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
CAB39_chr2_230707842_230826075	230773314	A A	ATATATAT others(9): Show ATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG03195.hp1 others(1): Show HG02257.hp2 HG02486.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0048 a0001c0001t0066 a0001c0001t0020 a0001c0001t0048 a0001c0001t0066	a0001c0001t0020g0203 a0001c0001t0020g0204 a0001c0001t0048g0037 others(1): Show a0001c0001t0020g0203 a0001c0001t0020g0204 a0001c0001t0048g0037 a0001c0001t0066g0202	4	342	0.0117	16	c.114 others(35): Show c.114+13200_114+13201insATATATGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230773314	A A	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03486.hp2 HG01346.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0063 a0001c0001t0028 a0001c0001t0063	a0001c0001t0028g0028 a0001c0001t0063g0193 a0001c0001t0028g0028 a0001c0001t0063g0193	2	342	0.0059	16	c.114 others(35): Show c.114+13200_114+13201insATGTGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230773314	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0129 a0001c0001t0024g0129	1	342	0.0029	16	c.114 others(35): Show c.114+13219_114+13234dupGTGTGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0322 a0001c0001t0032g0322	1	342	0.0029	16	c.115 others(33): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230825154	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG03139.hp2 HG02486.hp2 HG02717.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0025 a0001c0001t0054 a0001c0001t0009 a0001c0001t0025 a0001c0001t0054	a0001c0001t0009g0017 a0001c0001t0025g0135 a0001c0001t0054g0137 a0001c0001t0009g0017 a0001c0001t0025g0135 a0001c0001t0054g0137	3	342	0.0088	16	c.64 others(27): Show c.6450_*6451insAAAAAAAAAAAAAAAA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4080		chr2	TogoVar
CAB39_chr2_230707842_230826075	230825704	C C	CTTTTTTC others(9): Show CTTTTTTCTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0217 a0001c0001t0006g0217	1	342	0.0029	16	c.70 others(27): Show c.7000_*7001insTTTTTTCTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4630		chr2	TogoVar
CAB39_chr2_230707842_230826075	230825704	C C	CTTTTTTT others(9): Show CTTTTTTTCTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02572.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0017 a0001c0001t0009g0018	2	342	0.0059	16	c.70 others(27): Show c.7000_*7001insTTTTTTTCTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4630		chr2	TogoVar
CAB39_chr2_230707842_230826075	230825712	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01071.hp1 others(41): Show HG00639.hp2 HG01069.hp2 HG01071.hp1 HG01256.hp1 HG01433.hp2 HG02027.hp2 HG02080.hp2 HG02129.hp2 HG02145.hp2 HG02683.hp2 HG02717.hp1 HG02965.hp1 HG03139.hp2 HG03516.hp2 HG04204.hp2 NA18943.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18983.hp2 NA18990.hp1 NA18993.hp1 NA18997.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19054.hp1 NA19065.hp1 NA19074.hp2 NA19082.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 others(10): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0025 a0001c0001t0030 a0001c0001t0047 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0069	a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 others(41): Show a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0006g0197 a0001c0001t0006g0211 a0001c0001t0006g0225 a0001c0001t0014g0025 a0001c0001t0015g0114 a0001c0001t0015g0115 a0001c0001t0015g0263 a0001c0001t0015g0335 a0001c0001t0016g0185 a0001c0001t0016g0187 a0001c0001t0019g0023 a0001c0001t0025g0135 a0001c0001t0030g0232 a0001c0001t0030g0233 a0001c0001t0047g0057 a0001c0001t0057g0116 a0001c0001t0060g0024 a0001c0001t0061g0231 a0001c0001t0069g0167	44	342	0.1287	16	c.70 others(27): Show c.7008_*7009insTTTTTTTTTTTTTTCT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4638		chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61669020	G G	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG02572.hp1 others(7): Show HG00597.hp2 HG00639.hp2 HG02572.hp1 HG03540.hp2 HG03942.hp1 NA18950.hp2 NA18988.hp1 NA19030.hp1 NA19054.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0002	a0001c0001t0001g0078 a0001c0001t0001g0352 a0001c0001t0001g0355 others(7): Show a0001c0001t0001g0078 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0004g0366 a0001c0003t0002g0310	10	374	0.0267	16	c.61- others(31): Show c.61-3599_61-3598insAAAAAAAAAAAAAAAA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011117	A A	ACACGCAC others(9): Show ACACGCACACGCACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 NA18964.hp2 NA19007.hp1 others(1): Show HG02004.hp2 NA18964.hp2 NA19007.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0132 a0002c0002t0001g0171 a0002c0002t0001g0176 others(1): Show a0001c0003t0001g0132 a0002c0002t0001g0171 a0002c0002t0001g0176 a0002c0002t0001g0214	4	268	0.0149	16	c.-32 others(25): Show c.-325_-324insCACGCACACGCACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		186		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTCTGTGT others(9): Show CTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0164 a0001c0011t0001g0164	1	268	0.0037	16	c.346 others(29): Show c.346-85_346-84insCTGTGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0160 a0002c0022t0001g0160	1	268	0.0037	16	c.346 others(29): Show c.346-42_346-27dupGTGTGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24136524	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03942.hp2 HG03831.hp2 HG03942.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0255 a0001c0008t0001g0256 a0001c0008t0001g0255 a0001c0008t0001g0256	2	268	0.0075	16	c.474 others(35): Show c.4746+2118_4746+2133dupTTTTTTTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23150207	G G	GTTTTTTG others(9): Show GTTTTTTGTTTTTTGTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0080 a0001c0001t0055g0080	1	278	0.0036	16	c.845 others(35): Show c.845+13606_845+13607insGTTTTTTGTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23174821	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03098.hp1 HG03130.hp2 others(1): Show HG02683.hp1 HG03098.hp1 HG03130.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0029 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0029 a0002c0002t0053	a0001c0001t0002g0175 a0001c0001t0003g0103 a0001c0001t0029g0277 others(1): Show a0001c0001t0002g0175 a0001c0001t0003g0103 a0001c0001t0029g0277 a0002c0002t0053g0128	4	278	0.0144	16	c.846 others(35): Show c.846-13992_846-13977dupATATATATATATATAT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23188543	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02135.hp2 others(5): Show HG01167.hp2 HG01169.hp1 HG02135.hp2 HG03098.hp1 HG03453.hp2 HG03654.hp1 HG03654.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0027 a0001c0001t0049 a0004c0008t0002	a0001c0001t0001g0067 a0001c0001t0002g0175 a0001c0001t0002g0187 others(5): Show a0001c0001t0001g0067 a0001c0001t0002g0175 a0001c0001t0002g0187 a0001c0001t0006g0043 a0001c0001t0027g0069 a0001c0001t0049g0242 a0004c0008t0002g0185 a0004c0008t0002g0186	8	278	0.0288	16	c.846 others(31): Show c.846-287_846-272dupGTGTGTGTGTGTGTGT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABP2_chr11_67513912_67528446	67527054	C C	CTTGGTGT others(9): Show CTTGGTGTATGATTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	374	0.0027	16	c.-37 others(27): Show c.-3729_-3728insCAAAATCATACACCAA	CABP2	ENSG00000167791.14	transcript	ENST00000294288.5	protein_coding		3609		chr11	TogoVar
CABP5_chr19_48024383_48049079	48029794	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0040 a0001c0002t0040g0040	1	376	0.0027	16	c.76 others(25): Show c.762_*763insCTCTCTCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	762		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029798	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01257.hp1 HG01943.hp1 others(2): Show HG01081.hp2 HG01257.hp1 HG01943.hp1 NA18952.hp2 NA18960.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0032 a0003c0004t0014g0200 a0003c0004t0014g0203 others(1): Show a0003c0004t0014g0032 a0003c0004t0014g0200 a0003c0004t0014g0203 a0003c0004t0014g0220	5	376	0.0133	16	c.74 others(25): Show c.743_*758dupCTCTCTCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	758		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029828	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0074 a0004c0007t0074	a0004c0007t0074g0227 a0004c0007t0074g0227	1	376	0.0027	16	c.72 others(25): Show c.728_*729insGTCTCTCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	728		chr19	TogoVar
CABP5_chr19_48024383_48049079	48037259	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 NA18612.hp2 HG02886.hp2 HG03471.hp2 NA18612.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0004 a0005c0008t0009 a0001c0001t0001 a0005c0008t0004 a0005c0008t0009	a0001c0001t0001g0148 a0005c0008t0004g0252 a0005c0008t0009g0290 a0001c0001t0001g0148 a0005c0008t0004g0252 a0005c0008t0009g0290	3	376	0.0080	16	c.348 others(33): Show c.348+1933_348+1948dupAAAAAAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	4/5			chr19	TogoVar
CACHD1_chr1_64465129_64698053	64466140	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01258.hp1 HG02559.hp1 others(6): Show HG01255.hp1 HG01258.hp1 HG02559.hp1 HG02572.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001	a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0081 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0081 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0002t0001g0163 a0001c0002t0004g0166 a0001c0003t0001g0078 a0001c0003t0001g0079	9	166	0.0542	16	c.-46 others(27): Show c.-4605_-4604insTGTGTGTGTGTGTGTG	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3988		chr1	TogoVar
CACHD1_chr1_64465129_64698053	64466455	C C	CATATATA others(9): Show CATATATACACATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG02258.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0015 a0001c0001t0016g0014 a0001c0001t0002g0015 a0001c0001t0016g0014	2	166	0.0121	16	c.-42 others(27): Show c.-4290_-4289insATATATACACATATGT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3673		chr1	TogoVar
CACHD1_chr1_64465129_64698053	64500717	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02630.hp1 HG02886.hp2 HG01081.hp1 HG02630.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0002t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0002	a0001c0001t0004g0001 a0001c0001t0007g0130 a0001c0002t0002g0153 a0001c0001t0004g0001 a0001c0001t0007g0130 a0001c0002t0002g0153	3	166	0.0181	16	c.198 others(35): Show c.198+29778_198+29793dupAAAAAAAAAAAAAAAA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64543402	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp1 HG02897.hp1 HG02559.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0049 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0001t0001g0049 a0001c0003t0001g0078 a0001c0003t0001g0079	3	166	0.0181	16	c.199 others(33): Show c.199-7183_199-7168dupATATATATATATATAT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64606106	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp1 HG02258.hp2 others(3): Show HG00621.hp2 HG01123.hp1 HG02258.hp2 NA18522.hp2 NA18948.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0002t0001 a0001c0002t0006	a0001c0001t0002g0132 a0001c0001t0006g0070 a0001c0001t0013g0046 others(3): Show a0001c0001t0002g0132 a0001c0001t0006g0070 a0001c0001t0013g0046 a0001c0001t0016g0014 a0001c0002t0001g0042 a0001c0002t0006g0069	6	166	0.0361	16	c.517 others(33): Show c.517+3203_517+3218dupACACACACACACACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64681541	G G	GGTTTTTT others(9): Show GGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG02647.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0019 a0001c0001t0018 a0001c0001t0019	a0001c0001t0018g0101 a0001c0001t0019g0109 a0001c0001t0018g0101 a0001c0001t0019g0109	2	166	0.0121	16	c.348 others(33): Show c.3484+206_3484+207insGTTTTTTTTTTTTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	25/26			chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13202280	T T	TTATCTAT others(9): Show TTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0117 a0002c0117	a0002c0117t0009 a0002c0117t0009	a0002c0117t0009g0079 a0002c0117t0009g0079	1	218	0.0046	16	c.50 others(27): Show c.5032_*5033insGATAGATAGATAGATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4161		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13202316	C C	CTATCTAT others(9): Show CTATCTATCTATCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02055.hp2 HG02109.hp2 others(14): Show HG01123.hp2 HG02055.hp2 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18964.hp1 NA19084.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0010 a0015 a0020 a0044	a0001c0005 a0001c0006 a0001c0058 others(11): Show a0001c0005 a0001c0006 a0001c0058 a0001c0072 a0001c0125 a0003c0013 a0003c0015 a0003c0108 a0004c0093 a0005c0024 a0010c0107 a0015c0021 a0020c0078 a0044c0112	a0001c0005t0005 a0001c0005t0008 a0001c0006t0008 others(13): Show a0001c0005t0005 a0001c0005t0008 a0001c0006t0008 a0001c0058t0004 a0001c0072t0037 a0001c0125t0013 a0003c0013t0027 a0003c0015t0002 a0003c0108t0012 a0004c0093t0010 a0005c0024t0006 a0005c0024t0008 a0010c0107t0021 a0015c0021t0010 a0020c0078t0019 a0044c0112t0012	a0001c0005t0005g0028 a0001c0005t0005g0135 a0001c0005t0008g0204 others(14): Show a0001c0005t0005g0028 a0001c0005t0005g0135 a0001c0005t0008g0204 a0001c0006t0008g0148 a0001c0058t0004g0083 a0001c0072t0037g0213 a0001c0125t0013g0209 a0003c0013t0027g0149 a0003c0015t0002g0167 a0003c0108t0012g0211 a0004c0093t0010g0046 a0005c0024t0006g0117 a0005c0024t0008g0214 a0010c0107t0021g0004 a0015c0021t0010g0045 a0020c0078t0019g0151 a0044c0112t0012g0206	17	218	0.0780	16	c.49 others(27): Show c.4996_*4997insCACAGATAGATAGATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4125		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13202322	A A	ATCTATCT others(9): Show ATCTATCTATCTATCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02486.hp1 HG03453.hp1 others(4): Show HG02293.hp1 HG02486.hp1 HG03453.hp1 HG03704.hp1 HG03834.hp1 NA19012.hp1 NA20300.hp2	a0001 a0004 a0017 a0001 a0004 a0017	a0001c0001 a0001c0004 a0001c0016 others(3): Show a0001c0001 a0001c0004 a0001c0016 a0001c0106 a0004c0007 a0017c0127	a0001c0001t0001 a0001c0004t0001 a0001c0016t0004 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0016t0004 a0001c0106t0001 a0004c0007t0001 a0017c0127t0001	a0001c0001t0001g0115 a0001c0001t0001g0182 a0001c0004t0001g0097 others(4): Show a0001c0001t0001g0115 a0001c0001t0001g0182 a0001c0004t0001g0097 a0001c0016t0004g0047 a0001c0106t0001g0121 a0004c0007t0001g0049 a0017c0127t0001g0007	7	218	0.0321	16	c.49 others(27): Show c.4990_*4991insCAGATAGATAGATAGA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4119		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13230579	C C	CGGATCAC others(9): Show CGGATCACTTGAGGTCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0126 a0001c0126	a0001c0126t0022 a0001c0126t0022	a0001c0126t0022g0006 a0001c0126t0022g0006	1	218	0.0046	16	c.540 others(33): Show c.5401-371_5401-370insTGACCTCAAGTGATCC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	35/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13247713	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01978.hp2 HG02896.hp2 others(2): Show HG01257.hp1 HG01978.hp2 HG02896.hp2 HG02970.hp2 NA19084.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0055 a0004c0093 others(1): Show a0001c0001 a0003c0055 a0004c0093 a0005c0022	a0001c0001t0001 a0003c0055t0044 a0004c0093t0010 others(1): Show a0001c0001t0001 a0003c0055t0044 a0004c0093t0010 a0005c0022t0010	a0001c0001t0001g0030 a0001c0001t0001g0128 a0003c0055t0044g0071 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0128 a0003c0055t0044g0071 a0004c0093t0010g0046 a0005c0022t0010g0109	5	218	0.0229	16	c.486 others(35): Show c.4867-2464_4867-2449dupATTTATTTATTTATTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	30/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13247741	T T	TAAATAAA others(9): Show TAAATAAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp1 HG03453.hp1 HG02055.hp2 HG02615.hp1 HG03453.hp1	a0001 a0044 a0001 a0044	a0001c0037 a0001c0106 a0044c0112 a0001c0037 a0001c0106 a0044c0112	a0001c0037t0004 a0001c0106t0001 a0044c0112t0012 a0001c0037t0004 a0001c0106t0001 a0044c0112t0012	a0001c0037t0004g0021 a0001c0106t0001g0121 a0044c0112t0012g0206 a0001c0037t0004g0021 a0001c0106t0001g0121 a0044c0112t0012g0206	3	218	0.0138	16	c.486 others(35): Show c.4867-2477_4867-2476insTTTTATTTATTTATTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	30/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13255708	C C	CCTCCCTC others(9): Show CCTCCCTCCCTCCTTCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0056 a0003c0056	a0003c0056t0003 a0003c0056t0003	a0003c0056t0003g0057 a0003c0056t0003g0057	1	218	0.0046	16	c.459 others(33): Show c.4591-465_4591-450dupAGAAGGAGGGAGGGAG	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	28/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13255728	C C	CCTCCCTC others(9): Show CCTCCCTCCCTCCTTCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0082 a0002c0002t0033g0082	1	218	0.0046	16	c.459 others(33): Show c.4591-470_4591-469insAGAAGGAGGGAGGGAG	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	28/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13294487	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG03195.hp2 HG02280.hp1 HG02451.hp2 HG03195.hp2	a0017 a0018 a0017 a0018	a0017c0040 a0018c0017 a0017c0040 a0018c0017	a0017c0040t0001 a0018c0017t0014 a0017c0040t0001 a0018c0017t0014	a0017c0040t0001g0008 a0018c0017t0014g0212 a0018c0017t0014g0216 a0017c0040t0001g0008 a0018c0017t0014g0212 a0018c0017t0014g0216	3	218	0.0138	16	c.308 others(35): Show c.3089+4041_3089+4056dupAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA20129.hp1 HG03831.hp1 NA20129.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0015 a0008c0008t0002 a0002c0002t0015 a0008c0008t0002	a0002c0002t0015g0160 a0008c0008t0002g0065 a0002c0002t0015g0160 a0008c0008t0002g0065	2	218	0.0092	16	c.166 others(35): Show c.1669-1977_1669-1962dupATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13320237	C C	CGAGAGAG others(9): Show CGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02056.hp1 HG03831.hp2 others(1): Show HG01081.hp1 HG02056.hp1 HG03831.hp2 NA18995.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0004 a0002c0082 a0006c0121 others(1): Show a0001c0004 a0002c0082 a0006c0121 a0009c0014	a0001c0004t0032 a0002c0082t0003 a0006c0121t0041 others(1): Show a0001c0004t0032 a0002c0082t0003 a0006c0121t0041 a0009c0014t0046	a0001c0004t0032g0081 a0002c0082t0003g0058 a0006c0121t0041g0042 others(1): Show a0001c0004t0032g0081 a0002c0082t0003g0058 a0006c0121t0041g0042 a0009c0014t0046g0176	4	218	0.0184	16	c.134 others(35): Show c.1346-2932_1346-2917dupTCTCTCTCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19043.hp1 HG04115.hp1 NA19043.hp1	a0008 a0020 a0008 a0020	a0008c0012 a0020c0074 a0008c0012 a0020c0074	a0008c0012t0006 a0020c0074t0012 a0008c0012t0006 a0020c0074t0012	a0008c0012t0006g0120 a0020c0074t0012g0161 a0008c0012t0006g0120 a0020c0074t0012g0161	2	218	0.0092	16	c.979 others(31): Show c.979-701_979-686dupTCTCTCTCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(9): Show GGAGAGAGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01952.hp1 HG02717.hp2 others(7): Show HG01070.hp1 HG01952.hp1 HG02717.hp2 HG03831.hp1 NA18955.hp1 NA18973.hp1 NA18977.hp2 NA19030.hp2 NA19065.hp2 NA19084.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0013 a0036	a0001c0018 a0002c0003 a0002c0010 others(7): Show a0001c0018 a0002c0003 a0002c0010 a0002c0019 a0003c0055 a0003c0073 a0003c0116 a0008c0008 a0013c0089 a0036c0052	a0001c0018t0001 a0002c0003t0003 a0002c0010t0002 others(7): Show a0001c0018t0001 a0002c0003t0003 a0002c0010t0002 a0002c0019t0002 a0003c0055t0044 a0003c0073t0042 a0003c0116t0045 a0008c0008t0002 a0013c0089t0001 a0036c0052t0006	a0001c0018t0001g0056 a0002c0003t0003g0061 a0002c0010t0002g0054 others(7): Show a0001c0018t0001g0056 a0002c0003t0003g0061 a0002c0010t0002g0054 a0002c0019t0002g0185 a0003c0055t0044g0071 a0003c0073t0042g0026 a0003c0116t0045g0111 a0008c0008t0002g0065 a0013c0089t0001g0143 a0036c0052t0006g0154	10	218	0.0459	16	c.979 others(31): Show c.979-686_979-685insTCTCTCCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406509	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0068 a0001c0034t0001g0068	1	218	0.0046	16	c.540 others(35): Show c.540-34731_540-34730insCATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406509	A A	ATATATAT others(9): Show ATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02083.hp1 NA18968.hp2 others(1): Show HG01952.hp2 HG02083.hp1 NA18968.hp2 NA18973.hp1	a0002 a0007 a0013 others(1): Show a0002 a0007 a0013 a0045	a0002c0003 a0007c0075 a0013c0089 others(1): Show a0002c0003 a0007c0075 a0013c0089 a0045c0036	a0002c0003t0002 a0007c0075t0003 a0013c0089t0001 others(1): Show a0002c0003t0002 a0007c0075t0003 a0013c0089t0001 a0045c0036t0028	a0002c0003t0002g0126 a0007c0075t0003g0190 a0013c0089t0001g0143 others(1): Show a0002c0003t0002g0126 a0007c0075t0003g0190 a0013c0089t0001g0143 a0045c0036t0028g0173	4	218	0.0184	16	c.540 others(35): Show c.540-34731_540-34730insCATACATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413893	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0013 a0001c0071t0013	a0001c0071t0013g0138 a0001c0071t0013g0138	1	218	0.0046	16	c.539 others(35): Show c.539+38982_539+38983insTTCTTTCTTTCTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413895	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp2 HG02970.hp1 others(6): Show HG02717.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03225.hp1 HG03453.hp2 HG03834.hp1 NA18973.hp2 NA19079.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0015 a0043	a0001c0001 a0002c0003 a0002c0117 others(5): Show a0001c0001 a0002c0003 a0002c0117 a0003c0077 a0004c0007 a0006c0029 a0015c0021 a0043c0091	a0001c0001t0001 a0002c0003t0003 a0002c0117t0009 others(5): Show a0001c0001t0001 a0002c0003t0003 a0002c0117t0009 a0003c0077t0039 a0004c0007t0001 a0006c0029t0002 a0015c0021t0004 a0043c0091t0005	a0001c0001t0001g0025 a0001c0001t0001g0030 a0002c0003t0003g0177 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0002c0003t0003g0177 a0002c0117t0009g0079 a0003c0077t0039g0022 a0004c0007t0001g0049 a0006c0029t0002g0197 a0015c0021t0004g0044 a0043c0091t0005g0027	9	218	0.0413	16	c.539 others(35): Show c.539+38965_539+38980dupCTTTCTTTCTTTCTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413895	A A	AAGAAAAA others(9): Show AAGAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp1 NA18522.hp1 HG02622.hp2 HG03130.hp1 NA18522.hp1	a0001 a0016 a0001 a0016	a0001c0038 a0001c0072 a0016c0028 a0001c0038 a0001c0072 a0016c0028	a0001c0038t0007 a0001c0072t0037 a0016c0028t0007 a0001c0038t0007 a0001c0072t0037 a0016c0028t0007	a0001c0038t0007g0205 a0001c0072t0037g0213 a0016c0028t0007g0084 a0001c0038t0007g0205 a0001c0072t0037g0213 a0016c0028t0007g0084	3	218	0.0138	16	c.539 others(35): Show c.539+38980_539+38981insCTTTCTTTCTTTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13427453	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp2 NA18939.hp2 HG02809.hp1 HG02976.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0005 a0001c0005t0005 a0001c0006t0008 a0001c0001t0005 a0001c0005t0005 a0001c0006t0008	a0001c0001t0005g0168 a0001c0005t0005g0135 a0001c0006t0008g0148 a0001c0001t0005g0168 a0001c0005t0005g0135 a0001c0006t0008g0148	3	218	0.0138	16	c.539 others(35): Show c.539+25407_539+25422dupATTTATTTATTTATTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13432416	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02559.hp1 HG03139.hp2 others(4): Show HG02083.hp2 HG02559.hp1 HG03139.hp2 NA18906.hp1 NA18946.hp1 NA18995.hp2 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0016 a0038	a0001c0005 a0002c0082 a0003c0039 others(3): Show a0001c0005 a0002c0082 a0003c0039 a0005c0033 a0016c0028 a0038c0044	a0001c0005t0004 a0001c0005t0010 a0002c0082t0003 others(4): Show a0001c0005t0004 a0001c0005t0010 a0002c0082t0003 a0003c0039t0009 a0005c0033t0011 a0016c0028t0007 a0038c0044t0005	a0001c0005t0004g0201 a0001c0005t0010g0202 a0002c0082t0003g0058 others(4): Show a0001c0005t0004g0201 a0001c0005t0010g0202 a0002c0082t0003g0058 a0003c0039t0009g0075 a0005c0033t0011g0010 a0016c0028t0007g0073 a0038c0044t0005g0175	7	218	0.0321	16	c.539 others(35): Show c.539+20444_539+20459dupATTTATTTATTTATTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00639.hp1 others(14): Show HG00423.hp2 HG00438.hp1 HG00639.hp1 HG01070.hp1 HG01169.hp2 HG01496.hp2 HG01952.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02647.hp2 HG03195.hp1 HG03669.hp2 NA18955.hp1 NA18998.hp2 NA19043.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0011 a0012 a0033 a0042	a0001c0001 a0001c0004 a0001c0018 others(10): Show a0001c0001 a0001c0004 a0001c0018 a0001c0096 a0002c0002 a0002c0003 a0002c0010 a0003c0013 a0003c0054 a0011c0043 a0012c0065 a0033c0088 a0042c0097	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0018t0001 a0001c0096t0025 a0002c0002t0002 a0002c0003t0002 a0002c0003t0007 a0002c0010t0002 a0003c0013t0018 a0003c0054t0043 a0011c0043t0015 a0012c0065t0017 a0033c0088t0001 a0042c0097t0005	a0001c0001t0001g0019 a0001c0001t0001g0182 a0001c0001t0004g0013 others(14): Show a0001c0001t0001g0019 a0001c0001t0001g0182 a0001c0001t0004g0013 a0001c0004t0001g0199 a0001c0018t0001g0056 a0001c0096t0025g0003 a0002c0002t0002g0011 a0002c0003t0002g0126 a0002c0003t0007g0086 a0002c0010t0002g0054 a0002c0010t0002g0064 a0003c0013t0018g0063 a0003c0054t0043g0060 a0011c0043t0015g0043 a0012c0065t0017g0055 a0033c0088t0001g0207 a0042c0097t0005g0059	17	218	0.0780	16	c.539 others(35): Show c.539+19400_539+19415dupTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13464543	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0004 a0025c0041t0004	a0025c0041t0004g0107 a0025c0041t0004g0107	1	218	0.0046	16	c.294 others(33): Show c.294-9347_294-9332dupAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13466877	A A	ATTATTTA others(9): Show ATTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG01255.hp1 others(14): Show HG01106.hp2 HG01123.hp2 HG01255.hp1 HG01934.hp1 HG02056.hp2 HG02622.hp1 HG02647.hp1 HG02970.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03704.hp2 NA18747.hp2 NA19000.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0010 a0016 a0023 a0032 a0037	a0001c0001 a0001c0005 a0001c0016 others(13): Show a0001c0001 a0001c0005 a0001c0016 a0001c0096 a0001c0098 a0001c0106 a0002c0002 a0002c0117 a0003c0015 a0003c0110 a0007c0009 a0010c0128 a0016c0028 a0023c0113 a0032c0045 a0037c0087	a0001c0001t0004 a0001c0005t0008 a0001c0016t0004 others(14): Show a0001c0001t0004 a0001c0005t0008 a0001c0016t0004 a0001c0096t0025 a0001c0098t0001 a0001c0106t0001 a0002c0002t0002 a0002c0002t0015 a0002c0117t0009 a0003c0015t0008 a0003c0110t0006 a0007c0009t0003 a0010c0128t0010 a0016c0028t0007 a0023c0113t0013 a0032c0045t0005 a0037c0087t0001	a0001c0001t0004g0218 a0001c0005t0008g0204 a0001c0016t0004g0074 others(14): Show a0001c0001t0004g0218 a0001c0005t0008g0204 a0001c0016t0004g0074 a0001c0096t0025g0003 a0001c0098t0001g0112 a0001c0106t0001g0121 a0002c0002t0002g0095 a0002c0002t0015g0160 a0002c0117t0009g0079 a0003c0015t0008g0036 a0003c0110t0006g0137 a0007c0009t0003g0069 a0010c0128t0010g0139 a0016c0028t0007g0073 a0023c0113t0013g0096 a0032c0045t0005g0191 a0037c0087t0001g0103	17	218	0.0780	16	c.294 others(35): Show c.294-11681_294-11666dupATAAATAAATAAATAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar

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