Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SERGEF_chr11_17783048_18018047	17896542	G G	GGGGAAGG others(25): Show GGGGAAGGGAAGGGGAAGGGAAGGGAAGGGGAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19043.hp2 HG03098.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0033 a0004c0004t0001g0004 a0001c0001t0001g0033 a0004c0004t0001g0004	2	226	0.0089	32	c.101 others(53): Show c.1012-18330_1012-18299dupTTCCCCTTCCCTTCCCTTCCCCTT CCCTTCCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERGEF_chr11_17783048_18018047	17896623	G G	GGGAAGGG others(25): Show GGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	226	0.0044	32	c.101 others(53): Show c.1012-18380_1012-18379insTTCCCCTTCCCTTCCCCTTCCCTT CCCCTTCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERGEF_chr11_17783048_18018047	17896837	T T	TAACGGAA others(25): Show TAACGGAAGGGTAAGGGAAGGGAAGGGTAAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	226	0.0044	32	c.101 others(53): Show c.1012-18594_1012-18593insCCCTTACCCTTCCCTTCCCTTACC CTTCCGTT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG03834.hp2 NA18941.hp1 others(3): Show HG01257.hp1 HG03834.hp2 NA18941.hp1 NA18948.hp2 NA18991.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0003 a0001c0001t0002g0022 a0001c0001t0002g0103 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0022 a0001c0001t0002g0103 a0001c0001t0004g0004	6	366	0.0164	32	c.37 others(43): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02129.hp2 NA19081.hp2 HG00423.hp1 HG02129.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0076 a0001c0001t0002g0019 a0001c0001t0002g0076	3	366	0.0082	32	c.760 others(45): Show c.760-23_760-22insATATATATATATATATATATTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC2_chr1_31408213_31439678	31436035	T T	TGCAGCAG others(25): Show TGCAGCAGCTGGGGGCAGGTGCCAGGGCTCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	1	376	0.0027	32	c.18 others(43): Show c.1836_*1837insGCAGCAGCTGGGGGCAGGTGCCAGGGCTCAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding		1358		chr1	TogoVar
SERINC5_chr5_80133727_80261048	80160983	T T	TGTGTATA others(25): Show TGTGTATATGTATATATATACGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00621.hp1 others(22): Show HG00323.hp1 HG00609.hp2 HG00621.hp1 HG01070.hp1 HG01496.hp2 HG01884.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02976.hp1 HG03209.hp2 HG03579.hp2 HG04199.hp1 NA18945.hp1 NA18948.hp1 NA18971.hp1 NA18977.hp2 NA19003.hp1 NA19009.hp2 NA19057.hp1 NA19074.hp2 NA19082.hp1 NA19086.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0055 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0055 a0001c0002t0003 a0001c0002t0005 a0001c0002t0027 a0001c0002t0031 a0001c0002t0069 a0001c0002t0073 a0001c0010t0005 a0002c0004t0016	a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0103 others(22): Show a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0002g0071 a0001c0001t0055g0276 a0001c0002t0003g0168 a0001c0002t0003g0184 a0001c0002t0003g0186 a0001c0002t0003g0193 a0001c0002t0003g0202 a0001c0002t0003g0224 a0001c0002t0005g0176 a0001c0002t0005g0201 a0001c0002t0005g0214 a0001c0002t0005g0263 a0001c0002t0027g0148 a0001c0002t0027g0274 a0001c0002t0031g0001 a0001c0002t0069g0246 a0001c0002t0073g0204 a0001c0010t0005g0223 a0002c0004t0016g0231	25	286	0.0874	32	c.860 others(49): Show c.860-2053_860-2022dupGTATATATACACGTATATATATACATAT ACAC	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	7/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80160991	T T	TGTATATA others(25): Show TGTATATATATACGTGTATATATACGTGTATAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0110 a0002c0004t0005g0110	1	286	0.0035	32	c.860 others(49): Show c.860-2030_860-2029insGTATACACGTATATATACACGTATATAT ATAC	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	7/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80181414	T T	TATTGTGT others(25): Show TATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01993.hp2 NA18971.hp2 others(1): Show HG01433.hp2 HG01993.hp2 NA18971.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0017 a0001c0001t0002 a0001c0002t0003 a0001c0002t0017	a0001c0001t0002g0025 a0001c0001t0002g0239 a0001c0002t0003g0035 others(1): Show a0001c0001t0002g0025 a0001c0001t0002g0239 a0001c0002t0003g0035 a0001c0002t0017g0072	4	286	0.0140	32	c.196 others(49): Show c.196-3351_196-3350insCACACACACACACACACACACACACACA CAAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	2/11			chr5	TogoVar
SERPINA11_chr14_94437464_94457800	94449466	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	452	0.0022	32	c.-3- others(45): Show c.-3-690_-3-689insGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINB12_chr18_63537369_63574329	63558999	C C	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0231 a0001c0001t0015g0231	1	402	0.0025	32	c.303 others(47): Show c.303+516_303+517insTTTCTTTCTTTCTTTCTCTCTTTCTTTCTT TC	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB9_chr6_2882270_2908309	2893191	T T	TATATATA others(25): Show TATATATATATTATATATACGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02615.hp1 others(2): Show HG02559.hp2 HG02572.hp2 HG02615.hp1 HG03225.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0006 a0001c0001 a0001c0003 a0005c0006	a0001c0001t0008 a0001c0001t0019 a0001c0001t0040 others(2): Show a0001c0001t0008 a0001c0001t0019 a0001c0001t0040 a0001c0003t0071 a0005c0006t0026	a0001c0001t0008g0224 a0001c0001t0019g0116 a0001c0001t0040g0115 others(2): Show a0001c0001t0008g0224 a0001c0001t0019g0116 a0001c0001t0040g0115 a0001c0003t0071g0070 a0005c0006t0026g0114	5	462	0.0108	32	c.567 others(47): Show c.567+219_567+220insTATATATATATACGTATATATAATATATAT AT	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SERPINB9_chr6_2882270_2908309	2900885	T T	TCTCTCTC others(25): Show TCTCTCTCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02818.hp2 HG01884.hp2 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0082 a0002c0002t0083 a0001c0001t0082 a0002c0002t0083	a0001c0001t0082g0087 a0002c0002t0083g0089 a0001c0001t0082g0087 a0002c0002t0083g0089	2	462	0.0043	32	c.-10 others(47): Show c.-10-265_-10-264insTGTGTGTGTGTGTGTGTGTGTGTGAGAGAG AG	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	1/6			chr6	TogoVar
SERPINE2_chr2_223970045_224044286	224005064	A A	ATTATATA others(25): Show ATTATATATTTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	374	0.0027	32	c.-22 others(49): Show c.-22-3143_-22-3142insATATATATATATATATATATATAAATAT ATAA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	1/8			chr2	TogoVar
SERPINE2_chr2_223970045_224044286	224044077	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	374	0.0027	32	c.-50 others(43): Show c.-5002_-5001insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding		4792		chr2	TogoVar
SERPINI1_chr3_167730721_167830569	167759400	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19030.hp1 NA18989.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0111 a0001c0004t0001g0197 a0001c0001t0001g0111 a0001c0004t0001g0197	2	232	0.0086	32	c.-19 others(51): Show c.-19+23598_-19+23599insATATATATATATATATATATATATAT ATATAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18960.hp2 NA18989.hp1 others(2): Show HG03139.hp1 NA18960.hp2 NA18989.hp1 NA19064.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0020 a0001c0001t0002g0056 a0001c0001t0016g0054 a0001c0001t0002g0020 a0001c0001t0002g0056 a0001c0001t0016g0054	5	438	0.0114	32	c.-17 others(51): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETD1B_chr12_121799009_121837656	121834987	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01928.hp1 HG02683.hp1 others(3): Show HG01433.hp2 HG01928.hp1 HG02683.hp1 HG03669.hp2 HG03831.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0043 a0001c0002t0001g0071 others(3): Show a0001c0002t0001g0019 a0001c0002t0001g0043 a0001c0002t0001g0071 a0001c0002t0001g0086 a0001c0002t0001g0100 a0001c0002t0001g0114	6	262	0.0229	32	c.47 others(43): Show c.4748_*4749insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2332		chr12	TogoVar
SETD2_chr3_47011436_47169113	47049912	A A	ATTTATAT others(25): Show ATTTATATATTATATATAAACTTATTCTATAAG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	308	0.0033	32	c.696 others(51): Show c.6964-3323_6964-3292dupCTTATAGAATAAGTTTATATATAATA TATAAA	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	15/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99403453	A A	ACTCTCTC others(25): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	290	0.0035	32	c.117 others(49): Show c.1177+771_1177+772insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	11/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9445962	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0171 a0001c0001t0022g0171	1	240	0.0042	32	c.152 others(49): Show c.1524+224_1524+225insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD7_chr4_139501038_139561219	139547593	T T	TGATGGAT others(25): Show TGATGGATTTCTACTGTTGATTTTATAATATCG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0262 a0001c0001t0016g0262	1	316	0.0032	32	c.41- others(45): Show c.41-545_41-544insCGATATTATAAAATCAACAGTAGAAATCCATC	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	1/7			chr4	TogoVar
SEZ6L_chr22_26164462_26388596	26244163	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp2 HG02040.hp1 others(2): Show HG01928.hp1 HG01928.hp2 HG02040.hp1 HG02300.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0218 others(2): Show a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0218 a0001c0001t0003g0215 a0001c0001t0005g0053	5	240	0.0208	32	c.95- others(49): Show c.95-48220_95-48219insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26278999	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0003 a0008c0020t0003	a0008c0020t0003g0214 a0008c0020t0003g0214	1	240	0.0042	32	c.95- others(49): Show c.95-13397_95-13396insAAGGAAGGAAGGAAGGAAAGACGGAAGG AAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGGAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp1 HG02055.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0004 a0001c0008t0001 a0001c0003t0004 a0001c0008t0001	a0001c0003t0004g0210 a0001c0008t0001g0160 a0001c0003t0004g0210 a0001c0008t0001g0160	2	240	0.0083	32	c.240 others(49): Show c.2407+655_2407+656insGGAAGGAAGGAAGGGAGGAAAGAAAGAA AGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	344	0.0029	32	c.495 others(47): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31562983	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0038 a0006c0038	a0006c0038t0001 a0006c0038t0001	a0006c0038t0001g0033 a0006c0038t0001g0033	1	322	0.0031	32	c.765 others(49): Show c.765+1610_765+1611insATATATATATATATATATATATATATAT ATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31612426	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA19057.hp1 HG03491.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0111 a0002c0002t0001g0060 a0002c0002t0001g0111	2	322	0.0062	32	c.249 others(49): Show c.2490+587_2490+588insTATATATATATATATATATATATATATA TAAA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52928639	T T	TATATATA others(25): Show TATATATATATATACATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	328	0.0031	32	c.898 others(47): Show c.898-299_898-298insGTATATATATGTATATATGTATATATATAT AT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	8/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52928645	T T	TATATATA others(25): Show TATATATATATACACATATATACATATATACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0170 a0001c0001t0007g0170	1	328	0.0031	32	c.898 others(47): Show c.898-305_898-304insGTGTATATATGTATATATGTGTATATATAT AT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	8/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01361.hp2 HG02293.hp1 others(1): Show HG00673.hp1 HG01361.hp2 HG02293.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0043 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0003t0001g0197	4	328	0.0122	32	c.124 others(49): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01123.hp2 others(12): Show HG00738.hp2 HG01069.hp1 HG01123.hp2 HG02056.hp2 HG02155.hp1 HG02965.hp1 HG02976.hp1 HG03209.hp2 HG04184.hp2 NA18994.hp2 NA18995.hp1 NA19011.hp1 NA19063.hp2 NA19084.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0114 a0001c0001t0001g0116 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0002t0001g0285	15	318	0.0472	32	c.240 others(51): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	318	0.0031	32	c.240 others(51): Show c.2409-2670_2409-2669insTTATATATATATATATATATATATAT ATATAT	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTTTTTAT others(25): Show TTTTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	318	0.0031	32	c.240 others(51): Show c.2409-2670_2409-2669insTTTTATATATATATATATATATATAT ATATAT	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131796027	G G	GGGAGGGG others(25): Show GGGAGGGGGAGGGGAGGGGAGAGGGGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	318	0.0031	32	c.253 others(51): Show c.2535-1144_2535-1143insGAGGGGAGGGGAGAGGGGGGAGGGAG GAGGGG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131796047	A A	AGGGGGAG others(25): Show AGGGGGAGGGGAGGGGGGGAGGGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	318	0.0031	32	c.253 others(51): Show c.2535-1116_2535-1115insGGGAGGGGAGAGGAGAGGGGGGAGGG GAGGGG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFTA2_chr6_30926353_30937170	30933451	T T	TCCTCCCT others(25): Show TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0007 a0002c0003t0003g0007	1	435	0.0023	32	c.-13 others(43): Show c.-1356_-1355insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	SFTA2	ENSG00000196260.5	transcript	ENST00000359086.4	protein_coding		1282		chr6	TogoVar
SFXN5_chr2_72937036_73076712	73047241	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0116 a0001c0008t0001g0116	1	250	0.0040	32	c.172 others(49): Show c.172-6311_172-6310insGTATATATATATATATATATATATATAT ATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047247	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	250	0.0040	32	c.172 others(49): Show c.172-6317_172-6316insGTGTGTGTATATATATATATATATATAT ATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047249	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	250	0.0040	32	c.172 others(49): Show c.172-6350_172-6319dupGTGTGTATATATATATATATATATATAT ATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047253	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	250	0.0040	32	c.172 others(49): Show c.172-6323_172-6322insGTGTGTATATATATATATATATATATAT ATAT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCACAC others(25): Show GCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	250	0.0040	32	c.171 others(49): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73050388	G G	GCGCGCAC others(25): Show GCGCGCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18948.hp2 NA18964.hp2 HG03927.hp1 NA18948.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0072 a0001c0002t0001g0083 a0001c0002t0001g0056 a0001c0002t0001g0072 a0001c0002t0001g0083	3	250	0.0120	32	c.171 others(49): Show c.171+8139_171+8140insTGTGTGTGTGTGTGTGTGTGTGTGTGTG CGCG	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0144 a0001c0001t0016g0144	1	150	0.0067	32	c.192 others(49): Show c.192+5587_192+5588insATATATATATATATATATATATATATAT ATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCG_chr13_23175979_23330162	23275120	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19011.hp2 NA19079.hp2 HG00099.hp2 NA19011.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0010 a0001c0001t0001 a0001c0002t0001 a0001c0003t0010	a0001c0001t0001g0186 a0001c0002t0001g0271 a0001c0003t0010g0136 a0001c0001t0001g0186 a0001c0002t0001g0271 a0001c0003t0010g0136	3	354	0.0085	32	c.386 others(49): Show c.386-4216_386-4215insTATATATATATATATATATATATATATA TATA	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGCG_chr13_23175979_23330162	23314382	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18946.hp1 NA18970.hp1 others(4): Show HG03516.hp2 NA18946.hp1 NA18970.hp1 NA18980.hp2 NA19011.hp1 NA19065.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0003t0011	a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0194 others(4): Show a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0194 a0001c0001t0005g0122 a0001c0001t0005g0134 a0001c0002t0002g0006 a0001c0003t0011g0316	7	354	0.0198	32	c.579 others(49): Show c.579-6254_579-6253insTTATATATATATATATATATATATATAT ATAT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(25): Show AAAGAAAGAAGGAAAGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03209.hp1 HG01515.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0203 a0001c0001t0027g0091 a0001c0001t0001g0203 a0001c0001t0027g0091	2	302	0.0066	32	c.75- others(47): Show c.75-2165_75-2164insAGAAAGAAGGAAAGAAGGGAGGGAGGGAGG GA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAGG others(25): Show AAAGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	302	0.0033	32	c.75- others(47): Show c.75-2165_75-2164insAGAAGGGAGGGAGGGAGGGAGGGAGGGAGG GA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGGAGG others(25): Show AAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	302	0.0033	32	c.75- others(47): Show c.75-2165_75-2164insAGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAGGAAAG others(25): Show AAGGAAAGAAAGAAGGAAAGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	302	0.0033	32	c.75- others(47): Show c.75-2163_75-2162insAAAGAAAGAAGGAAAGAAGGGAGGGAGGGA GG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar

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