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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CA5A_chr16_87883013_87941529	87937801	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	400	0.0025	34	c.-13 others(45): Show c.-1352_-1351insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding					1273		chr16	TogoVar
CA8_chr8_60180412_60286400	60190938	C C	CACTATAT others(27): Show CACTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02723.hp1 HG01070.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0003t0029 a0001c0001t0016 a0001c0003t0029	a0001c0001t0016g0292 a0001c0003t0029g0088 a0001c0001t0016g0292 a0001c0003t0029g0088	2	344	0.0058	34	c.36 others(49): Show c.36-954_*36-953insTATATATATATATATATATATATATATATA TAGT		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8						chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18747.hp1 NA18947.hp1 others(7): Show HG01943.hp1 NA18747.hp1 NA18947.hp1 NA18955.hp2 NA18962.hp2 NA18990.hp1 NA19056.hp1 NA19068.hp1 NA19072.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 others(7): Show a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0322 a0001c0001t0002g0329 a0001c0002t0005g0131 a0001c0002t0005g0141	10	344	0.0291	34	c.36 others(49): Show c.36-973_*36-972insGTGTGTATATATATATATATATATATATAT ATAT		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8						chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19085.hp2 NA18993.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0013 a0001c0001t0015 a0001c0002t0013	a0001c0001t0015g0219 a0001c0002t0013g0173 a0001c0001t0015g0219 a0001c0002t0013g0173	2	344	0.0058	34	c.36 others(49): Show c.36-973_*36-972insGTGTATATATATATATATATATATATATAT ATAT		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8						chr8	TogoVar
CAB39L_chr13_49303650_49449064	49331951	A A	AAAGACAT others(27): Show AAAGACATGGGGGGGGGGGGGGGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0244 a0002c0003t0002g0244	1	324	0.0031	34	c.829 others(41): Show c.829_830insCCCCCCCCCCCCCCCCCCCCCCCCCCCATGTCTT	p.Phe others(5): Show p.Phe277fs	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/11	1153/3502	829/1014	277/337			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GAGATATA others(27): Show GAGATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	324	0.0031	34	c.565 others(51): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT ATATCT		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10						chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0307	1	324	0.0031	34	c.565 others(51): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT ATATAT		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10						chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346120	T T	TGCTAGAT others(27): Show TGCTAGATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0299 a0001c0001t0004g0299	1	324	0.0031	34	c.565 others(51): Show c.565-1883_565-1882insGATATATATATATATATATATATATATA TCTAGC		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10						chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441244	T T	TATATATA others(27): Show TATATATATATATAATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	324	0.0031	34	c.-24 others(53): Show c.-246+2741_-246+2742insTATATATATATATATATATATTATAT ATATATAT		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10						chr13	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0166 a0001c0001t0021g0166	1	342	0.0029	34	c.115 others(51): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230825712	C C	CTTTTTTT others(27): Show CTTTTTTTTTCTTTTTTTCTTTTTTTTTTTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0021 a0001c0001t0019g0021	1	342	0.0029	34	c.70 others(45): Show c.7008_*7009insTTTTTTTTTCTTTTTTTCTTTTTTTTTTTTTTCT		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding					4638		chr2	TogoVar
CABP5_chr19_48024383_48049079	48028497	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0200 a0003c0004t0014g0200	1	376	0.0027	34	c.20 others(45): Show c.2059_*2060insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding					885		chr19	TogoVar
CACFD1_chr9_133454978_133475848	133460459	A A	AGGGCGGG others(27): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG00738.hp1 others(10): Show HG00609.hp2 HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01081.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG02004.hp1 HG04204.hp2 NA18965.hp2 NA18992.hp2 NA18997.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0005 a0001c0001 a0001c0006 a0005c0005	a0001c0001t0002 a0001c0001t0030 a0001c0006t0034 others(1): Show a0001c0001t0002 a0001c0001t0030 a0001c0006t0034 a0005c0005t0002	a0001c0001t0002g0007 a0001c0001t0030g0007 a0001c0006t0034g0060 others(1): Show a0001c0001t0002g0007 a0001c0001t0030g0007 a0001c0006t0034g0060 a0005c0005t0002g0007	13	420	0.0310	34	c.121 others(49): Show c.121+298_121+299insGGCGGCGGGGGCGGGGGGGCGGCGGGGGCG GGGG		CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(27): Show GGAGAGAGAGGGAGAGGGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0008 a0005c0024t0008	a0005c0024t0008g0214 a0005c0024t0008g0214	1	218	0.0046	34	c.979 others(49): Show c.979-686_979-685insTCTCTCTCTCTCTCTCTCCCTCTCCCTCTC TCTC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13464543	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0034 a0007c0009t0034	a0007c0009t0034g0163 a0007c0009t0034g0163	1	218	0.0046	34	c.294 others(51): Show c.294-9332_294-9331insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510056	A A	AGGGAGGG others(27): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0036 a0036	a0036c0052 a0036c0052	a0036c0052t0006 a0036c0052t0006	a0036c0052t0006g0154 a0036c0052t0006g0154	1	218	0.0046	34	c.-38 others(45): Show c.-3833_-3832insCCCTCCCCCCTCCCTCCCTCCCTCCCTCCCTCCC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3578		chr19	TogoVar
CACNA1D_chr3_53489611_53818733	53543062	T T	TAAAACTT others(27): Show TAAAACTTAAAGTATAATAATAATAAAATTAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02145.hp2 others(3): Show HG01884.hp1 HG02109.hp1 HG02145.hp2 HG02647.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0032 a0001c0001t0067 a0001c0002t0028 others(3): Show a0001c0001t0032 a0001c0001t0067 a0001c0002t0028 a0001c0002t0030 a0001c0002t0034 a0001c0011t0026	a0001c0001t0032g0012 a0001c0001t0067g0045 a0001c0002t0028g0198 others(3): Show a0001c0001t0032g0012 a0001c0001t0067g0045 a0001c0002t0028g0198 a0001c0002t0030g0196 a0001c0002t0034g0197 a0001c0011t0026g0030	6	210	0.0286	34	c.483 others(53): Show c.483+41347_483+41380dupCTTAAAGTATAATAATAATAAAATTA AAAAAAAA		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53543098	A A	AAACTTAA others(27): Show AAACTTAAAGTATAATAATAATAAAATTAAAAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19240.hp1 HG02723.hp1 NA19240.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0029 a0001c0009t0056 a0001c0009t0029 a0001c0009t0056	a0001c0009t0029g0185 a0001c0009t0056g0184 a0001c0009t0029g0185 a0001c0009t0056g0184	2	210	0.0095	34	c.483 others(53): Show c.483+41380_483+41381insCTTAAAGTATAATAATAATAAAATTA AAAAAGAA		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53691830	A A	AATATATA others(27): Show AATATATATTACATATATAATATATATTATATATT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02083.hp2 NA18747.hp1 others(3): Show HG02071.hp2 HG02083.hp2 NA18747.hp1 NA18979.hp2 NA19004.hp1 NA19066.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0015	a0001c0001t0001 a0001c0002t0025 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0002t0025 a0001c0004t0002 a0005c0015t0001	a0001c0001t0001g0175 a0001c0002t0025g0054 a0001c0004t0002g0047 others(3): Show a0001c0001t0001g0175 a0001c0002t0025g0054 a0001c0004t0002g0047 a0001c0004t0002g0052 a0001c0004t0002g0055 a0005c0015t0001g0141	6	210	0.0286	34	c.122 others(55): Show c.1221-10786_1221-10785insTTATATATTATATATATTACATAT ATAATATATA		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1H_chr16_1148106_1226768	1178032	A A	ACCCCATG others(27): Show ACCCCATGGTCCCTCCCCCACCCCGGAACCCCCCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0007 a0008c0009t0007	a0008c0009t0007g0171 a0008c0009t0007g0171	1	338	0.0030	34	c.300 others(53): Show c.300-16931_300-16898dupTCCCTCCCCCACCCCGGAACCCCCCC CCCCATGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1189065	A A	AGGGGAGC others(27): Show AGGGGAGCGCTTACTGCCGCAGAAAGGAGGCTGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG03471.hp2 others(3): Show HG02109.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp2 NA19030.hp1 NA20129.hp2	a0002 a0003 a0008 others(2): Show a0002 a0003 a0008 a0017 a0031	a0002c0002 a0002c0058 a0003c0068 others(3): Show a0002c0002 a0002c0058 a0003c0068 a0008c0056 a0017c0066 a0031c0113	a0002c0002t0001 a0002c0058t0023 a0003c0068t0004 others(3): Show a0002c0002t0001 a0002c0058t0023 a0003c0068t0004 a0008c0056t0038 a0017c0066t0025 a0031c0113t0018	a0002c0002t0001g0042 a0002c0058t0023g0027 a0003c0068t0004g0290 others(3): Show a0002c0002t0001g0042 a0002c0058t0023g0027 a0003c0068t0004g0290 a0008c0056t0038g0224 a0017c0066t0025g0232 a0031c0113t0018g0214	6	338	0.0178	34	c.300 others(51): Show c.300-5903_300-5870dupGAGCGCTTACTGCCGCAGAAAGGAGGCT GGGGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1214137	C C	CGTGAGTG others(27): Show CGTGAGTGTCCCACCCAAGGAGGGGCTGGCGGGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp2 HG03209.hp1 HG03225.hp2	a0008 a0017 a0008 a0017	a0008c0056 a0017c0064 a0008c0056 a0017c0064	a0008c0056t0038 a0017c0064t0032 a0008c0056t0038 a0017c0064t0032	a0008c0056t0038g0224 a0017c0064t0032g0276 a0008c0056t0038g0224 a0017c0064t0032g0276	2	338	0.0059	34	c.492 others(51): Show c.4929+236_4929+269dupGGGAGGTGAGTGTCCCACCCAAGGAGGG GCTGGC		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	27/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596214	T T	TGGGGGGG others(27): Show TGGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0199 a0001c0002t0004g0199	1	236	0.0042	34	c.237 others(51): Show c.237-1935_237-1934insGGGGGGCAGGGCGGAGAGAGATGGGGGG GCAGGG		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	144	0.0069	34	c.355 others(51): Show c.355-1032_355-1031insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82146389	T T	TATATATA others(27): Show TATATATAAAGATATATATTTATATATATCTTTAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp1 HG01258.hp2 others(3): Show HG00642.hp1 HG01123.hp1 HG01258.hp2 HG02109.hp2 HG03098.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0049 a0001c0001t0002g0129 a0001c0001t0003g0034 others(3): Show a0001c0001t0001g0049 a0001c0001t0002g0129 a0001c0001t0003g0034 a0001c0001t0003g0086 a0001c0001t0004g0046 a0001c0001t0009g0065	6	144	0.0417	34	c.355 others(51): Show c.355-9747_355-9714dupGTAAAGATATATATAAATATATATCTTT ATATAT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03579.hp2 HG02809.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0076 a0001c0001t0003g0067 a0001c0001t0003g0076	2	144	0.0139	34	c.295 others(53): Show c.295-46786_295-46785insATATATATATATATATATATATATAT ATATATAT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332510	T T	TAAAGAAA others(27): Show TAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	144	0.0069	34	c.294 others(51): Show c.294+2624_294+2625insCTTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0005 a0001c0036t0005	a0001c0036t0005g0002 a0001c0036t0005g0002	1	118	0.0085	34	c.204 others(53): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGCGCGCGCGCG CGCGCGCG		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54249558	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02258.hp2 HG02615.hp1	a0001 a0001	a0001c0007 a0001c0034 a0001c0007 a0001c0034	a0001c0007t0001 a0001c0034t0001 a0001c0007t0001 a0001c0034t0001	a0001c0007t0001g0043 a0001c0034t0001g0086 a0001c0007t0001g0043 a0001c0034t0001g0086	2	118	0.0170	34	c.205 others(53): Show c.205-70854_205-70853insACACACACACACACACACACACACAC ACACACAC		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATGT others(27): Show GTGTATGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 HG03453.hp1 HG02965.hp2 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0013 a0001c0004 a0001c0005 a0001c0013	a0001c0004t0001 a0001c0005t0001 a0001c0013t0001 a0001c0004t0001 a0001c0005t0001 a0001c0013t0001	a0001c0004t0001g0095 a0001c0005t0001g0088 a0001c0013t0001g0105 a0001c0004t0001g0095 a0001c0005t0001g0088 a0001c0013t0001g0105	3	118	0.0254	34	c.382 others(53): Show c.382-24831_382-24830insGTATGTATATATATATATATATATAT ATATATAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736052	C C	CATATATA others(27): Show CATATATATATGTATATATATATACATACATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0008 a0001c0004t0002g0008	1	118	0.0085	34	c.116 others(55): Show c.1168-16543_1168-16542insATATATGTATATATATATACATAC ATATATATAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736109	G G	GTATGTAT others(27): Show GTATGTATATATATATACATACATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0096 a0001c0029t0001g0096	1	118	0.0085	34	c.116 others(55): Show c.1168-16487_1168-16486insGTATATATATATACATACATATAT GTATGTATAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55033834	A A	ATAATATA others(27): Show ATAATATATATTACATATTAAATATATTTAATATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01175.hp1 HG00099.hp1 HG00639.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0029 a0001c0001 a0001c0005 a0001c0029	a0001c0001t0001 a0001c0005t0001 a0001c0029t0001 a0001c0001t0001 a0001c0005t0001 a0001c0029t0001	a0001c0001t0001g0010 a0001c0005t0001g0111 a0001c0029t0001g0096 a0001c0001t0001g0010 a0001c0005t0001g0111 a0001c0029t0001g0096	3	118	0.0254	34	c.298 others(55): Show c.2987+15550_2987+15551insGTAATATATATTACATATTAAATA TATTTAATAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18335709_18548557	18536243	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	302	0.0033	34	c.114 others(49): Show c.1140+77_1140+78insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536246	T T	TTCTTTTT others(27): Show TTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0194 a0001c0002t0004g0194	1	302	0.0033	34	c.114 others(49): Show c.1140+51_1140+52insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(27): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG02040.hp1 HG02055.hp1 others(3): Show HG01257.hp1 HG02040.hp1 HG02055.hp1 HG02083.hp2 NA19002.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0071 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0071 a0001c0001t0075 a0001c0001t0082	a0001c0001t0003g0145 a0001c0001t0003g0166 a0001c0001t0006g0153 others(3): Show a0001c0001t0003g0145 a0001c0001t0003g0166 a0001c0001t0006g0153 a0001c0001t0071g0137 a0001c0001t0075g0143 a0001c0001t0082g0152	6	214	0.0280	34	c.-11 others(45): Show c.-1185_-1184insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGCGAG		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding					9		chr22	TogoVar
CACNG6_chr19_53986637_54017666	54006517	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0153 a0004c0006t0002g0153	1	430	0.0023	34	c.545 others(51): Show c.545-5430_545-5429insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0082 a0001c0001t0012g0082	1	430	0.0023	34	c.545 others(49): Show c.545-745_545-744insAAAAAAAAAAAAAAAATATATATATATATA TATA		CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19007.hp1 NA19067.hp2 others(1): Show NA18984.hp2 NA19007.hp1 NA19067.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0322 a0001c0001t0007g0016 a0001c0001t0007g0395 a0001c0001t0001g0322 a0001c0001t0007g0016 a0001c0001t0007g0395	4	430	0.0093	34	c.545 others(49): Show c.545-745_545-744insAAAATATATATATATATATATATATATATA TATA		CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53946574	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0025	1	364	0.0028	34	c.42 others(45): Show c.4281_*4282insTCTCTCTCTCTCTCTCTATATATATATATATATA		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding					2625		chr19	TogoVar
CADM1_chr11_115164236_115509415	115284087	A A	ACTCTCTC others(27): Show ACTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp2 HG02559.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0042 a0001c0001t0003g0047	2	164	0.0122	34	c.125 others(53): Show c.125-43668_125-43667insAGAGAGAGAGGGAGAGAGAGAGAGAG AGAGAGAG		CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11						chr11	TogoVar
CADM1_chr11_115164236_115509415	115284087	A A	ACTCTCTC others(27): Show ACTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0142 a0001c0001t0042g0142	1	164	0.0061	34	c.125 others(53): Show c.125-43668_125-43667insAGAGAGAGGGAGAGAGAGAGAGAGAG AGAGAGAG		CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11						chr11	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(27): Show TATATACATATATACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	164	0.0061	34	c.125 others(53): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATGTATAT		CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11						chr11	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(27): Show TATATACATATATACGTGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02970.hp2 NA20129.hp1 HG02486.hp1 HG02970.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0046 a0001c0001t0001 a0001c0001t0046	a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0046g0135 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0046g0135	3	164	0.0183	34	c.125 others(53): Show c.125-88284_125-88283insGTATATACATATATATACACGTATAT ATGTATAT		CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11						chr11	TogoVar
CADM2_chr3_84953989_86079429	85014090	G G	GTAATAAT others(27): Show GTAATAATATTGTATATTATATATACGCAGTGTAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	146	0.0069	34	c.61+ others(51): Show c.61+54425_61+54426insTAATATTGTATATTATATATACGCAGTG TAATAA		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85199370	T T	TGTGTGAG others(27): Show TGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0133 a0001c0001t0015g0133	1	146	0.0069	34	c.61+ others(53): Show c.61+239703_61+239704insTGTGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85354618	C C	CAGAGAGA others(27): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	146	0.0069	34	c.62- others(53): Show c.62-371879_62-371878insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0071 a0001c0001t0005g0071	1	146	0.0069	34	c.62- others(53): Show c.62-366855_62-366854insATATATATATATATATATATATATTT TTTTTTTT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0097 a0001c0001t0020g0097	1	146	0.0069	34	c.62- others(53): Show c.62-294650_62-294649insATATATATATATATATATATATATAT ATATATAT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATGTA others(27): Show CATATGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp2 HG02129.hp1 others(1): Show HG00738.hp1 HG01243.hp2 HG02129.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0035 a0001c0001t0001 a0001c0001t0020 a0001c0001t0035	a0001c0001t0001g0080 a0001c0001t0001g0103 a0001c0001t0020g0043 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0103 a0001c0001t0020g0043 a0001c0001t0035g0036	4	146	0.0274	34	c.62- others(53): Show c.62-294658_62-294657insGTATATATATATATATATATATATAT ATATATAT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar

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