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
ABLIM1_chr10_114426112_114663275	114583462	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp2 HG02071.hp1 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0128 a0001c0003t0002 a0001c0003t0128	a0001c0003t0002g0193 a0001c0003t0128g0048 a0001c0003t0002g0193 a0001c0003t0128g0048	2	256	0.0078	14	c.380 others(31): Show c.380-7864_380-7863insATATATATATATAT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583464	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02698.hp2 NA18966.hp1 others(1): Show HG02015.hp2 HG02698.hp2 NA18966.hp1 NA19068.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0001c0003 a0008c0020 a0001c0002 a0001c0003 a0008c0020	a0001c0002t0104 a0001c0003t0007 a0001c0003t0134 others(1): Show a0001c0002t0104 a0001c0003t0007 a0001c0003t0134 a0008c0020t0044	a0001c0002t0104g0175 a0001c0003t0007g0121 a0001c0003t0134g0098 others(1): Show a0001c0002t0104g0175 a0001c0003t0007g0121 a0001c0003t0134g0098 a0008c0020t0044g0040	4	256	0.0156	14	c.380 others(31): Show c.380-7866_380-7865insATATATATATATAT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583466	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02615.hp2 HG01993.hp1 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0039 a0001c0003t0015 a0001c0003t0039	a0001c0003t0015g0199 a0001c0003t0039g0127 a0001c0003t0015g0199 a0001c0003t0039g0127	2	256	0.0078	14	c.380 others(31): Show c.380-7868_380-7867insATATATATATATAT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583468	C C	CACATATA others(7): Show CACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0067 a0001c0002t0032g0067	1	256	0.0039	14	c.380 others(31): Show c.380-7870_380-7869insATATATATATATGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583468	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19090.hp2 NA18944.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0065 a0001c0003t0009 a0001c0002t0065 a0001c0003t0009	a0001c0002t0065g0205 a0001c0003t0009g0092 a0001c0002t0065g0205 a0001c0003t0009g0092	2	256	0.0078	14	c.380 others(31): Show c.380-7883_380-7870dupATATATATATATAT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114634129	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG02040.hp1 others(7): Show HG00639.hp1 HG01109.hp1 HG02040.hp1 HG02083.hp1 HG02523.hp1 HG04199.hp1 NA18612.hp1 NA18939.hp1 NA18989.hp1 NA18994.hp2	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0003 a0006c0013 others(1): Show a0001c0001 a0001c0003 a0006c0013 a0010c0014	a0001c0001t0006 a0001c0001t0010 a0001c0001t0028 others(7): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0028 a0001c0001t0076 a0001c0003t0017 a0001c0003t0055 a0001c0003t0102 a0001c0003t0124 a0006c0013t0114 a0010c0014t0084	a0001c0001t0006g0026 a0001c0001t0010g0036 a0001c0001t0028g0247 others(7): Show a0001c0001t0006g0026 a0001c0001t0010g0036 a0001c0001t0028g0247 a0001c0001t0076g0052 a0001c0003t0017g0055 a0001c0003t0055g0025 a0001c0003t0102g0027 a0001c0003t0124g0032 a0006c0013t0114g0002 a0010c0014t0084g0148	10	256	0.0391	14	c.244 others(33): Show c.244+23814_244+23827dupAAAAAAAAAAAAAA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114644306	A A	AAAAAATA others(7): Show AAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03453.hp1 HG03041.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0008 a0001c0007t0019 a0001c0002t0008 a0001c0007t0019	a0001c0002t0008g0131 a0001c0007t0019g0132 a0001c0002t0008g0131 a0001c0007t0019g0132	2	256	0.0078	14	c.244 others(33): Show c.244+13650_244+13651insATATATATATTTTT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7969730	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03209.hp2 HG03453.hp1 others(4): Show HG02040.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03710.hp1 HG03834.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0003t0007	a0001c0001t0001g0243 a0001c0001t0001g0267 a0001c0001t0001g0277 others(4): Show a0001c0001t0001g0243 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0007g0132 a0001c0001t0007g0308 a0001c0002t0001g0060 a0001c0003t0007g0218	7	322	0.0217	14	c.182 others(33): Show c.1825-2641_1825-2628dupGTGTGTGTGTGTGT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	7980941	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	322	0.0031	14	c.182 others(33): Show c.1824+2309_1824+2322dupAAAAAAAAAAAAAA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8056112	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	322	0.0031	14	c.764 others(31): Show c.764-1880_764-1867dupTTTTTTTTTTTTTT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	7/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149147069	T T	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG02071.hp2 others(11): Show HG00597.hp1 HG00673.hp1 HG02071.hp2 HG02165.hp2 HG03486.hp2 HG03491.hp2 HG03688.hp1 HG04115.hp2 HG04199.hp1 NA18942.hp2 NA18964.hp2 NA18971.hp1 NA19057.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0006t0014	a0001c0001t0001g0082 a0001c0001t0001g0188 a0001c0001t0001g0189 others(11): Show a0001c0001t0001g0082 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0225 a0001c0001t0002g0081 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0006t0014g0214	14	258	0.0543	14	c.13+ others(29): Show c.13+4968_13+4981dupTCTCTCTCTCTCTC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149170228	T T	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG03041.hp2 HG02647.hp1 HG02886.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0005 a0001c0001 a0002c0004 a0002c0005	a0001c0001t0003 a0002c0004t0004 a0002c0005t0013 a0001c0001t0003 a0002c0004t0004 a0002c0005t0013	a0001c0001t0003g0115 a0002c0004t0004g0090 a0002c0005t0013g0020 a0001c0001t0003g0115 a0002c0004t0004g0090 a0002c0005t0013g0020	3	258	0.0116	14	c.14- others(31): Show c.14-13201_14-13188dupTCTCTCTCTCTCTC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149170228	T T	TTTTCTCT others(7): Show TTTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0214 a0001c0006t0014g0214	1	258	0.0039	14	c.14- others(31): Show c.14-13223_14-13222insTTCTCTCTCTCTCT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149225982	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	258	0.0039	14	c.758 others(31): Show c.758-4635_758-4622dupATATATATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149248859	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	258	0.0039	14	c.170 others(31): Show c.1700-929_1700-916dupACACACACACACAC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABR_chr17_998519_1184981	1022106	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18970.hp1 HG02622.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0043 a0001c0001t0002 a0001c0001t0043	a0001c0001t0002g0180 a0001c0001t0043g0008 a0001c0001t0002g0180 a0001c0001t0043g0008	2	337	0.0059	14	c.179 others(33): Show c.1792-8956_1792-8943dupTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1022120	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(38): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG01081.hp2 HG01099.hp1 HG01169.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG02040.hp2 HG02074.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02622.hp2 HG03098.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18943.hp2 NA18948.hp1 NA18954.hp1 NA18983.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0031 a0001c0001t0057 a0001c0001t0064 a0001c0001t0069 a0001c0001t0087 a0001c0001t0089 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0038 a0001c0012t0055	a0001c0001t0001g0089 a0001c0001t0001g0173 a0001c0001t0001g0199 others(38): Show a0001c0001t0001g0089 a0001c0001t0001g0173 a0001c0001t0001g0199 a0001c0001t0002g0053 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0144 a0001c0001t0002g0182 a0001c0001t0003g0117 a0001c0001t0003g0222 a0001c0001t0004g0257 a0001c0001t0004g0313 a0001c0001t0005g0266 a0001c0001t0005g0270 a0001c0001t0005g0277 a0001c0001t0005g0320 a0001c0001t0006g0086 a0001c0001t0006g0204 a0001c0001t0006g0206 a0001c0001t0006g0215 a0001c0001t0007g0288 a0001c0001t0007g0324 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0009g0022 a0001c0001t0010g0300 a0001c0001t0015g0262 a0001c0001t0019g0211 a0001c0001t0019g0221 a0001c0001t0031g0241 a0001c0001t0057g0174 a0001c0001t0064g0239 a0001c0001t0069g0153 a0001c0001t0087g0311 a0001c0001t0089g0331 a0001c0002t0001g0164 a0001c0002t0002g0100 a0001c0002t0007g0295 a0001c0002t0038g0013 a0001c0012t0055g0235	41	337	0.1217	14	c.179 others(33): Show c.1792-8957_1792-8956insGTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1022120	A A	AAAAAAAA others(7): Show AAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0155 a0001c0002t0056g0155	1	337	0.0030	14	c.179 others(33): Show c.1792-8957_1792-8956insGTTTTTGTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1024024	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	337	0.0030	14	c.179 others(35): Show c.1792-10874_1792-10861dupTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1025119	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02630.hp2 HG06807.hp2 others(2): Show HG01433.hp2 HG02630.hp2 HG06807.hp2 NA19007.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0002t0005	a0001c0001t0003g0121 a0001c0001t0003g0192 a0001c0001t0011g0167 others(2): Show a0001c0001t0003g0121 a0001c0001t0003g0192 a0001c0001t0011g0167 a0001c0001t0014g0103 a0001c0002t0005g0305	5	337	0.0148	14	c.179 others(35): Show c.1792-11969_1792-11956dupTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1115655	T T	TGGGGGGG others(7): Show TGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0314 a0001c0001t0010g0314	1	337	0.0030	14	c.246 others(31): Show c.246+9527_246+9528insCCCCCCCCCCCCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1146260	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0295 a0001c0002t0007g0295	1	337	0.0030	14	c.62- others(31): Show c.62-20907_62-20894dupGTGTGTGTGTGTGT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABT1_chr6_26591953_26605739	26600671	A A	AATGTTTT others(7): Show AATGTTTTTTTCATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0004 a0001c0003t0010g0004	1	410	0.0024	14	c.20 others(25): Show c.2026_*2027insATGTTTTTTTCATT	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding	3/3	2027		chr6	TogoVar
ABTB2_chr11_34145987_34363010	34164107	A A	ATCCAGCC others(7): Show ATCCAGCCCCGCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(172): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0012 a0002c0002 a0002c0013 a0002c0015 a0002c0016 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0021 a0001c0004t0001 a0001c0004t0009 a0001c0005t0004 a0001c0005t0022 a0001c0012t0001 a0002c0002t0002 a0002c0002t0013 a0002c0002t0025 a0002c0013t0002 a0002c0015t0024 a0002c0016t0002 a0005c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(172): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0016g0141 a0001c0001t0021g0187 a0001c0004t0001g0117 a0001c0004t0001g0148 a0001c0004t0009g0065 a0001c0004t0009g0139 a0001c0005t0004g0069 a0001c0005t0004g0116 a0001c0005t0004g0142 a0001c0005t0004g0149 a0001c0005t0022g0159 a0001c0012t0001g0044 a0002c0002t0002g0189 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0224 a0002c0002t0002g0227 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0242 a0002c0002t0013g0245 a0002c0002t0013g0246 a0002c0002t0025g0218 a0002c0013t0002g0225 a0002c0015t0024g0239 a0002c0016t0002g0197 a0005c0011t0001g0064	175	246	0.7114	14	c.198 others(31): Show c.1988+565_1988+578dupAAAGCGGGGCTGGA	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	9/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34182497	T T	TGGGGGGG others(7): Show TGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02602.hp1 HG02602.hp2 others(1): Show HG01891.hp2 HG02602.hp1 HG02602.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0001 a0001c0001t0003 a0001c0001t0021	a0001c0001t0001g0049 a0001c0001t0001g0136 a0001c0001t0003g0171 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0136 a0001c0001t0003g0171 a0001c0001t0021g0187	4	246	0.0163	14	c.124 others(33): Show c.1245-9191_1245-9190insCCCCCCCCCCCCCC	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	3/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34214137	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03195.hp1 HG02723.hp2 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0008 a0003c0003 a0003c0008	a0003c0003t0001 a0003c0008t0014 a0003c0003t0001 a0003c0008t0014	a0003c0003t0001g0137 a0003c0008t0014g0022 a0003c0003t0001g0137 a0003c0008t0014g0022	2	246	0.0081	14	c.884 others(31): Show c.884-9448_884-9447insGTGTGTGTGTGTGT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34214139	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02451.hp1 HG02559.hp2 others(3): Show HG00544.hp2 HG02451.hp1 HG02559.hp2 HG03041.hp1 HG03130.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0015 a0001c0001 a0002c0002 a0002c0015	a0001c0001t0001 a0002c0002t0026 a0002c0015t0024 a0001c0001t0001 a0002c0002t0026 a0002c0015t0024	a0001c0001t0001g0046 a0001c0001t0001g0076 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0076 a0001c0001t0001g0140 a0001c0001t0001g0151 a0002c0002t0026g0243 a0002c0015t0024g0239	6	246	0.0244	14	c.884 others(31): Show c.884-9463_884-9450dupGTGTGTGTGTGTGT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34260923	G G	GCCAGGAG others(7): Show GCCAGGAGCTCGAGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG01070.hp1 others(83): Show HG00621.hp2 HG00642.hp1 HG01070.hp1 HG01074.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG04184.hp1 NA18522.hp1 NA18944.hp2 NA18962.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18992.hp1 NA18994.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0002c0019 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0005t0004 a0001c0005t0022 a0002c0002t0002 a0002c0002t0011 a0002c0002t0026 a0002c0019t0027 a0003c0003t0006 a0003c0003t0008 a0003c0003t0010 a0004c0006t0002 a0004c0006t0012	a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0029 others(83): Show a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0003g0163 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0186 a0001c0001t0005g0018 a0001c0001t0005g0071 a0001c0001t0006g0020 a0001c0001t0007g0039 a0001c0001t0015g0157 a0001c0001t0020g0160 a0001c0001t0023g0188 a0001c0004t0001g0101 a0001c0004t0001g0117 a0001c0004t0001g0135 a0001c0004t0001g0148 a0001c0004t0003g0175 a0001c0004t0009g0065 a0001c0005t0004g0069 a0001c0005t0004g0116 a0001c0005t0004g0142 a0001c0005t0022g0159 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0206 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0011g0241 a0002c0002t0026g0243 a0002c0019t0027g0228 a0003c0003t0006g0094 a0003c0003t0008g0150 a0003c0003t0008g0155 a0003c0003t0010g0161 a0004c0006t0002g0229 a0004c0006t0012g0244	86	246	0.3496	14	c.884 others(33): Show c.884-56234_884-56233insTCTCGAGCTCCTGG	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34274158	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0187 a0001c0001t0021g0187	1	246	0.0041	14	c.884 others(33): Show c.884-69482_884-69469dupTTTTTTTTTTTTTT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107335286	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0031 a0001c0011t0031	a0001c0011t0031g0075 a0001c0011t0031g0075	1	186	0.0054	14	c.113 others(35): Show c.1135+15238_1135+15251dupAAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107386890	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	186	0.0054	14	c.113 others(35): Show c.1135+66836_1135+66849dupGTGTGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107389866	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp1 HG02280.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0004 a0001c0012t0001 a0001c0001t0004 a0001c0012t0001	a0001c0001t0004g0046 a0001c0012t0001g0047 a0001c0001t0004g0046 a0001c0012t0001g0047	2	186	0.0108	14	c.113 others(35): Show c.1135+69804_1135+69805insTTGTGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107441774	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0001 a0013c0024t0001	a0013c0024t0001g0019 a0013c0024t0001g0019	1	186	0.0054	14	c.113 others(35): Show c.1136-78709_1136-78696dupAAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107445863	T T	TCCCTCTC others(7): Show TCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp2 HG01361.hp1 others(24): Show HG00621.hp2 HG01074.hp2 HG01361.hp1 HG01496.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02451.hp1 HG02735.hp2 HG03710.hp2 HG03834.hp2 HG04204.hp1 NA18747.hp1 NA18942.hp1 NA18964.hp1 NA18979.hp1 NA18982.hp2 NA19070.hp2 NA19087.hp1 NA19087.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0001c0003 a0002c0002 others(9): Show a0001c0001 a0001c0003 a0002c0002 a0002c0009 a0002c0018 a0002c0031 a0002c0033 a0003c0004 a0003c0006 a0003c0029 a0005c0007 a0009c0034	a0001c0001t0004 a0001c0003t0002 a0001c0003t0005 others(16): Show a0001c0001t0004 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0035 a0002c0002t0001 a0002c0002t0004 a0002c0002t0010 a0002c0002t0012 a0002c0002t0018 a0002c0009t0003 a0002c0018t0020 a0002c0031t0003 a0002c0033t0001 a0003c0004t0003 a0003c0006t0005 a0003c0029t0002 a0005c0007t0001 a0009c0034t0003	a0001c0001t0004g0031 a0001c0001t0004g0033 a0001c0003t0002g0134 others(24): Show a0001c0001t0004g0031 a0001c0001t0004g0033 a0001c0003t0002g0134 a0001c0003t0002g0138 a0001c0003t0005g0136 a0001c0003t0006g0140 a0001c0003t0006g0148 a0001c0003t0035g0142 a0002c0002t0001g0109 a0002c0002t0001g0118 a0002c0002t0004g0114 a0002c0002t0004g0127 a0002c0002t0010g0181 a0002c0002t0010g0182 a0002c0002t0012g0180 a0002c0002t0018g0183 a0002c0009t0003g0064 a0002c0009t0003g0065 a0002c0018t0020g0168 a0002c0031t0003g0066 a0002c0033t0001g0068 a0003c0004t0003g0038 a0003c0006t0005g0137 a0003c0006t0005g0149 a0003c0029t0002g0131 a0005c0007t0001g0122 a0009c0034t0003g0070	27	186	0.1452	14	c.113 others(35): Show c.1136-74593_1136-74580dupCTCTCCCCTCTCCC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469865	C C	CTTTTCTT others(7): Show CTTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0102 a0001c0001t0006g0102	1	186	0.0054	14	c.113 others(35): Show c.1136-50619_1136-50606dupTTCTTTCTTTCTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107481883	G G	GTCTCTCT others(7): Show GTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01433.hp1 HG01433.hp2 others(8): Show HG00621.hp2 HG01433.hp1 HG01433.hp2 HG02155.hp1 HG02257.hp1 HG02922.hp1 HG03041.hp1 HG03834.hp2 NA18954.hp1 NA18964.hp1 NA19002.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0009	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0008 a0005c0016 a0007c0010 a0009c0034	a0001c0001t0001 a0001c0001t0002 a0001c0003t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0006 a0002c0002t0004 a0002c0002t0010 a0002c0002t0012 a0003c0008t0001 a0003c0008t0002 a0005c0016t0003 a0007c0010t0005 a0009c0034t0003	a0001c0001t0001g0010 a0001c0001t0002g0086 a0001c0003t0006g0147 others(8): Show a0001c0001t0001g0010 a0001c0001t0002g0086 a0001c0003t0006g0147 a0002c0002t0004g0127 a0002c0002t0010g0181 a0002c0002t0012g0180 a0003c0008t0001g0049 a0003c0008t0002g0092 a0005c0016t0003g0063 a0007c0010t0005g0090 a0009c0034t0003g0070	11	186	0.0591	14	c.113 others(35): Show c.1136-38572_1136-38559dupCTCTCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107508438	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18981.hp2 NA19065.hp1 HG02647.hp1 NA18981.hp2 NA19065.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0026 a0001c0001 a0002c0002 a0011c0026	a0001c0001t0001 a0002c0002t0025 a0011c0026t0001 a0001c0001t0001 a0002c0002t0025 a0011c0026t0001	a0001c0001t0001g0037 a0002c0002t0025g0164 a0011c0026t0001g0036 a0001c0001t0001g0037 a0002c0002t0025g0164 a0011c0026t0001g0036	3	186	0.0161	14	c.113 others(35): Show c.1136-12032_1136-12019dupTTTTTTTTTTTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107521263	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0095 a0001c0003t0002g0095	1	186	0.0054	14	c.128 others(31): Show c.1285+655_1285+668dupGTGTGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107525324	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	186	0.0054	14	c.128 others(33): Show c.1285+4701_1285+4714dupAAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107542311	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18747.hp2 NA18946.hp2 HG01993.hp1 NA18747.hp2 NA18946.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0003c0006 a0005c0007 a0003c0004 a0003c0006 a0005c0007	a0003c0004t0004 a0003c0006t0005 a0005c0007t0007 a0003c0004t0004 a0003c0006t0005 a0005c0007t0007	a0003c0004t0004g0003 a0003c0006t0005g0130 a0005c0007t0007g0169 a0003c0004t0004g0003 a0003c0006t0005g0130 a0005c0007t0007g0169	3	186	0.0161	14	c.128 others(33): Show c.1286-1623_1286-1610dupAAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107545233	T T	TTATTTTT others(7): Show TTATTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01257.hp1 HG01257.hp2	a0002 a0004 a0002 a0004	a0002c0009 a0004c0005 a0002c0009 a0004c0005	a0002c0009t0001 a0004c0005t0008 a0002c0009t0001 a0004c0005t0008	a0002c0009t0001g0067 a0004c0005t0008g0009 a0002c0009t0001g0067 a0004c0005t0008g0009	2	186	0.0108	14	c.149 others(33): Show c.1490+1095_1490+1096insATTTTTCTTTTTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107564090	C C	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0008 a0006c0014t0008	a0006c0014t0008g0126 a0006c0014t0008g0126	1	186	0.0054	14	c.149 others(35): Show c.1491-17061_1491-17060insCTGTGTGTGTGTGT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107566648	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0162 a0007c0010t0003g0162	1	186	0.0054	14	c.149 others(35): Show c.1491-14480_1491-14467dupCACACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107566680	C C	CACACACA others(7): Show CACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 HG01169.hp1 others(7): Show HG01081.hp1 HG01168.hp2 HG01169.hp1 HG02257.hp1 HG02615.hp1 HG02809.hp2 HG02970.hp2 HG03041.hp1 HG03225.hp1 HG03453.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0018	a0001c0012 a0003c0004 a0003c0008 others(2): Show a0001c0012 a0003c0004 a0003c0008 a0007c0010 a0018c0027	a0001c0012t0027 a0003c0004t0001 a0003c0004t0002 others(4): Show a0001c0012t0027 a0003c0004t0001 a0003c0004t0002 a0003c0004t0011 a0003c0008t0001 a0007c0010t0005 a0018c0027t0001	a0001c0012t0027g0023 a0003c0004t0001g0022 a0003c0004t0001g0024 others(7): Show a0001c0012t0027g0023 a0003c0004t0001g0022 a0003c0004t0001g0024 a0003c0004t0002g0076 a0003c0004t0011g0155 a0003c0008t0001g0021 a0003c0008t0001g0049 a0003c0008t0001g0052 a0007c0010t0005g0090 a0018c0027t0001g0045	10	186	0.0538	14	c.149 others(35): Show c.1491-14467_1491-14466insCACACACAAACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107648380	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02056.hp1 HG02155.hp1 others(4): Show HG01978.hp1 HG02056.hp1 HG02155.hp1 HG02155.hp2 HG03041.hp2 HG03710.hp1 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0011 others(3): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0003c0006 a0004c0005	a0001c0001t0003 a0001c0001t0021 a0001c0003t0005 others(4): Show a0001c0001t0003 a0001c0001t0021 a0001c0003t0005 a0001c0011t0031 a0002c0002t0010 a0003c0006t0005 a0004c0005t0009	a0001c0001t0003g0015 a0001c0001t0021g0025 a0001c0003t0005g0143 others(4): Show a0001c0001t0003g0015 a0001c0001t0021g0025 a0001c0003t0005g0143 a0001c0011t0031g0075 a0002c0002t0010g0181 a0003c0006t0005g0137 a0004c0005t0009g0107	7	186	0.0376	14	c.292 others(31): Show c.2923-805_2923-792dupCACACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107654815	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG03471.hp2 others(1): Show HG02257.hp1 HG02723.hp1 HG03471.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0002 a0003c0008t0001 a0001c0001t0002 a0003c0008t0001	a0001c0001t0002g0082 a0001c0001t0002g0093 a0001c0001t0002g0106 others(1): Show a0001c0001t0002g0082 a0001c0001t0002g0093 a0001c0001t0002g0106 a0003c0008t0001g0049	4	186	0.0215	14	c.310 others(33): Show c.3106-2662_3106-2649dupCACACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107654828	A A	ACACACAC others(7): Show ACACACACACACACG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03225.hp2 HG03453.hp2	a0006 a0006	a0006c0014 a0006c0032 a0006c0014 a0006c0032	a0006c0014t0008 a0006c0032t0008 a0006c0014t0008 a0006c0032t0008	a0006c0014t0008g0126 a0006c0032t0008g0160 a0006c0014t0008g0126 a0006c0032t0008g0160	2	186	0.0108	14	c.310 others(33): Show c.3106-2668_3106-2667insGCACACACACACAC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107655256	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0164 a0002c0002t0025g0164	1	186	0.0054	14	c.310 others(33): Show c.3106-2247_3106-2234dupTATATATATATATA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAA2_chr18_49777164_49818533	49801785	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp2 others(34): Show HG00423.hp1 HG00438.hp2 HG00597.hp2 HG01069.hp2 HG01071.hp1 HG01256.hp1 HG01258.hp1 HG01934.hp2 HG01981.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02698.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03540.hp2 HG03579.hp1 HG04204.hp1 NA18906.hp2 NA18940.hp2 NA18949.hp2 NA18960.hp1 NA18964.hp1 NA18969.hp1 NA18982.hp2 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp1 NA19075.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0018 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0190 a0001c0001t0001g0343 a0001c0001t0008g0219 a0001c0001t0012g0151 a0001c0001t0016g0017 a0001c0003t0001g0092 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0107 a0002c0002t0001g0114 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0136	37	434	0.0853	14	c.183 others(29): Show c.183+888_183+901dupATATATATATATAT	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACAA2_chr18_49777164_49818533	49801814	A A	ATATATAT others(7): Show ATATATATATATCTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0202 a0001c0001t0031g0202	1	434	0.0023	14	c.183 others(29): Show c.183+872_183+873insGAGATATATATATA	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar

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