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
CABCOCO1_chr10_61657929_61771766	61677065	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01074.hp2 others(27): Show HG00140.hp2 HG00639.hp2 HG01074.hp2 HG01346.hp1 HG01361.hp1 HG01981.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp2 HG02155.hp1 HG02523.hp2 HG02630.hp1 HG02647.hp1 HG03516.hp2 HG03927.hp2 HG04204.hp1 NA18522.hp1 NA18949.hp1 NA18950.hp2 NA18960.hp1 NA18969.hp1 NA18980.hp1 NA18984.hp2 NA18990.hp2 NA18997.hp1 NA19004.hp2 NA19063.hp2 NA19078.hp1 NA19080.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0349 others(25): Show a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0349 a0001c0001t0001g0353 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0212 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0309 a0001c0001t0002g0324 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0003t0002g0008 a0001c0003t0002g0304 a0001c0003t0002g0310 a0001c0003t0002g0322 a0001c0003t0002g0323 a0001c0003t0002g0325 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0328 a0001c0003t0002g0329 a0001c0003t0002g0334	30	374	0.0802	18	c.165 others(35): Show c.165-4076_165-4075insTAATAATAATAATAATAA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61679281	T T	TTATATCT others(11): Show TTATATCTATATCTATATC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00738.hp2 others(8): Show HG00423.hp1 HG00609.hp1 HG00738.hp2 HG02723.hp1 HG03490.hp2 HG03492.hp1 NA18941.hp1 NA18968.hp2 NA19000.hp1 NA19004.hp1 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0010 a0001c0001 a0001c0006 a0003c0010	a0001c0001t0001 a0001c0006t0001 a0003c0010t0001 a0001c0001t0001 a0001c0006t0001 a0003c0010t0001	a0001c0001t0001g0004 a0001c0001t0001g0097 a0001c0001t0001g0176 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0097 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0006t0001g0218 a0003c0010t0001g0175	11	374	0.0294	18	c.165 others(35): Show c.165-1828_165-1811dupATCTATATCTATATCTAT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61679329	C C	CTATATCT others(11): Show CTATATCTATATCTATCTA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02809.hp1 HG03710.hp2 others(3): Show HG02165.hp2 HG02809.hp1 HG03710.hp2 NA18522.hp2 NA18998.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0120 a0001c0002t0002g0121 others(3): Show a0001c0002t0002g0117 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0137	6	374	0.0160	18	c.165 others(35): Show c.165-1811_165-1810insATCTATATCTATCTATAT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61720917	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01358.hp2 HG03704.hp1 others(1): Show HG01255.hp1 HG01358.hp2 HG03704.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0002t0006 a0001c0008t0002 a0001c0002t0002 a0001c0002t0006 a0001c0008t0002	a0001c0002t0002g0011 a0001c0002t0002g0022 a0001c0002t0006g0023 others(1): Show a0001c0002t0002g0011 a0001c0002t0002g0022 a0001c0002t0006g0023 a0001c0008t0002g0018	4	374	0.0107	18	c.552 others(37): Show c.552+30304_552+30321dupTTTTTTTTTTTTTTTTTT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61757700	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	374	0.0027	18	c.553 others(35): Show c.553-2351_553-2334dupCACACACACACACACACA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011129	G G	GCGCACGC others(11): Show GCGCACGCGCACGCGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0122 a0005c0013t0001g0122	1	268	0.0037	18	c.-31 others(27): Show c.-313_-312insCGCACGCGCACGCGCGCA	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		174		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0213 a0001c0004t0001g0213	1	268	0.0037	18	c.346 others(31): Show c.346-85_346-84insCTGTGTGTGTGTGTGTGT	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(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG03516.hp2 others(3): Show HG00323.hp1 HG00558.hp1 HG03516.hp2 HG03654.hp2 NA18939.hp1 NA18949.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0008 a0006c0016 a0001c0001 a0001c0008 a0006c0016	a0001c0001t0001 a0001c0008t0001 a0006c0016t0001 a0001c0001t0001 a0001c0008t0001 a0006c0016t0001	a0001c0001t0001g0036 a0001c0001t0001g0081 a0001c0001t0001g0226 others(3): Show a0001c0001t0001g0036 a0001c0001t0001g0081 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0008t0001g0248 a0006c0016t0001g0083	6	268	0.0224	18	c.346 others(31): Show c.346-44_346-27dupGTGTGTGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23174821	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	278	0.0036	18	c.846 others(37): Show c.846-13994_846-13977dupATATATATATATATATAT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23177418	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0163 a0001c0001t0008g0163	1	278	0.0036	18	c.846 others(37): Show c.846-11401_846-11384dupACACACACACACACACAC	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(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00639.hp2 others(43): Show HG00408.hp1 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01433.hp1 HG01515.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02572.hp1 HG02965.hp1 HG03017.hp2 HG03669.hp2 HG03834.hp1 NA18747.hp2 NA18942.hp2 NA18948.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18985.hp2 NA18994.hp1 NA19000.hp2 NA19011.hp2 NA19063.hp1 NA19091.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0029 a0001c0001t0038 a0001c0001t0045 a0001c0001t0047 a0002c0002t0003 a0002c0005t0006 a0002c0005t0024 a0002c0005t0051 a0006c0013t0013	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 others(43): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0274 a0001c0001t0002g0033 a0001c0001t0002g0077 a0001c0001t0003g0073 a0001c0001t0004g0238 a0001c0001t0007g0269 a0001c0001t0008g0163 a0001c0001t0012g0007 a0001c0001t0012g0038 a0001c0001t0012g0039 a0001c0001t0015g0013 a0001c0001t0015g0049 a0001c0001t0016g0188 a0001c0001t0018g0011 a0001c0001t0018g0051 a0001c0001t0018g0053 a0001c0001t0021g0166 a0001c0001t0029g0068 a0001c0001t0038g0243 a0001c0001t0045g0026 a0001c0001t0047g0023 a0002c0002t0003g0125 a0002c0005t0006g0118 a0002c0005t0024g0121 a0002c0005t0051g0120 a0006c0013t0013g0148	46	278	0.1655	18	c.846 others(33): Show c.846-289_846-272dupGTGTGTGTGTGTGTGTGT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62398088	A A	ATGGTGGT others(11): Show ATGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0077 a0002c0003t0001g0077	1	400	0.0025	18	c.363 others(35): Show c.363-1497_363-1496insCCACCACCACCACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABP1_chr12_120635626_120672324	120654637	C C	CCAGGCCG others(11): Show CCAGGCCGAAGGCAGAGTG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03017.hp2 HG03831.hp2 others(2): Show HG01943.hp2 HG03017.hp2 HG03831.hp2 HG03942.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 others(2): Show a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300	5	418	0.0120	18	c.655 others(35): Show c.655-5182_655-5165dupCCGAAGGCAGAGTGCAGG	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CABP5_chr19_48024383_48049079	48029794	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0245 a0001c0002t0057g0245	1	376	0.0027	18	c.76 others(27): Show c.762_*763insCTCTCTCTCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	762		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029798	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01516.hp2 HG02818.hp1 others(5): Show HG01070.hp2 HG01516.hp2 HG02818.hp1 HG03927.hp2 HG04199.hp2 NA18949.hp1 NA19070.hp1 NA19082.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(2): Show a0001c0001 a0001c0005 a0002c0003 a0002c0006 a0003c0004	a0001c0001t0018 a0001c0005t0060 a0002c0003t0027 others(3): Show a0001c0001t0018 a0001c0005t0060 a0002c0003t0027 a0002c0006t0027 a0002c0006t0053 a0003c0004t0018	a0001c0001t0018g0089 a0001c0005t0060g0183 a0002c0003t0027g0067 others(5): Show a0001c0001t0018g0089 a0001c0005t0060g0183 a0002c0003t0027g0067 a0002c0006t0027g0192 a0002c0006t0053g0191 a0003c0004t0018g0209 a0003c0004t0018g0210 a0003c0004t0018g0211	8	376	0.0213	18	c.74 others(27): Show c.741_*758dupCTCTCTCTCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	758		chr19	TogoVar
CACHD1_chr1_64465129_64698053	64543402	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	166	0.0060	18	c.199 others(35): Show c.199-7185_199-7168dupATATATATATATATATAT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64544174	C C	CAGAGACC others(11): Show CAGAGACCCATAAATAGCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0007 a0001c0002t0005g0007	1	166	0.0060	18	c.199 others(35): Show c.199-6414_199-6397dupCCCATAAATAGCAAGAGA	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(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00597.hp2 others(14): Show HG00099.hp1 HG00140.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01928.hp2 HG02293.hp1 HG02723.hp1 HG02896.hp2 HG02976.hp1 NA19070.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0066 others(14): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0066 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0161 a0001c0001t0002g0143 a0001c0001t0005g0003 a0001c0001t0014g0006 a0001c0002t0001g0018 a0001c0002t0003g0063 a0001c0002t0009g0098 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0002g0124	17	166	0.1024	18	c.517 others(35): Show c.517+3201_517+3218dupACACACACACACACACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64640741	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0115 a0001c0004t0012g0115	1	166	0.0060	18	c.100 others(37): Show c.1007-1071_1007-1054dupATATATATATATATATAT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64681541	G G	GGTTTTTT others(11): Show GGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03516.hp1 HG02896.hp1 HG02897.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0005g0002 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0001t0005g0002 a0001c0003t0001g0078 a0001c0003t0001g0079	3	166	0.0181	18	c.348 others(35): Show c.3484+206_3484+207insGTTTTTTTTTTTTTTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	25/26			chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13294487	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19079.hp1 HG01192.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0019 a0001c0006 a0002c0019	a0001c0006t0001 a0002c0019t0003 a0001c0006t0001 a0002c0019t0003	a0001c0006t0001g0032 a0002c0019t0003g0009 a0001c0006t0001g0032 a0002c0019t0003g0009	2	218	0.0092	18	c.308 others(37): Show c.3089+4039_3089+4056dupAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310483	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0045 a0045	a0045c0036 a0045c0036	a0045c0036t0028 a0045c0036t0028	a0045c0036t0028g0173 a0045c0036t0028g0173	1	218	0.0046	18	c.166 others(37): Show c.1669-1956_1669-1955insATATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0011 a0011	a0011c0043 a0011c0043	a0011c0043t0015 a0011c0043t0015	a0011c0043t0015g0043 a0011c0043t0015g0043	1	218	0.0046	18	c.166 others(37): Show c.1669-1960_1669-1959insATATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336581	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0011 a0011c0025t0011	a0011c0025t0011g0038 a0011c0025t0011g0038	1	218	0.0046	18	c.979 others(33): Show c.979-673_979-672insCTCTCTCTCTCTCTCTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(11): Show GGAGAGAGAGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01192.hp2 HG02040.hp1 others(2): Show HG00438.hp1 HG01192.hp2 HG02040.hp1 NA18944.hp1 NA20129.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0005 a0003c0046 a0003c0054 others(2): Show a0001c0005 a0003c0046 a0003c0054 a0003c0056 a0007c0009	a0001c0005t0001 a0003c0046t0003 a0003c0054t0043 others(2): Show a0001c0005t0001 a0003c0046t0003 a0003c0054t0043 a0003c0056t0003 a0007c0009t0038	a0001c0005t0001g0187 a0003c0046t0003g0116 a0003c0054t0043g0060 others(2): Show a0001c0005t0001g0187 a0003c0046t0003g0116 a0003c0054t0043g0060 a0003c0056t0003g0057 a0007c0009t0038g0153	5	218	0.0229	18	c.979 others(33): Show c.979-686_979-685insTCTCTCTCCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13415743	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02129.hp2 HG01975.hp1 HG02129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0003 a0001c0001t0001 a0007c0009t0003	a0001c0001t0001g0050 a0007c0009t0003g0031 a0001c0001t0001g0050 a0007c0009t0003g0031	2	218	0.0092	18	c.539 others(37): Show c.539+37115_539+37132dupTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02258.hp1 HG02451.hp1 others(6): Show HG01934.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 NA20905.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0011 a0040	a0002c0002 a0002c0101 a0003c0013 others(5): Show a0002c0002 a0002c0101 a0003c0013 a0004c0007 a0005c0024 a0006c0011 a0011c0025 a0040c0069	a0002c0002t0002 a0002c0002t0006 a0002c0101t0006 others(6): Show a0002c0002t0002 a0002c0002t0006 a0002c0101t0006 a0003c0013t0027 a0004c0007t0001 a0005c0024t0008 a0006c0011t0002 a0011c0025t0011 a0040c0069t0014	a0002c0002t0002g0130 a0002c0002t0006g0142 a0002c0101t0006g0150 others(6): Show a0002c0002t0002g0130 a0002c0002t0006g0142 a0002c0101t0006g0150 a0003c0013t0027g0149 a0004c0007t0001g0049 a0005c0024t0008g0214 a0006c0011t0002g0133 a0011c0025t0011g0038 a0040c0069t0014g0040	9	218	0.0413	18	c.539 others(37): Show c.539+19398_539+19415dupTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510188	T T	TGCCTACG others(11): Show TGCCTACGGTGCGCTGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0037 a0001c0072t0037	a0001c0072t0037g0213 a0001c0072t0037g0213	1	218	0.0046	18	c.-39 others(29): Show c.-3965_-3964insCATCAGCGCACCGTAGGC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3710		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137954856	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG02145.hp2 others(8): Show HG01256.hp1 HG01258.hp1 HG02145.hp2 HG02257.hp2 HG02717.hp1 NA18906.hp2 NA18944.hp2 NA18982.hp2 NA18998.hp2 NA19240.hp1 NA20300.hp1	a0001 a0020 a0001 a0020	a0001c0002 a0001c0003 a0001c0022 others(1): Show a0001c0002 a0001c0003 a0001c0022 a0020c0052	a0001c0002t0001 a0001c0002t0008 a0001c0002t0037 others(5): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0037 a0001c0003t0005 a0001c0003t0007 a0001c0003t0043 a0001c0022t0002 a0020c0052t0006	a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0008g0241 others(8): Show a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0008g0241 a0001c0002t0037g0242 a0001c0003t0005g0107 a0001c0003t0005g0130 a0001c0003t0007g0111 a0001c0003t0007g0114 a0001c0003t0043g0127 a0001c0022t0002g0001 a0020c0052t0006g0115	11	248	0.0444	18	c.107 others(35): Show c.1071-835_1071-818dupTGTGTGTGTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137954879	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0091 a0001c0005t0004g0091	1	248	0.0040	18	c.107 others(35): Show c.1071-818_1071-817insTGTGTGTGTGTGAGAGAG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137954879	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00673.hp1 others(18): Show HG00438.hp1 HG00597.hp1 HG00673.hp1 HG01943.hp1 HG03492.hp2 HG04184.hp2 NA18747.hp1 NA18950.hp1 NA18955.hp1 NA18980.hp1 NA18991.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19085.hp2	a0001 a0014 a0016 a0001 a0014 a0016	a0001c0005 a0001c0009 a0001c0015 others(2): Show a0001c0005 a0001c0009 a0001c0015 a0014c0031 a0016c0030	a0001c0005t0004 a0001c0009t0003 a0001c0015t0009 others(2): Show a0001c0005t0004 a0001c0009t0003 a0001c0015t0009 a0014c0031t0002 a0016c0030t0003	a0001c0005t0004g0007 a0001c0005t0004g0028 a0001c0005t0004g0082 others(18): Show a0001c0005t0004g0007 a0001c0005t0004g0028 a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0084 a0001c0005t0004g0085 a0001c0005t0004g0086 a0001c0005t0004g0087 a0001c0005t0004g0089 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0005t0004g0184 a0001c0009t0003g0022 a0001c0009t0003g0092 a0001c0009t0003g0093 a0001c0009t0003g0094 a0001c0009t0003g0095 a0001c0015t0009g0080 a0001c0015t0009g0081 a0014c0031t0002g0113 a0016c0030t0003g0097	21	248	0.0847	18	c.107 others(35): Show c.1071-818_1071-817insTGTGTGTGTGTGTGAGAG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137954879	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02074.hp2 HG02040.hp2 HG02074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0088 a0001c0005t0004g0090 a0001c0005t0004g0088 a0001c0005t0004g0090	2	248	0.0081	18	c.107 others(35): Show c.1071-818_1071-817insTGTGTGTGTGTGTGTGAG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138052249	C C	CGTGTGTG others(11): Show CGTGTGTGCGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp1 HG02896.hp2 others(1): Show HG01891.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1	a0004 a0006 a0004 a0006	a0004c0043 a0006c0014 a0004c0043 a0006c0014	a0004c0043t0009 a0006c0014t0006 a0004c0043t0009 a0006c0014t0006	a0004c0043t0009g0078 a0006c0014t0006g0140 a0006c0014t0006g0142 others(1): Show a0004c0043t0009g0078 a0006c0014t0006g0140 a0006c0014t0006g0142 a0006c0014t0006g0143	4	248	0.0161	18	c.380 others(33): Show c.3807+68_3807+69insCGTGTGTGTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	25/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2107341	G G	GAAGCCGC others(11): Show GAAGCCGCTGGGCGTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02280.hp1 others(5): Show HG01891.hp2 HG02257.hp1 HG02280.hp1 HG03139.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0029 a0002c0013	a0001c0001t0015 a0001c0002t0029 a0001c0003t0037 others(5): Show a0001c0001t0015 a0001c0002t0029 a0001c0003t0037 a0001c0004t0023 a0001c0006t0001 a0001c0010t0008 a0001c0029t0019 a0002c0013t0035	a0001c0001t0015g0030 a0001c0002t0029g0037 a0001c0003t0037g0003 others(5): Show a0001c0001t0015g0030 a0001c0002t0029g0037 a0001c0003t0037g0003 a0001c0004t0023g0028 a0001c0006t0001g0102 a0001c0010t0008g0064 a0001c0029t0019g0060 a0002c0013t0035g0035	8	104	0.0769	18	c.50- others(33): Show c.50-7881_50-7880insGCCGCTGGGCGTCCTTAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2310352	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0084 a0001c0004t0004g0084	1	104	0.0096	18	c.478 others(39): Show c.478-138621_478-138604dupATATATATATATATATAT	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(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp2 HG06807.hp1 others(2): Show HG01496.hp1 HG02273.hp2 HG06807.hp1 NA18989.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0022 a0001c0002t0001 a0001c0003t0010 others(1): Show a0001c0001t0022 a0001c0002t0001 a0001c0003t0010 a0001c0010t0003	a0001c0001t0022g0058 a0001c0002t0001g0036 a0001c0002t0001g0043 others(2): Show a0001c0001t0022g0058 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0003t0010g0019 a0001c0010t0003g0054	5	104	0.0481	18	c.478 others(37): Show c.478-68932_478-68931insAAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2420102	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0025 a0001c0006 a0001c0025	a0001c0006t0001 a0001c0025t0007 a0001c0006t0001 a0001c0025t0007	a0001c0006t0001g0102 a0001c0025t0007g0012 a0001c0006t0001g0102 a0001c0025t0007g0012	2	104	0.0192	18	c.478 others(37): Show c.478-28845_478-28828dupGTGTGTGTGTGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2497969	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03579.hp1 NA18966.hp1 others(1): Show HG03540.hp2 HG03579.hp1 NA18966.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0032 others(1): Show a0001c0001 a0001c0005 a0001c0032 a0002c0013	a0001c0001t0043 a0001c0005t0002 a0001c0032t0031 others(1): Show a0001c0001t0043 a0001c0005t0002 a0001c0032t0031 a0002c0013t0035	a0001c0001t0043g0032 a0001c0005t0002g0090 a0001c0032t0031g0103 others(1): Show a0001c0001t0043g0032 a0001c0005t0002g0090 a0001c0032t0031g0103 a0002c0013t0035g0035	4	104	0.0385	18	c.111 others(37): Show c.1113+4600_1113+4617dupCACACACACACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02083.hp2 NA18982.hp1 HG01891.hp1 HG02083.hp2 NA18982.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0015 a0001c0001 a0001c0003 a0005c0015	a0001c0001t0017 a0001c0003t0023 a0005c0015t0001 a0001c0001t0017 a0001c0003t0023 a0005c0015t0001	a0001c0001t0017g0110 a0001c0003t0023g0046 a0005c0015t0001g0141 a0001c0001t0017g0110 a0001c0003t0023g0046 a0005c0015t0001g0141	3	210	0.0143	18	c.122 others(37): Show c.1220+8563_1220+8580dupAAAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782262	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0026 a0001c0011t0026	a0001c0011t0026g0116 a0001c0011t0026g0116	1	210	0.0048	18	c.485 others(35): Show c.4852+596_4852+597insATATATATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG04204.hp2 HG00280.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0014 a0001c0003t0001 a0001c0004t0014	a0001c0003t0001g0161 a0001c0004t0014g0023 a0001c0003t0001g0161 a0001c0004t0014g0023	2	210	0.0095	18	c.485 others(35): Show c.4852+609_4852+626dupATATATATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02257.hp2 HG02280.hp1 others(3): Show HG02027.hp1 HG02257.hp2 HG02280.hp1 HG02615.hp2 HG03017.hp2 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0016	a0001c0001t0033 a0001c0002t0015 a0001c0002t0051 others(3): Show a0001c0001t0033 a0001c0002t0015 a0001c0002t0051 a0001c0003t0002 a0001c0004t0004 a0002c0016t0059	a0001c0001t0033g0018 a0001c0002t0015g0117 a0001c0002t0051g0121 others(3): Show a0001c0001t0033g0018 a0001c0002t0015g0117 a0001c0002t0051g0121 a0001c0003t0002g0065 a0001c0004t0004g0036 a0002c0016t0059g0208	6	210	0.0286	18	c.485 others(35): Show c.4852+598_4852+599insGTATATATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0201 a0001c0002t0065g0201	1	210	0.0048	18	c.485 others(35): Show c.4852+598_4852+599insGTGTGTATATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53787425	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02896.hp1 HG03041.hp1 others(1): Show HG01934.hp2 HG02896.hp1 HG03041.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0007 a0001c0002t0009 a0001c0004t0001 others(1): Show a0001c0002t0007 a0001c0002t0009 a0001c0004t0001 a0001c0007t0066	a0001c0002t0007g0035 a0001c0002t0009g0210 a0001c0004t0001g0169 others(1): Show a0001c0002t0007g0035 a0001c0002t0009g0210 a0001c0004t0001g0169 a0001c0007t0066g0199	4	210	0.0191	18	c.498 others(35): Show c.4983+485_4983+502dupGTGTGTGTGTGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	41/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53810758	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02083.hp1 HG02071.hp1 HG02083.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0002 a0001c0005t0007 a0001c0004t0002 a0001c0005t0007	a0001c0004t0002g0070 a0001c0005t0007g0174 a0001c0004t0002g0070 a0001c0005t0007g0174	2	210	0.0095	18	c.625 others(35): Show c.6253-344_6253-327dupAAAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	48/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181779819	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03098.hp2 HG03471.hp2 HG01099.hp2 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0008 a0001c0004t0004 a0001c0004t0008	a0001c0004t0004g0072 a0001c0004t0008g0032 a0001c0004t0008g0122 a0001c0004t0004g0072 a0001c0004t0008g0032 a0001c0004t0008g0122	3	206	0.0146	18	c.526 others(37): Show c.5268-1594_5268-1577dupCACACACACACACACACA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	38/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01258.hp2 others(1): Show HG00735.hp1 HG00741.hp1 HG01258.hp2 HG04199.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0004 a0003c0003 a0004c0007 a0001c0004 a0003c0003 a0004c0007	a0001c0004t0002 a0003c0003t0001 a0004c0007t0001 a0001c0004t0002 a0003c0003t0001 a0004c0007t0001	a0001c0004t0002g0071 a0003c0003t0001g0076 a0003c0003t0001g0147 others(1): Show a0001c0004t0002g0071 a0003c0003t0001g0076 a0003c0003t0001g0147 a0004c0007t0001g0016	4	206	0.0194	18	c.620 others(35): Show c.6208+726_6208+743dupATATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1G_chr17_50555715_50632474	50564125	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02897.hp2 HG03579.hp1 others(1): Show HG02486.hp1 HG02897.hp2 HG03579.hp1 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0001c0017 others(1): Show a0001c0001 a0001c0003 a0001c0017 a0008c0023	a0001c0001t0001 a0001c0003t0002 a0001c0017t0002 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0017t0002 a0008c0023t0001	a0001c0001t0001g0074 a0001c0003t0002g0076 a0001c0017t0002g0075 others(1): Show a0001c0001t0001g0074 a0001c0003t0002g0076 a0001c0017t0002g0075 a0008c0023t0001g0073	4	246	0.0163	18	c.242 others(35): Show c.242+2445_242+2462dupGTGTGTGTGTGTGTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50569015	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp2 HG02055.hp1 others(12): Show HG01167.hp1 HG01261.hp2 HG02055.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp2 HG02630.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02976.hp2 HG03130.hp1 HG03225.hp2 HG03516.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0002 a0001c0003 a0001c0007 others(6): Show a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0037 a0002c0009 a0003c0016 a0003c0021 a0009c0029	a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 others(7): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 a0001c0007t0001 a0001c0010t0004 a0001c0037t0001 a0002c0009t0002 a0003c0016t0002 a0003c0021t0002 a0009c0029t0001	a0001c0002t0002g0094 a0001c0003t0001g0067 a0001c0003t0001g0167 others(12): Show a0001c0002t0002g0094 a0001c0003t0001g0067 a0001c0003t0001g0167 a0001c0003t0001g0234 a0001c0003t0004g0218 a0001c0003t0004g0219 a0001c0007t0001g0057 a0001c0010t0004g0220 a0001c0010t0004g0221 a0001c0037t0001g0056 a0002c0009t0002g0132 a0002c0009t0002g0223 a0003c0016t0002g0066 a0003c0021t0002g0127 a0009c0029t0001g0138	15	246	0.0610	18	c.354 others(31): Show c.354+34_354+35insGTGTGTGTGTGTGTGTTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37			chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(43): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01515.hp1 HG01952.hp2 HG01981.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02683.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18954.hp1 NA18973.hp2 NA19002.hp2 NA19056.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0013 a0001c0030 a0001c0031 a0001c0043 a0012c0025	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0006t0001 a0001c0007t0004 a0001c0010t0004 a0001c0011t0001 a0001c0013t0001 a0001c0030t0001 a0001c0031t0001 a0001c0043t0001 a0012c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0102 a0001c0001t0001g0170 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0011g0001 a0001c0002t0001g0084 a0001c0002t0001g0098 a0001c0002t0001g0114 a0001c0002t0001g0211 a0001c0002t0003g0207 a0001c0003t0001g0002 a0001c0003t0001g0067 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0234 a0001c0003t0004g0218 a0001c0003t0004g0219 a0001c0004t0001g0103 a0001c0004t0001g0122 a0001c0005t0001g0054 a0001c0005t0002g0150 a0001c0005t0003g0151 a0001c0005t0003g0160 a0001c0006t0001g0186 a0001c0007t0004g0154 a0001c0010t0004g0220 a0001c0010t0004g0221 a0001c0011t0001g0141 a0001c0011t0001g0193 a0001c0013t0001g0136 a0001c0030t0001g0199 a0001c0031t0001g0070 a0001c0043t0001g0109 a0012c0025t0001g0035	46	246	0.1870	18	c.586 others(33): Show c.586+769_586+786dupTGTGTGTGTGTGTGTGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr17	TogoVar

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