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
STX8_chr17_9245471_9580820	9516298	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp2 HG03041.hp2 others(3): Show HG01243.hp1 HG02922.hp2 HG03041.hp2 HG03453.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010	a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001	a0001c0002t0001g0007 a0001c0002t0001g0070 a0001c0003t0001g0050 others(3): Show a0001c0002t0001g0007 a0001c0002t0001g0070 a0001c0003t0001g0050 a0001c0005t0001g0182 a0001c0005t0001g0184 a0001c0010t0001g0092	6	188	0.0319	-24	c.324 others(43): Show c.324-11160_324-11137delATATATATATATATATATATATAT		STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7						chr17	TogoVar
STX8_chr17_9245471_9580820	9556772	TATATATA others(17): Show TATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 HG02647.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0042 a0001c0003t0002g0043 a0001c0003t0001g0042 a0001c0003t0002g0043	2	188	0.0106	-24	c.212 others(39): Show c.212+638_212+661delGTATATATATATATATATATATAT		STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7						chr17	TogoVar
STXBP1_chr9_127607277_127697699	127624049	AAATAATA others(17): Show AAATAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02155.hp1 HG02165.hp2 others(7): Show HG02135.hp2 HG02155.hp1 HG02165.hp2 NA18939.hp2 NA18947.hp2 NA18950.hp1 NA18971.hp2 NA18977.hp1 NA18992.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 others(7): Show a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0130	10	300	0.0333	-24	c.37+ others(41): Show c.37+11611_37+11634delATAATATATATATATATATATATA		STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
STXBP1_chr9_127607277_127697699	127624053	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18964.hp1 NA18995.hp1 NA18952.hp2 NA18964.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0081 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0081	3	300	0.0100	-24	c.37+ others(41): Show c.37+11638_37+11661delATATATATATATATATATATATAT		STXBP1	ENSG00000136854.25	transcript	ENST00000373299.5	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr9	TogoVar
STXBP4_chr17_54963765_55178632	54967034	GCGCGCGC others(17): Show GCGCGCGCGCACACACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0258 a0002c0003t0006g0258	1	378	0.0027	-24	c.-19 others(35): Show c.-1937_-1914delCGCGCGCGCACACACACACACACA		STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding					1730		chr17	TogoVar
STXBP5_chr6_147199417_147395473	147372406	CCTTTTTT others(17): Show CCTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(59): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp2 HG01109.hp2 HG01496.hp2 HG01934.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02165.hp1 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG04204.hp1 NA18747.hp2 NA18945.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA19006.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19070.hp2 NA19072.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0007 a0001c0011 others(4): Show a0001c0001 a0001c0007 a0001c0011 a0002c0002 a0002c0012 a0003c0005 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0023 a0001c0001t0024 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0007t0019 a0001c0011t0003 a0002c0002t0014 a0002c0012t0003 a0003c0005t0015 a0007c0009t0003	a0001c0001t0001g0001 a0001c0001t0001g0242 a0001c0001t0001g0270 others(59): Show a0001c0001t0001g0001 a0001c0001t0001g0242 a0001c0001t0001g0270 a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0202 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0332 a0001c0001t0003g0338 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0161 a0001c0001t0010g0312 a0001c0001t0010g0322 a0001c0001t0010g0324 a0001c0001t0010g0327 a0001c0001t0010g0333 a0001c0001t0011g0331 a0001c0001t0023g0018 a0001c0001t0024g0039 a0001c0001t0039g0058 a0001c0001t0040g0313 a0001c0001t0041g0141 a0001c0001t0042g0321 a0001c0001t0043g0037 a0001c0007t0019g0308 a0001c0007t0019g0309 a0001c0011t0003g0314 a0002c0002t0014g0020 a0002c0012t0003g0124 a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 a0003c0005t0015g0183 a0007c0009t0003g0319	62	350	0.1771	-24	c.308 others(43): Show c.3082-1324_3082-1301delCTTTTTTTTTTTTTTTTTTTTTTT		STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	25/27						chr6	TogoVar
STXBP6_chr14_24804454_25055147	24807402	GATTCCAG others(17): Show GATTCCAGATGAGGCTCAAGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0218 a0001c0001t0100g0218	1	242	0.0041	-24	c.52 others(35): Show c.5283_*5306delTCTCCCTTGAGCCTCATCTGGAAT		STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding					2051		chr14	TogoVar
STYK1_chr12_10613923_10679052	10630032	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp2 HG01123.hp2 others(22): Show HG01070.hp1 HG01074.hp2 HG01123.hp2 HG01891.hp1 HG01993.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp1 NA20129.hp2 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0004 a0002c0003t0005 a0002c0003t0001 a0002c0003t0004 a0002c0003t0005	a0002c0003t0001g0074 a0002c0003t0001g0250 a0002c0003t0004g0085 others(17): Show a0002c0003t0001g0074 a0002c0003t0001g0250 a0002c0003t0004g0085 a0002c0003t0005g0001 a0002c0003t0005g0006 a0002c0003t0005g0075 a0002c0003t0005g0077 a0002c0003t0005g0079 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0005g0082 a0002c0003t0005g0083 a0002c0003t0005g0084 a0002c0003t0005g0086 a0002c0003t0005g0087 a0002c0003t0005g0093 a0002c0003t0005g0280 a0002c0003t0005g0281 a0002c0003t0005g0306 a0002c0003t0005g0307	25	368	0.0679	-24	c.452 others(39): Show c.452-382_452-359delTCTCTCTCTCTCTCTCTCTCTCTC		STYK1	ENSG00000060140.9	transcript	ENST00000075503.8	protein_coding	5/10						chr12	TogoVar
STYXL1_chr7_75991342_76053000	76046274	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG01071.hp1 others(23): Show HG00673.hp1 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01515.hp2 HG01517.hp2 HG02148.hp1 HG02293.hp2 HG02602.hp2 HG02698.hp2 HG02897.hp1 HG04115.hp2 NA18945.hp2 NA18961.hp2 NA18966.hp1 NA18981.hp1 NA18989.hp1 NA18994.hp1 NA19003.hp1 NA19070.hp1 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0003c0006	a0001c0002t0002 a0001c0003t0001 a0001c0005t0002 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0005t0002 a0003c0006t0002	a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 others(23): Show a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0149 a0001c0002t0002g0152 a0001c0003t0001g0271 a0001c0005t0002g0083 a0001c0005t0002g0124 a0003c0006t0002g0037 a0003c0006t0002g0077 a0003c0006t0002g0078 a0003c0006t0002g0079	26	356	0.0730	-24	c.-5+ others(39): Show c.-5+1364_-5+1387delCACACACACACACACACACACACA		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046317	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02622.hp2 HG02922.hp1 others(5): Show HG02056.hp2 HG02622.hp2 HG02922.hp1 NA18977.hp2 NA18989.hp2 NA18998.hp2 NA19003.hp2 NA19080.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0007 a0001c0002 a0001c0003 a0004c0007	a0001c0002t0002 a0001c0003t0001 a0004c0007t0004 a0001c0002t0002 a0001c0003t0001 a0004c0007t0004	a0001c0002t0002g0058 a0001c0003t0001g0256 a0001c0003t0001g0257 others(5): Show a0001c0002t0002g0058 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0004c0007t0004g0025	8	356	0.0225	-24	c.-5+ others(39): Show c.-5+1321_-5+1344delGCACACACACACACACACACACAC		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046319	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0027 a0001c0002t0004g0027	1	356	0.0028	-24	c.-5+ others(39): Show c.-5+1319_-5+1342delGCGCACACACACACACACACACAC		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046321	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19240.hp1 HG01109.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0045 a0001c0003t0001g0245 a0001c0002t0002g0045 a0001c0003t0001g0245	2	356	0.0056	-24	c.-5+ others(39): Show c.-5+1317_-5+1340delGCGCGCACACACACACACACACAC		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046323	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03704.hp2 NA18982.hp2 HG02015.hp2 HG03704.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0003g0023 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0003g0023	3	356	0.0084	-24	c.-5+ others(39): Show c.-5+1315_-5+1338delGCGCGCGCACACACACACACACAC		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046325	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02257.hp2 NA18948.hp2 others(4): Show HG00673.hp2 HG02257.hp2 NA18948.hp2 NA18954.hp1 NA18959.hp1 NA18971.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0007 a0001c0001t0001 a0001c0003t0007	a0001c0001t0001g0168 a0001c0001t0001g0214 a0001c0001t0001g0215 others(4): Show a0001c0001t0001g0168 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0003t0007g0002	7	356	0.0197	-24	c.-5+ others(39): Show c.-5+1313_-5+1336delGCGCGCGCGCACACACACACACAC		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046327	TGTGTGTG others(17): Show TGTGTGTGTGTGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	356	0.0028	-24	c.-5+ others(39): Show c.-5+1311_-5+1334delGCGCGCGCGCGCACACACACACAC		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
STYXL2_chr1_167089075_167134165	167111493	TATATATA others(17): Show TATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02723.hp2 HG03516.hp2 others(5): Show HG01517.hp1 HG02723.hp2 HG03516.hp2 NA18946.hp1 NA18946.hp2 NA18966.hp2 NA19057.hp2 NA19082.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0018	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0018c0019	a0001c0001t0001 a0001c0001t0006 a0003c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0006 a0003c0003t0002 a0004c0004t0001 a0018c0019t0001	a0001c0001t0001g0047 a0001c0001t0001g0071 a0001c0001t0001g0129 others(5): Show a0001c0001t0001g0047 a0001c0001t0001g0071 a0001c0001t0001g0129 a0001c0001t0001g0215 a0001c0001t0006g0056 a0003c0003t0002g0216 a0004c0004t0001g0106 a0018c0019t0001g0072	8	362	0.0221	-24	c.111 others(41): Show c.111-2215_111-2192delTATATATATATATATATATACACA		STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
STYXL2_chr1_167089075_167134165	167120829	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02647.hp2 others(5): Show HG02258.hp2 HG02280.hp1 HG02647.hp2 HG02895.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0008 a0003c0003 a0007c0008	a0003c0003t0002 a0007c0008t0005 a0003c0003t0002 a0007c0008t0005	a0003c0003t0002g0026 a0003c0003t0002g0141 a0003c0003t0002g0147 others(4): Show a0003c0003t0002g0026 a0003c0003t0002g0141 a0003c0003t0002g0147 a0003c0003t0002g0148 a0003c0003t0002g0149 a0003c0003t0002g0202 a0007c0008t0005g0219	8	362	0.0221	-24	c.655 others(41): Show c.655+1397_655+1420delTATATATATATATATATATATATA		STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
SUCLA2_chr13_47937656_48006273	47993947	CTGCTTGA others(17): Show CTGCTTGAACCCAGGAGGCAGAGGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0156 a0001c0010t0001g0156	1	358	0.0028	-24	c.271 others(41): Show c.271+2872_271+2895delACCTCTGCCTCCTGGGTTCAAGCA		SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	2/10						chr13	TogoVar
SUFU_chr10_102498972_102638535	102503801	AGACCAAG others(17): Show AGACCAAGAGCCTTGGGACACTCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	268	0.0037	-24	c.-35 others(33): Show c.-351_-328delGACCAAGAGCCTTGGGACACTCCC		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					170		chr10	TogoVar
SUFU_chr10_102498972_102638535	102563608	GCTGCAGT others(17): Show GCTGCAGTGAGCCAGGATCATGCCA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18957.hp2 NA18981.hp2 HG02074.hp1 NA18957.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0114 a0001c0001t0004g0119 a0001c0001t0004g0120	3	268	0.0112	-24	c.454 others(43): Show c.454+13532_454+13555delGTGAGCCAGGATCATGCCACTGCA		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
SUFU_chr10_102498972_102638535	102568891	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG03239.hp1 HG01069.hp1 HG01071.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0136	3	268	0.0112	-24	c.454 others(43): Show c.454+18787_454+18810delAAAAAATATATATATATATATATA		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
SUFU_chr10_102498972_102638535	102568921	CACATATA others(17): Show CACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp2 HG02129.hp2 others(2): Show HG01192.hp2 HG01255.hp2 HG02129.hp2 NA18995.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 others(2): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0004g0121	5	268	0.0187	-24	c.454 others(43): Show c.454+18817_454+18840delCATATATATATATATATATATATA		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
SUFU_chr10_102498972_102638535	102568923	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00639.hp2 others(41): Show HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG01069.hp2 HG01358.hp2 HG01433.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02257.hp1 HG02615.hp2 HG02622.hp2 HG02735.hp2 HG02809.hp2 HG03017.hp2 HG03491.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04228.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18957.hp1 NA18961.hp2 NA18965.hp1 NA18975.hp1 NA18979.hp2 NA19000.hp2 NA19007.hp2 NA19054.hp1 NA19070.hp2 NA19077.hp2 NA19083.hp1 NA19086.hp1 NA19090.hp1 NA19091.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0026 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0026 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030	a0001c0001t0001g0071 a0001c0002t0002g0001 a0001c0002t0002g0002 others(41): Show a0001c0001t0001g0071 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0019 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0026 a0001c0002t0002g0030 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0066 a0001c0002t0002g0072 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0026g0036 a0001c0002t0028g0086 a0001c0002t0029g0037 a0001c0002t0030g0089	44	268	0.1642	-24	c.454 others(43): Show c.454+18834_454+18857delATATATATATATATATATATATAT		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
SUGP2_chr19_18985893_19038517	18998579	TGTGTGTG others(17): Show TGTGTGTGTATGCATGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0158 a0001c0014t0001g0158	1	302	0.0033	-24	c.299 others(43): Show c.2991+3010_2991+3033delGCACACACACATGCATACACACAC		SUGP2	ENSG00000064607.17	transcript	ENST00000452918.7	protein_coding	8/10						chr19	TogoVar
SULF1_chr8_69487847_69665912	69493448	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0277 a0001c0001t0004g0277	1	296	0.0034	-24	c.-39 others(41): Show c.-391+342_-391+365delACACACACACACACACACACACAC		SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr8	TogoVar
SULF1_chr8_69487847_69665912	69617373	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00639.hp1 others(35): Show HG00140.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02148.hp1 HG02615.hp1 HG02615.hp2 HG02970.hp1 HG03486.hp1 HG03490.hp2 HG03704.hp1 HG03942.hp1 NA18959.hp1 NA18962.hp2 NA18981.hp1 NA18984.hp1 NA19004.hp2 NA19010.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19081.hp2 NA19083.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0013 a0001c0001 a0002c0002 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0002c0002t0007 a0005c0013t0003	a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0037 others(35): Show a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0075 a0001c0001t0001g0184 a0001c0001t0002g0239 a0001c0001t0002g0246 a0001c0001t0002g0263 a0001c0001t0003g0010 a0001c0001t0003g0055 a0001c0001t0003g0067 a0001c0001t0003g0118 a0001c0001t0003g0180 a0001c0001t0004g0130 a0001c0001t0004g0140 a0001c0001t0004g0175 a0001c0001t0004g0192 a0001c0001t0005g0211 a0001c0001t0005g0244 a0001c0001t0006g0160 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0007g0106 a0001c0001t0011g0191 a0001c0001t0014g0060 a0001c0001t0020g0040 a0001c0001t0029g0122 a0001c0001t0030g0103 a0001c0001t0035g0275 a0001c0001t0036g0138 a0002c0002t0007g0296 a0005c0013t0003g0057	38	296	0.1284	-24	c.137 others(43): Show c.1378-3624_1378-3601delATATATATATATATATATATATAT		SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	13/22					INFO_REALIGN_3_PRIME	chr8	TogoVar
SULF2_chr20_47652406_47790481	47737344	GTATTAAT others(17): Show GTATTAATATACATTGTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00544.hp2 others(167): Show HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01167.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01975.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(2): Show a0001 a0004 a0007 a0009 a0010	a0001c0001 a0001c0004 a0001c0015 others(6): Show a0001c0001 a0001c0004 a0001c0015 a0001c0017 a0001c0019 a0004c0010 a0007c0014 a0009c0011 a0010c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0004t0001 a0001c0004t0016 a0001c0015t0001 a0001c0017t0012 a0001c0019t0002 a0004c0010t0004 a0007c0014t0001 a0009c0011t0001 a0010c0018t0002	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0044 others(167): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0003g0307 a0001c0001t0003g0312 a0001c0001t0003g0320 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0337 a0001c0001t0003g0344 a0001c0001t0003g0346 a0001c0001t0003g0348 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0359 a0001c0001t0004g0050 a0001c0001t0004g0115 a0001c0001t0004g0122 a0001c0001t0004g0143 a0001c0001t0004g0157 a0001c0001t0004g0169 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0188 a0001c0001t0005g0005 a0001c0001t0005g0007 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0006g0220 a0001c0001t0006g0223 a0001c0001t0006g0228 a0001c0001t0006g0236 a0001c0001t0006g0284 a0001c0001t0007g0121 a0001c0001t0010g0056 a0001c0001t0010g0118 a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0001t0011g0003 a0001c0001t0012g0017 a0001c0001t0012g0019 a0001c0001t0014g0042 a0001c0001t0014g0048 a0001c0001t0014g0110 a0001c0001t0016g0267 a0001c0001t0018g0263 a0001c0001t0023g0055 a0001c0001t0025g0201 a0001c0001t0027g0227 a0001c0004t0001g0047 a0001c0004t0001g0054 a0001c0004t0016g0291 a0001c0015t0001g0043 a0001c0017t0012g0013 a0001c0019t0002g0253 a0004c0010t0004g0146 a0007c0014t0001g0145 a0009c0011t0001g0111 a0010c0018t0002g0266	170	364	0.4670	-24	c.176 others(39): Show c.176-426_176-403delAAAACAAAACAATGTATATTAATA		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULF2_chr20_47652406_47790481	47745390	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0009 a0001c0002t0005g0009	1	364	0.0028	-24	c.176 others(41): Show c.176-8472_176-8449delATATTTTTTTTTTTTTTTTTTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULF2_chr20_47652406_47790481	47745392	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02074.hp1 HG02132.hp1 others(2): Show HG00597.hp2 HG02074.hp1 HG02132.hp1 HG02976.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0053 a0001c0001t0001g0142 a0001c0001t0001g0148 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0002g0279 a0001c0002t0004g0084	5	364	0.0137	-24	c.176 others(41): Show c.176-8474_176-8451delATATATTTTTTTTTTTTTTTTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULF2_chr20_47652406_47790481	47745394	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02165.hp1 NA20300.hp2 HG00597.hp1 HG02165.hp1 NA20300.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0018 a0001c0001 a0001c0002 a0010c0018	a0001c0001t0002 a0001c0002t0001 a0010c0018t0002 a0001c0001t0002 a0001c0002t0001 a0010c0018t0002	a0001c0001t0002g0216 a0001c0002t0001g0085 a0010c0018t0002g0266 a0001c0001t0002g0216 a0001c0002t0001g0085 a0010c0018t0002g0266	3	364	0.0082	-24	c.176 others(41): Show c.176-8476_176-8453delATATATATTTTTTTTTTTTTTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULF2_chr20_47652406_47790481	47745396	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0302 a0001c0001t0003g0302	1	364	0.0028	-24	c.176 others(41): Show c.176-8478_176-8455delATATATATATTTTTTTTTTTTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULF2_chr20_47652406_47790481	47745404	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0034 a0001c0002t0004g0034	1	364	0.0028	-24	c.176 others(41): Show c.176-8486_176-8463delATATATATATATATATATTTTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULF2_chr20_47652406_47790481	47745406	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	364	0.0028	-24	c.176 others(41): Show c.176-8488_176-8465delATATATATATATATATATATTTTT		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20						chr20	TogoVar
SULF2_chr20_47652406_47790481	47783331	GGGTGATA others(17): Show GGGTGATATTCTGCCTGGTTAACCC	G G	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0217 a0001c0028t0002g0217	1	364	0.0028	-24	c.-10 others(43): Show c.-101+1988_-101+2011delGGGTTAACCAGGCAGAATATCACC		SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	1/20						chr20	TogoVar
SULT1B1_chr4_69716167_69765620	69726033	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 NA18971.hp1 NA18979.hp2 others(4): Show HG02976.hp2 NA18971.hp1 NA18979.hp2 NA19001.hp1 NA19012.hp1 NA19070.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0139 a0001c0001t0022 a0001c0001t0139	a0001c0001t0022g0006 a0001c0001t0139g0279 a0001c0001t0022g0006 a0001c0001t0139g0279	7	408	0.0172	-24	c.10 others(35): Show c.1031_*1054delATATATATATATATATATATATAT		SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding	8/8				1031		chr4	TogoVar
SULT1C3_chr2_108234968_108265886	108259599	AACTACTG others(17): Show AACTACTGATATTCATGTCTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0107 a0004c0005t0001g0107	1	376	0.0027	-24	c.802 others(39): Show c.802+454_802+477delACTACTGATATTCATGTCTGTCTC		SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding	7/7						chr2	TogoVar
SULT6B1_chr2_37162820_37193670	37173805	TCCTTTGC others(17): Show TCCTTTGCCTGGACTATTGCAGTGC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	354	0.0028	-24	c.624 others(41): Show c.624+1303_624+1326delGCACTGCAATAGTCCAGGCAAAGG		SULT6B1	ENSG00000138068.12	transcript	ENST00000535679.6	protein_coding	5/6						chr2	TogoVar
SUMO2_chr17_75160586_75187959	75162278	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 NA18986.hp1 HG03704.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0330 a0001c0001t0002g0250 a0001c0001t0002g0330	2	398	0.0050	-24	c.60 others(35): Show c.6037_*6060delATATATATATATATATATATATAT		SUMO2	ENSG00000188612.12	transcript	ENST00000420826.7	protein_coding					3307		chr17	TogoVar
SUMO3_chr21_44800617_44823062	44811001	TGCACACA others(17): Show TGCACACACCCACATATGCACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00735.hp2 others(11): Show HG00099.hp1 HG00280.hp2 HG00735.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01981.hp2 HG02602.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0068 a0001c0001t0002g0004 a0001c0001t0002g0068	14	406	0.0345	-24	c.151 others(41): Show c.151-1907_151-1884delGTGTGTGCATATGTGGGTGTGTGC		SUMO3	ENSG00000184900.16	transcript	ENST00000332859.11	protein_coding	2/3						chr21	TogoVar
SUMO4_chr6_149395262_149406278	149403247	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	418	0.0048	-24	c.25 others(35): Show c.2569_*2592delATATATATATATATATATATATAT		SUMO4	ENSG00000177688.7	transcript	ENST00000326669.6	protein_coding					1970		chr6	TogoVar
SUMO4_chr6_149395262_149406278	149403307	TATATATA others(17): Show TATATATACACACACATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	418	0.0024	-24	c.26 others(35): Show c.2629_*2652delATATATACACACACATATATATAC		SUMO4	ENSG00000177688.7	transcript	ENST00000326669.6	protein_coding					2030		chr6	TogoVar
SUN3_chr7_47982148_48034107	47995155	GGTGGTGG others(17): Show GGTGGTGGTGGTGGTGACAGTGATA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	414	0.0024	-24	c.694 others(39): Show c.694-697_694-674delTATCACTGTCACCACCACCACCAC		SUN3	ENSG00000164744.14	transcript	ENST00000297325.9	protein_coding	7/9						chr7	TogoVar
SUPT20HL1_chrX_24355639_24372839	24360492	TACACACA others(17): Show TACACACATACACACACACTGACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp2 others(52): Show HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00642.hp1 HG00733.hp1 HG01928.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02083.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02886.hp1 HG03239.hp1 HG03491.hp2 HG03654.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18968.hp2 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18985.hp1 NA18987.hp1 NA18991.hp2 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19010.hp2 NA19054.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp1 homoSapiens_chm13v2.hp1	a0005 a0008 a0010 others(9): Show a0005 a0008 a0010 a0013 a0014 a0018 a0021 a0023 a0026 a0030 a0032 a0037	a0005c0005 a0008c0007 a0010c0008 others(9): Show a0005c0005 a0008c0007 a0010c0008 a0013c0017 a0014c0016 a0018c0022 a0021c0020 a0023c0032 a0026c0029 a0030c0044 a0032c0043 a0037c0039	a0005c0005t0002 a0005c0005t0014 a0008c0007t0002 others(13): Show a0005c0005t0002 a0005c0005t0014 a0008c0007t0002 a0008c0007t0021 a0008c0007t0022 a0010c0008t0002 a0010c0008t0008 a0013c0017t0002 a0014c0016t0002 a0018c0022t0002 a0021c0020t0002 a0023c0032t0002 a0026c0029t0002 a0030c0044t0002 a0032c0043t0002 a0037c0039t0002	a0005c0005t0002g0000 a0005c0005t0014g0000 a0008c0007t0002g0000 others(13): Show a0005c0005t0002g0000 a0005c0005t0014g0000 a0008c0007t0002g0000 a0008c0007t0021g0000 a0008c0007t0022g0000 a0010c0008t0002g0000 a0010c0008t0008g0000 a0013c0017t0002g0000 a0014c0016t0002g0000 a0018c0022t0002g0000 a0021c0020t0002g0000 a0023c0032t0002g0000 a0026c0029t0002g0000 a0030c0044t0002g0000 a0032c0043t0002g0000 a0037c0039t0002g0000	55	316	0.1741	-24	c.-22 others(35): Show c.-2268_-2245delACACACATACACACACACTGACAC		SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding					146		chrX	TogoVar
SUPT20HL1_chrX_24355639_24372839	24364312	CCTGCTCC others(17): Show CCTGCTCCTGCTCTAGCTGCTGCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00673.hp1 HG00741.hp2 HG01346.hp2 others(9): Show HG00673.hp1 HG00741.hp2 HG01346.hp2 HG01891.hp1 HG01981.hp2 HG01993.hp2 HG02165.hp2 HG03195.hp1 NA18940.hp1 NA18960.hp1 NA18980.hp2 NA19065.hp1	a0007 a0007	a0007c0010 a0007c0019 a0007c0021 a0007c0010 a0007c0019 a0007c0021	a0007c0010t0003 a0007c0010t0026 a0007c0019t0001 others(1): Show a0007c0010t0003 a0007c0010t0026 a0007c0019t0001 a0007c0021t0005	a0007c0010t0003g0000 a0007c0010t0026g0000 a0007c0019t0001g0000 others(1): Show a0007c0010t0003g0000 a0007c0010t0026g0000 a0007c0019t0001g0000 a0007c0021t0005g0000	12	316	0.0380	-24	c.161 others(33): Show c.1613_1636delTAGCTGCTGCTGCTGCTCCTGCTC	p.Leu others(13): Show p.Leu538_Ala545del	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding	1/1	3735/7201	1613/2664	538/887		INFO_REALIGN_3_PRIME	chrX	TogoVar
SUPT3H_chr6_44821726_45382934	44956479	AAAAATAA others(17): Show AAAAATAAAAAAAAAAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp2 others(25): Show HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01928.hp2 HG02074.hp2 HG02257.hp1 HG02258.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03209.hp1 HG03516.hp1 HG03516.hp2 HG04204.hp2 NA18948.hp2 NA18978.hp1 NA19004.hp1 NA19090.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015	a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 others(25): Show a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0189 a0001c0001t0007g0052 a0001c0001t0007g0172 a0001c0001t0007g0173 a0001c0001t0007g0188 a0001c0001t0007g0190 a0001c0001t0010g0191 a0001c0001t0014g0261 a0001c0001t0014g0262 a0001c0001t0015g0001	28	262	0.1069	-24	c.581 others(41): Show c.581-1896_581-1873delATTTTTATTTTTTTTTTTTATTTT		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	7/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45071664	AGAGTCCT others(17): Show AGAGTCCTACTGAGAACATTGATCT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02004.hp2 HG02055.hp2 others(9): Show HG01934.hp2 HG02004.hp2 HG02055.hp2 HG02572.hp2 HG02723.hp2 HG02886.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 others(9): Show a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0003g0050	12	262	0.0458	-24	c.186 others(43): Show c.186+34234_186+34257delAGATCAATGTTCTCAGTAGGACTC		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	3/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45212481	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp1 HG02717.hp2 HG02976.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0022 a0003c0005t0021 a0001c0001t0022 a0003c0005t0021	a0001c0001t0022g0259 a0003c0005t0021g0260 a0001c0001t0022g0259 a0003c0005t0021g0260	2	262	0.0076	-24	c.102 others(45): Show c.102-106499_102-106476delCACACACACACACACACACACACA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45288575	ATATATAT others(17): Show ATATATATGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0160 a0001c0001t0011g0160	1	262	0.0038	-24	c.101 others(43): Show c.101+76602_101+76625delCACATATATATATATACATATATA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUPV3L1_chr10_69175234_69214093	69175560	TTGTAAAA others(17): Show TTGTAAAATGGACCAATCAGTGCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01257.hp1 others(24): Show HG00621.hp2 HG00673.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01943.hp1 HG02129.hp2 HG02293.hp1 HG02486.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02970.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18965.hp2 NA18969.hp1 NA18995.hp1 NA18997.hp1 NA19057.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(22): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0002g0030	27	354	0.0763	-24	c.-47 others(35): Show c.-4731_-4708delTGTAAAATGGACCAATCAGTGCTC		SUPV3L1	ENSG00000156502.14	transcript	ENST00000359655.9	protein_coding					4673		chr10	TogoVar
SUSD1_chr9_112035783_112180297	112172461	AATCCTCT others(17): Show AATCCTCTCCAAGGATCTGTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	338	0.0030	-24	c.103 others(41): Show c.103+2648_103+2671delGAAAGACAGATCCTTGGAGAGGAT		SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	1/16						chr9	TogoVar

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Search Results (Total: 10000 hits)