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
CAB39L_chr13_49303650_49449064	49442787	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01257.hp1 HG02015.hp1 others(22): Show HG01256.hp2 HG01257.hp1 HG02015.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02886.hp1 HG03041.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03942.hp1 HG04204.hp1 NA18939.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA19012.hp1 NA19030.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0013	a0001c0001t0001g0001 a0001c0001t0001g0094 a0001c0001t0001g0095 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0317 a0001c0001t0004g0268 a0001c0001t0004g0271 a0001c0001t0006g0260 a0001c0001t0012g0264 a0001c0001t0015g0270 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0259 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0276 a0001c0002t0002g0275 a0001c0002t0013g0266	25	324	0.0772	-10	c.-24 others(29): Show c.-246+1189_-246+1198delTTTTTTTTTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230727363	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	342	0.0029	-10	c.-44 others(29): Show c.-44+14160_-44+14169delGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748825	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0028 a0001c0001t0028g0028	1	342	0.0029	-10	c.-43 others(29): Show c.-43-11132_-43-11123delAAAAAATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748829	AAAATATA others(3): Show AAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0027 a0001c0001t0042g0027	1	342	0.0029	-10	c.-43 others(29): Show c.-43-11128_-43-11119delAATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230783442	AGTTTTGT others(3): Show AGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0029 a0001c0001t0006g0029	1	342	0.0029	-10	c.115 others(27): Show c.115-7400_115-7391delTGTTTTGTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230804389	AATAGATA others(3): Show AATAGATAAAT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	342	0.0029	-10	c.567 others(27): Show c.567+5493_567+5502delATAGATAAAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	5/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230808051	TTTTTCTT others(3): Show TTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0041 a0001c0001t0011 a0001c0001t0041	a0001c0001t0011g0309 a0001c0001t0041g0308 a0001c0001t0011g0309 a0001c0001t0041g0308	2	342	0.0059	-10	c.568 others(27): Show c.568-2192_568-2183delCTTTTCTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230825690	CTTTCTTT others(3): Show CTTTCTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	342	0.0029	-10	c.69 others(21): Show c.6987_*6996delTTTCTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4616		chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61703227	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	374	0.0027	-10	c.552 others(29): Show c.552+12639_552+12648delACACACACAC	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61710253	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01106.hp1 others(33): Show HG00639.hp1 HG00741.hp1 HG01106.hp1 HG01167.hp1 HG01884.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02486.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG04199.hp1 HG04199.hp2 NA18949.hp1 NA18962.hp2 NA19003.hp1 NA19030.hp2 NA19078.hp1 NA19081.hp2 NA20905.hp2 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0004c0009 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0003t0002 a0004c0009t0008 a0005c0007t0001	a0001c0001t0001g0024 a0001c0001t0001g0093 a0001c0001t0001g0094 others(33): Show a0001c0001t0001g0024 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0222 a0001c0001t0001g0275 a0001c0001t0001g0299 a0001c0001t0002g0162 a0001c0001t0002g0276 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0007g0266 a0001c0001t0007g0272 a0001c0002t0001g0115 a0001c0002t0002g0131 a0001c0002t0002g0134 a0001c0002t0002g0144 a0001c0002t0009g0139 a0001c0003t0002g0325 a0001c0003t0002g0326 a0001c0003t0002g0338 a0004c0009t0008g0265 a0005c0007t0001g0248	36	374	0.0963	-10	c.552 others(29): Show c.552+19665_552+19674delGTGTGTGTGT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011076	AACACACA others(3): Show AACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02896.hp2 HG03098.hp2 HG02055.hp1 HG02896.hp2 HG03098.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0234 a0001c0007t0002g0236 a0001c0007t0002g0238 a0001c0007t0002g0234 a0001c0007t0002g0236 a0001c0007t0002g0238	3	268	0.0112	-10	c.-36 others(19): Show c.-365_-356delACACACACAC	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		227		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011141	GCGCGCAC others(3): Show GCGCGCACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03139.hp1 HG03453.hp1 HG01884.hp2 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246	3	268	0.0112	-10	c.-30 others(19): Show c.-300_-291delCGCGCACACA	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		162		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24042818	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG02717.hp1 others(3): Show HG01243.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG03195.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0005 a0001c0001 a0001c0007 a0003c0005	a0001c0001t0001 a0001c0007t0002 a0003c0005t0001 a0001c0001t0001 a0001c0007t0002 a0003c0005t0001	a0001c0001t0001g0006 a0001c0007t0002g0237 a0003c0005t0001g0250 others(3): Show a0001c0001t0001g0006 a0001c0007t0002g0237 a0003c0005t0001g0250 a0003c0005t0001g0251 a0003c0005t0001g0252 a0003c0005t0001g0253	6	268	0.0224	-10	c.346 others(23): Show c.346-36_346-27delGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24062346	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19083.hp2 NA18977.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0176 a0002c0002t0001g0167 a0002c0002t0001g0176	2	268	0.0075	-10	c.169 others(27): Show c.1696+338_1696+347delTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24123256	TTGCATTC others(3): Show TTGCATTCCCA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03834.hp2 HG04184.hp2 others(2): Show HG03688.hp2 HG03834.hp2 HG04184.hp2 NA18942.hp1 NA18959.hp1	a0001 a0014 a0001 a0014	a0001c0010 a0014c0026 a0001c0010 a0014c0026	a0001c0010t0001 a0001c0010t0008 a0014c0026t0004 a0001c0010t0001 a0001c0010t0008 a0014c0026t0004	a0001c0010t0001g0262 a0001c0010t0001g0263 a0001c0010t0001g0264 others(2): Show a0001c0010t0001g0262 a0001c0010t0001g0263 a0001c0010t0001g0264 a0001c0010t0008g0247 a0014c0026t0004g0130	5	268	0.0187	-10	c.463 others(29): Show c.4632+3559_4632+3568delTGCATTCCCA	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	28/36			chr22	TogoVar
CABLES1_chr18_23130485_23265470	23174821	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG01884.hp2 others(8): Show HG00597.hp1 HG00673.hp1 HG01884.hp2 HG02040.hp1 HG02572.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp2 NA18952.hp2 NA18992.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0042 a0002c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0261 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0261 a0001c0001t0003g0183 a0001c0001t0003g0262 a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0171 a0001c0001t0013g0134 a0001c0001t0042g0263 a0002c0002t0001g0180	11	278	0.0396	-10	c.846 others(29): Show c.846-13986_846-13977delATATATATAT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23181496	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0102 a0002c0002t0002g0102	1	278	0.0036	-10	c.846 others(27): Show c.846-7320_846-7311delAAAAAAAAAA	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23248512	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0080 a0001c0001t0055g0080	1	278	0.0036	-10	c.144 others(29): Show c.1447-4431_1447-4422delTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABP1_chr12_120635626_120672324	120653510	AGTTTTGT others(3): Show AGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18990.hp2 HG02027.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0237 a0001c0001t0001g0240	2	418	0.0048	-10	c.655 others(27): Show c.655-6352_655-6343delGTTTTGTTTT	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CABP4_chr11_67450354_67466752	67465281	GAAAGGAG others(3): Show GAAAGGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-10	c.66 others(21): Show c.6623_*6632delAAAGGAGAGA	CABP4	ENSG00000175544.14	transcript	ENST00000325656.7	protein_coding		3530		chr11	TogoVar
CABP5_chr19_48024383_48049079	48037259	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0145 a0001c0001t0003g0144 a0001c0001t0001g0145 a0001c0001t0003g0144	2	376	0.0053	-10	c.348 others(27): Show c.348+1939_348+1948delAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	4/5			chr19	TogoVar
CABP5_chr19_48024383_48049079	48039703	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0030 a0001c0001t0038g0030	2	376	0.0053	-10	c.239 others(25): Show c.239-396_239-387delAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	3/5			chr19	TogoVar
CABP5_chr19_48024383_48049079	48040863	AGAAACAA others(3): Show AGAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01070.hp2 others(51): Show HG00544.hp2 HG00609.hp1 HG01070.hp2 HG01175.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02145.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02886.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03209.hp2 HG03516.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18943.hp2 NA18946.hp1 NA18955.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18982.hp2 NA18986.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp2 NA19005.hp1 NA19009.hp2 NA19054.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp2	a0002 a0006 a0009 others(1): Show a0002 a0006 a0009 a0010	a0002c0003 a0002c0006 a0006c0009 others(2): Show a0002c0003 a0002c0006 a0006c0009 a0009c0014 a0010c0013	a0002c0003t0006 a0002c0003t0008 a0002c0003t0013 others(19): Show a0002c0003t0006 a0002c0003t0008 a0002c0003t0013 a0002c0003t0016 a0002c0003t0024 a0002c0003t0025 a0002c0003t0026 a0002c0003t0027 a0002c0003t0051 a0002c0003t0054 a0002c0003t0056 a0002c0006t0025 a0002c0006t0027 a0002c0006t0050 a0002c0006t0052 a0002c0006t0053 a0002c0006t0055 a0006c0009t0019 a0006c0009t0022 a0006c0009t0043 a0009c0014t0066 a0010c0013t0001	a0002c0003t0006g0010 a0002c0003t0006g0017 a0002c0003t0006g0048 others(46): Show a0002c0003t0006g0010 a0002c0003t0006g0017 a0002c0003t0006g0048 a0002c0003t0006g0052 a0002c0003t0006g0053 a0002c0003t0006g0060 a0002c0003t0006g0061 a0002c0003t0006g0070 a0002c0003t0006g0071 a0002c0003t0006g0072 a0002c0003t0006g0073 a0002c0003t0006g0075 a0002c0003t0006g0080 a0002c0003t0008g0019 a0002c0003t0008g0047 a0002c0003t0008g0051 a0002c0003t0008g0057 a0002c0003t0008g0058 a0002c0003t0008g0059 a0002c0003t0008g0074 a0002c0003t0008g0079 a0002c0003t0013g0018 a0002c0003t0013g0054 a0002c0003t0013g0055 a0002c0003t0013g0056 a0002c0003t0016g0050 a0002c0003t0016g0069 a0002c0003t0016g0077 a0002c0003t0016g0181 a0002c0003t0024g0062 a0002c0003t0024g0064 a0002c0003t0025g0065 a0002c0003t0026g0063 a0002c0003t0026g0066 a0002c0003t0027g0067 a0002c0003t0051g0049 a0002c0003t0054g0081 a0002c0003t0056g0076 a0002c0006t0025g0188 a0002c0006t0027g0192 a0002c0006t0050g0189 a0002c0006t0052g0190 a0002c0006t0053g0191 a0002c0006t0055g0193 a0006c0009t0019g0042 a0006c0009t0022g0083 a0006c0009t0043g0082 a0009c0014t0066g0264 a0010c0013t0001g0068	54	376	0.1436	-10	c.95- others(23): Show c.95-125_95-116delGTTTTGTTTC	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	2/5			chr19	TogoVar
CABYR_chr18_24134062_24166600	24134257	GTTTTTTG others(3): Show GTTTTTTGTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02572.hp1 others(7): Show HG02055.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02896.hp2 HG03195.hp1 HG03225.hp2 HG03579.hp1 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0001c0005 a0001c0022 others(4): Show a0001c0003 a0001c0005 a0001c0022 a0001c0029 a0001c0036 a0005c0044 a0005c0051	a0001c0003t0001 a0001c0005t0002 a0001c0022t0001 others(4): Show a0001c0003t0001 a0001c0005t0002 a0001c0022t0001 a0001c0029t0001 a0001c0036t0001 a0005c0044t0001 a0005c0051t0001	a0001c0003t0001g0010 a0001c0005t0002g0131 a0001c0022t0001g0111 others(6): Show a0001c0003t0001g0010 a0001c0005t0002g0131 a0001c0022t0001g0111 a0001c0022t0001g0115 a0001c0022t0001g0119 a0001c0029t0001g0151 a0001c0036t0001g0176 a0005c0044t0001g0150 a0005c0051t0001g0149	10	408	0.0245	-10	c.-48 others(21): Show c.-4885_-4876delTTTTTTGTTT	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding		4804		chr18	TogoVar
CABYR_chr18_24134062_24166600	24154102	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	2	408	0.0049	-10	c.200 others(27): Show c.200-1582_200-1573delAAAAAAAAAA	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACFD1_chr9_133454978_133475848	133468946	CCTGTGAC others(3): Show CCTGTGACCTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0003 a0001c0001t0066g0003	1	420	0.0024	-10	c.30 others(19): Show c.304_*313delCTGTGACCTG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	5/5	304	INFO_REALIGN_3_PRIME	chr9	TogoVar
CACFD1_chr9_133454978_133475848	133470189	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(107): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG03041.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18965.hp2 NA18972.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp2 NA19058.hp1 NA19075.hp1 NA19077.hp1 NA19081.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0012 others(2): Show a0001c0001 a0001c0003 a0001c0012 a0001c0016 a0005c0005	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(13): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0041 a0001c0001t0049 a0001c0003t0010 a0001c0012t0002 a0001c0016t0002 a0005c0005t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(51): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0115 a0001c0001t0007g0005 a0001c0001t0007g0014 a0001c0001t0007g0050 a0001c0001t0007g0051 a0001c0001t0007g0052 a0001c0001t0007g0064 a0001c0001t0007g0066 a0001c0001t0010g0001 a0001c0001t0010g0011 a0001c0001t0010g0015 a0001c0001t0010g0029 a0001c0001t0014g0010 a0001c0001t0014g0089 a0001c0001t0020g0010 a0001c0001t0023g0008 a0001c0001t0023g0058 a0001c0001t0024g0004 a0001c0001t0030g0007 a0001c0001t0032g0006 a0001c0001t0035g0006 a0001c0001t0041g0075 a0001c0001t0049g0077 a0001c0003t0010g0012 a0001c0012t0002g0084 a0001c0016t0002g0006 a0005c0005t0002g0007	110	420	0.2619	-10	c.15 others(21): Show c.1564_*1573delGTGTGTGTGT	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	5/5	1564	INFO_REALIGN_3_PRIME	chr9	TogoVar
CACHD1_chr1_64465129_64698053	64466445	TATATATA others(3): Show TATATATACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18962.hp2 NA19002.hp1 others(1): Show NA18955.hp2 NA18962.hp2 NA19002.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0058 a0001c0001t0006g0065 a0001c0001t0006g0075 others(1): Show a0001c0001t0001g0058 a0001c0001t0006g0065 a0001c0001t0006g0075 a0001c0001t0006g0133	4	166	0.0241	-10	c.-42 others(21): Show c.-4299_-4290delATATATACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3683		chr1	TogoVar
CACHD1_chr1_64465129_64698053	64486359	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	166	0.0060	-10	c.198 others(29): Show c.198+15427_198+15436delTACACACACA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64500732	AAAAGAGA others(3): Show AAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19043.hp2 HG02895.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0148 a0001c0001t0001g0157	2	166	0.0121	-10	c.198 others(29): Show c.198+29792_198+29801delAAGAGAGAGA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64601649	CGTGTTCT others(3): Show CGTGTTCTTAT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	166	0.0060	-10	c.411 others(27): Show c.411-1141_411-1132delCTTATGTGTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64640692	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG02257.hp1 others(11): Show HG00735.hp2 HG01109.hp2 HG02257.hp1 HG02257.hp2 HG02615.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03516.hp2 HG03540.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0002t0005 a0001c0007t0007	a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0073 others(11): Show a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0113 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0015 a0001c0001t0003g0099 a0001c0001t0004g0108 a0001c0001t0007g0131 a0001c0001t0011g0029 a0001c0001t0017g0044 a0001c0002t0005g0016 a0001c0007t0007g0123	14	166	0.0843	-10	c.100 others(29): Show c.1007-1097_1007-1088delACACACACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64681541	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00741.hp2 others(12): Show HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG01515.hp1 HG02135.hp2 HG02523.hp2 HG02895.hp1 NA18948.hp1 NA19056.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004	a0001c0001t0001g0059 a0001c0001t0001g0097 a0001c0001t0006g0070 others(12): Show a0001c0001t0001g0059 a0001c0001t0001g0097 a0001c0001t0006g0070 a0001c0003t0001g0034 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0061 a0001c0003t0001g0084 a0001c0003t0002g0124 a0001c0003t0002g0139 a0001c0003t0002g0152 a0001c0003t0004g0117 a0001c0003t0004g0146 a0001c0003t0004g0147	15	166	0.0904	-10	c.348 others(27): Show c.3484+220_3484+229delTTTTTTTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13201922	CGGCAGCT others(3): Show CGGCAGCTGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02056.hp1 HG03942.hp2 others(3): Show HG00438.hp1 HG02056.hp1 HG03942.hp2 NA18975.hp1 NA19065.hp2 NA19084.hp2	a0003 a0009 a0028 others(1): Show a0003 a0009 a0028 a0040	a0003c0054 a0003c0055 a0003c0116 others(3): Show a0003c0054 a0003c0055 a0003c0116 a0009c0014 a0028c0119 a0040c0069	a0003c0054t0043 a0003c0055t0044 a0003c0116t0045 others(3): Show a0003c0054t0043 a0003c0055t0044 a0003c0116t0045 a0009c0014t0046 a0028c0119t0026 a0040c0069t0014	a0003c0054t0043g0060 a0003c0055t0044g0071 a0003c0116t0045g0111 others(3): Show a0003c0054t0043g0060 a0003c0055t0044g0071 a0003c0116t0045g0111 a0009c0014t0046g0176 a0028c0119t0026g0131 a0040c0069t0014g0040	6	218	0.0275	-10	c.53 others(21): Show c.5381_*5390delTTCAGCTGCC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4519		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13213672	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp2 others(58): Show HG00140.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp2 HG00735.hp2 HG01099.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01496.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18948.hp2 NA18955.hp1 NA18964.hp2 NA18968.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18998.hp2 NA19012.hp2 NA19065.hp1 NA19079.hp2 NA19084.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0020 a0021 a0022 a0030 a0031 a0034 a0041 a0042 a0043 a0045	a0001c0004 a0001c0005 a0001c0006 others(42): Show a0001c0004 a0001c0005 a0001c0006 a0001c0018 a0001c0026 a0001c0038 a0001c0099 a0002c0002 a0002c0003 a0002c0010 a0002c0019 a0002c0070 a0002c0086 a0002c0104 a0003c0013 a0003c0046 a0003c0077 a0003c0094 a0003c0108 a0005c0024 a0005c0102 a0006c0011 a0006c0029 a0006c0121 a0007c0009 a0007c0075 a0007c0118 a0008c0008 a0008c0012 a0009c0014 a0009c0051 a0010c0053 a0012c0023 a0012c0065 a0014c0115 a0020c0078 a0021c0092 a0022c0095 a0030c0062 a0031c0061 a0034c0081 a0041c0067 a0042c0097 a0043c0091 a0045c0036	a0001c0004t0001 a0001c0005t0005 a0001c0005t0047 others(50): Show a0001c0004t0001 a0001c0005t0005 a0001c0005t0047 a0001c0006t0008 a0001c0006t0009 a0001c0018t0001 a0001c0026t0001 a0001c0038t0007 a0001c0099t0012 a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0003t0003 a0002c0010t0002 a0002c0010t0003 a0002c0019t0002 a0002c0019t0003 a0002c0070t0007 a0002c0086t0003 a0002c0104t0040 a0003c0013t0007 a0003c0046t0003 a0003c0077t0039 a0003c0094t0018 a0003c0108t0012 a0005c0024t0006 a0005c0102t0003 a0006c0011t0003 a0006c0029t0002 a0006c0029t0003 a0006c0121t0041 a0007c0009t0003 a0007c0075t0003 a0007c0118t0002 a0008c0008t0002 a0008c0012t0003 a0008c0012t0006 a0009c0014t0046 a0009c0051t0002 a0010c0053t0003 a0012c0023t0003 a0012c0065t0017 a0014c0115t0004 a0020c0078t0019 a0021c0092t0016 a0022c0095t0003 a0030c0062t0002 a0031c0061t0003 a0034c0081t0019 a0041c0067t0002 a0042c0097t0005 a0043c0091t0005 a0045c0036t0028	a0001c0004t0001g0097 a0001c0005t0005g0028 a0001c0005t0047g0024 others(58): Show a0001c0004t0001g0097 a0001c0005t0005g0028 a0001c0005t0047g0024 a0001c0006t0008g0134 a0001c0006t0008g0148 a0001c0006t0009g0189 a0001c0018t0001g0037 a0001c0026t0001g0144 a0001c0038t0007g0205 a0001c0099t0012g0029 a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0095 a0002c0002t0003g0181 a0002c0003t0002g0053 a0002c0003t0002g0126 a0002c0003t0003g0061 a0002c0003t0003g0177 a0002c0010t0002g0054 a0002c0010t0003g0023 a0002c0019t0002g0185 a0002c0019t0003g0009 a0002c0070t0007g0102 a0002c0086t0003g0035 a0002c0104t0040g0156 a0003c0013t0007g0041 a0003c0046t0003g0116 a0003c0077t0039g0022 a0003c0094t0018g0208 a0003c0108t0012g0211 a0005c0024t0006g0117 a0005c0102t0003g0122 a0006c0011t0003g0070 a0006c0029t0002g0197 a0006c0029t0003g0169 a0006c0121t0041g0042 a0007c0009t0003g0031 a0007c0009t0003g0069 a0007c0075t0003g0190 a0007c0118t0002g0052 a0008c0008t0002g0065 a0008c0008t0002g0099 a0008c0012t0003g0091 a0008c0012t0006g0120 a0009c0014t0046g0176 a0009c0051t0002g0184 a0010c0053t0003g0186 a0012c0023t0003g0164 a0012c0023t0003g0180 a0012c0065t0017g0055 a0014c0115t0004g0066 a0020c0078t0019g0151 a0021c0092t0016g0203 a0022c0095t0003g0183 a0030c0062t0002g0124 a0031c0061t0003g0106 a0034c0081t0019g0152 a0041c0067t0002g0172 a0042c0097t0005g0059 a0043c0091t0005g0027 a0045c0036t0028g0173	61	218	0.2798	-10	c.594 others(27): Show c.5940+551_5940+560delAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	40/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13227903	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0099 a0001c0099	a0001c0099t0012 a0001c0099t0012	a0001c0099t0012g0029 a0001c0099t0012g0029	1	218	0.0046	-10	c.552 others(27): Show c.5529-386_5529-377delAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	36/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13276697	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG02280.hp1 others(7): Show HG00423.hp2 HG01496.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG03195.hp2 HG03225.hp2 HG03831.hp1 NA18975.hp1 NA20300.hp2	a0001 a0008 a0012 others(4): Show a0001 a0008 a0012 a0017 a0018 a0028 a0041	a0001c0016 a0008c0008 a0012c0065 others(5): Show a0001c0016 a0008c0008 a0012c0065 a0017c0040 a0017c0127 a0018c0017 a0028c0119 a0041c0067	a0001c0016t0004 a0008c0008t0002 a0012c0065t0017 others(5): Show a0001c0016t0004 a0008c0008t0002 a0012c0065t0017 a0017c0040t0001 a0017c0127t0001 a0018c0017t0014 a0028c0119t0026 a0041c0067t0002	a0001c0016t0004g0047 a0001c0016t0004g0074 a0008c0008t0002g0065 others(7): Show a0001c0016t0004g0047 a0001c0016t0004g0074 a0008c0008t0002g0065 a0012c0065t0017g0055 a0017c0040t0001g0008 a0017c0127t0001g0007 a0018c0017t0014g0212 a0018c0017t0014g0216 a0028c0119t0026g0131 a0041c0067t0002g0172	10	218	0.0459	-10	c.388 others(27): Show c.3882+362_3882+371delAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	23/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13290384	GTGTGTGT others(3): Show GTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp1 HG01081.hp2 others(16): Show HG00544.hp2 HG00735.hp1 HG01081.hp2 HG01256.hp1 HG01516.hp1 HG02056.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02895.hp1 HG03195.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp2 NA18968.hp2 NA18998.hp2 NA19000.hp2	a0001 a0002 a0007 others(8): Show a0001 a0002 a0007 a0008 a0009 a0011 a0017 a0018 a0034 a0039 a0040	a0001c0020 a0002c0002 a0002c0003 others(11): Show a0001c0020 a0002c0002 a0002c0003 a0007c0075 a0008c0008 a0008c0012 a0009c0014 a0011c0025 a0017c0040 a0017c0127 a0018c0017 a0034c0081 a0039c0068 a0040c0069	a0001c0020t0001 a0002c0002t0002 a0002c0003t0002 others(13): Show a0001c0020t0001 a0002c0002t0002 a0002c0003t0002 a0007c0075t0003 a0008c0008t0002 a0008c0012t0003 a0008c0012t0006 a0009c0014t0046 a0011c0025t0001 a0011c0025t0011 a0017c0040t0001 a0017c0127t0001 a0018c0017t0014 a0034c0081t0019 a0039c0068t0001 a0040c0069t0014	a0001c0020t0001g0188 a0002c0002t0002g0011 a0002c0002t0002g0095 others(16): Show a0001c0020t0001g0188 a0002c0002t0002g0011 a0002c0002t0002g0095 a0002c0003t0002g0053 a0007c0075t0003g0190 a0008c0008t0002g0033 a0008c0012t0003g0015 a0008c0012t0003g0091 a0008c0012t0006g0120 a0009c0014t0046g0176 a0011c0025t0001g0093 a0011c0025t0011g0038 a0017c0040t0001g0008 a0017c0127t0001g0007 a0018c0017t0014g0212 a0018c0017t0014g0216 a0034c0081t0019g0152 a0039c0068t0001g0171 a0040c0069t0014g0040	19	218	0.0872	-10	c.309 others(29): Show c.3090-3428_3090-3419delGACACACACA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13290721	GTATATGT others(3): Show GTATATGTGTA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0033 a0033	a0033c0088 a0033c0088	a0033c0088t0001 a0033c0088t0001	a0033c0088t0001g0207 a0033c0088t0001g0207	1	218	0.0046	-10	c.309 others(29): Show c.3090-3765_3090-3756delTACACATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310454	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02055.hp2 NA18939.hp2 others(2): Show HG00544.hp2 HG02055.hp2 NA18939.hp2 NA18977.hp1 NA19079.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0029 a0044	a0001c0001 a0002c0003 a0006c0029 others(2): Show a0001c0001 a0002c0003 a0006c0029 a0029c0063 a0044c0112	a0001c0001t0005 a0002c0003t0002 a0006c0029t0002 others(2): Show a0001c0001t0005 a0002c0003t0002 a0006c0029t0002 a0029c0063t0002 a0044c0112t0012	a0001c0001t0005g0168 a0002c0003t0002g0053 a0006c0029t0002g0197 others(2): Show a0001c0001t0005g0168 a0002c0003t0002g0053 a0006c0029t0002g0197 a0029c0063t0002g0196 a0044c0112t0012g0206	5	218	0.0229	-10	c.166 others(29): Show c.1669-1936_1669-1927delTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310483	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0033 a0033	a0033c0088 a0033c0088	a0033c0088t0001 a0033c0088t0001	a0033c0088t0001g0207 a0033c0088t0001g0207	1	218	0.0046	-10	c.166 others(29): Show c.1669-1965_1669-1956delATATTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	GGAGAGAG others(3): Show GGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG03225.hp2 HG02280.hp1 HG02615.hp2 HG03225.hp2	a0001 a0010 a0017 a0001 a0010 a0017	a0001c0016 a0010c0083 a0017c0040 a0001c0016 a0010c0083 a0017c0040	a0001c0016t0004 a0010c0083t0014 a0017c0040t0001 a0001c0016t0004 a0010c0083t0014 a0017c0040t0001	a0001c0016t0004g0074 a0010c0083t0014g0159 a0017c0040t0001g0008 a0001c0016t0004g0074 a0010c0083t0014g0159 a0017c0040t0001g0008	3	218	0.0138	-10	c.979 others(25): Show c.979-695_979-686delTCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346616	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02895.hp2 others(2): Show HG02280.hp2 HG02559.hp1 HG02895.hp2 NA18906.hp2 NA18973.hp2	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0005 a0001c0099 a0002c0003 others(1): Show a0001c0005 a0001c0099 a0002c0003 a0020c0078	a0001c0005t0005 a0001c0005t0010 a0001c0099t0012 others(2): Show a0001c0005t0005 a0001c0005t0010 a0001c0099t0012 a0002c0003t0003 a0020c0078t0019	a0001c0005t0005g0028 a0001c0005t0010g0202 a0001c0099t0012g0029 others(2): Show a0001c0005t0005g0028 a0001c0005t0010g0202 a0001c0099t0012g0029 a0002c0003t0003g0177 a0020c0078t0019g0151	5	218	0.0229	-10	c.979 others(29): Show c.979-10717_979-10708delTATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346658	ATATATAT others(3): Show ATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18964.hp1 HG02451.hp1 NA18964.hp1	a0003 a0003	a0003c0013 a0003c0015 a0003c0013 a0003c0015	a0003c0013t0027 a0003c0015t0002 a0003c0013t0027 a0003c0015t0002	a0003c0013t0027g0149 a0003c0015t0002g0167 a0003c0013t0027g0149 a0003c0015t0002g0167	2	218	0.0092	-10	c.979 others(29): Show c.979-10759_979-10750delAATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13354869	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00738.hp1 others(36): Show HG00140.hp1 HG00544.hp1 HG00738.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp2 HG01255.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02055.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03688.hp2 HG03831.hp1 HG04228.hp2 HG06807.hp1 NA18955.hp2 NA18973.hp1 NA19000.hp2 NA19030.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010 a0011 a0012 a0013 a0014 a0017 a0020 a0021 a0022 a0025 a0026 a0034 a0036 a0041 a0043 a0044	a0001c0005 a0001c0006 a0001c0016 others(30): Show a0001c0005 a0001c0006 a0001c0016 a0001c0026 a0001c0037 a0001c0038 a0001c0058 a0002c0002 a0002c0003 a0002c0010 a0002c0019 a0003c0013 a0004c0080 a0006c0011 a0008c0008 a0010c0053 a0010c0128 a0011c0103 a0012c0023 a0013c0089 a0014c0048 a0017c0127 a0020c0078 a0021c0090 a0021c0092 a0022c0095 a0025c0041 a0026c0042 a0034c0081 a0036c0052 a0041c0067 a0043c0091 a0044c0112	a0001c0005t0005 a0001c0005t0047 a0001c0006t0008 others(33): Show a0001c0005t0005 a0001c0005t0047 a0001c0006t0008 a0001c0016t0004 a0001c0026t0031 a0001c0037t0004 a0001c0038t0007 a0001c0058t0004 a0002c0002t0003 a0002c0003t0002 a0002c0003t0003 a0002c0003t0007 a0002c0010t0003 a0002c0019t0002 a0003c0013t0027 a0004c0080t0009 a0006c0011t0002 a0008c0008t0002 a0010c0053t0003 a0010c0128t0010 a0011c0103t0004 a0012c0023t0003 a0013c0089t0001 a0014c0048t0001 a0017c0127t0001 a0020c0078t0019 a0021c0090t0007 a0021c0092t0016 a0022c0095t0003 a0025c0041t0004 a0026c0042t0001 a0034c0081t0019 a0036c0052t0006 a0041c0067t0002 a0043c0091t0005 a0044c0112t0012	a0001c0005t0005g0028 a0001c0005t0047g0024 a0001c0006t0008g0217 others(36): Show a0001c0005t0005g0028 a0001c0005t0047g0024 a0001c0006t0008g0217 a0001c0016t0004g0047 a0001c0016t0004g0074 a0001c0026t0031g0104 a0001c0037t0004g0021 a0001c0038t0007g0205 a0001c0058t0004g0083 a0002c0002t0003g0090 a0002c0003t0002g0113 a0002c0003t0003g0127 a0002c0003t0007g0086 a0002c0010t0003g0023 a0002c0019t0002g0185 a0003c0013t0027g0149 a0004c0080t0009g0129 a0006c0011t0002g0133 a0008c0008t0002g0033 a0008c0008t0002g0065 a0008c0008t0002g0125 a0010c0053t0003g0186 a0010c0128t0010g0139 a0011c0103t0004g0200 a0012c0023t0003g0164 a0013c0089t0001g0143 a0014c0048t0001g0146 a0017c0127t0001g0007 a0020c0078t0019g0151 a0021c0090t0007g0162 a0021c0092t0016g0203 a0022c0095t0003g0183 a0025c0041t0004g0107 a0026c0042t0001g0089 a0034c0081t0019g0152 a0036c0052t0006g0154 a0041c0067t0002g0172 a0043c0091t0005g0027 a0044c0112t0012g0206	39	218	0.1789	-10	c.978 others(27): Show c.978+4727_978+4736delAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13360261	GTGTGTAT others(3): Show GTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0117 a0002c0117	a0002c0117t0009 a0002c0117t0009	a0002c0117t0009g0079 a0002c0117t0009g0079	1	218	0.0046	-10	c.785 others(25): Show c.785-472_785-463delTATATACACA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	5/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13388245	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01256.hp1 HG01975.hp1 others(1): Show HG01070.hp2 HG01256.hp1 HG01975.hp1 HG04115.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0066 a0008c0012 a0001c0001 a0005c0066 a0008c0012	a0001c0001t0001 a0005c0066t0001 a0008c0012t0003 others(1): Show a0001c0001t0001 a0005c0066t0001 a0008c0012t0003 a0008c0012t0006	a0001c0001t0001g0050 a0005c0066t0001g0034 a0008c0012t0003g0091 others(1): Show a0001c0001t0001g0050 a0005c0066t0001g0034 a0008c0012t0003g0091 a0008c0012t0006g0120	4	218	0.0184	-10	c.540 others(29): Show c.540-16476_540-16467delAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402873	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp1 HG03130.hp1 others(2): Show HG02572.hp1 HG02896.hp1 HG03130.hp1 HG03540.hp2 NA18522.hp1	a0001 a0016 a0021 a0001 a0016 a0021	a0001c0005 a0001c0031 a0001c0072 others(2): Show a0001c0005 a0001c0031 a0001c0072 a0016c0028 a0021c0092	a0001c0005t0047 a0001c0031t0036 a0001c0072t0037 others(2): Show a0001c0005t0047 a0001c0031t0036 a0001c0072t0037 a0016c0028t0007 a0021c0092t0016	a0001c0005t0047g0024 a0001c0031t0036g0215 a0001c0072t0037g0213 others(2): Show a0001c0005t0047g0024 a0001c0031t0036g0215 a0001c0072t0037g0213 a0016c0028t0007g0084 a0021c0092t0016g0203	5	218	0.0229	-10	c.540 others(29): Show c.540-31104_540-31095delATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406462	AAATTATA others(3): Show AAATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0007 a0003c0013t0007	a0003c0013t0007g0041 a0003c0013t0007g0041	1	218	0.0046	-10	c.540 others(29): Show c.540-34693_540-34684delATATATAATT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406465	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0122 a0001c0122	a0001c0122t0001 a0001c0122t0001	a0001c0122t0001g0174 a0001c0122t0001g0174	1	218	0.0046	-10	c.540 others(29): Show c.540-34696_540-34687delTATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar

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