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	230748821	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	342	0.0029	11	c.-43 others(30): Show c.-43-11138_-43-11137insTATATATATAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230748829	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18969.hp2 HG00642.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0058 a0001c0001t0004g0117 a0001c0001t0001g0058 a0001c0001t0004g0117	2	342	0.0059	11	c.-43 others(30): Show c.-43-11130_-43-11129insTATATATATAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	342	0.0029	11	c.-43 others(30): Show c.-43-11127_-43-11126insAAAAATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	342	0.0029	11	c.-43 others(30): Show c.-43-11127_-43-11126insAAATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp2 NA18968.hp1 HG04199.hp1 HG04199.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0244 a0001c0001t0001g0340 a0001c0001t0001g0041 a0001c0001t0001g0244 a0001c0001t0001g0340	3	342	0.0088	11	c.-43 others(30): Show c.-43-11127_-43-11126insATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0153	1	342	0.0029	11	c.-43 others(30): Show c.-43-11128_-43-11127insTATATATATAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02109.hp1 HG01168.hp2 HG01169.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0196 a0001c0001t0006g0201 a0001c0001t0019g0021 a0001c0001t0006g0196 a0001c0001t0006g0201 a0001c0001t0019g0021	3	342	0.0088	11	c.115 others(28): Show c.115-8060_115-8059insTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230813978	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	342	0.0029	11	c.628 others(24): Show c.628-47_628-37dupTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230825154	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0194 a0001c0001t0006g0195	2	342	0.0059	11	c.64 others(22): Show c.6450_*6451insAAAAAAAAAAA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4080		chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61679329	C C	CTAATCTA others(4): Show CTAATCTATCTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01255.hp1 others(11): Show HG00741.hp1 HG01081.hp1 HG01255.hp1 HG01515.hp2 HG01517.hp1 HG02145.hp1 HG02486.hp2 HG02818.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03669.hp1 HG04184.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0006 a0001c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0095 a0001c0001t0003g0270 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0095 a0001c0001t0003g0270 a0001c0001t0003g0295 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0025 a0001c0002t0006g0015 a0001c0002t0006g0016 a0001c0008t0002g0018	14	374	0.0374	11	c.165 others(28): Show c.165-1812_165-1811insATCTATCTATA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24042877	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	268	0.0037	11	c.346 others(24): Show c.346-27_346-26insGTGTGTGTGTG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36			chr22	TogoVar
CABIN1_chr22_24006304_24183628	24136524	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02015.hp2 HG03831.hp1 others(4): Show HG01993.hp1 HG02015.hp2 HG03831.hp1 NA18955.hp1 NA18964.hp2 NA18981.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0133 others(4): Show a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0133 a0001c0003t0001g0136 a0002c0002t0001g0169 a0002c0002t0001g0189 a0002c0002t0001g0214	7	268	0.0261	11	c.474 others(30): Show c.4746+2123_4746+2133dupTTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23150207	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0167 a0001c0001t0010g0167	1	278	0.0036	11	c.845 others(30): Show c.845+13609_845+13619dupTTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23248512	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG03239.hp1 others(3): Show HG00738.hp1 HG01081.hp1 HG03239.hp1 HG03654.hp2 HG03834.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0002c0002t0001 a0002c0002t0050 a0002c0002t0053	a0001c0001t0001g0067 a0001c0001t0005g0191 a0001c0001t0007g0042 others(3): Show a0001c0001t0001g0067 a0001c0001t0005g0191 a0001c0001t0007g0042 a0002c0002t0001g0129 a0002c0002t0050g0090 a0002c0002t0053g0128	6	278	0.0216	11	c.144 others(30): Show c.1447-4432_1447-4422dupTTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23248538	T T	TTTTTTTT others(4): Show TTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0233 a0001c0001t0005g0233	1	278	0.0036	11	c.144 others(30): Show c.1447-4422_1447-4421insTTTTTTTTTTA	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	7/9			chr18	TogoVar
CABLES2_chr20_62383634_62412285	62405987	G G	GACCCTGC others(4): Show GACCCTGCCTCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0220 a0001c0011t0004g0220	1	400	0.0025	11	c.362 others(26): Show c.362+927_362+928insGGAGGCAGGGT	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62407352	C C	CGGCGGCC others(4): Show CGGCGGCCGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	400	0.0025	11	c.-77 others(18): Show c.-77_-76insCGCCGGCCGCC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding		68		chr20	TogoVar
CABP1_chr12_120635626_120672324	120636805	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00621.hp1 others(76): Show HG00408.hp1 HG00408.hp2 HG00621.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG06807.hp1 NA18747.hp2 NA18940.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(58): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0155 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0002g0249 a0002c0002t0001g0291	79	418	0.1890	11	c.-38 others(22): Show c.-3881_-3880insTTTTTTTTTTT	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		3820		chr12	TogoVar
CABP1_chr12_120635626_120672324	120642995	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00621.hp1 others(61): Show HG00408.hp1 HG00597.hp2 HG00621.hp1 HG00738.hp2 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01361.hp2 HG01517.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02683.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18943.hp2 NA18944.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18978.hp1 NA18979.hp2 NA18984.hp1 NA18988.hp2 NA18992.hp1 NA19011.hp1 NA19058.hp1 NA19062.hp1 NA19074.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0024 others(46): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0290 a0001c0001t0001g0295	64	418	0.1531	11	c.654 others(28): Show c.654+1663_654+1673dupAAAAAAAAAAA	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CABP1_chr12_120635626_120672324	120642995	G G	GGAAAAAA others(4): Show GGAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp1 others(50): Show HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00673.hp2 HG01243.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02165.hp2 HG02258.hp1 HG02647.hp2 HG02886.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 NA18747.hp2 NA18940.hp1 NA18945.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp2 NA18968.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18998.hp2 NA19004.hp2 NA19010.hp1 NA19060.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(34): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0249	53	418	0.1268	11	c.654 others(28): Show c.654+1656_654+1657insGAAAAAAAAAA	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5			chr12	TogoVar
CABP5_chr19_48024383_48049079	48028493	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0202 a0003c0004t0011g0202	1	376	0.0027	11	c.20 others(22): Show c.2063_*2064insAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		889		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029837	A A	AGAGAGAG others(4): Show AGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0039 a0001c0002t0039g0039	1	376	0.0027	11	c.71 others(20): Show c.719_*720insCTCTCTCTCTC	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	719		chr19	TogoVar
CABP5_chr19_48024383_48049079	48037259	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp1 others(51): Show HG00140.hp2 HG00423.hp2 HG00544.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02132.hp1 HG02300.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03927.hp1 HG04115.hp2 NA18942.hp1 NA18947.hp1 NA18954.hp1 NA18960.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA19002.hp2 NA19043.hp2 NA19066.hp2 NA19068.hp2 NA19082.hp1 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0038 a0001c0001t0062 a0010c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0003g0007 a0001c0001t0003g0267 a0001c0001t0005g0022 a0001c0001t0005g0115 a0001c0001t0005g0122 a0001c0001t0005g0124 a0001c0001t0005g0151 a0001c0001t0005g0249 a0001c0001t0007g0128 a0001c0001t0012g0092 a0001c0001t0038g0030 a0001c0001t0062g0150 a0010c0013t0001g0068	54	376	0.1436	11	c.348 others(28): Show c.348+1938_348+1948dupAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	4/5			chr19	TogoVar
CABP5_chr19_48024383_48049079	48043491	T T	TGGGGGTG others(4): Show TGGGGGTGGTTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0037 a0003c0010t0037	a0003c0010t0037g0287 a0003c0010t0037g0287	1	376	0.0027	11	c.63+ others(24): Show c.63+368_63+369insTAACCACCCCC	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CACFD1_chr9_133454978_133475848	133460460	G G	GGGCGGGG others(4): Show GGGCGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp1 HG03209.hp2 others(1): Show HG02280.hp2 HG02970.hp1 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0052 a0001c0001t0022 a0001c0001t0052	a0001c0001t0022g0016 a0001c0001t0052g0016 a0001c0001t0022g0016 a0001c0001t0052g0016	4	420	0.0095	11	c.121 others(26): Show c.121+282_121+292dupGGCGGCGGGGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACFD1_chr9_133454978_133475848	133463251	C C	CCTGCCAC others(4): Show CCTGCCACCTTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0045 a0001c0009t0045	a0001c0009t0045g0071 a0001c0009t0045g0071	1	420	0.0024	11	c.122 others(26): Show c.122-217_122-207dupCCACCTTGCTG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACHD1_chr1_64465129_64698053	64500717	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02976.hp1 HG03041.hp2 HG01169.hp1 HG02976.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0127 a0001c0001t0002g0141 a0001c0001t0002g0143	3	166	0.0181	11	c.198 others(30): Show c.198+29783_198+29793dupAAAAAAAAAAA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64681541	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02559.hp2 HG02738.hp1 others(4): Show HG01168.hp1 HG02559.hp2 HG02738.hp1 NA18522.hp2 NA19002.hp1 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0003t0003	a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0002g0150 others(4): Show a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0002g0150 a0001c0001t0006g0065 a0001c0001t0013g0046 a0001c0003t0003g0033 a0001c0003t0003g0035	7	166	0.0422	11	c.348 others(28): Show c.3484+219_3484+229dupTTTTTTTTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13215312	G G	GTGGTTTT others(4): Show GTGGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp1 HG03130.hp1 NA20300.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0007 a0016c0028t0007	a0016c0028t0007g0073 a0016c0028t0007g0084 a0016c0028t0007g0073 a0016c0028t0007g0084	2	218	0.0092	11	c.573 others(28): Show c.5732-705_5732-704insAAAAAAAACCA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13215312	G G	GTTGTTTT others(4): Show GTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01192.hp2 others(6): Show HG00639.hp1 HG00738.hp1 HG01192.hp2 HG01884.hp1 HG02258.hp2 HG02293.hp1 NA18964.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0024	a0001c0001 a0002c0003 a0003c0013 others(5): Show a0001c0001 a0002c0003 a0003c0013 a0003c0015 a0003c0056 a0004c0123 a0007c0009 a0024c0059	a0001c0001t0001 a0002c0003t0002 a0003c0013t0018 others(6): Show a0001c0001t0001 a0002c0003t0002 a0003c0013t0018 a0003c0015t0002 a0003c0015t0035 a0003c0056t0003 a0004c0123t0009 a0007c0009t0038 a0024c0059t0023	a0001c0001t0001g0182 a0002c0003t0002g0113 a0003c0013t0018g0063 others(6): Show a0001c0001t0001g0182 a0002c0003t0002g0113 a0003c0013t0018g0063 a0003c0015t0002g0167 a0003c0015t0035g0119 a0003c0056t0003g0057 a0004c0123t0009g0077 a0007c0009t0038g0153 a0024c0059t0023g0001	9	218	0.0413	11	c.573 others(28): Show c.5732-715_5732-705dupAAAAAAAACAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13318890	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02040.hp2 HG02280.hp2 others(2): Show HG01123.hp2 HG02040.hp2 HG02280.hp2 HG02723.hp2 NA19043.hp2	a0001 a0007 a0020 others(1): Show a0001 a0007 a0020 a0033	a0001c0005 a0001c0071 a0007c0118 others(2): Show a0001c0005 a0001c0071 a0007c0118 a0020c0078 a0033c0088	a0001c0005t0008 a0001c0071t0013 a0007c0118t0002 others(2): Show a0001c0005t0008 a0001c0071t0013 a0007c0118t0002 a0020c0078t0019 a0033c0088t0001	a0001c0005t0008g0204 a0001c0071t0013g0138 a0007c0118t0002g0052 others(2): Show a0001c0005t0008g0204 a0001c0071t0013g0138 a0007c0118t0002g0052 a0020c0078t0019g0151 a0033c0088t0001g0207	5	218	0.0229	11	c.134 others(30): Show c.1346-1580_1346-1570dupAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13320275	A A	AGAGAGAG others(4): Show AGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02273.hp1 HG01123.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0001 a0001c0001t0004 a0001c0004t0001	a0001c0001t0004g0013 a0001c0004t0001g0018 a0001c0001t0004g0013 a0001c0004t0001g0018	2	218	0.0092	11	c.134 others(30): Show c.1346-2955_1346-2954insCTCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13393811	T T	TTCCTTCC others(4): Show TTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp2 others(57): Show HG00099.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02083.hp1 HG02165.hp1 HG02602.hp2 HG02622.hp1 HG02976.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18964.hp2 NA18968.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19012.hp2 NA19065.hp1 NA19065.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0019 a0022 a0027 a0030 a0031 a0035 a0039 a0045	a0001c0001 a0001c0004 a0001c0005 others(39): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0020 a0001c0122 a0002c0002 a0002c0003 a0002c0030 a0002c0032 a0002c0050 a0002c0082 a0002c0104 a0003c0013 a0003c0015 a0003c0046 a0003c0056 a0003c0116 a0004c0007 a0005c0022 a0005c0024 a0005c0033 a0006c0011 a0006c0029 a0007c0100 a0008c0008 a0008c0012 a0009c0014 a0009c0051 a0010c0128 a0011c0025 a0012c0065 a0014c0048 a0019c0079 a0019c0109 a0022c0095 a0027c0064 a0030c0062 a0031c0061 a0035c0057 a0039c0068 a0045c0036	a0001c0001t0004 a0001c0004t0001 a0001c0004t0011 others(46): Show a0001c0001t0004 a0001c0004t0001 a0001c0004t0011 a0001c0004t0032 a0001c0005t0005 a0001c0006t0001 a0001c0006t0008 a0001c0006t0009 a0001c0020t0001 a0001c0122t0001 a0002c0002t0002 a0002c0002t0033 a0002c0003t0002 a0002c0003t0003 a0002c0030t0002 a0002c0032t0006 a0002c0050t0002 a0002c0082t0003 a0002c0104t0040 a0003c0013t0007 a0003c0015t0035 a0003c0046t0003 a0003c0056t0003 a0003c0116t0045 a0004c0007t0009 a0004c0007t0010 a0005c0022t0004 a0005c0024t0006 a0005c0033t0011 a0006c0011t0002 a0006c0029t0002 a0007c0100t0017 a0008c0008t0002 a0008c0012t0003 a0009c0014t0046 a0009c0051t0002 a0010c0128t0010 a0011c0025t0011 a0012c0065t0017 a0014c0048t0001 a0019c0079t0007 a0019c0109t0005 a0022c0095t0003 a0027c0064t0004 a0030c0062t0002 a0031c0061t0003 a0035c0057t0020 a0039c0068t0001 a0045c0036t0028	a0001c0001t0004g0017 a0001c0004t0001g0018 a0001c0004t0001g0080 others(57): Show a0001c0001t0004g0017 a0001c0004t0001g0018 a0001c0004t0001g0080 a0001c0004t0001g0097 a0001c0004t0001g0199 a0001c0004t0011g0157 a0001c0004t0032g0081 a0001c0005t0005g0135 a0001c0006t0001g0032 a0001c0006t0008g0134 a0001c0006t0009g0189 a0001c0020t0001g0051 a0001c0122t0001g0174 a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0130 a0002c0002t0033g0082 a0002c0003t0002g0053 a0002c0003t0003g0061 a0002c0003t0003g0166 a0002c0003t0003g0177 a0002c0030t0002g0165 a0002c0032t0006g0087 a0002c0050t0002g0088 a0002c0082t0003g0058 a0002c0104t0040g0156 a0003c0013t0007g0041 a0003c0015t0035g0119 a0003c0046t0003g0116 a0003c0056t0003g0057 a0003c0116t0045g0111 a0004c0007t0009g0147 a0004c0007t0010g0062 a0005c0022t0004g0092 a0005c0024t0006g0117 a0005c0033t0011g0010 a0005c0033t0011g0170 a0006c0011t0002g0098 a0006c0011t0002g0133 a0006c0029t0002g0197 a0007c0100t0017g0039 a0008c0008t0002g0125 a0008c0012t0003g0015 a0009c0014t0046g0176 a0009c0051t0002g0184 a0010c0128t0010g0139 a0011c0025t0011g0038 a0012c0065t0017g0055 a0014c0048t0001g0146 a0019c0079t0007g0067 a0019c0109t0005g0198 a0022c0095t0003g0183 a0027c0064t0004g0101 a0030c0062t0002g0124 a0031c0061t0003g0106 a0035c0057t0020g0002 a0039c0068t0001g0171 a0045c0036t0028g0173	60	218	0.2752	11	c.540 others(30): Show c.540-22033_540-22032insGGAAGGAAGGA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13432103	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0021 a0021	a0021c0090 a0021c0090	a0021c0090t0007 a0021c0090t0007	a0021c0090t0007g0162 a0021c0090t0007g0162	1	218	0.0046	11	c.539 others(30): Show c.539+20762_539+20772dupTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13489003	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG04228.hp1 NA20300.hp1 HG03139.hp2 HG04228.hp1 NA20300.hp1	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0006 a0003c0039 a0016c0028 a0001c0006 a0003c0039 a0016c0028	a0001c0006t0008 a0003c0039t0009 a0016c0028t0007 a0001c0006t0008 a0003c0039t0009 a0016c0028t0007	a0001c0006t0008g0134 a0003c0039t0009g0075 a0016c0028t0007g0073 a0001c0006t0008g0134 a0003c0039t0009g0075 a0016c0028t0007g0073	3	218	0.0138	11	c.293 others(30): Show c.293+16918_293+16928dupAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510056	A A	AGGGAGGG others(4): Show AGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00639.hp1 others(62): Show HG00099.hp2 HG00140.hp2 HG00639.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18973.hp1 NA19043.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0013 a0014 a0016 a0017 a0018 a0021 a0027 a0033 a0034 a0040 a0042 a0043	a0001c0001 a0001c0004 a0001c0005 others(49): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0016 a0001c0018 a0001c0031 a0001c0034 a0001c0037 a0001c0038 a0001c0049 a0001c0099 a0001c0120 a0001c0125 a0002c0002 a0002c0003 a0002c0010 a0002c0086 a0002c0117 a0003c0013 a0003c0015 a0003c0035 a0003c0039 a0003c0073 a0003c0077 a0003c0094 a0003c0108 a0004c0093 a0004c0123 a0005c0022 a0005c0066 a0006c0011 a0006c0121 a0007c0009 a0009c0014 a0010c0083 a0011c0025 a0011c0103 a0013c0089 a0014c0048 a0014c0111 a0016c0028 a0017c0040 a0017c0127 a0018c0017 a0021c0092 a0027c0064 a0033c0088 a0034c0081 a0040c0069 a0042c0097 a0043c0091	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(59): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0004t0032 a0001c0005t0004 a0001c0005t0008 a0001c0005t0010 a0001c0005t0047 a0001c0006t0008 a0001c0016t0004 a0001c0018t0001 a0001c0031t0013 a0001c0031t0036 a0001c0034t0001 a0001c0037t0004 a0001c0038t0007 a0001c0049t0001 a0001c0099t0012 a0001c0120t0004 a0001c0125t0013 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0033 a0002c0003t0007 a0002c0010t0003 a0002c0086t0003 a0002c0117t0009 a0003c0013t0018 a0003c0015t0008 a0003c0015t0035 a0003c0035t0016 a0003c0039t0009 a0003c0073t0042 a0003c0077t0039 a0003c0094t0018 a0003c0108t0012 a0004c0093t0010 a0004c0123t0009 a0005c0022t0010 a0005c0066t0001 a0006c0011t0002 a0006c0121t0041 a0007c0009t0003 a0009c0014t0002 a0010c0083t0014 a0011c0025t0011 a0011c0103t0004 a0013c0089t0001 a0014c0048t0001 a0014c0111t0004 a0016c0028t0007 a0017c0040t0001 a0017c0127t0001 a0018c0017t0014 a0021c0092t0016 a0027c0064t0004 a0033c0088t0001 a0034c0081t0019 a0040c0069t0014 a0042c0097t0005 a0043c0091t0005	a0001c0001t0001g0025 a0001c0001t0004g0013 a0001c0004t0001g0078 others(62): Show a0001c0001t0001g0025 a0001c0001t0004g0013 a0001c0004t0001g0078 a0001c0004t0001g0080 a0001c0004t0032g0081 a0001c0005t0004g0201 a0001c0005t0008g0204 a0001c0005t0010g0202 a0001c0005t0047g0024 a0001c0006t0008g0217 a0001c0016t0004g0074 a0001c0018t0001g0037 a0001c0031t0013g0123 a0001c0031t0036g0215 a0001c0034t0001g0072 a0001c0037t0004g0021 a0001c0038t0007g0205 a0001c0049t0001g0012 a0001c0099t0012g0029 a0001c0120t0004g0014 a0001c0125t0013g0209 a0002c0002t0002g0020 a0002c0002t0003g0181 a0002c0002t0006g0142 a0002c0002t0033g0082 a0002c0003t0007g0086 a0002c0010t0003g0023 a0002c0086t0003g0035 a0002c0117t0009g0079 a0003c0013t0018g0063 a0003c0015t0008g0036 a0003c0015t0035g0119 a0003c0035t0016g0076 a0003c0039t0009g0075 a0003c0073t0042g0026 a0003c0077t0039g0022 a0003c0094t0018g0208 a0003c0108t0012g0211 a0004c0093t0010g0046 a0004c0123t0009g0077 a0005c0022t0010g0109 a0005c0066t0001g0034 a0006c0011t0002g0133 a0006c0121t0041g0042 a0007c0009t0003g0031 a0007c0009t0003g0069 a0009c0014t0002g0048 a0010c0083t0014g0159 a0011c0025t0011g0038 a0011c0103t0004g0200 a0013c0089t0001g0143 a0014c0048t0001g0146 a0014c0111t0004g0210 a0016c0028t0007g0073 a0017c0040t0001g0008 a0017c0127t0001g0007 a0018c0017t0014g0212 a0018c0017t0014g0216 a0021c0092t0016g0203 a0027c0064t0004g0101 a0033c0088t0001g0207 a0034c0081t0019g0152 a0040c0069t0014g0040 a0042c0097t0005g0059 a0043c0091t0005g0027	65	218	0.2982	11	c.-38 others(22): Show c.-3833_-3832insCCCTCCCTCCC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3578		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510060	A A	AGGGGGGA others(4): Show AGGGGGGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0085 a0002c0085	a0002c0085t0005 a0002c0085t0005	a0002c0085t0005g0085 a0002c0085t0005g0085	1	218	0.0046	11	c.-38 others(22): Show c.-3837_-3836insCCCCTCCCCCC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3582		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137877657	C C	CGGGGCGG others(4): Show CGGGGCGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0207 a0002c0004t0026g0207	1	248	0.0040	11	c.-27 others(20): Show c.-277_-276insGGGGCGGGGCG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		124		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138114764	T T	TGGTTGTT others(4): Show TGGTTGTTATGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0065 a0001c0002t0008g0065	1	248	0.0040	11	c.564 others(28): Show c.5649+278_5649+288dupTGTTATGGGGT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2177590	T T	TCCCTCCC others(4): Show TCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp1 HG02922.hp2 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0033 a0001c0004 a0001c0033	a0001c0004t0004 a0001c0033t0020 a0001c0004t0004 a0001c0033t0020	a0001c0004t0004g0086 a0001c0033t0020g0070 a0001c0004t0004g0086 a0001c0033t0020g0070	2	104	0.0192	11	c.477 others(30): Show c.477+57160_477+57161insCCCTCCCTCCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46			chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2240754	G G	GTGGCCTC others(4): Show GTGGCCTCCTCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01358.hp1 HG01891.hp1 others(20): Show HG01106.hp1 HG01358.hp1 HG01891.hp1 HG02040.hp2 HG02145.hp1 HG02258.hp2 HG02523.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG04115.hp2 NA18966.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0024 a0001c0026 a0001c0038 a0002c0009 a0002c0013 a0004c0034	a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 others(18): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0021 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0003t0009 a0001c0004t0004 a0001c0004t0010 a0001c0005t0002 a0001c0006t0001 a0001c0006t0003 a0001c0007t0005 a0001c0010t0008 a0001c0024t0003 a0001c0026t0003 a0001c0038t0041 a0002c0009t0012 a0002c0013t0016 a0004c0034t0009	a0001c0001t0002g0096 a0001c0001t0004g0005 a0001c0001t0017g0004 others(20): Show a0001c0001t0002g0096 a0001c0001t0004g0005 a0001c0001t0017g0004 a0001c0001t0021g0055 a0001c0001t0028g0081 a0001c0002t0001g0016 a0001c0002t0003g0056 a0001c0003t0009g0085 a0001c0004t0004g0084 a0001c0004t0004g0086 a0001c0004t0010g0020 a0001c0005t0002g0098 a0001c0006t0001g0102 a0001c0006t0003g0069 a0001c0007t0005g0002 a0001c0010t0008g0064 a0001c0024t0003g0067 a0001c0026t0003g0066 a0001c0038t0041g0047 a0002c0009t0012g0061 a0002c0009t0012g0062 a0002c0013t0016g0022 a0004c0034t0009g0041	23	104	0.2212	11	c.477 others(32): Show c.477+120334_477+120335insATGGCCTCCTC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2380030	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0038 a0001c0008t0038	a0001c0008t0038g0044 a0001c0008t0038g0044	1	104	0.0096	11	c.478 others(30): Show c.478-68942_478-68932dupAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2501209	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	104	0.0096	11	c.111 others(30): Show c.1114-3212_1114-3202dupAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2535704	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02258.hp1 HG02273.hp1 others(5): Show HG01993.hp1 HG02258.hp1 HG02273.hp1 HG02572.hp1 HG02886.hp1 HG03195.hp1 HG03209.hp1 NA19003.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0017 a0004c0034	a0001c0001t0004 a0001c0001t0005 a0001c0003t0008 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0003t0008 a0001c0003t0018 a0001c0006t0001 a0001c0017t0006 a0004c0034t0009	a0001c0001t0004g0038 a0001c0001t0005g0015 a0001c0003t0008g0057 others(5): Show a0001c0001t0004g0038 a0001c0001t0005g0015 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0003t0018g0068 a0001c0006t0001g0033 a0001c0017t0006g0006 a0004c0034t0009g0041	8	104	0.0769	11	c.139 others(32): Show c.1391-14220_1391-14210dupAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520895	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG04199.hp1 HG02886.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0036 a0001c0004t0008 a0001c0002t0036 a0001c0004t0008	a0001c0002t0036g0033 a0001c0004t0008g0048 a0001c0002t0036g0033 a0001c0004t0008g0048	2	210	0.0095	11	c.483 others(30): Show c.483+19177_483+19178insCTTTCTTTCTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53538141	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG02922.hp2 others(2): Show HG02559.hp2 HG02723.hp2 HG02922.hp2 HG03139.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0012 others(1): Show a0001c0002 a0001c0007 a0001c0012 a0001c0024	a0001c0002t0006 a0001c0002t0010 a0001c0007t0031 others(2): Show a0001c0002t0006 a0001c0002t0010 a0001c0007t0031 a0001c0012t0027 a0001c0024t0079	a0001c0002t0006g0192 a0001c0002t0010g0190 a0001c0007t0031g0187 others(2): Show a0001c0002t0006g0192 a0001c0002t0010g0190 a0001c0007t0031g0187 a0001c0012t0027g0193 a0001c0024t0079g0040	5	210	0.0238	11	c.483 others(30): Show c.483+36437_483+36447dupTTTTTTTTTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53651366	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03516.hp1 others(1): Show HG02896.hp2 HG02897.hp2 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0010 a0001c0002t0028 a0001c0021t0035 a0001c0002t0010 a0001c0002t0028 a0001c0021t0035	a0001c0002t0010g0138 a0001c0002t0010g0139 a0001c0002t0028g0198 others(1): Show a0001c0002t0010g0138 a0001c0002t0010g0139 a0001c0002t0028g0198 a0001c0021t0035g0205	4	210	0.0191	11	c.623 others(26): Show c.623+460_623+470dupTTTTTTTTTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	4/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0158 a0001c0002t0007g0158	1	210	0.0048	11	c.122 others(30): Show c.1220+8570_1220+8580dupAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53810758	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0158 a0001c0002t0007g0158	1	210	0.0048	11	c.625 others(28): Show c.6253-337_6253-327dupAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	48/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181548129	C C	CTTTTTTT others(4): Show CTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0170 a0003c0003t0005g0170	1	206	0.0049	11	c.513 others(30): Show c.513-29629_513-29628insCTTTTTTTTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr1	TogoVar

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