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
ABCC2_chr10_99777640_99857594	99814596	C C	CACACACA others(19): Show CACACACATATGTGTATATACACATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18964.hp1 NA19074.hp1 NA18944.hp1 NA18964.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074	3	336	0.0089	26	c.209 others(45): Show c.2094+1486_2094+1511dupTATGTGTATATACACATATACACACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814650	C C	CACACACA others(19): Show CACACACATATGTGTATATACACATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0165 a0001c0017t0001g0165	1	336	0.0030	26	c.209 others(45): Show c.2094+1514_2094+1539dupTATGTGTATATACACATATACACACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814658	T T	TATGTGTA others(19): Show TATGTGTATATACACATATACACACAC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0240 a0002c0003t0001g0240	1	336	0.0030	26	c.209 others(45): Show c.2094+1515_2094+1540dupATGTGTATATACACATATACACACAC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673962	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18941.hp1 NA18988.hp1 HG01952.hp1 NA18941.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0170 a0001c0001t0001g0190 a0001c0001t0001g0192	3	342	0.0088	26	c.259 others(43): Show c.2599+323_2599+324insTTCTTTCTCTTTCTTTCTTTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673970	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	342	0.0029	26	c.259 others(43): Show c.2599+323_2599+324insTTCTTTCTTTCTTTCTCTTTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673978	T T	TTCTCTTT others(19): Show TTCTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	342	0.0029	26	c.259 others(43): Show c.2599+325_2599+326insTTCTTTCTTTCTTTCTTTCTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673978	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	342	0.0029	26	c.259 others(43): Show c.2599+323_2599+324insTTCTTTCTCTCTCTCTCTCTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673980	C C	CCTTCCTT others(19): Show CCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	342	0.0029	26	c.259 others(43): Show c.2599+322_2599+323insCTTCCTTCCTTCCTTCCTTCCTTCCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30			chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673990	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp2 HG01243.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0316 a0001c0002t0006g0266 a0001c0002t0001g0316 a0001c0002t0006g0266	2	342	0.0059	26	c.259 others(43): Show c.2599+333_2599+334insTTCTTTCTTTCTTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674034	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	342	0.0029	26	c.259 others(43): Show c.2599+377_2599+378insTTCTTTCTTTCTTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95247918	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp1 HG01109.hp2 others(17): Show HG00323.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG02071.hp1 HG02145.hp2 HG02559.hp1 HG02602.hp1 HG02818.hp2 HG02886.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG04115.hp2 HG04199.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0015	a0001c0001 a0001c0003 a0001c0010 others(11): Show a0001c0001 a0001c0003 a0001c0010 a0001c0012 a0001c0017 a0001c0024 a0001c0040 a0001c0053 a0002c0005 a0002c0020 a0002c0028 a0007c0069 a0007c0070 a0015c0062	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0005 a0001c0010t0001 a0001c0012t0016 a0001c0017t0002 a0001c0024t0006 a0001c0040t0003 a0001c0053t0012 a0002c0005t0002 a0002c0020t0004 a0002c0028t0010 a0007c0069t0009 a0007c0070t0005 a0015c0062t0003	a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0084 others(17): Show a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0002g0085 a0001c0001t0002g0203 a0001c0003t0001g0020 a0001c0003t0005g0077 a0001c0010t0001g0150 a0001c0012t0016g0089 a0001c0017t0002g0086 a0001c0024t0006g0032 a0001c0040t0003g0124 a0001c0053t0012g0072 a0002c0005t0002g0017 a0002c0020t0004g0016 a0002c0020t0004g0130 a0002c0028t0010g0014 a0007c0069t0009g0043 a0007c0070t0005g0054 a0015c0062t0003g0013	20	248	0.0807	26	c.75- others(39): Show c.75-166_75-165insTGTGTGTGTGTGTGTGTGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	212	0.0047	26	c.816 others(41): Show c.816+153_816+154insAAAAAAAAAAAATATATATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG04204.hp1 HG02055.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0089 a0001c0002t0001g0184 a0001c0001t0001g0089 a0001c0002t0001g0184	2	212	0.0094	26	c.816 others(41): Show c.816+153_816+154insAAAAAAAAAAAAAATATATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0067	1	212	0.0047	26	c.816 others(41): Show c.816+153_816+154insAAAAAAAAAAAAAAAATATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(19): Show ATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	212	0.0047	26	c.816 others(41): Show c.816+153_816+154insAAAAAAAAAAAAAAAAAATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATTT others(19): Show ATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0192 a0001c0006t0005g0192	1	212	0.0047	26	c.816 others(41): Show c.816+153_816+154insAAAAAAAAAAAAAAAAAAAAAATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCG2_chr4_88085269_88163639	88115232	G G	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTGTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG02809.hp1 others(6): Show HG02486.hp1 HG02647.hp1 HG02809.hp1 HG02895.hp2 HG02965.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0090 others(6): Show a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0005g0140	9	350	0.0257	26	c.842 others(41): Show c.842-175_842-174insGAGAGAGAGACAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	350	0.0029	26	c.842 others(41): Show c.842-199_842-198insTATATATATAGAGAGAGAGAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88137060	T T	TAAAATAA others(19): Show TAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0339 a0001c0001t0004g0339	1	350	0.0029	26	c.203 others(43): Show c.203+2732_203+2733insTATTTTATTTTATTTTATTTTATTTT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	2/15			chr4	TogoVar
ABCG8_chr2_43833971_43887988	43887143	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02080.hp2 NA19003.hp1 others(1): Show HG02027.hp1 HG02080.hp2 NA19003.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0018 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0019 a0003c0002t0098	a0001c0001t0001g0129 a0001c0001t0018g0003 a0001c0001t0019g0066 others(1): Show a0001c0001t0001g0129 a0001c0001t0018g0003 a0001c0001t0019g0066 a0003c0002t0098g0191	4	318	0.0126	26	c.92 others(37): Show c.9230_*9231insAAAAAAAAAAAAAAAAAAAAAAAAAA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		4156		chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870953	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0033	1	376	0.0027	26	c.-12 others(37): Show c.-1222_-1221insAGAAAGAAAGAAAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1099		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870973	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	376	0.0027	26	c.-12 others(37): Show c.-1202_-1201insAGAAAGAAAGAAAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1079		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0291 a0003c0003t0003g0291	1	376	0.0027	26	c.-11 others(37): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	376	0.0027	26	c.-11 others(37): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870991	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG03486.hp2 NA18969.hp1 HG01074.hp1 HG03486.hp2 NA18969.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0009 a0001c0001t0001 a0004c0009t0009	a0001c0001t0001g0121 a0001c0001t0001g0193 a0004c0009t0009g0165 a0001c0001t0001g0121 a0001c0001t0001g0193 a0004c0009t0009g0165	3	376	0.0080	26	c.-11 others(37): Show c.-1184_-1183insAGAAAGAAAGAAAGAAAGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1061		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0211 a0001c0002t0003g0211	1	316	0.0032	26	c.422 others(41): Show c.422+943_422+944insAAAAAATATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01943.hp2 HG01975.hp2 others(5): Show HG01175.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0162 a0001c0002t0003g0178 a0001c0002t0003g0182 others(5): Show a0001c0002t0002g0162 a0001c0002t0003g0178 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0197 a0001c0002t0003g0208 a0001c0002t0003g0210	8	316	0.0253	26	c.422 others(41): Show c.422+943_422+944insAAAAAAAATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01070.hp1 others(11): Show HG00280.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp2 HG01255.hp1 HG01515.hp1 HG01516.hp1 HG01952.hp2 HG02818.hp1 HG02922.hp1 HG03710.hp1 HG04184.hp2 NA19043.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0174 others(11): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0002g0075 a0001c0001t0003g0223 a0001c0001t0004g0076 a0001c0001t0008g0212 a0001c0001t0008g0217	14	360	0.0389	26	c.590 others(43): Show c.590+9323_590+9348dupTGTGTGTGTGTGTGTGTGTGTGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80705362	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18984.hp2 HG01978.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0333 a0001c0001t0005g0334 a0001c0001t0003g0333 a0001c0001t0005g0334	2	360	0.0056	26	c.590 others(43): Show c.590+9348_590+9349insTGTGTGTGTGTGTGTGTGTGGGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89127706	C C	CATATATA others(19): Show CATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0082 a0001c0001t0008g0082	1	234	0.0043	26	c.194 others(45): Show c.194+11198_194+11199insTATATATACATATATATATATATATA	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89127724	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	234	0.0043	26	c.194 others(45): Show c.194+11219_194+11220insATATATATACATATATATATATATAT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89205168	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp2 HG01517.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0224 a0001c0001t0003g0061 a0001c0001t0003g0224	2	234	0.0086	26	c.97 others(37): Show c.9745_*9746insTCTCTCTCTCTCTCTCTCTCTCTCTT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding		2814		chr15	TogoVar
ABHD3_chr18_21645901_21709774	21667234	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	304	0.0033	26	c.556 others(43): Show c.556-3030_556-3005dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	4/8			chr18	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GCATATAT others(19): Show GCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	302	0.0033	26	c.837 others(43): Show c.837+1395_837+1396insCATATATATATATATATATATATATA	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9			chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286850	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	302	0.0033	26	c.837 others(43): Show c.837+1398_837+1399insATATATATATATATATATATATATAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABI1_chr10_26741596_26865958	26773215	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01109.hp1 others(28): Show HG00099.hp2 HG00639.hp1 HG01109.hp1 HG01255.hp1 HG01433.hp2 HG01981.hp2 HG02027.hp1 HG02273.hp2 HG02523.hp2 HG02698.hp2 HG03490.hp1 HG03491.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp2 NA18942.hp2 NA18952.hp1 NA18962.hp1 NA18964.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18994.hp1 NA18994.hp2 NA19056.hp2 NA19078.hp1 NA19085.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0051 others(28): Show a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0318 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0289 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0013g0309	31	358	0.0866	26	c.463 others(43): Show c.463-2127_463-2126insAAAAAAAAAAAAAAAAAAAAAAAAAA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	3/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26851348	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0017	1	358	0.0028	26	c.117 others(43): Show c.117+9373_117+9398dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203338935	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	320	0.0031	26	c.117 others(45): Show c.117+10329_117+10330insAATATATATATATATATATATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338983	A A	AATATATA others(19): Show AATATATATATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	320	0.0031	26	c.117 others(45): Show c.117+10369_117+10370insAATATATATATATATATATATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203373803	A A	AAGAGCTA others(19): Show AAGAGCTAGGTATTGAAAGGCAGTGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0319 a0001c0001t0022g0319	1	320	0.0031	26	c.286 others(43): Show c.286-6404_286-6379dupAGAGCTAGGTATTGAAAGGCAGTGGC	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203385139	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0246 a0001c0001t0001g0270 a0001c0001t0001g0224 a0001c0001t0001g0246 a0001c0001t0001g0270	3	320	0.0094	26	c.480 others(43): Show c.480+2946_480+2947insTTTTTTTTTTTTTTTTTTTTTTTTTT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100894938	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01978.hp1 NA18977.hp2 HG01361.hp2 HG01978.hp1 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0008 a0002c0010t0002 a0001c0001t0008 a0002c0010t0002	a0001c0001t0008g0198 a0002c0010t0002g0102 a0002c0010t0002g0107 a0001c0001t0008g0198 a0002c0010t0002g0102 a0002c0010t0002g0107	3	238	0.0126	26	c.461 others(43): Show c.461+3798_461+3823dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100894965	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0122 a0001c0013t0002g0122	1	238	0.0042	26	c.461 others(43): Show c.461+3796_461+3797insGTTTTTTTTTTTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100940829	T T	TATATATA others(19): Show TATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0049 a0003c0003t0003g0049	1	238	0.0042	26	c.80- others(43): Show c.80-14349_80-14348insCTATATATATATATATATATATATAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	1/67			chr3	TogoVar
ABL2_chr1_179094330_179234677	179101996	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0048 a0001c0003t0048	a0001c0003t0048g0003 a0001c0003t0048g0003	1	350	0.0029	26	c.56 others(37): Show c.5696_*5721dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	5721		chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01517.hp1 HG02258.hp1 HG00544.hp2 HG01517.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0049 a0001c0002t0002 a0001c0003t0153 a0001c0001t0049 a0001c0002t0002 a0001c0003t0153	a0001c0001t0049g0035 a0001c0002t0002g0239 a0001c0003t0153g0135 a0001c0001t0049g0035 a0001c0002t0002g0239 a0001c0003t0153g0135	3	256	0.0117	26	c.982 others(41): Show c.982+778_982+779insTATATATATATATATATATACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(19): Show GTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03710.hp1 NA18991.hp1 others(2): Show HG00673.hp2 HG03710.hp1 NA18991.hp1 NA19082.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0022 a0001c0001t0132 a0001c0003t0002 others(2): Show a0001c0001t0022 a0001c0001t0132 a0001c0003t0002 a0001c0003t0013 a0001c0003t0069	a0001c0001t0022g0030 a0001c0001t0132g0091 a0001c0003t0002g0166 others(2): Show a0001c0001t0022g0030 a0001c0001t0132g0091 a0001c0003t0002g0166 a0001c0003t0013g0178 a0001c0003t0069g0219	5	256	0.0195	26	c.982 others(41): Show c.982+778_982+779insTATATATATATATATATACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18969.hp1 NA18970.hp1 others(1): Show HG02080.hp1 NA18969.hp1 NA18970.hp1 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0022 a0001c0002t0052 a0001c0003t0004 others(1): Show a0001c0002t0022 a0001c0002t0052 a0001c0003t0004 a0001c0003t0053	a0001c0002t0022g0202 a0001c0002t0052g0223 a0001c0003t0004g0226 others(1): Show a0001c0002t0022g0202 a0001c0002t0052g0223 a0001c0003t0004g0226 a0001c0003t0053g0042	4	256	0.0156	26	c.982 others(41): Show c.982+778_982+779insTATATATATATATATACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0011 a0001c0004t0011g0011	1	256	0.0039	26	c.982 others(41): Show c.982+778_982+779insTATATATATATATACACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTATGTATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0090 a0002c0009t0090	a0002c0009t0090g0010 a0002c0009t0090g0010	1	256	0.0039	26	c.982 others(41): Show c.982+778_982+779insTATATATATACATACACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar

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