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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
STXBP3_chr1_108741674_108814523	108771505	G G	GATATATA others(14): Show GATATATATATCTATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18522.hp1 HG04184.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0265 a0002c0003t0001g0234 a0001c0002t0001g0265 a0002c0003t0001g0234	2	334	0.0060	21	c.439 others(38): Show c.439-1153_439-1152insTATCTATATATATAATATATA		STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771505	G G	GATATATA others(14): Show GATATATATCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	334	0.0030	21	c.439 others(38): Show c.439-1153_439-1152insTCTATATATATATAATATATA		STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771558	G G	GATATATA others(14): Show GATATATATCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	334	0.0030	21	c.439 others(38): Show c.439-1100_439-1099insTCTATATATATATAATATATA		STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5L_chr3_120903205_121429761	120984632	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02897.hp1 NA20805.hp1 HG02886.hp1 HG02897.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0005 a0004c0004t0005 a0001c0001t0005 a0004c0004t0005	a0001c0001t0005g0263 a0001c0001t0005g0280 a0004c0004t0005g0275 a0001c0001t0005g0263 a0001c0001t0005g0280 a0004c0004t0005g0275	3	290	0.0103	21	c.287 others(40): Show c.287+29597_287+29617dupTTTTTTTTTTTTTTTTTTTTT		STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121312446	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04184.hp1 HG02735.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0281 a0001c0001t0003g0252 a0001c0001t0001g0281 a0001c0001t0003g0252	2	290	0.0069	21	c.211 others(40): Show c.2111-6017_2111-5997dupTTTTTTTTTTTTTTTTTTTTT		STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP6_chr14_24804454_25055147	25002359	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTCTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0147 a0001c0001t0066g0147	1	242	0.0041	21	c.-32 others(40): Show c.-32-27510_-32-27509insAAAAGAAAAAAAAAAAAAAAA		STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5						chr14	TogoVar
STXBP6_chr14_24804454_25055147	25002359	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01192.hp1 others(1): Show HG01168.hp2 HG01169.hp1 HG01192.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0079 a0001c0001t0087 a0001c0001t0035 a0001c0001t0079 a0001c0001t0087	a0001c0001t0035g0158 a0001c0001t0035g0164 a0001c0001t0079g0159 others(1): Show a0001c0001t0035g0158 a0001c0001t0035g0164 a0001c0001t0079g0159 a0001c0001t0087g0157	4	242	0.0165	21	c.-32 others(40): Show c.-32-27510_-32-27509insAAAAAAAAAAAAAAAAAAAAA		STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5						chr14	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01175.hp1 HG01243.hp1 others(38): Show HG00673.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG01496.hp2 HG01943.hp1 HG01952.hp2 HG02135.hp1 HG02155.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02922.hp1 HG02976.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 NA18522.hp1 NA18612.hp2 NA18940.hp1 NA18944.hp2 NA18953.hp1 NA18959.hp2 NA18961.hp1 NA18967.hp2 NA18973.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19088.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0004 others(1): Show a0001c0002 a0001c0003 a0002c0004 a0003c0006	a0001c0002t0002 a0001c0003t0001 a0001c0003t0007 others(3): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0007 a0001c0003t0009 a0002c0004t0001 a0003c0006t0002	a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0055 others(38): Show a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0055 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0093 a0001c0002t0002g0128 a0001c0002t0002g0135 a0001c0003t0001g0164 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0266 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0275 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0283 a0001c0003t0001g0288 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0347 a0001c0003t0007g0002 a0001c0003t0009g0350 a0002c0004t0001g0328 a0003c0006t0002g0037	41	356	0.1152	21	c.308 others(38): Show c.308-3980_308-3979insTTTTTTTTTTTTTTTTTTTTT		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8						chr7	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAGAA others(14): Show CAAAAGAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0071 a0001c0010t0002g0071	1	356	0.0028	21	c.308 others(38): Show c.308-3980_308-3979insTTTTTTTTTTTTTTTTCTTTT		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8						chr7	TogoVar
STYXL1_chr7_75991342_76053000	76042390	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0305 a0002c0004t0001g0305	1	356	0.0028	21	c.-5+ others(36): Show c.-5+5251_-5+5271dupAAAAAAAAAAAAAAAAAAAAA		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
SUB1_chr5_32580557_32609079	32590762	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	446	0.0022	21	c.73- others(34): Show c.73-798_73-778dupTTTTTTTTTTTTTTTTTTTTT		SUB1	ENSG00000113387.12	transcript	ENST00000265073.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18968.hp2 HG02809.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0206 a0001c0001t0004g0086 a0001c0001t0001g0206 a0001c0001t0004g0086	2	280	0.0071	21	c.106 others(42): Show c.1063-21643_1063-21623dupTTTTTTTTTTTTTTTTTTTTT		SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10						chr3	TogoVar
SUFU_chr10_102498972_102638535	102637812	A A	ATTATACA others(14): Show ATTATACATGATCATATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0085 a0001c0001t0011g0085	1	268	0.0037	21	c.76 others(32): Show c.7657_*7658insTTATACATGATCATATAAAAT		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					4278		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637895	A A	ATTATACA others(14): Show ATTATACATGATCATATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG06807.hp1 HG03239.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0136 a0001c0001t0011g0085 a0001c0001t0001g0136 a0001c0001t0011g0085	2	268	0.0075	21	c.77 others(32): Show c.7740_*7741insTTATACATGATCATATAAAAT		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					4361		chr10	TogoVar
SUGT1_chr13_52647836_52705909	52659814	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0135 a0001c0001t0055g0135	1	310	0.0032	21	c.328 others(36): Show c.328+566_328+567insATATATATATATATTTTTTTT		SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SULF2_chr20_47652406_47790481	47662852	C C	CGCAGGGT others(14): Show CGCAGGGTGATGGAGGCAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG02280.hp1 others(2): Show HG01515.hp2 HG01517.hp1 HG02280.hp1 HG03834.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0002 a0001c0001t0001 a0001c0001t0012 a0001c0002t0002	a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0174 others(2): Show a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0174 a0001c0001t0012g0019 a0001c0002t0002g0226	5	364	0.0137	21	c.237 others(38): Show c.2370+197_2370+217dupTTTTTGCCTCCATCACCCTGC		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	17/20						chr20	TogoVar
SULF2_chr20_47652406_47790481	47731182	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0321 a0001c0001t0008g0321	1	364	0.0028	21	c.415 others(38): Show c.415+5520_415+5521insAAAAAAAAAAAAAAAAAAAAA		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20						chr20	TogoVar
SULT1A1_chr16_28600258_28615044	28614096	A A	AAGTCACG others(14): Show AAGTCACGCCCCCTGCACCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	432	0.0023	21	c.-41 others(32): Show c.-4171_-4170insGCAGGTGCAGGGGGCGTGACT		SULT1A1	ENSG00000196502.15	transcript	ENST00000314752.12	protein_coding					4053		chr16	TogoVar
SULT2A1_chr19_47865467_47891315	47869303	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0179 a0003c0004t0010g0179	1	432	0.0023	21	c.21 others(32): Show c.2151_*2152insAAAAAAAAAAAAAAAAAAAAA		SULT2A1	ENSG00000105398.4	transcript	ENST00000222002.4	protein_coding					1163		chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48555589	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0020 a0001c0006t0001g0020	1	376	0.0027	21	c.71+ others(36): Show c.71+3266_71+3267insCTCTCTCTCTCTCTCTCTCTC		SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	1/6						chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(14): Show CTTTTCTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG03453.hp1 HG02109.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0010 a0001c0006 a0001c0007 a0001c0010	a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001	a0001c0006t0001g0090 a0001c0007t0001g0200 a0001c0010t0001g0037 a0001c0006t0001g0090 a0001c0007t0001g0200 a0001c0010t0001g0037	3	376	0.0080	21	c.214 others(36): Show c.214+280_214+281insCTTTCTTTTTTTTTTTTTTTT		SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48602704	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	376	0.0027	21	c.32 others(32): Show c.3298_*3299insAAAAAAAAAAAAAATATATAT		SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding					3282		chr19	TogoVar
SULT6B1_chr2_37162820_37193670	37193597	A A	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	21	c.-49 others(32): Show c.-4978_-4958dupCTTCTTCTTCTTCTTCTTCTT		SULT6B1	ENSG00000138068.12	transcript	ENST00000535679.6	protein_coding					4928		chr2	TogoVar
SULT6B1_chr2_37162820_37193670	37193643	A A	AAGAAGAA others(14): Show AAGAAGAAGAAGAAGAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02922.hp2 HG03209.hp2 HG02886.hp2 HG02922.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0026 a0002c0002t0001g0061 a0002c0002t0001g0062	3	354	0.0085	21	c.-50 others(32): Show c.-5004_-5003insCCTTCTTCTTCTTCTTCTTCT		SULT6B1	ENSG00000138068.12	transcript	ENST00000535679.6	protein_coding					4974		chr2	TogoVar
SUN3_chr7_47982148_48034107	48010997	T T	TCTTCTCC others(14): Show TCTTCTCCTCTCTGTGTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03831.hp1 NA18959.hp1 others(11): Show HG00735.hp1 HG03831.hp1 NA18959.hp1 NA18961.hp2 NA18981.hp2 NA18986.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19075.hp1 NA19077.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0049 a0001c0001t0001g0217 others(8): Show a0001c0001t0001g0021 a0001c0001t0001g0049 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0269 a0001c0001t0001g0280	14	414	0.0338	21	c.289 others(38): Show c.289-1943_289-1923dupGAGAGACACAGAGAGGAGAAG		SUN3	ENSG00000164744.14	transcript	ENST00000297325.9	protein_coding	3/9						chr7	TogoVar
SUN5_chr20_32978775_33009433	33001519	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00642.hp1 others(24): Show HG00140.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01258.hp2 HG01261.hp2 HG02135.hp2 HG02145.hp2 HG02293.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp2 HG03688.hp2 HG03831.hp1 HG04204.hp2 HG06807.hp2 NA19006.hp2 NA19030.hp1 NA19077.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0065 others(20): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0204 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0050 a0002c0002t0001g0051	27	382	0.0707	21	c.212 others(36): Show c.212-242_212-241insAGAAAGAAAGAAAGAAAGAAA		SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12						chr20	TogoVar
SUPT20HL1_chrX_24355639_24372839	24364302	T T	TGCTGCTC others(14): Show TGCTGCTCCTGCTCCTGCTCTA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG04184.hp1 NA18969.hp1 HG04184.hp1 NA18969.hp1	a0029 a0036 a0029 a0036	a0029c0035 a0036c0047 a0029c0035 a0036c0047	a0029c0035t0004 a0036c0047t0025 a0029c0035t0004 a0036c0047t0025	a0029c0035t0004g0000 a0036c0047t0025g0000 a0029c0035t0004g0000 a0036c0047t0025g0000	2	316	0.0063	21	c.154 others(30): Show c.1548_1549insCCTGCTCCTGCTCTAGCTGCT	p.Ala others(34): Show p.Ala516_Ala517insProAlaProAlaLeuAlaAla	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding	1/1	3671/7201	1549/2664	517/887		INFO_REALIGN_3_PRIME	chrX	TogoVar
SUPT20HL2_chrX_24303210_24319069	24311782	C C	CAGGAGCA others(14): Show CAGGAGCAGGAGCAGGAGCAGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19003.hp1 NA19003.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0002 a0014c0014t0002	a0014c0014t0002g0000 a0014c0014t0002g0000	1	293	0.0034	21	c.151 others(30): Show c.1513_1533dupCCTGCTCCTGCTCCTGCTCCT	p.Pro others(34): Show p.Pro511_Ala512insProAlaProAlaProAlaPro	SUPT20HL2	ENSG00000223611.7	transcript	ENST00000486479.3	protein_coding	1/1	2287/5860	1533/2454	511/817			chrX	TogoVar
SUPT3H_chr6_44821726_45382934	44869492	C C	CTACAACT others(14): Show CTACAACTAATTTAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0099 a0001c0006t0017g0099	1	262	0.0038	21	c.913 others(40): Show c.913-39636_913-39635insTCTTCTTCTAAATTAGTTGTA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18972.hp2 NA19000.hp1 NA18953.hp2 NA18972.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0220 a0001c0001t0001g0251 a0001c0001t0001g0252	3	262	0.0115	21	c.912 others(38): Show c.912+3750_912+3770dupTTTTTTTTTTTTTTTTTTTTT		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAATAA others(14): Show CAAAATAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19240.hp1 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0022 a0001c0001t0003g0026	2	262	0.0076	21	c.912 others(38): Show c.912+3770_912+3771insTTTTTTTTTTTTTTTTATTTT		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAATAA others(14): Show CAAAATAAATAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0051	1	262	0.0038	21	c.912 others(38): Show c.912+3770_912+3771insTTTTTTTTTTTTATTTATTTT		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45120417	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01928.hp2 NA18948.hp2 others(2): Show HG01361.hp1 HG01928.hp2 NA18948.hp2 NA18978.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0177 a0001c0001t0004g0178 others(2): Show a0001c0001t0004g0174 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0182 a0001c0001t0004g0189	5	262	0.0191	21	c.102 others(40): Show c.102-14432_102-14412dupTTTTTTTTTTTTTTTTTTTTT		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45154087	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0160 a0001c0001t0011g0160	1	262	0.0038	21	c.102 others(40): Show c.102-48082_102-48081insGTTTTTTTTTTTTTTTTTTTT		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45158298	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0021 a0003c0005t0021	a0003c0005t0021g0260 a0003c0005t0021g0260	1	262	0.0038	21	c.102 others(40): Show c.102-52293_102-52292insAAAAAAAAAAAAATATATATA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45204250	A A	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02896.hp2 HG02897.hp2 others(5): Show HG01346.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03654.hp1 NA18942.hp2 NA19006.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 a0001c0001t0001 a0001c0001t0008 a0001c0004t0001	a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0202 others(5): Show a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0202 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0008g0068 a0001c0001t0008g0094 a0001c0004t0001g0072	8	262	0.0305	21	c.102 others(40): Show c.102-98265_102-98245dupCTTCTTCTTCTTCTTCTTCTT		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUPT6H_chr17_28657205_28707679	28661431	G G	GTTTCCTC others(14): Show GTTTCCTCTGTTTTCTCTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	236	0.0042	21	c.-94 others(30): Show c.-943_-942insTTTCCTCTGTTTTCTCTGTTT		SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding					773		chr17	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02129.hp1 HG02129.hp2 others(5): Show HG00741.hp1 HG02129.hp1 HG02129.hp2 HG02683.hp2 HG03130.hp2 HG03831.hp1 NA18993.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0015 a0001c0002t0001g0119 a0001c0002t0001g0120 others(4): Show a0001c0001t0001g0015 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124	8	236	0.0339	21	c.-32 others(38): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTT		SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr17	TogoVar
SURF1_chr9_133346758_133361487	133356366	G G	GCCCCGCA others(14): Show GCCCCGCACCCCGCACCCCGCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp2 HG02895.hp2 others(6): Show HG00735.hp2 HG01884.hp2 HG02895.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG04199.hp1 HG04199.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0004t0001g0064 a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0004t0001g0064	9	444	0.0203	21	c.54+ others(32): Show c.54+13_54+33dupTGCGGGGTGCGGGGTGCGGGG		SURF1	ENSG00000148290.10	transcript	ENST00000371974.8	protein_coding	1/8						chr9	TogoVar
SURF2_chr9_133351550_133366158	133356366	G G	GCCCCGCA others(14): Show GCCCCGCACCCCGCACCCCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01884.hp2 HG02895.hp1 others(6): Show HG00735.hp2 HG01884.hp2 HG02895.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG04199.hp1 HG04199.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0005 a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0005	9	448	0.0201	21	c.-22 others(30): Show c.-227_-226insCCCCGCACCCCGCACCCCGCA		SURF2	ENSG00000148291.10	transcript	ENST00000371964.5	protein_coding					183		chr9	TogoVar
SURF4_chr9_133356464_133381060	133373909	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	424	0.0024	21	c.48+ others(36): Show c.48+1992_48+2012dupTTTTTTTTTTTTTTTTTTTTT		SURF4	ENSG00000148248.14	transcript	ENST00000371989.8	protein_coding	1/5						chr9	TogoVar
SUSD1_chr9_112035783_112180297	112160746	C C	CAATCCTA others(14): Show CAATCCTAGAAAGGCCCAGGAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	338	0.0030	21	c.104 others(38): Show c.104-3154_104-3134dupTTCCTGGGCCTTTCTAGGATT		SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	1/16						chr9	TogoVar
SUSD1_chr9_112035783_112180297	112165913	G G	GAAAGAAA others(14): Show GAAAGAAAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03669.hp1 HG04115.hp1 others(4): Show HG02735.hp1 HG03669.hp1 HG04115.hp1 HG04204.hp1 NA18983.hp2 NA18989.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011	a0001c0001t0001 a0001c0002t0003 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0004t0002 a0001c0011t0003	a0001c0001t0001g0120 a0001c0001t0001g0181 a0001c0001t0001g0221 others(4): Show a0001c0001t0001g0120 a0001c0001t0001g0181 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0002t0003g0202 a0001c0004t0002g0227 a0001c0011t0003g0089	7	338	0.0207	21	c.104 others(38): Show c.104-8301_104-8300insTTTCTTTCTTTCTTTTTCTTT		SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	1/16						chr9	TogoVar
SUSD1_chr9_112035783_112180297	112165942	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	338	0.0030	21	c.104 others(38): Show c.104-8330_104-8329insTCTTTCTTTCTTTCTTTCTTT		SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	1/16						chr9	TogoVar
SUSD4_chr1_223215831_223369176	223268011	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	276	0.0036	21	c.535 others(36): Show c.535+490_535+491insTATATATATATATATATATAT		SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	4/8						chr1	TogoVar
SUSD5_chr3_33145043_33223810	33183930	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01981.hp1 HG02074.hp2 others(7): Show HG01069.hp2 HG01981.hp1 HG02074.hp2 HG02132.hp2 HG03098.hp1 HG03490.hp1 HG03710.hp2 HG04204.hp1 NA19064.hp1 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0011	a0001c0001t0001g0154 a0001c0001t0003g0374 a0003c0003t0001g0122 others(7): Show a0001c0001t0001g0154 a0001c0001t0003g0374 a0003c0003t0001g0122 a0003c0003t0003g0047 a0003c0003t0004g0088 a0003c0003t0004g0129 a0003c0003t0004g0226 a0003c0003t0004g0259 a0003c0003t0011g0015 a0003c0003t0011g0109	10	404	0.0248	21	c.410 others(38): Show c.410-8877_410-8857dupAAAAAAAAAAAAAAAAAAAAA		SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding	3/4						chr3	TogoVar
SV2B_chr15_91095257_91307565	91125781	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03540.hp1 NA19043.hp2 HG01256.hp1 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0004 a0001c0001t0001 a0001c0001t0002 a0001c0006t0004	a0001c0001t0001g0169 a0001c0001t0002g0170 a0001c0006t0004g0017 a0001c0001t0001g0169 a0001c0001t0002g0170 a0001c0006t0004g0017	3	214	0.0140	21	c.-39 others(42): Show c.-392+25437_-392+25438insAAAAAAAAAAAAAAAAAAAAA		SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2B_chr15_91095257_91307565	91134004	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0153 a0001c0001t0058g0153	1	214	0.0047	21	c.-39 others(42): Show c.-392+33653_-392+33654insTTTTTTTTTTTTTTTTTTTTT		SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2C_chr5_76078383_76338956	76243012	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0057 a0003c0004t0057	a0003c0004t0057g0071 a0003c0004t0057g0071	1	234	0.0043	21	c.913 others(40): Show c.913+33133_913+33153dupAAAAAAAAAAAAAAAAAAAAA		SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110375049	G G	GAGATTAA others(14): Show GAGATTAAAATAAGTATTATTC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18960.hp2 NA18951.hp2 NA18960.hp2	a0012 a0046 a0012 a0046	a0012c0009 a0046c0101 a0012c0009 a0046c0101	a0012c0009t0001 a0046c0101t0001 a0012c0009t0001 a0046c0101t0001	a0012c0009t0001g0219 a0046c0101t0001g0191 a0012c0009t0001g0219 a0046c0101t0001g0191	2	362	0.0055	21	c.106 others(40): Show c.10600+298_10600+318dupGAATAATACTTATTTTAATCT		SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	46/47						chr9	TogoVar

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