t0001g0107 others(8): Show a0001c0002t0001g0088 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0132 a0001c0002t0001g0170 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0230 a0001c0002t0013g0084	11	266	0.0414	200	c.240 others(219): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(193): Show GTATATATATATATATATATATATATATATACTCTAAGTATTATATATTA TATACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTAT ATATATATATATTTATACACACATATATATACATACACATATATATATAC ACACACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATAT A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02148.hp2 HG02273.hp1 others(3): Show HG02004.hp1 HG02148.hp2 HG02273.hp1 NA18977.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0182 a0001c0002t0001g0140 a0001c0002t0001g0142 others(3): Show a0001c0001t0001g0182 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0002g0131 a0001c0002t0008g0045 a0001c0002t0008g0046	6	266	0.0226	200	c.240 others(219): Show c.2402+1016_2402+1017insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATA TATATTTATACACACATATATATACATACACATATATATATACACACACA CACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA TATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270750	G G	GTATATAT others(193): Show GTATATATATATATATATATATATATATATACTCTAAGTATTATATATTA TATACTCCAAAACTGTGTGTGTGTGTGTATATATATATATATGTATATAT ATATATATTTATACACACATATATATACATACACATATATATATACACAC ACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATAT A	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	266	0.0038	200	c.240 others(219): Show c.2402+1016_2402+1017insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTATATATATATATATGTATATATATATATA TTTATACACACATATATATACATACACATATATATATACACACACACACA GAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATATATA TATATATATATATATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1072752	G G	GAGCCCCC others(193): Show GAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	118	0.0085	200	c.224 others(217): Show c.2241+880_2241+881insGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTG TGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC25A12_chr2_171778405_171899244	171866678	G G	GCGGGGGG others(193): Show GCGGGGGGCTGACCCCCCTACCTCCCTCCCGGAAGGGGCGGCTGGCCGGG GGGGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGGGGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTCGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0266	1	314	0.0032	200	c.209 others(217): Show c.209+2002_209+2003insGCCGGCCAGCCGCCCCGTCCAGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCGAGCCGCCCCGTCTGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCCCCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCCCCCCCCGGCCAGCCGCCCCTTCCGGGAGGG AGGTAGGGGGGTCAGCCCCCCG	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC25A41_chr19_6421037_6438763	6429100	T T	TATATATA others(193): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAC ATATATATAATATATATATTATATATATGTTATATATATATATAATATAT ATATTATATATATGTTACATATATATAATATATATATTATATATATGTTA C	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18947.hp1 NA19007.hp2 others(1): Show HG02083.hp2 NA18947.hp1 NA19007.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0281 a0001c0001t0001g0011 a0001c0001t0001g0281	4	350	0.0114	200	c.624 others(215): Show c.624+623_624+624insGTAACATATATATAATATATATATTATATA TATGTAACATATATATAATATATATATTATATATATATATAACATATATA TAATATATATATTATATATATGTAACATATATATAATATATATATTATAT ATATGTAACATATATATAATATATATATTATATATATATATAACATATAT ATAATATATATATTATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429100	T T	TATATATA others(193): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAT ATATATATATAATATATATATTATATATATGTTACATATATATAATATAT ATATTATATATATGTTACATATATATAATATATATATTATATATATGTTA C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	350	0.0029	200	c.624 others(215): Show c.624+623_624+624insGTAACATATATATAATATATATATTATATA TATGTAACATATATATAATATATATATTATATATATGTAACATATATATA ATATATATATTATATATATATATAACATATATATAATATATATATTATAT ATATGTAACATATATATAATATATATATTATATATATATATAACATATAT ATAATATATATATTATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC35F1_chr6_117902264_118322671	117923758	C C	CATATATG others(193): Show CATATATGTATATATACATATATACATATGTATATATATACATATATGTA CATATGTACATATATACATATACATATATGTACATATACACATATACATA TGTATATATACATATATGTACACATGTACATATACATATGTATATATGTA CATATGTACATATATGTATATATACATATGTATATATACATATATGCACA T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0089 a0001c0001t0007g0089	1	182	0.0055	200	c.173 others(219): Show c.173+15863_173+15864insATGTATATATACATATATACATATGT ATATATATACATATATGTACATATGTACATATATACATATACATATATGT ACATATACACATATACATATGTATATATACATATATGTACACATGTACAT ATACATATGTATATATGTACATATGTACATATATGTATATATACATATGT ATATATACATATATGCACATATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923758	C C	CATATATG others(193): Show CATATATGTATATATACATATATACATATGTATATATATACATATATGTA CATATGTACATATATACATATACATATATGTACATATACACATATACATA TGTATATATACATATATGTACACATGTACATATACATATGTATATATGTA CATATGTACATATATGTATATATACATATGTATATATACATATATGTACA T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	182	0.0055	200	c.173 others(219): Show c.173+15863_173+15864insATGTATATATACATATATACATATGT ATATATATACATATATGTACATATGTACATATATACATATACATATATGT ACATATACACATATACATATGTATATATACATATATGTACACATGTACAT ATACATATGTATATATGTACATATGTACATATATGTATATATACATATGT ATATATACATATATGTACATATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F3_chr1_233899676_234329511	234140002	A A	AATAAAAT others(193): Show AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAA T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0025 a0001c0002t0007g0025	1	158	0.0063	200	c.284 others(219): Show c.284-91415_284-91414insATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAAAAAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7			chr1	TogoVar
SLC37A3_chr7_140328752_140403530	140387743	T T	TTATATAA others(193): Show TTATATAAATATATATTATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATTATATATAAATATAAATATAT TATATATATTATATATAAATATAAATATATTATATATATTATATATAAAT ATAAATATATTATATATATTATATATAAATATAAATATATTATATATATT A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03471.hp2 HG02622.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0083 a0001c0001t0002g0084	2	346	0.0058	200	c.-70 others(217): Show c.-70-5148_-70-5147insTAATATATATAATATATTTATATTTATA TATAATATATATAATATATTTATATTTATATATAATATATATAATATATT TATATTTATATATAATATATATAATATATTTATATTTATATATAATATAT AATATATTTATATTATATATAATATATATAATATATTTATATTATATATA ATATATAATATATATTTATATA	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC45A4_chr8_141202174_141313288	141203368	A A	AGGGAGAG others(193): Show AGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGACCGTGGA GAGAGAGAGAGAGAGAGAGGGAGGGAGAGGGAGAGGGAGACCGTGGAGAG AGAGAGAGAGAGAGAGACCGTGGAGGAGAGAGAGAGAGAGGGAGAGGGAG AGAGGGAGAGAGGGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0014 a0004c0007t0014	a0004c0007t0014g0149 a0004c0007t0014g0149	1	188	0.0053	200	c.82 others(211): Show c.8203_*8204insCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCTCTCTCTCCTCCACGG TCTCTCTCTCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCCCTCCCT CTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCCCTCTCTC CCTCTCTCCCTCTCCC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3805		chr8	TogoVar
SLC6A11_chr3_10811228_10945714	10873394	C C	CCTATCCT others(193): Show CCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTATCCTAC ACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCTAT CCTATGCTATGCTATCCTGTCCTATCCTATGCTATCCTATCCTATCCTAT CCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCTAT G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0250 a0001c0005t0002g0250	1	362	0.0028	200	c.757 others(217): Show c.757-1563_757-1562insCCTATCCTATCCTATGGCATGCCATCCT ACCCTACCCTATCCTACACTATCCTATCCTATCCTATGCCATGCCATGCC ATCCTATCCTATCCTATCCTATGCTATGCTATCCTGTCCTATCCTATGCT ATCCTATCCTATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCT ATCCTATCCTATCCTATGCTAT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873409	C C	CCTATCCT others(193): Show CCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTATCCTAC ACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCTAT CCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCTAT CCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCTAT G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG01256.hp1 others(30): Show HG00423.hp1 HG00558.hp2 HG01256.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp2 HG01993.hp2 HG02074.hp2 HG02135.hp1 HG02273.hp1 HG03942.hp1 NA18612.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18955.hp2 NA18961.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18992.hp1 NA18992.hp2 NA19002.hp1 NA19006.hp1 NA19011.hp1 NA19054.hp2 NA19068.hp2 NA19088.hp2 NA19091.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0029	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0002t0002 a0001c0003t0001 a0001c0007t0004 a0001c0010t0001 a0001c0029t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(30): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0182 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0003g0087 a0001c0001t0012g0303 a0001c0001t0012g0304 a0001c0002t0002g0078 a0001c0002t0002g0187 a0001c0003t0001g0152 a0001c0007t0004g0088 a0001c0007t0004g0097 a0001c0010t0001g0032 a0001c0029t0001g0052	33	362	0.0912	200	c.757 others(217): Show c.757-1533_757-1532insGGCATGCCATCCTACCCTACCCTATCCT ACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCT ATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCT ATGCTATCCTATCCTATCCTAT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC8A1_chr2_40092270_40457090	40288842	T T	TATATATA others(193): Show TATATATACATATATATATACGTATATATATATATATACATATATATATA CGTATATATATATATACGTATATATATACGTATATATATATATATACGTA TATATATATGTATATATATATATATACGTATATATATATGTATATATATA TATATACGTATATATATATGTATATATATATGTGTGTATATATATATATA C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0170 a0001c0001t0057g0170	1	236	0.0042	200	c.180 others(223): Show c.1809-110350_1809-110349insGTATATATATATATACACACAT ATATATATACATATATATATACGTATATATATATATATACATATATATAT ACGTATATATATATATATACATATATATATACGTATATATATATATATAC GTATATATATACGTATATATATATATACGTATATATATATGTATATATAT ATATATACGTATATATATATGTATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLCO3A1_chr15_91848708_92170903	92047118	T T	TATATATA others(193): Show TATATATATAAATATATATATAATATATATATAAATATATATATAATATA TATATATATAAATATATATATAATATATATATATATAAATATATATATAA TATATATATAAATATATATATAATATATATATATATAAATATATATATAA TATATATATATATAAATATATATATAATATATATATATAAATATATATAT A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0156 a0001c0001t0015g0156	1	190	0.0053	200	c.647 others(219): Show c.647-47762_647-47761insTATATATAAATATATATATAATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATATAAT ATATATATATAAATATATATATAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLIT3_chr5_168656740_169306139	168746788	T T	TGGTGGTA others(193): Show TGGTGGTATGGTGGTGTGTGGTGGTGTGGGTGTGGCGGTGTGTGGTGGTG TGTGGTGTGTGAGTGTGGTGGTATGGTGGTGTGTGGTGGTGTGGGTGTGG TGGTGTGTGGTGTGGGTGTGGTGGTGTGTGGTGTGGGTGTGGCGGTGTGT GGTGGTGTGTGGTGGTGTGTGGTGTGGGTGTGGCGGTGTGTGGTGGTGTG C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0035 a0001c0009t0012g0035	1	132	0.0076	200	c.227 others(219): Show c.2270+1513_2270+1514insGCACACCACCACACACCGCCACACCC ACACCACACACCACCACACACCACCACACACCGCCACACCCACACCACAC ACCACCACACCCACACCACACACCACCACACCCACACCACCACACACCAC CATACCACCACACTCACACACCACACACCACCACACACCGCCACACCCAC ACCACCACACACCACCATACCACC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(193): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02723.hp2 HG01081.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0100 a0001c0001t0001g0019 a0001c0001t0001g0100	2	380	0.0053	200	c.17 others(211): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMYD3_chr1_245744347_246512279	246325041	C C	CGCGGGGG others(193): Show CGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAG AAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGG AGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGGGAGAAGGAGTCGGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTC G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	150	0.0067	200	c.531 others(217): Show c.531+2159_531+2160insCGACTCCTTCTCCCTCCTTCCCGCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCC CGGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCC TCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325241	C C	CGGGGGGG others(193): Show CGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAG AAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAA GGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTC G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03471.hp2 HG03017.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0002 a0001c0001t0001 a0002c0005t0002	a0001c0001t0001g0036 a0002c0005t0002g0115 a0001c0001t0001g0036 a0002c0005t0002g0115	2	150	0.0133	200	c.531 others(217): Show c.531+1959_531+1960insCGACTCCTTCTCCCTCCTTCCCGCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCT CCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCT TCTCCCTCCTTCCTGCCCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNPH_chr20_1261294_1314327	1302147	T T	TTAGCAAT others(193): Show TTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAA AATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAA TATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCA GTTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG02293.hp2 HG00735.hp1 HG01070.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0004 a0001c0001t0009 a0001c0002t0004	a0001c0001t0009g0262 a0001c0001t0009g0319 a0001c0002t0004g0106 a0001c0001t0009g0262 a0001c0001t0009g0319 a0001c0002t0004g0106	3	350	0.0086	200	c.440 others(217): Show c.440+1451_440+1452insATTTCTAATTTCATCAATATTTCTATCA CCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTT CATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCA CCGCCAGTTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCC ATTCCCATAGCAATCACCGCCA	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNTG2_chr2_945849_1372613	1221484	T T	TGTCTCTT others(193): Show TGTCTCTTTGTCCCTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCC TCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCACTGTC TCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTC TCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTG C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02015.hp2 HG02273.hp1 others(6): Show HG01517.hp1 HG02015.hp2 HG02273.hp1 HG02965.hp2 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18984.hp1 NA20129.hp2	a0003 a0006 a0009 others(1): Show a0003 a0006 a0009 a0021	a0003c0008 a0006c0009 a0006c0010 others(3): Show a0003c0008 a0006c0009 a0006c0010 a0006c0028 a0009c0013 a0021c0030	a0003c0008t0001 a0006c0009t0001 a0006c0010t0001 others(3): Show a0003c0008t0001 a0006c0009t0001 a0006c0010t0001 a0006c0028t0001 a0009c0013t0001 a0021c0030t0001	a0003c0008t0001g0190 a0006c0009t0001g0011 a0006c0009t0001g0094 others(6): Show a0003c0008t0001g0190 a0006c0009t0001g0011 a0006c0009t0001g0094 a0006c0009t0001g0121 a0006c0010t0001g0009 a0006c0010t0001g0162 a0006c0028t0001g0117 a0009c0013t0001g0164 a0021c0030t0001g0160	9	190	0.0474	200	c.719 others(219): Show c.719+12254_719+12255insGTCTCTTTGTCCCTCTCTGTCTCTCT CTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCT GTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTGTGT CTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTT GTCTCTGTCTCTCTCTGTCTCTGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNTG2_chr2_945849_1372613	1221772	C C	CCTCTGTC others(193): Show CCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTG TCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTC TCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTG CCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTGTCTCTG T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp2 HG02976.hp2 HG03471.hp2	a0003 a0003	a0003c0007 a0003c0008 a0003c0007 a0003c0008	a0003c0007t0001 a0003c0008t0001 a0003c0007t0001 a0003c0008t0001	a0003c0007t0001g0068 a0003c0008t0001g0044 a0003c0007t0001g0068 a0003c0008t0001g0044	2	190	0.0105	200	c.719 others(219): Show c.719+12546_719+12547insGTCTCTCTCTTTGTCCCTCTCTGTCT CTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCT GTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGC CTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCA GTCTCTGGTTTTGTCTCTGTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(193): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATATAT TTATATATATAAATATATATATATAAATATATATATATTTATATATATAA ATATATATATATAAATATATATATATTTATATATATAAATATATATATAT T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02523.hp1 HG02572.hp1 others(9): Show HG02257.hp1 HG02523.hp1 HG02572.hp1 HG02717.hp1 HG02809.hp2 HG02896.hp1 NA18945.hp1 NA18966.hp2 NA18992.hp2 NA19062.hp1 NA19066.hp2 NA19082.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0021 a0001c0001 a0001c0002 a0008c0021	a0001c0001t0004 a0001c0002t0001 a0008c0021t0004 a0001c0001t0004 a0001c0002t0001 a0008c0021t0004	a0001c0001t0004g0005 a0001c0001t0004g0037 a0001c0002t0001g0149 others(9): Show a0001c0001t0004g0005 a0001c0001t0004g0037 a0001c0002t0001g0149 a0001c0002t0001g0157 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0200 a0001c0002t0001g0220 a0001c0002t0001g0253 a0008c0021t0004g0005	12	382	0.0314	200	c.159 others(217): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATAAATATATATATATT TATATATATAAATATATATATATAAATATATATATATTTATATATATAAA TATATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(193): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp1 HG01243.hp1 others(4): Show HG01109.hp1 HG01175.hp1 HG01243.hp1 HG02293.hp1 HG03688.hp2 HG04199.hp1 NA18962.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0004	a0001c0001t0003 a0001c0001t0012 a0001c0003t0008 others(3): Show a0001c0001t0003 a0001c0001t0012 a0001c0003t0008 a0001c0006t0005 a0002c0004t0002 a0002c0004t0024	a0001c0001t0003g0048 a0001c0001t0012g0047 a0001c0003t0008g0135 others(4): Show a0001c0001t0003g0048 a0001c0001t0012g0047 a0001c0003t0008g0135 a0001c0006t0005g0165 a0002c0004t0002g0013 a0002c0004t0024g0057 a0002c0004t0024g0114	7	168	0.0417	200	c.548 others(219): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449241	C C	CCCTCCCT others(193): Show CCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0001 a0001c0051t0001	a0001c0051t0001g0068 a0001c0051t0001g0068	1	168	0.0060	200	c.548 others(219): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTTCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX11_chr2_5687384_5706385	5706341	G G	GGTAGGCT others(193): Show GGTAGGCTGGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAG GCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGG GTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGACTGGGGTAGAG GAACAGGTAGGCTGGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTG A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	434	0.0023	200	c.12 others(213): Show c.12294_*12295insGTAGGCTGGGGTGGAGGAGCTGGGAGGCCAGG GTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGA GGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCA GGGAGACTGGGGTAGAGGAACAGGTAGGCTGGGGTGGAGGAGCTGGGAGG CCAGGGTGGAGGAGTTGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4957		chr2	TogoVar
SPAAR_chr9_35904490_35916686	35913676	G G	GTATGCTG others(193): Show GTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTATTTTT GTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTT ATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTT TTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTATTTTT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02818.hp1 HG03516.hp2 HG02723.hp2 HG02818.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0009 a0001c0001t0005g0002 a0001c0001t0005g0009	3	420	0.0071	200	c.29 others(211): Show c.2985_*2986insTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGT AGTGTGTGTATTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGT AGTGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGT GTAGTGTGTATTTTTT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		1991		chr9	TogoVar
SPIRE2_chr16_89823475_89876319	89852352	C C	CCCGTCTT others(193): Show CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCC GTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGA T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02698.hp1 HG01167.hp1 HG01169.hp1 HG02698.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0296 a0003c0005t0001g0298 a0003c0005t0001g0299 a0003c0005t0001g0296 a0003c0005t0001g0298 a0003c0005t0001g0299	3	356	0.0084	200	c.645 others(217): Show c.645+1694_645+1695insGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT CCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCT CACCCCCCGGATCCCATGATCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852371	C C	CAACCCCC others(193): Show CAACCCCCCAGATCCCCTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGA TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	356	0.0028	200	c.645 others(217): Show c.645+1711_645+1712insAACCCCCCAGATCCCCTGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCT CTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCC GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATG GCCCGTCTTCCGTCCTCCCTCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852391	C C	CCCGTCTT others(193): Show CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCC GTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGA T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	356	0.0028	200	c.645 others(217): Show c.645+1733_645+1734insGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT CCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCT CACCCCCCGGATCCCATGATCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852420	G G	GATCCCCT others(193): Show GATCCCCTGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGA TCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG C	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	356	0.0028	200	c.645 others(217): Show c.645+1765_645+1766insCTGGCCCGTCATCCGTCTTCTCTCTCAC CCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGCATCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852469	C C	CCCGTCTT others(193): Show CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCC GTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGA T	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18960.hp2 NA19007.hp1 HG02027.hp2 NA18960.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0007g0026 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0007g0026	3	356	0.0084	200	c.645 others(217): Show c.645+1811_645+1812insGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT CCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCT CACCCCCCGGATCCCATGATCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(193): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	356	0.0028	200	c.646 others(217): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852814	G G	GCATCCCA others(193): Show GCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTC CATCCTCCCTCTCACCCCCCAGATCCCATGGCCCCTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0148 a0012c0017t0001g0148	1	356	0.0028	200	c.646 others(217): Show c.646-1472_646-1471insCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCCCCAGATCCCAT GGCCCCTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852861	A A	ATGGCCCG others(193): Show ATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTC TTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTC CCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC CCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCC C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	356	0.0028	200	c.646 others(217): Show c.646-1419_646-1418insGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCAGATCCCCTGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852875	G G	GTCCTCCC others(193): Show GTCCTCCCTCTCACCCTCAAGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCCTCTTCCGTCCTCCCTCTCACCCTCAA GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCTCAAGATCCCATGGCCCGTCTTCC A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0255 a0011c0022t0001g0255	1	356	0.0028	200	c.646 others(217): Show c.646-1396_646-1395insTCAAGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCCTCTTCCGTCCTCCCTCTCAC CCTCAAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCTCAAGATCCCATGGCCCG TCTTCCATCCTCCCTCTCACCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(193): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0161 a0001c0006t0001g0161	1	260	0.0039	200	c.138 others(219): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCTC CCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRBD1_chr2_45383680_45616267	45587087	T T	TTTTTTAA others(193): Show TTTTTTAAATATTTAATTATTTTAAAATATAATTATTAAAATATTTAAAA TTTTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTTAAAA ATTTTTAAATATTTAATTATTTTAAAATATAATTATTAAAATATTTAAAA TTTTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTTAAAA A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	358	0.0028	200	c.649 others(217): Show c.649-1314_649-1313insTTTTTAAATATTTTAATATTTATAATTT AAAATAATTAAATATTTAAAAAATTTTAAATATTTTAATAATTATATTTT AAAATAATTAAATATTTAAAAATTTTTAAATATTTTAATATTTATAATTT AAAATAATTAAATATTTAAAAAATTTTAAATATTTTAATAATTATATTTT AAAATAATTAAATATTTAAAAA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRXN1_chr20_641615_658200	642043	G G	GGGGGAGG others(193): Show GGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	422	0.0024	200	c.66 others(211): Show c.6670_*6671insTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCTCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4571		chr20	TogoVar
SSH2_chr17_29620938_29935228	29895242	A A	ATTATATA others(193): Show ATTATATATACATTTTATATATGAAATATATAAAATATATTTTATATATA CATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTATAT ATGAAATATATAAAATATATTTTATATATACATTTTATATATGAAATATA TAAAATATATTTTATATATACATTTTATATATGAAATATATAAAATATAT T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp2 others(16): Show HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00621.hp1 HG01517.hp1 HG01891.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02135.hp1 HG02630.hp1 HG04199.hp1 NA18522.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18991.hp2 NA19000.hp1 NA19043.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0014 a0001c0001 a0002c0002 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0029 a0002c0002t0002 a0002c0002t0005 a0013c0014t0008	a0001c0001t0001g0143 a0001c0001t0002g0134 a0001c0001t0002g0138 others(16): Show a0001c0001t0001g0143 a0001c0001t0002g0134 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0019g0154 a0001c0001t0029g0164 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0202 a0002c0002t0002g0212 a0002c0002t0005g0208 a0013c0014t0008g0177	19	232	0.0819	200	c.63+ others(217): Show c.63+34496_63+34695dupAATATATTTTATATATTTCATATATAAA ATGTATATATAAAATATATTTTATATATTTCATATATAAAATGTATATAT AAAATATATTTTATATATTTCATATATAAAATGTATATATAAAATATATT TTATATATTTCATATATAAAATGTATATATAAAATATATTTTATATATTT CATATATAAAATGTATATATAA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29895610	T T	TACATTTT others(193): Show TACATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTAT ATATGAAATATATAAAATATATTTTATATATACATTTTATATATGAAATA TATAAAATATATTTTATATATACATTTTATATATGAAATATATAAAATAT ATTTTATATATACATTTTATATATGAAATATATAAAATATATTTTATATA C	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19007.hp1 NA18986.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0204 a0002c0002t0002g0190 a0002c0002t0002g0204	2	232	0.0086	200	c.63+ others(217): Show c.63+34327_63+34328insGTATATAAAATATATTTTATATATTTCA TATATAAAATGTATATATAAAATATATTTTATATATTTCATATATAAAAT GTATATATAAAATATATTTTATATATTTCATATATAAAATGTATATATAA AATATATTTTATATATTTCATATATAAAATGTATATATAAAATATATTTT ATATATTTCATATATAAAATGT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar

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Search Results (Total: 10000 hits)