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
CACNB2_chr10_18135424_18548557	18220232	T T	TATATATA others(5): Show TATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02451.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0008 a0001c0001t0019	a0001c0001t0008g0083 a0001c0001t0019g0126 a0001c0001t0008g0083 a0001c0001t0019g0126	2	200	0.0100	12	c.213 others(31): Show c.213+69258_213+69259insTATATATAGAGA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18228433	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01943.hp1 HG02258.hp1 others(6): Show HG00738.hp1 HG01943.hp1 HG02258.hp1 HG02572.hp1 HG02615.hp2 NA18973.hp1 NA18973.hp2 NA19082.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0003 a0001c0001t0006 a0001c0001t0046 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0046 a0001c0001t0048 a0001c0002t0005 a0001c0002t0017 a0001c0004t0010 a0001c0005t0022	a0001c0001t0003g0047 a0001c0001t0003g0193 a0001c0001t0006g0017 others(6): Show a0001c0001t0003g0047 a0001c0001t0003g0193 a0001c0001t0006g0017 a0001c0001t0046g0102 a0001c0001t0048g0195 a0001c0002t0005g0200 a0001c0002t0017g0164 a0001c0004t0010g0122 a0001c0005t0022g0090	9	200	0.0450	12	c.213 others(31): Show c.213+77463_213+77474dupAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18288676	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01243.hp1 HG01496.hp1 others(12): Show HG00423.hp1 HG01243.hp1 HG01496.hp1 HG01891.hp2 HG02145.hp2 HG02280.hp2 HG02615.hp2 HG02622.hp2 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03491.hp1 HG03540.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0033 a0001c0001t0039 a0001c0001t0055 a0001c0002t0002 a0001c0002t0005 a0001c0006t0049 a0002c0003t0014	a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0006g0017 others(12): Show a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0006g0017 a0001c0001t0011g0029 a0001c0001t0016g0181 a0001c0001t0033g0130 a0001c0001t0039g0062 a0001c0001t0055g0170 a0001c0002t0002g0050 a0001c0002t0002g0092 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0005g0118 a0001c0006t0049g0076 a0002c0003t0014g0111	15	200	0.0750	12	c.214 others(33): Show c.214-113230_214-113219dupCACACACACACA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18307983	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 NA19084.hp1 HG02451.hp1 HG03195.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0015 a0001c0002t0002 a0001c0002t0005 a0001c0002t0015	a0001c0002t0002g0146 a0001c0002t0005g0097 a0001c0002t0015g0020 a0001c0002t0002g0146 a0001c0002t0005g0097 a0001c0002t0015g0020	3	200	0.0150	12	c.214 others(31): Show c.214-93925_214-93914dupTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18325689	C C	CCCTCCCT others(5): Show CCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0003 a0001c0001t0012g0003	1	200	0.0050	12	c.214 others(31): Show c.214-76232_214-76231insCCCTCCCTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18358497	G G	GCTCTCTC others(5): Show GCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18952.hp2 NA18973.hp1 HG03471.hp1 NA18952.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0002t0005 a0001c0001t0004 a0001c0001t0008 a0001c0002t0005	a0001c0001t0004g0163 a0001c0001t0008g0180 a0001c0002t0005g0200 a0001c0001t0004g0163 a0001c0001t0008g0180 a0001c0002t0005g0200	3	200	0.0150	12	c.214 others(31): Show c.214-43383_214-43372dupTCTCTCTCTCTC	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18407109	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01361.hp2 HG01993.hp2 others(7): Show HG01169.hp2 HG01361.hp2 HG01993.hp2 HG02083.hp2 HG02886.hp1 HG04199.hp1 NA18981.hp1 NA19070.hp1 NA19091.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 a0001c0002t0002 a0001c0002t0005 a0002c0003t0025	a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0132 others(7): Show a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0003g0095 a0001c0001t0003g0136 a0001c0001t0031g0056 a0001c0002t0002g0042 a0001c0002t0002g0059 a0001c0002t0005g0137 a0002c0003t0025g0012	10	200	0.0500	12	c.333 others(29): Show c.333+5086_333+5097dupTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0120 a0001c0001t0032g0120	1	200	0.0050	12	c.334 others(31): Show c.334-33926_334-33915dupAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18495591	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	200	0.0050	12	c.334 others(29): Show c.334-2763_334-2762insGTGTGTGTGTAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18536243	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp2 NA19030.hp1 HG02970.hp2 HG03041.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0002c0003t0024 a0001c0001t0006 a0002c0003t0024	a0001c0001t0006g0134 a0001c0001t0006g0174 a0002c0003t0024g0141 a0001c0001t0006g0134 a0001c0001t0006g0174 a0002c0003t0024g0141	3	200	0.0150	12	c.130 others(27): Show c.1302+66_1302+77dupTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18358497	G G	GCTCTCTC others(5): Show GCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03471.hp1 NA18952.hp1 others(1): Show HG01515.hp1 HG03471.hp1 NA18952.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0004	a0001c0001t0001g0173 a0001c0001t0003g0060 a0001c0001t0007g0003 others(1): Show a0001c0001t0001g0173 a0001c0001t0003g0060 a0001c0001t0007g0003 a0001c0002t0004g0070	4	302	0.0133	12	c.51+ others(29): Show c.51+17564_51+17575dupTCTCTCTCTCTC	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18407109	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp1 HG01256.hp1 others(21): Show HG00140.hp2 HG01169.hp1 HG01256.hp1 HG01361.hp1 HG01515.hp2 HG01928.hp2 HG01993.hp1 HG02083.hp1 HG02698.hp2 HG02738.hp1 HG02886.hp2 HG04184.hp2 HG04199.hp1 NA18945.hp1 NA18975.hp2 NA18981.hp2 NA18986.hp1 NA19007.hp1 NA19058.hp1 NA19067.hp1 NA19070.hp2 NA19079.hp1 NA19091.hp2 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0019 a0001c0001t0057 a0001c0002t0002 a0001c0002t0004 a0001c0002t0039 a0001c0002t0043 a0001c0002t0046 a0002c0003t0009 a0004c0006t0002	a0001c0001t0001g0074 a0001c0001t0001g0142 a0001c0001t0001g0169 others(21): Show a0001c0001t0001g0074 a0001c0001t0001g0142 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0192 a0001c0001t0001g0281 a0001c0001t0003g0206 a0001c0001t0003g0244 a0001c0001t0003g0253 a0001c0001t0003g0268 a0001c0001t0014g0122 a0001c0001t0019g0116 a0001c0001t0057g0088 a0001c0002t0002g0072 a0001c0002t0002g0270 a0001c0002t0004g0044 a0001c0002t0004g0147 a0001c0002t0004g0227 a0001c0002t0039g0124 a0001c0002t0043g0222 a0001c0002t0046g0069 a0002c0003t0009g0013 a0002c0003t0009g0258 a0004c0006t0002g0170	24	302	0.0795	12	c.171 others(29): Show c.171+5086_171+5097dupTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0231 a0001c0001t0062g0231	1	302	0.0033	12	c.172 others(31): Show c.172-33926_172-33915dupAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAATAA others(5): Show TAAAATAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0159 a0001c0002t0002g0159	1	302	0.0033	12	c.172 others(31): Show c.172-33933_172-33932insTAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481192	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	302	0.0033	12	c.172 others(31): Show c.172-17135_172-17124dupATATATATATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18495591	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	302	0.0033	12	c.172 others(29): Show c.172-2763_172-2762insGTGTGTGTGTAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536243	C C	CTTTTCTT others(5): Show CTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0240 a0003c0007t0002g0240	1	302	0.0033	12	c.114 others(27): Show c.1140+51_1140+52insCTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536243	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp1 NA18986.hp1 others(1): Show HG02970.hp1 HG03041.hp1 NA18986.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0019 a0002c0003t0023 a0001c0001t0005 a0001c0001t0019 a0002c0003t0023	a0001c0001t0005g0065 a0001c0001t0005g0103 a0001c0001t0019g0116 others(1): Show a0001c0001t0005g0065 a0001c0001t0005g0103 a0001c0001t0019g0116 a0002c0003t0023g0292	4	302	0.0133	12	c.114 others(27): Show c.1140+66_1140+77dupTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB4_chr2_151827771_152104044	151861842	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG01257.hp1 others(23): Show HG00280.hp2 HG00558.hp1 HG01257.hp1 HG01258.hp1 HG02015.hp1 HG02071.hp1 HG02083.hp2 HG02148.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp1 HG03041.hp2 HG03491.hp2 HG03540.hp1 HG03710.hp1 HG06807.hp1 NA18941.hp1 NA18964.hp1 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0003 a0001c0002t0028 others(2): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0028 a0001c0002t0034 a0001c0003t0008	a0001c0002t0002g0002 a0001c0002t0002g0040 a0001c0002t0002g0065 others(23): Show a0001c0002t0002g0002 a0001c0002t0002g0040 a0001c0002t0002g0065 a0001c0002t0002g0069 a0001c0002t0002g0076 a0001c0002t0002g0174 a0001c0002t0002g0180 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0215 a0001c0002t0002g0217 a0001c0002t0002g0221 a0001c0002t0003g0055 a0001c0002t0003g0096 a0001c0002t0003g0112 a0001c0002t0003g0119 a0001c0002t0003g0124 a0001c0002t0003g0155 a0001c0002t0003g0170 a0001c0002t0003g0178 a0001c0002t0003g0183 a0001c0002t0003g0186 a0001c0002t0028g0003 a0001c0002t0034g0045 a0001c0003t0008g0219	26	230	0.1130	12	c.759 others(29): Show c.759-1034_759-1023dupTTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	9/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151878550	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp1 HG01256.hp2 others(10): Show HG00140.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG02683.hp2 HG02896.hp2 HG02965.hp1 HG03453.hp1 HG03710.hp2 HG04115.hp2 NA19043.hp1 NA19065.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0003t0016 a0001c0003t0019	a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0037 others(10): Show a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0005g0004 a0001c0001t0007g0015 a0001c0001t0013g0228 a0001c0001t0014g0034 a0001c0001t0015g0016 a0001c0001t0025g0204 a0001c0003t0016g0005 a0001c0003t0019g0087	13	230	0.0565	12	c.391 others(29): Show c.391-2006_391-1995dupGTGTGTGTGTGT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	4/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151882131	G G	GGCCTCCC others(5): Show GGCCTCCCAAAGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(41): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG02015.hp2 HG02056.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp2 HG02683.hp2 HG02735.hp1 HG03239.hp2 HG03491.hp1 HG03669.hp2 HG03710.hp2 HG04115.hp2 HG04204.hp2 NA18945.hp2 NA18960.hp1 NA18982.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19055.hp2 NA19065.hp1 NA19079.hp1 NA19082.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0039 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 others(41): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0004g0189 a0001c0001t0009g0056 a0001c0001t0010g0136 a0001c0001t0013g0228 a0001c0001t0014g0028 a0001c0001t0014g0034 a0001c0001t0014g0116 a0001c0001t0020g0043 a0001c0001t0020g0048 a0001c0001t0022g0041 a0001c0001t0039g0205 a0001c0002t0002g0065 a0001c0002t0003g0022	44	230	0.1913	12	c.267 others(29): Show c.267+1108_267+1119dupACTTTGGGAGGC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	3/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151886851	T T	TTGAAAGG others(5): Show TTGAAAGGGAGTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp1 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0019 a0001c0006t0044 a0001c0005t0019 a0001c0006t0044	a0001c0005t0019g0199 a0001c0006t0044g0033 a0001c0005t0019g0199 a0001c0006t0044g0033	2	230	0.0087	12	c.148 others(29): Show c.148-3482_148-3481insTACTCCCTTTCA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151957257	C C	CGTGTATG others(5): Show CGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00609.hp2 others(21): Show HG00140.hp1 HG00558.hp1 HG00609.hp2 HG01109.hp1 HG01175.hp1 HG02056.hp1 HG02056.hp2 HG02559.hp1 HG02630.hp2 HG02683.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03669.hp2 NA18942.hp1 NA18969.hp2 NA18985.hp1 NA19060.hp2 NA19067.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0030 a0001c0001t0031 a0001c0002t0003 a0002c0004t0035	a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0068 others(21): Show a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0068 a0001c0001t0001g0104 a0001c0001t0001g0194 a0001c0001t0001g0207 a0001c0001t0004g0075 a0001c0001t0005g0024 a0001c0001t0006g0021 a0001c0001t0006g0072 a0001c0001t0007g0015 a0001c0001t0007g0197 a0001c0001t0007g0206 a0001c0001t0007g0210 a0001c0001t0009g0009 a0001c0001t0010g0109 a0001c0001t0013g0091 a0001c0001t0014g0034 a0001c0001t0015g0047 a0001c0001t0030g0074 a0001c0001t0031g0083 a0001c0002t0003g0055 a0001c0002t0003g0093 a0002c0004t0035g0084	24	230	0.1044	12	c.148 others(31): Show c.148-73888_148-73887insACACACATACAC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151957257	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19240.hp1 NA18942.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0226 a0001c0002t0002g0162 a0001c0001t0006g0226 a0001c0002t0002g0162	2	230	0.0087	12	c.148 others(31): Show c.148-73899_148-73888dupACACACACACAC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151983675	T T	TCTCACAC others(5): Show TCTCACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG02055.hp2 others(6): Show HG00323.hp2 HG00609.hp2 HG02055.hp2 HG02056.hp1 HG03239.hp1 HG04115.hp2 NA18960.hp1 NA18982.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0002t0003	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0058 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0009g0056 a0001c0001t0012g0062 a0001c0001t0018g0046 a0001c0002t0003g0093	9	230	0.0391	12	c.148 others(33): Show c.148-100306_148-100305insTGTGTGTGTGAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152018804	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0005 a0001c0003t0016g0005	1	230	0.0044	12	c.147 others(31): Show c.147+79525_147+79526insGTGTGTGTGTGT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152018806	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02148.hp1 NA18941.hp1 others(7): Show HG02056.hp2 HG02148.hp1 NA18941.hp1 NA18964.hp2 NA18974.hp2 NA18983.hp1 NA18990.hp1 NA19057.hp2 NA19065.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0024 a0001c0001t0042 a0001c0002t0003	a0001c0001t0001g0103 a0001c0001t0001g0165 a0001c0001t0010g0109 others(7): Show a0001c0001t0001g0103 a0001c0001t0001g0165 a0001c0001t0010g0109 a0001c0001t0010g0122 a0001c0001t0012g0167 a0001c0001t0012g0193 a0001c0001t0012g0195 a0001c0001t0024g0227 a0001c0001t0042g0168 a0001c0002t0003g0170	10	230	0.0435	12	c.147 others(31): Show c.147+79512_147+79523dupGTGTGTGTGTGT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152035630	C C	CCTCTCTC others(5): Show CCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	230	0.0044	12	c.147 others(31): Show c.147+62688_147+62699dupAGAGAGAGAGAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152035651	C C	CTCTCTCT others(5): Show CTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0151 a0001c0003t0008g0151	1	230	0.0044	12	c.147 others(31): Show c.147+62678_147+62679insTATATAGAGAGA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152035651	C C	CTCTCTCT others(5): Show CTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG02683.hp1 HG00735.hp2 HG01175.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0008 a0001c0001t0007 a0001c0003t0008	a0001c0001t0007g0015 a0001c0003t0008g0099 a0001c0003t0008g0101 a0001c0001t0007g0015 a0001c0003t0008g0099 a0001c0003t0008g0101	3	230	0.0130	12	c.147 others(31): Show c.147+62678_147+62679insTATAGAGAGAGA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152035651	C C	CTCTCTCT others(5): Show CTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01257.hp2 HG01358.hp1 others(1): Show HG01123.hp2 HG01257.hp2 HG01358.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0008 a0001c0001t0009 a0001c0003t0008	a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0017 others(1): Show a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0017 a0001c0003t0008g0100	4	230	0.0174	12	c.147 others(31): Show c.147+62678_147+62679insTAGAGAGAGAGA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152062013	A A	AAATAATA others(5): Show AAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00738.hp2 others(55): Show HG00323.hp1 HG00642.hp2 HG00738.hp2 HG01109.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02486.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02965.hp2 HG03453.hp2 HG03491.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18981.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19060.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19086.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0001t0036 a0001c0001t0039 a0001c0002t0002 a0001c0002t0003 a0001c0002t0023 a0001c0002t0028 a0001c0002t0040 a0001c0002t0041 a0001c0003t0026 a0001c0003t0027	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(55): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0002g0156 a0001c0001t0004g0107 a0001c0001t0004g0128 a0001c0001t0004g0153 a0001c0001t0004g0164 a0001c0001t0004g0177 a0001c0001t0004g0189 a0001c0001t0004g0192 a0001c0001t0005g0004 a0001c0001t0005g0141 a0001c0001t0006g0008 a0001c0001t0007g0006 a0001c0001t0007g0011 a0001c0001t0007g0120 a0001c0001t0007g0197 a0001c0001t0007g0210 a0001c0001t0010g0109 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0230 a0001c0001t0011g0157 a0001c0001t0013g0191 a0001c0001t0017g0097 a0001c0001t0021g0150 a0001c0001t0025g0204 a0001c0001t0036g0213 a0001c0001t0039g0205 a0001c0002t0002g0002 a0001c0002t0002g0174 a0001c0002t0002g0180 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0003g0096 a0001c0002t0003g0112 a0001c0002t0003g0119 a0001c0002t0003g0137 a0001c0002t0003g0160 a0001c0002t0003g0186 a0001c0002t0023g0176 a0001c0002t0028g0003 a0001c0002t0040g0166 a0001c0002t0041g0172 a0001c0003t0026g0032 a0001c0003t0027g0129	58	230	0.2522	12	c.147 others(31): Show c.147+36305_147+36316dupATTATTATTATT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152088140	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0157 a0001c0001t0011g0157	1	230	0.0044	12	c.147 others(31): Show c.147+10178_147+10189dupGTGTGTGTGTGT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152093400	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01978.hp2 HG02280.hp1 others(8): Show HG00642.hp2 HG01978.hp2 HG02280.hp1 HG02965.hp2 HG03491.hp1 NA18942.hp1 NA18964.hp1 NA19060.hp2 NA19067.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0025 a0001c0001t0039 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0158 a0001c0001t0006g0225 a0001c0001t0006g0226 others(8): Show a0001c0001t0001g0158 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0007g0197 a0001c0001t0007g0206 a0001c0001t0011g0157 a0001c0001t0025g0204 a0001c0001t0039g0205 a0001c0002t0002g0002 a0001c0002t0003g0159 a0001c0002t0003g0160	11	230	0.0478	12	c.147 others(29): Show c.147+4918_147+4929dupACACACACACAC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG2_chr22_36555857_36708752	36625026	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp2 HG01516.hp2 others(14): Show HG00741.hp2 HG01192.hp2 HG01516.hp2 HG01884.hp2 HG02083.hp2 HG02258.hp1 HG02280.hp1 HG02717.hp1 HG02897.hp2 HG02976.hp1 HG03225.hp2 HG03471.hp2 HG04199.hp1 NA18906.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0053 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0072 a0001c0001t0080 a0001c0001t0086 a0001c0001t0104	a0001c0001t0001g0066 a0001c0001t0006g0153 a0001c0001t0011g0098 others(14): Show a0001c0001t0001g0066 a0001c0001t0006g0153 a0001c0001t0011g0098 a0001c0001t0012g0173 a0001c0001t0019g0034 a0001c0001t0035g0073 a0001c0001t0041g0010 a0001c0001t0042g0006 a0001c0001t0053g0099 a0001c0001t0060g0112 a0001c0001t0063g0116 a0001c0001t0064g0128 a0001c0001t0066g0133 a0001c0001t0072g0148 a0001c0001t0080g0147 a0001c0001t0086g0195 a0001c0001t0104g0203	17	214	0.0794	12	c.212 others(31): Show c.212-37490_212-37479dupTTTTTTTTTTTT	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36625035	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0194 a0001c0001t0090g0194	1	214	0.0047	12	c.212 others(31): Show c.212-37488_212-37487insCTTTTTTTTTTT	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36643474	G G	GTCTGTCT others(5): Show GTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0205 a0001c0001t0102g0205	1	214	0.0047	12	c.212 others(31): Show c.212-55927_212-55926insTAGATAGACAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36645536	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0149 a0001c0001t0012g0149	1	214	0.0047	12	c.211 others(31): Show c.211+56818_211+56829dupTTTTTTTTTTTT	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36676932	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01496.hp1 others(13): Show HG00741.hp2 HG01175.hp2 HG01496.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG03130.hp2 HG03471.hp1 HG03579.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0019 others(13): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0019 a0001c0001t0035 a0001c0001t0048 a0001c0001t0049 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0062 a0001c0001t0065 a0001c0001t0089 a0001c0001t0092 a0001c0001t0095	a0001c0001t0001g0066 a0001c0001t0010g0060 a0001c0001t0019g0034 others(13): Show a0001c0001t0001g0066 a0001c0001t0010g0060 a0001c0001t0019g0034 a0001c0001t0035g0073 a0001c0001t0048g0013 a0001c0001t0049g0094 a0001c0001t0053g0099 a0001c0001t0055g0106 a0001c0001t0056g0105 a0001c0001t0057g0107 a0001c0001t0059g0109 a0001c0001t0062g0130 a0001c0001t0065g0117 a0001c0001t0089g0191 a0001c0001t0092g0190 a0001c0001t0095g0192	16	214	0.0748	12	c.211 others(31): Show c.211+25422_211+25433dupCACACACACACA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36679189	C C	CCTTTCTT others(5): Show CCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG01884.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0066 a0001c0001t0012 a0001c0001t0066	a0001c0001t0012g0149 a0001c0001t0066g0133 a0001c0001t0012g0149 a0001c0001t0066g0133	2	214	0.0094	12	c.211 others(31): Show c.211+23176_211+23177insAAAGAAAGAAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36679197	C C	CCTTCCTT others(5): Show CCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0146 a0001c0001t0012g0146	1	214	0.0047	12	c.211 others(31): Show c.211+23168_211+23169insAAAGAAAGGAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36679197	C C	CCTTTCTT others(5): Show CCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0213 a0001c0001t0112g0213	1	214	0.0047	12	c.211 others(31): Show c.211+23157_211+23168dupAAAGAAAGAAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(5): Show GCTCGCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0099 a0001c0001t0053g0099	1	214	0.0047	12	c.-11 others(23): Show c.-1185_-1184insAGAGAGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCTCTC others(5): Show GCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0211 a0001c0001t0109g0211	1	214	0.0047	12	c.-11 others(23): Show c.-1185_-1184insAGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703826	T T	TCTCTCTC others(5): Show TCTCTCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0195 a0001c0001t0086g0195	1	214	0.0047	12	c.-12 others(23): Show c.-1251_-1250insGGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		75		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706226	C C	CTCTTCTT others(5): Show CTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02004.hp2 HG02055.hp2 others(6): Show HG00639.hp2 HG02004.hp2 HG02055.hp2 HG02280.hp1 HG02280.hp2 NA18906.hp1 NA18995.hp1 NA19043.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0036 a0001c0001t0042 a0001c0001t0086 a0001c0001t0096 a0001c0001t0106	a0001c0001t0001g0082 a0001c0001t0002g0042 a0001c0001t0007g0003 others(6): Show a0001c0001t0001g0082 a0001c0001t0002g0042 a0001c0001t0007g0003 a0001c0001t0015g0007 a0001c0001t0036g0045 a0001c0001t0042g0006 a0001c0001t0086g0195 a0001c0001t0096g0185 a0001c0001t0106g0207	9	214	0.0421	12	c.-36 others(23): Show c.-3651_-3650insAGAAGAAGAAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2475		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24252666	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02129.hp2 HG03516.hp1 others(3): Show HG02056.hp2 HG02129.hp2 HG03516.hp1 NA18946.hp1 NA18997.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0221 a0001c0001t0001g0241 others(3): Show a0001c0001t0001g0209 a0001c0001t0001g0221 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0267 a0001c0001t0001g0289	6	366	0.0164	12	c.-40 others(23): Show c.-4089_-4088insTTTTTTTTTTTT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding		3668		chr16	TogoVar
CACNG3_chr16_24251335_24367412	24257368	G G	GGAGAGAG others(5): Show GGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19088.hp1 NA19080.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0017 a0001c0001t0001g0018	2	366	0.0055	12	c.211 others(27): Show c.211+452_211+463dupGAGAGAGAGAGA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24303344	G G	GTATTTAT others(5): Show GTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	366	0.0027	12	c.212 others(31): Show c.212-43375_212-43364dupTTTATTTATTTA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24312916	G G	GAAGAAAG others(5): Show GAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	366	0.0027	12	c.212 others(31): Show c.212-33815_212-33814insAAAGAAAGAAAG	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar

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