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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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
SEMA3E_chr7_83358238_83654139	83507424	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03516.hp1 HG01081.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0052 a0001c0001t0051 a0001c0001t0052	a0001c0001t0051g0046 a0001c0001t0052g0050 a0001c0001t0051g0046 a0001c0001t0052g0050	2	226	0.0089	-22	c.116 others(41): Show c.116-17172_116-17151delCACACACACACACACACACACA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83593284	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp2 HG03041.hp2 others(4): Show HG02451.hp1 HG02976.hp2 HG03041.hp2 HG06807.hp2 NA18522.hp1 NA19060.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0004	a0001c0001t0029 a0001c0001t0078 a0001c0003t0002 others(2): Show a0001c0001t0029 a0001c0001t0078 a0001c0003t0002 a0001c0006t0082 a0002c0004t0018	a0001c0001t0029g0172 a0001c0001t0078g0170 a0001c0003t0002g0096 others(4): Show a0001c0001t0029g0172 a0001c0001t0078g0170 a0001c0003t0002g0096 a0001c0006t0082g0167 a0002c0004t0018g0168 a0002c0004t0018g0169 a0002c0004t0018g0171	7	226	0.0310	-22	c.115 others(41): Show c.115+55122_115+55143delCACACACACACACACACACACA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89485793	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	370	0.0027	-22	c.-31 others(43): Show c.-310+12104_-310+12125delCTTTTTTTTTTTTTTTTTTTTT	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9131637	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp2 others(17): Show HG00140.hp1 HG00280.hp2 HG00642.hp2 HG01255.hp1 HG01257.hp2 HG01515.hp2 HG02040.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG03195.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2 NA18960.hp1 NA18961.hp1 NA18970.hp2 NA18989.hp2 NA19240.hp2 NA20129.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0004c0019 a0005c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0022 a0001c0002t0040 a0001c0002t0047 a0001c0003t0019 a0001c0005t0001 a0001c0005t0007 a0001c0007t0003 a0001c0008t0004 a0001c0009t0001 a0001c0010t0076 a0004c0019t0059 a0005c0012t0029	a0001c0001t0001g0042 a0001c0002t0001g0071 a0001c0002t0004g0026 others(17): Show a0001c0001t0001g0042 a0001c0002t0001g0071 a0001c0002t0004g0026 a0001c0002t0004g0034 a0001c0002t0009g0002 a0001c0002t0009g0003 a0001c0002t0022g0073 a0001c0002t0040g0058 a0001c0002t0047g0053 a0001c0003t0019g0104 a0001c0005t0001g0005 a0001c0005t0001g0052 a0001c0005t0001g0054 a0001c0005t0007g0086 a0001c0007t0003g0063 a0001c0008t0004g0066 a0001c0009t0001g0045 a0001c0010t0076g0125 a0004c0019t0059g0089 a0005c0012t0029g0055	20	134	0.1493	-22	c.159 others(41): Show c.1599+4845_1599+4866delGTTTTTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	123030622	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01884.hp2 HG03209.hp1 others(1): Show HG01361.hp1 HG01884.hp2 HG03209.hp1 HG06807.hp2	a0004 a0006 a0021 a0004 a0006 a0021	a0004c0006 a0006c0009 a0021c0023 a0004c0006 a0006c0009 a0021c0023	a0004c0006t0001 a0006c0009t0003 a0021c0023t0002 a0004c0006t0001 a0006c0009t0003 a0021c0023t0002	a0004c0006t0001g0103 a0004c0006t0001g0104 a0006c0009t0003g0023 others(1): Show a0004c0006t0001g0103 a0004c0006t0001g0104 a0006c0009t0003g0023 a0021c0023t0002g0022	4	290	0.0138	-22	c.-32 others(33): Show c.-3219_-3198delGAGAGAGAGAGAGAGAGAGAGA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding		2860		chr3	TogoVar
SENP1_chr12_48037897_48111079	48056526	CATATATA others(15): Show CATATATAAATATATTATTTAAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01192.hp1 HG01346.hp2 others(11): Show HG01069.hp2 HG01192.hp1 HG01346.hp2 HG02055.hp1 HG02622.hp1 HG02622.hp2 HG02895.hp2 HG03041.hp2 HG03098.hp1 HG03453.hp2 HG06807.hp2 NA18906.hp2 NA19060.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0025 a0001c0003t0008	a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0194 others(10): Show a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0194 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0264 a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0005g0233 a0001c0001t0006g0281 a0001c0001t0006g0288 a0001c0001t0025g0237 a0001c0003t0008g0293	14	394	0.0355	-22	c.140 others(41): Show c.1407+7162_1407+7183delATTAAATAATATATTTATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48056555	CATATATA others(15): Show CATATATAAATATATTATTTAAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0302 a0001c0001t0010g0302	1	394	0.0025	-22	c.140 others(41): Show c.1407+7133_1407+7154delATTAAATAATATATTTATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48056584	CATATATA others(15): Show CATATATAAATATATTATTTAAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0293 a0001c0003t0008g0293	1	394	0.0025	-22	c.140 others(41): Show c.1407+7104_1407+7125delATTAAATAATATATTTATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48056613	CATATATA others(15): Show CATATATAAATATATTATTTAAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA18947.hp1 others(9): Show HG02895.hp1 HG02897.hp2 NA18947.hp1 NA18952.hp2 NA18962.hp1 NA18964.hp1 NA18984.hp2 NA18985.hp1 NA18999.hp2 NA19057.hp1 NA19072.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0005 a0001c0001t0007 a0003c0007t0007 a0001c0001t0005 a0001c0001t0007 a0003c0007t0007	a0001c0001t0005g0225 a0001c0001t0005g0256 a0001c0001t0007g0199 others(9): Show a0001c0001t0005g0225 a0001c0001t0005g0256 a0001c0001t0007g0199 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0247 a0001c0001t0007g0260 a0001c0001t0007g0261 a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0007g0267 a0003c0007t0007g0246	12	394	0.0305	-22	c.140 others(41): Show c.1407+7075_1407+7096delATTAAATAATATATTTATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185584452	CATATATA others(15): Show CATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01070.hp2 HG01081.hp1 others(29): Show HG00099.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp2 HG01993.hp2 HG02109.hp1 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp2 NA18947.hp2 NA18964.hp2 NA19068.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0025 a0001c0001t0036 others(23): Show a0001c0001t0024 a0001c0001t0025 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0054 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0174 a0001c0001t0188 a0001c0001t0189 a0001c0001t0191 a0001c0001t0201 a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 a0001c0001t0205 a0001c0001t0206 a0001c0001t0212 a0001c0001t0219 a0001c0001t0220	a0001c0001t0024g0151 a0001c0001t0024g0159 a0001c0001t0024g0168 others(29): Show a0001c0001t0024g0151 a0001c0001t0024g0159 a0001c0001t0024g0168 a0001c0001t0025g0003 a0001c0001t0025g0165 a0001c0001t0025g0169 a0001c0001t0036g0160 a0001c0001t0036g0187 a0001c0001t0038g0003 a0001c0001t0038g0167 a0001c0001t0039g0192 a0001c0001t0040g0046 a0001c0001t0054g0173 a0001c0001t0156g0152 a0001c0001t0157g0149 a0001c0001t0158g0164 a0001c0001t0159g0162 a0001c0001t0160g0189 a0001c0001t0161g0190 a0001c0001t0174g0166 a0001c0001t0188g0161 a0001c0001t0189g0172 a0001c0001t0191g0198 a0001c0001t0201g0047 a0001c0001t0202g0186 a0001c0001t0203g0157 a0001c0001t0204g0163 a0001c0001t0205g0188 a0001c0001t0206g0200 a0001c0001t0212g0176 a0001c0001t0219g0196 a0001c0001t0220g0178	32	360	0.0889	-22	c.-19 others(33): Show c.-1961_-1940delATATATATATATATATATATAT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding		1842		chr3	TogoVar
SENP3_chr17_7556919_7576969	7571837	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0002 a0001c0001t0120g0002	1	446	0.0022	-22	c.40 others(31): Show c.405_*426delTATATATATATATATATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	405	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571888	TATATATA others(15): Show TATATATATATATATATATATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0016 a0001c0001t0124g0016	1	446	0.0022	-22	c.40 others(31): Show c.407_*428delTATATATATATATATATATAAA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	407	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571890	TATATATA others(15): Show TATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0154 a0001c0001t0154	a0001c0001t0154g0013 a0001c0001t0154g0013	1	446	0.0022	-22	c.41 others(31): Show c.415_*436delTATATATATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	415	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP6_chr6_75596880_75723281	75638578	GTGTGTGT others(15): Show GTGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19030.hp2 NA18955.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0208 a0001c0001t0003g0053 a0001c0001t0001g0208 a0001c0001t0003g0053	2	362	0.0055	-22	c.459 others(39): Show c.459-2104_459-2083delGTGTGTGTGTGTATATATATAT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638580	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01074.hp1 others(24): Show HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01192.hp2 HG01243.hp1 HG01346.hp2 HG01515.hp2 HG01975.hp1 HG02132.hp1 HG03017.hp1 HG03492.hp2 NA18939.hp2 NA18944.hp1 NA18951.hp1 NA18970.hp1 NA18981.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19060.hp2 NA19062.hp1 NA19086.hp1 NA20805.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0001 a0001c0001t0008 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0023 a0011c0015t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(24): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0008g0228 a0001c0001t0023g0142 a0011c0015t0001g0287	27	362	0.0746	-22	c.459 others(39): Show c.459-2102_459-2081delGTGTGTGTGTATATATATATAT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638582	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	362	0.0028	-22	c.459 others(39): Show c.459-2100_459-2079delGTGTGTGTATATATATATATAT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638608	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	362	0.0028	-22	c.459 others(39): Show c.459-2074_459-2053delATATATATATATATTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75666161	TATATATA others(15): Show TATATATATAAAACGTATATATG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01074.hp2 others(23): Show HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01516.hp1 HG01517.hp1 HG02056.hp1 HG02132.hp2 HG02145.hp2 HG02451.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG03831.hp1 HG04115.hp1 NA18940.hp1 NA18941.hp2 NA18949.hp2 NA18962.hp2 NA19087.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0019 a0002c0003t0003 a0002c0003t0019	a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 others(23): Show a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0037 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0003t0003g0041 a0002c0003t0003g0042 a0002c0003t0003g0043 a0002c0003t0003g0044 a0002c0003t0003g0045 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0003g0050 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0019g0040	26	362	0.0718	-22	c.995 others(37): Show c.995-518_995-497delAACGTATATATGATATATATAA	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SEPTIN10_chr2_109537799_109618966	109561971	TCAAGGCC others(15): Show TCAAGGCCAGGAATTCCTGACCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00673.hp2 others(65): Show HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG03017.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG03831.hp2 NA18940.hp2 NA18947.hp1 NA18949.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18982.hp2 NA18984.hp2 NA18991.hp2 NA18995.hp1 NA19005.hp1 NA19009.hp2 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19076.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(61): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073	68	404	0.1683	-22	c.102 others(41): Show c.1028+2373_1028+2394delGGGTCAGGAATTCCTGGCCTTG	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	8/10			chr2	TogoVar
SEPTIN11_chr4_76944752_77043615	76965969	ACTTTCTG others(15): Show ACTTTCTGATGGACAACTGCAAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	370	0.0027	-22	c.27+ others(39): Show c.27+16045_27+16066delTGATGGACAACTGCAAGCTTTC	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN14_chr7_55788540_55867752	55805647	AATGGAAA others(15): Show AATGGAAATTTCCATATCATAAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	390	0.0026	-22	c.987 others(37): Show c.987-279_987-258delCTTATGATATGGAAATTTCCAT	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	8/9			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55846071	ATATATAT others(15): Show ATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0039 a0006c0013t0039	a0006c0013t0039g0008 a0006c0013t0039g0008	1	390	0.0026	-22	c.175 others(37): Show c.175+424_175+445delCATATATATATATATATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	3/9			chr7	TogoVar
SEPTIN5_chr22_19709503_19728319	19724457	AGTCCTGA others(15): Show AGTCCTGAGGAGAGAACCGGTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	384	0.0026	-22	c.19 others(33): Show c.1974_*1995delGTCCTGAGGAGAGAACCGGTGC	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		1139		chr22	TogoVar
SEPTIN8_chr5_132745819_132782239	132770002	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	326	0.0031	-22	c.31- others(37): Show c.31-4495_31-4474delGTATATATATATATATATATAT	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SEPTIN9_chr17_77276499_77505593	77300684	ACGCCCCC others(15): Show ACGCCCCCACCCCAGGCTCAAAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02559.hp2 others(9): Show HG01884.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0002c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0049 a0001c0005t0046 a0002c0002t0004 a0002c0002t0026 a0002c0002t0041 a0002c0002t0044 a0002c0002t0045 a0002c0004t0022	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0006g0128 others(9): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0006g0128 a0001c0001t0007g0039 a0001c0001t0049g0035 a0001c0005t0046g0038 a0002c0002t0004g0036 a0002c0002t0026g0057 a0002c0002t0041g0041 a0002c0002t0044g0037 a0002c0002t0045g0042 a0002c0004t0022g0040	12	150	0.0800	-22	c.20- others(37): Show c.20-6426_20-6405delCCCCAGGCTCAAACCGCCCCCA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77384842	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0045 a0001c0001t0033g0045	1	150	0.0067	-22	c.77- others(39): Show c.77-17192_77-17171delACACACACACACACACACACAC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77452268	TTTTCATG others(15): Show TTTTCATGCTGGGAGAACCCCAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03017.hp1 HG04204.hp2 HG02451.hp1 HG03017.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0028 a0001c0001t0005 a0001c0001t0006 a0001c0001t0028	a0001c0001t0005g0006 a0001c0001t0006g0066 a0001c0001t0028g0134 a0001c0001t0005g0006 a0001c0001t0006g0066 a0001c0001t0028g0134	3	150	0.0200	-22	c.722 others(41): Show c.722-29875_722-29854delTTTCATGCTGGGAGAACCCCAG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	3/11			chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77466054	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0040 a0002c0004t0022g0040	1	150	0.0067	-22	c.722 others(41): Show c.722-16058_722-16037delACACACACACACACACACACAC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77466086	ACACACAC others(15): Show ACACACACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18973.hp1 NA18979.hp2 others(1): Show HG02056.hp1 NA18973.hp1 NA18979.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0038 a0001c0001t0001 a0001c0001t0034 a0001c0001t0038	a0001c0001t0001g0064 a0001c0001t0001g0098 a0001c0001t0034g0043 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0098 a0001c0001t0034g0043 a0001c0001t0038g0118	4	150	0.0267	-22	c.722 others(41): Show c.722-16057_722-16036delCACACACACACACACACACACG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	3/11			chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77479704	TGGGGGCG others(15): Show TGGGGGCGAGAAAGGAGAGTTCA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02809.hp2 HG02818.hp2 others(6): Show HG02056.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG03017.hp1 HG03579.hp1 HG04204.hp2 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0034 a0001c0001t0047 a0002c0002t0004 a0002c0002t0015 a0002c0002t0050	a0001c0001t0001g0098 a0001c0001t0005g0006 a0001c0001t0006g0066 others(6): Show a0001c0001t0001g0098 a0001c0001t0005g0006 a0001c0001t0006g0066 a0001c0001t0017g0140 a0001c0001t0034g0043 a0001c0001t0047g0009 a0002c0002t0004g0036 a0002c0002t0015g0129 a0002c0002t0050g0147	9	150	0.0600	-22	c.722 others(39): Show c.722-2433_722-2412delGAGAAAGGAGAGTTCAGGGGGC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77486515	TGTGTGTG others(15): Show TGTGTGTGCGCGCACGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02486.hp2 HG02717.hp2 others(3): Show HG00639.hp2 HG02486.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0052 others(2): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0052 a0002c0002t0015 a0002c0002t0050	a0001c0001t0002g0119 a0001c0001t0011g0111 a0001c0001t0011g0139 others(3): Show a0001c0001t0002g0119 a0001c0001t0011g0111 a0001c0001t0011g0139 a0001c0001t0052g0013 a0002c0002t0015g0129 a0002c0002t0050g0147	6	150	0.0400	-22	c.914 others(37): Show c.914-904_914-883delGTGCGCGCACGCGCGCGCGTGT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77452268	TTTTCATG others(15): Show TTTTCATGCTGGGAGAACCCCAG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03654.hp1 HG04115.hp1 others(2): Show HG03017.hp1 HG03654.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0004t0041	a0001c0001t0001g0087 a0001c0001t0004g0031 a0001c0001t0004g0081 others(2): Show a0001c0001t0001g0087 a0001c0001t0004g0031 a0001c0001t0004g0081 a0001c0001t0005g0028 a0001c0004t0041g0003	5	158	0.0317	-22	c.668 others(41): Show c.668-29875_668-29854delTTTCATGCTGGGAGAACCCCAG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	2/10			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77466054	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0135 a0002c0005t0011g0135	1	158	0.0063	-22	c.668 others(41): Show c.668-16058_668-16037delACACACACACACACACACACAC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77466086	ACACACAC others(15): Show ACACACACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03654.hp2 NA18944.hp1 others(3): Show HG02056.hp2 HG03654.hp2 NA18944.hp1 NA18973.hp2 NA18979.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0045 others(1): Show a0001c0001t0001 a0001c0001t0039 a0001c0001t0045 a0001c0001t0048	a0001c0001t0001g0038 a0001c0001t0001g0083 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0083 a0001c0001t0001g0154 a0001c0001t0039g0051 a0001c0001t0045g0001 a0001c0001t0048g0131	6	158	0.0380	-22	c.668 others(41): Show c.668-16057_668-16036delCACACACACACACACACACACG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	2/10			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77479704	TGGGGGCG others(15): Show TGGGGGCGAGAAAGGAGAGTTCA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02809.hp1 HG02818.hp2 others(11): Show HG02056.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG03017.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18944.hp1 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0030 a0001c0001t0039 a0001c0001t0045 a0001c0001t0056 a0001c0004t0041 a0002c0002t0003 a0002c0002t0009 a0002c0002t0036	a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0154 others(11): Show a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0154 a0001c0001t0004g0031 a0001c0001t0004g0081 a0001c0001t0005g0028 a0001c0001t0030g0153 a0001c0001t0039g0051 a0001c0001t0045g0001 a0001c0001t0056g0075 a0001c0004t0041g0003 a0002c0002t0003g0139 a0002c0002t0009g0036 a0002c0002t0036g0133	14	158	0.0886	-22	c.668 others(39): Show c.668-2433_668-2412delGAGAAAGGAGAGTTCAGGGGGC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77486515	TGTGTGTG others(15): Show TGTGTGTGCGCGCACGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02486.hp1 HG02717.hp2 others(3): Show HG00639.hp2 HG02486.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0018 a0001c0001t0038 others(3): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0038 a0001c0001t0058 a0002c0002t0009 a0002c0002t0036	a0001c0001t0002g0156 a0001c0001t0018g0101 a0001c0001t0038g0106 others(3): Show a0001c0001t0002g0156 a0001c0001t0018g0101 a0001c0001t0038g0106 a0001c0001t0058g0076 a0002c0002t0009g0036 a0002c0002t0036g0133	6	158	0.0380	-22	c.860 others(37): Show c.860-904_860-883delGTGCGCGCACGCGCGCGCGTGT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158124768	CACACACA others(15): Show CACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0021 a0008c0008t0021	a0008c0008t0021g0025 a0008c0008t0021g0025	1	366	0.0027	-22	c.101 others(41): Show c.1015+3318_1015+3339delATGTGTGTGTGTGTGTGTGTGT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	10/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143329	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0004g0291 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0004g0291	3	366	0.0082	-22	c.610 others(37): Show c.610-167_610-146delTATAGAGAGAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143331	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03041.hp1 NA19066.hp1 HG02080.hp2 HG03041.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0002t0003 a0001c0001t0002 a0001c0001t0008 a0001c0002t0003	a0001c0001t0002g0054 a0001c0001t0008g0020 a0001c0002t0003g0339 a0001c0001t0002g0054 a0001c0001t0008g0020 a0001c0002t0003g0339	3	366	0.0082	-22	c.610 others(37): Show c.610-169_610-148delTATATAGAGAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143333	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01257.hp2 HG01891.hp2 others(15): Show HG00558.hp2 HG01257.hp2 HG01891.hp2 HG02056.hp1 HG02280.hp2 HG02922.hp1 HG02922.hp2 NA18968.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18993.hp1 NA18995.hp2 NA19058.hp2 NA19064.hp2 NA19070.hp2 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0002t0003	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0032 others(12): Show a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0203 a0001c0001t0002g0234 a0001c0001t0008g0019 a0001c0001t0011g0236 a0001c0001t0015g0053 a0001c0002t0003g0288 a0001c0002t0003g0333	18	366	0.0492	-22	c.610 others(37): Show c.610-171_610-150delTATATATAGAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143335	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01361.hp2 HG01934.hp2 others(30): Show HG00280.hp1 HG01361.hp2 HG01934.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp2 HG02129.hp1 HG02647.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03942.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18968.hp1 NA18970.hp1 NA18977.hp1 NA19000.hp2 NA19004.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0002t0003 a0002c0004t0006	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 others(29): Show a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0004g0037 a0001c0001t0006g0007 a0001c0001t0006g0187 a0001c0001t0008g0018 a0001c0001t0008g0021 a0001c0001t0011g0252 a0001c0002t0003g0253 a0002c0004t0006g0185	33	366	0.0902	-22	c.610 others(37): Show c.610-173_610-152delTATATATATAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143337	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG00673.hp2 others(37): Show HG00544.hp1 HG00621.hp1 HG00673.hp2 HG00741.hp1 HG01943.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02145.hp2 HG02523.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02976.hp2 HG03239.hp1 HG03491.hp2 HG03831.hp2 HG04204.hp1 NA18940.hp1 NA18941.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18969.hp2 NA18983.hp2 NA18986.hp1 NA19001.hp2 NA19009.hp2 NA19060.hp2 NA19077.hp1 NA19079.hp1 NA19082.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0026 others(32): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0004g0043 a0001c0001t0008g0022	40	366	0.1093	-22	c.610 others(37): Show c.610-175_610-154delTATATATATATAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143339	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01257.hp1 HG01258.hp2 others(7): Show HG01123.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp1 HG02280.hp1 NA18993.hp2 NA19012.hp1 NA19057.hp1 NA19078.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0057 a0001c0001t0002g0058 others(7): Show a0001c0001t0002g0027 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0239	10	366	0.0273	-22	c.610 others(37): Show c.610-177_610-156delTATATATATATATAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERBP1_chr1_67402810_67435402	67409401	ACACACAC others(15): Show ACACACACACACACACACACCCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02622.hp2 others(8): Show HG01884.hp1 HG02145.hp2 HG02622.hp2 HG02630.hp1 HG02809.hp2 HG03098.hp1 HG03209.hp1 HG03486.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0014 a0001c0001t0017	a0001c0001t0014g0043 a0001c0001t0014g0215 a0001c0001t0014g0220 others(7): Show a0001c0001t0014g0043 a0001c0001t0014g0215 a0001c0001t0014g0220 a0001c0001t0014g0221 a0001c0001t0014g0222 a0001c0001t0017g0157 a0001c0001t0017g0216 a0001c0001t0017g0217 a0001c0001t0017g0218 a0001c0001t0017g0219	11	368	0.0299	-22	c.37 others(33): Show c.3784_*3805delGGGGTGTGTGTGTGTGTGTGTG	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding	8/8	3784		chr1	TogoVar
SERGEF_chr11_17783048_18018047	17896612	GGGGAAGG others(15): Show GGGGAAGGGAAGGGGAAGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	226	0.0044	-22	c.101 others(43): Show c.1012-18390_1012-18369delTTCCCCTTCCCCTTCCCTTCCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERGEF_chr11_17783048_18018047	18015274	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01433.hp1 NA19091.hp2 HG01255.hp1 HG01433.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0201 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0201	3	226	0.0133	-22	c.-22 others(33): Show c.-2286_-2265delTCTCTCTCTCTCTCTCTCTCTC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding		2228		chr11	TogoVar
SERINC5_chr5_80133727_80261048	80197308	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02258.hp1 others(5): Show HG01243.hp2 HG02055.hp1 HG02258.hp1 HG02486.hp1 HG02818.hp2 HG02976.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0040 a0001c0001t0042 a0001c0001t0053	a0001c0001t0002g0277 a0001c0001t0006g0064 a0001c0001t0007g0069 others(5): Show a0001c0001t0002g0277 a0001c0001t0006g0064 a0001c0001t0007g0069 a0001c0001t0007g0150 a0001c0001t0007g0275 a0001c0001t0040g0066 a0001c0001t0042g0065 a0001c0001t0053g0061	8	286	0.0280	-22	c.195 others(39): Show c.195+5556_195+5577delTCTCTCTCTCTCTCTCTCTCTC	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	2/11			chr5	TogoVar
SERPINA11_chr14_94437464_94457800	94449395	TCTTTCTT others(15): Show TCTTTCTTTCTATTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02155.hp2 HG02300.hp2 others(1): Show HG01934.hp2 HG02155.hp2 HG02300.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0057 a0001c0001t0001g0269 a0001c0001t0001g0271	4	452	0.0089	-22	c.-3- others(35): Show c.-3-640_-3-619delGAAAGAAAGAATAGAAAGAAAG	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA11_chr14_94437464_94457800	94449463	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTGTC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	452	0.0022	-22	c.-3- others(35): Show c.-3-708_-3-687delGACAGAAAGAAAGAAAGAAAGA	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINB5_chr18_63471958_63510085	63473286	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG03139.hp2 NA19043.hp1 HG02486.hp2 HG03139.hp2 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0024 a0002c0004t0004g0060 a0002c0004t0004g0024 a0002c0004t0004g0060	3	410	0.0073	-22	c.-37 others(33): Show c.-3766_-3745delAAAAAAAAAAAAAAAAAAAAAA	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding		3671		chr18	TogoVar

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