Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
C9_chr5_39279140_39369495	39282138	T T	TTTTCTTT others(23): Show TTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18943.hp2 NA18953.hp1 others(3): Show NA18612.hp1 NA18943.hp2 NA18953.hp1 NA18969.hp2 NA19083.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0005 a0001c0001t0001 a0003c0003t0005	a0001c0001t0001g0001 a0001c0001t0001g0148 a0001c0001t0001g0254 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0148 a0001c0001t0001g0254 a0001c0001t0001g0262 a0003c0003t0005g0219	6	394	0.0152	30	c.30 others(41): Show c.3060_*3061insGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding		2001		chr5	TogoVar
C9_chr5_39279140_39369495	39333554	A A	ATCTCCCT others(23): Show ATCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0310 a0002c0002t0001g0310	1	394	0.0025	30	c.477 others(47): Show c.477-1741_477-1740insGGGAGAGGGAGAGGGAGAGGGAGAGGGA GA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/10			chr5	TogoVar
C9_chr5_39279140_39369495	39359102	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0358 a0002c0002t0001g0358	1	394	0.0025	30	c.77+ others(45): Show c.77+5285_77+5286insTATATATATATATATATATATATACACACA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9orf152_chr9_110194561_110213159	110209892	A A	AAAGAAAA others(23): Show AAAGAAAAGAGAAGAGAAGAGAAGAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	466	0.0022	30	c.-23 others(41): Show c.-2314_-2313insCTCTTCTCTTCTCTTCTCTTCTCTTTTCTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1734		chr9	TogoVar
C9orf152_chr9_110194561_110213159	110209892	A A	AAAGAGAA others(23): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01255.hp2 others(23): Show HG00140.hp1 HG00741.hp1 HG01255.hp2 HG01261.hp2 HG01515.hp2 HG01934.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02735.hp2 HG04184.hp1 NA18940.hp2 NA18952.hp1 NA18963.hp1 NA18974.hp2 NA18980.hp1 NA18997.hp1 NA19059.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19084.hp2 NA19090.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0039 a0001c0002t0007 a0001c0003t0013 a0003c0007t0008	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0023 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0008g0009 a0001c0001t0008g0017 a0001c0001t0012g0018 a0001c0001t0014g0014 a0001c0001t0017g0022 a0001c0001t0039g0102 a0001c0002t0007g0066 a0001c0003t0013g0090 a0003c0007t0008g0080	26	466	0.0558	30	c.-23 others(41): Show c.-2314_-2313insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1734		chr9	TogoVar
C9orf152_chr9_110194561_110213159	110209936	A A	AGAAGAGA others(23): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0157 a0001c0002t0046g0157	1	466	0.0022	30	c.-23 others(41): Show c.-2358_-2357insGCTTCTCTTCTCTTCTCTTCTCTTCTCTTC	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1778		chr9	TogoVar
C9orf153_chr9_86215265_86264657	86231600	T T	TATATATA others(23): Show TATATATATATATATACATGTATGTATATGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02615.hp1 HG02717.hp2 others(3): Show HG01255.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG03130.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0009 a0002c0002t0005 a0002c0002t0009	a0002c0002t0005g0188 a0002c0002t0005g0250 a0002c0002t0005g0252 others(3): Show a0002c0002t0005g0188 a0002c0002t0005g0250 a0002c0002t0005g0252 a0002c0002t0005g0253 a0002c0002t0005g0318 a0002c0002t0009g0039	6	384	0.0156	30	c.-26 others(47): Show c.-26-2001_-26-1972dupGCATATACATACATGTATATATATATAT AT	C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3			chr9	TogoVar
C9orf72_chr9_27541546_27578481	27573523	C C	CGCCCCGG others(23): Show CGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp2 others(33): Show HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00735.hp2 HG01081.hp1 HG01261.hp1 HG01361.hp2 HG01975.hp1 HG02074.hp2 HG02083.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03927.hp1 HG04199.hp1 NA18946.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18986.hp2 NA18992.hp2 NA18997.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19068.hp2 NA19072.hp1 NA19075.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0002t0002 a0001c0004t0003	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0039 others(26): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0009g0040 a0001c0001t0017g0165 a0001c0002t0002g0050 a0001c0004t0003g0139	36	438	0.0822	30	c.-13 others(39): Show c.-138_-137insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC	C9orf72	ENSG00000147894.17	transcript	ENST00000380003.8	protein_coding		43		chr9	TogoVar
CA12_chr15_63316378_63386846	63376600	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	356	0.0028	30	c.86- others(43): Show c.86-923_86-922insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA5A_chr16_87883013_87941529	87937801	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	400	0.0025	30	c.-13 others(41): Show c.-1352_-1351insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1273		chr16	TogoVar
CA8_chr8_60180412_60286400	60190938	C C	CACTATAT others(23): Show CACTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp1 HG03540.hp1 HG02572.hp2 HG02895.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0043 a0002c0004t0019 a0001c0002t0043 a0002c0004t0019	a0001c0002t0043g0119 a0002c0004t0019g0082 a0002c0004t0019g0083 a0001c0002t0043g0119 a0002c0004t0019g0082 a0002c0004t0019g0083	3	344	0.0087	30	c.36 others(45): Show c.36-954_*36-953insTATATATATATATATATATATATATATAGT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp1 NA20129.hp1 HG01884.hp1 HG02886.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0006 a0001c0005t0021 a0001c0003t0006 a0001c0005t0021	a0001c0003t0006g0018 a0001c0003t0006g0026 a0001c0005t0021g0091 a0001c0003t0006g0018 a0001c0003t0006g0026 a0001c0005t0021g0091	3	344	0.0087	30	c.36 others(45): Show c.36-973_*36-972insGTGTGTGTATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01106.hp2 others(12): Show HG00738.hp2 HG01069.hp2 HG01106.hp2 HG01243.hp2 HG01934.hp1 HG02074.hp1 HG03490.hp2 NA18747.hp2 NA18953.hp1 NA18963.hp2 NA18982.hp2 NA18985.hp2 NA19079.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0049 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0049 a0001c0002t0005 a0001c0002t0035	a0001c0001t0002g0224 a0001c0001t0002g0301 a0001c0001t0002g0310 others(12): Show a0001c0001t0002g0224 a0001c0001t0002g0301 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0006g0055 a0001c0001t0006g0067 a0001c0001t0006g0077 a0001c0001t0049g0264 a0001c0002t0005g0095 a0001c0002t0005g0170 a0001c0002t0005g0187 a0001c0002t0005g0198 a0001c0002t0005g0200 a0001c0002t0035g0193	15	344	0.0436	30	c.36 others(45): Show c.36-973_*36-972insGTGTGTATATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02258.hp2 HG03471.hp2 HG02071.hp1 HG02258.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0013 a0001c0002t0044 a0001c0001t0018 a0001c0002t0013 a0001c0002t0044	a0001c0001t0018g0016 a0001c0002t0013g0182 a0001c0002t0044g0197 a0001c0001t0018g0016 a0001c0002t0013g0182 a0001c0002t0044g0197	3	344	0.0087	30	c.36 others(45): Show c.36-973_*36-972insGTGTATATATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0204 a0001c0002t0047g0204	1	344	0.0029	30	c.36 others(45): Show c.36-973_*36-972insGTATATATATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAAP1_chr9_26835685_26897802	26872553	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0025 a0007c0006t0001g0025	1	372	0.0027	30	c.666 others(49): Show c.666-11415_666-11414insATATATATATATATATATATATATAT ATAT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346085	T T	TATATATA others(23): Show TATATATATGCTAGATATATATATATGCTAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03490.hp2 HG03834.hp1 others(1): Show HG03225.hp2 HG03490.hp2 HG03834.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0094 a0001c0001t0001g0239 a0001c0001t0002g0319 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0239 a0001c0001t0002g0319 a0001c0001t0003g0019	4	324	0.0124	30	c.565 others(47): Show c.565-1848_565-1847insGTAGCATATATATATATCTAGCATATAT AT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GAGATATA others(23): Show GAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp2 HG00140.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0204 a0001c0002t0003g0014 a0001c0002t0001g0204 a0001c0002t0003g0014	2	324	0.0062	30	c.565 others(47): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT CT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp1 HG02148.hp2 others(17): Show HG01175.hp2 HG01981.hp1 HG02148.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp1 NA18946.hp1 NA18946.hp2 NA18960.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18994.hp2 NA19004.hp2 NA19007.hp2 NA19063.hp2 NA19066.hp2 NA19085.hp2 NA19091.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0002c0003t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0002	a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0082 others(17): Show a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0082 a0001c0002t0001g0086 a0001c0002t0001g0145 a0001c0002t0001g0180 a0001c0002t0001g0205 a0001c0002t0001g0218 a0001c0002t0001g0269 a0001c0002t0001g0291 a0001c0002t0001g0301 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0093 a0001c0002t0002g0125 a0001c0002t0002g0179 a0001c0002t0002g0192 a0001c0002t0002g0224 a0001c0002t0002g0226 a0002c0003t0002g0244	20	324	0.0617	30	c.565 others(47): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT AT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	342	0.0029	30	c.115 others(47): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABLES2_chr20_62383634_62412285	62397916	A A	AGTGGTGA others(23): Show AGTGGTGATGGTGGTGGTGGTGATGGCGGTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA20905.hp1 HG02602.hp2 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0037	2	400	0.0050	30	c.363 others(47): Show c.363-1325_363-1324insCACCGCCATCACCACCACCACCATCACC AC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62397979	G G	GATGGCGG others(23): Show GATGGCGGTGGTGGTGATGATGGTGATGGTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19087.hp1 NA18947.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	400	0.0050	30	c.363 others(47): Show c.363-1417_363-1388dupAACCATCACCATCATCACCACCACCGCC AT	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398088	A A	ATGGTGGT others(23): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19074.hp1 NA18986.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0147 a0001c0001t0001g0158	2	400	0.0050	30	c.363 others(47): Show c.363-1497_363-1496insCCATCACCACCACCACCACCACCACCAC CA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398097	G G	GTGACAGT others(23): Show GTGACAGTGATGGTGATGGTGGTGATGGCGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0206 a0001c0005t0004g0206	1	400	0.0025	30	c.363 others(47): Show c.363-1506_363-1505insTCGCCATCACCACCATCACCATCACTGT CA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABP5_chr19_48024383_48049079	48025655	A A	ACCTCCTT others(23): Show ACCTCCTTCTCCTCCTCCCTCTCCTTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01358.hp1 HG02055.hp2 others(22): Show HG01106.hp1 HG01358.hp1 HG02055.hp2 HG02129.hp1 HG02165.hp2 HG02486.hp2 HG02572.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG03471.hp1 HG03490.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp2 NA19000.hp1 NA19004.hp2 NA19074.hp1 NA19084.hp1 NA20129.hp2 NA20805.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0008	a0001c0001 a0001c0002 a0004c0007 others(2): Show a0001c0001 a0001c0002 a0004c0007 a0006c0009 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0002t0010 a0004c0007t0074 a0004c0007t0076 a0006c0009t0022 a0008c0012t0001	a0001c0001t0001g0011 a0001c0001t0001g0102 a0001c0001t0002g0269 others(19): Show a0001c0001t0001g0011 a0001c0001t0001g0102 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0003g0007 a0001c0001t0003g0027 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0199 a0001c0001t0007g0021 a0001c0001t0007g0026 a0001c0001t0007g0136 a0001c0001t0015g0261 a0001c0002t0010g0232 a0001c0002t0010g0233 a0004c0007t0074g0227 a0004c0007t0076g0225 a0006c0009t0022g0083 a0008c0012t0001g0041	25	376	0.0665	30	c.49 others(41): Show c.4901_*4902insAGGAGAAGGAGAGGGAGGAGGAGAAGGAGG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		3727		chr19	TogoVar
CABP5_chr19_48024383_48049079	48028497	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0068 a0003c0004t0068	a0003c0004t0068g0218 a0003c0004t0068g0218	1	376	0.0027	30	c.20 others(41): Show c.2059_*2060insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		885		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310515	T T	TATATATA others(23): Show TATATATATATATATATATATATGGAGAGAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	218	0.0046	30	c.166 others(49): Show c.1669-1988_1669-1987insCTCTCTCCATATATATATATATATAT ATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(23): Show GGAGAGAGAGGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02273.hp2 HG00544.hp1 HG02273.hp2	a0004 a0012 a0004 a0012	a0004c0080 a0012c0023 a0004c0080 a0012c0023	a0004c0080t0009 a0012c0023t0003 a0004c0080t0009 a0012c0023t0003	a0004c0080t0009g0129 a0012c0023t0003g0180 a0004c0080t0009g0129 a0012c0023t0003g0180	2	218	0.0092	30	c.979 others(45): Show c.979-686_979-685insTCTCTCTCTCTCTCTCTCTCCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13360265	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02165.hp2 HG02293.hp1 others(4): Show HG01496.hp2 HG02165.hp2 HG02293.hp1 NA18964.hp2 NA18998.hp2 NA19012.hp2 NA19084.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0030 a0031	a0001c0001 a0002c0002 a0002c0010 others(4): Show a0001c0001 a0002c0002 a0002c0010 a0005c0024 a0006c0029 a0030c0062 a0031c0061	a0001c0001t0001 a0002c0002t0002 a0002c0010t0002 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0010t0002 a0005c0024t0006 a0006c0029t0003 a0030c0062t0002 a0031c0061t0003	a0001c0001t0001g0182 a0002c0002t0002g0011 a0002c0010t0002g0064 others(4): Show a0001c0001t0001g0182 a0002c0002t0002g0011 a0002c0010t0002g0064 a0005c0024t0006g0117 a0006c0029t0003g0169 a0030c0062t0002g0124 a0031c0061t0003g0106	7	218	0.0321	30	c.785 others(45): Show c.785-467_785-466insTATATATATATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	5/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0028 a0028	a0028c0119 a0028c0119	a0028c0119t0026 a0028c0119t0026	a0028c0119t0026g0131 a0028c0119t0026g0131	1	218	0.0046	30	c.539 others(49): Show c.539+19415_539+19416insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138094457	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0008 a0001c0013t0008	a0001c0013t0008g0066 a0001c0013t0008g0066	1	248	0.0040	30	c.509 others(49): Show c.5095-2025_5095-2024insAAAAAAAAAAAAAAAAAAAAAAAAGA AGAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	246	0.0041	30	c.586 others(45): Show c.586+757_586+786dupTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1I_chr22_39565753_39694735	39686621	T T	TATGCATA others(23): Show TATGCATATATATATATATATATATATATGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0153 a0001c0001t0050g0153	1	236	0.0042	30	c.21 others(39): Show c.218_*219insGCATATATATATATATATATATATATGCAT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	37/37	219	INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39686627	C C	CATATATA others(23): Show CATATATATATATATATATATATATATGCAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0024 a0004c0006t0024	a0004c0006t0024g0217 a0004c0006t0024g0217	1	236	0.0042	30	c.24 others(39): Show c.249_*250insCATATATATATATATATATATATATATATG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	37/37	250	INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82055930	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03834.hp2 HG01123.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0049 a0001c0001t0006g0142 a0001c0001t0001g0049 a0001c0001t0006g0142	2	144	0.0139	30	c.879 others(47): Show c.879+4497_879+4498insTATATATATATATATATATATATATATA TA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82111347	T T	TATATATG others(23): Show TATATATGTGTATATATGTATATATATATTC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG04184.hp2 NA18961.hp2 others(4): Show HG02683.hp1 HG04184.hp2 NA18961.hp2 NA18981.hp1 NA19007.hp2 NA19060.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0002t0001	a0001c0001t0002g0100 a0001c0001t0002g0141 a0001c0001t0004g0050 others(4): Show a0001c0001t0002g0100 a0001c0001t0002g0141 a0001c0001t0004g0050 a0001c0001t0006g0115 a0001c0001t0006g0124 a0001c0001t0014g0048 a0001c0002t0001g0030	7	144	0.0486	30	c.526 others(47): Show c.526+5667_526+5696dupGAATATATATATACATATATACACATAT AT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03130.hp2 HG02895.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0011g0028 a0001c0002t0001g0064 a0001c0001t0011g0028 a0001c0002t0001g0064	2	144	0.0139	30	c.355 others(47): Show c.355-1032_355-1031insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217394	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	144	0.0069	30	c.295 others(49): Show c.295-46815_295-46786dupATATATATATATATATATATATATAT ATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82291312	A A	ATATACAT others(23): Show ATATACATCTATTTAGATATATAGATATCTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0102 a0001c0001t0012g0102	1	144	0.0069	30	c.294 others(49): Show c.294+43793_294+43822dupAAGATATCTATATATCTAAATAGATG TATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332510	T T	TAAAGAAA others(23): Show TAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 NA18522.hp1 HG01167.hp1 HG01169.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0004g0021 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0004g0021	3	144	0.0208	30	c.294 others(47): Show c.294+2624_294+2625insCTTTCTTTCTTTCTCTTTCTTTCTTTCT TT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0069 a0001c0024t0001g0069	1	118	0.0085	30	c.204 others(49): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGTGTGTGTGCG CGCG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0018 a0001c0023t0001g0018	1	118	0.0085	30	c.204 others(49): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGTGTGTGTGTG CGCG	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(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp2 HG01934.hp1 HG01934.hp2	a0001 a0001	a0001c0010 a0001c0028 a0001c0010 a0001c0028	a0001c0010t0006 a0001c0028t0001 a0001c0010t0006 a0001c0028t0001	a0001c0010t0006g0062 a0001c0028t0001g0090 a0001c0010t0006g0062 a0001c0028t0001g0090	2	118	0.0170	30	c.205 others(49): Show c.205-70883_205-70854dupACACACACACACACACACACACACAC ACAC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATAT others(23): Show GTGTATATATATATATATTGCTATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp2 HG02922.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0038 a0001c0001 a0001c0038	a0001c0001t0003 a0001c0038t0010 a0001c0001t0003 a0001c0038t0010	a0001c0001t0003g0058 a0001c0038t0010g0059 a0001c0001t0003g0058 a0001c0038t0010g0059	2	118	0.0170	30	c.382 others(49): Show c.382-24831_382-24830insGTATATATATATATATTGCTATATAT ATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54809311	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG06807.hp2 HG01192.hp2 HG06807.hp2	a0001 a0001	a0001c0006 a0001c0030 a0001c0006 a0001c0030	a0001c0006t0007 a0001c0030t0001 a0001c0006t0007 a0001c0030t0001	a0001c0006t0007g0098 a0001c0030t0001g0028 a0001c0006t0007g0098 a0001c0030t0001g0028	2	118	0.0170	30	c.138 others(49): Show c.1381-7524_1381-7523insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883799	A A	ATCTCTCT others(23): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03225.hp1 HG04204.hp2 HG00280.hp1 HG03225.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0015 a0001c0001 a0001c0006 a0001c0015	a0001c0001t0001 a0001c0006t0001 a0001c0015t0001 a0001c0001t0001 a0001c0006t0001 a0001c0015t0001	a0001c0001t0001g0118 a0001c0006t0001g0017 a0001c0015t0001g0072 a0001c0001t0001g0118 a0001c0006t0001g0017 a0001c0015t0001g0072	3	118	0.0254	30	c.191 others(49): Show c.1913-1458_1913-1457insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55033718	A A	ATATATTA others(23): Show ATATATTAAATATATTTTATATAATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	118	0.0085	30	c.298 others(51): Show c.2987+15416_2987+15445dupTTTATATAATATATATTATATTAA ATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18307983	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0029 a0001c0001t0011g0029	1	200	0.0050	30	c.214 others(49): Show c.214-93914_214-93913insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAATAA others(23): Show TAAAATAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	200	0.0050	30	c.334 others(49): Show c.334-33933_334-33932insTAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18999.hp1 NA18967.hp2 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0040 a0001c0002t0004 a0001c0002t0040	a0001c0002t0004g0098 a0001c0002t0040g0097 a0001c0002t0004g0098 a0001c0002t0040g0097	2	302	0.0066	30	c.172 others(49): Show c.172-33915_172-33914insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar

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