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
CBX7_chr22_39125772_39157680	39145718	A A	AGGGGGCG others(5): Show AGGGGGCGGGGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02109.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0052 a0001c0001t0014g0054 a0001c0001t0014g0052 a0001c0001t0014g0054	2	380	0.0053	12	c.113 others(29): Show c.113+4059_113+4070dupGCCCCCGCCCCC	CBX7	ENSG00000100307.13	transcript	ENST00000216133.10	protein_coding	2/5			chr22	TogoVar
CBX7_chr22_39125772_39157680	39154087	A A	AAGAAAAA others(5): Show AAGAAAAATGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0210 a0001c0001t0027g0210	1	380	0.0026	12	c.-16 others(23): Show c.-1644_-1643insCTTCATTTTTCT	CBX7	ENSG00000100307.13	transcript	ENST00000216133.10	protein_coding		1408		chr22	TogoVar
CBY1_chr22_38651638_38678850	38672458	A A	AGCTGGGA others(5): Show AGCTGGGATCTAG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0170 a0001c0001t0007g0170	1	384	0.0026	12	c.304 others(27): Show c.304-699_304-698insTGGGATCTAGGC	CBY1	ENSG00000100211.12	transcript	ENST00000216029.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
CBY3_chr5_179673560_179686034	179676225	T T	TACACACA others(5): Show TACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG02723.hp1 others(1): Show HG02622.hp2 HG02717.hp1 HG02723.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	4	412	0.0097	12	c.23 others(23): Show c.2357_*2358insGTGTGTGTGTGT	CBY3	ENSG00000204659.5	transcript	ENST00000376974.5	protein_coding		2334		chr5	TogoVar
CBY3_chr5_179673560_179686034	179684926	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02055.hp2 HG02135.hp2 others(6): Show HG00438.hp1 HG02055.hp2 HG02135.hp2 HG02559.hp1 HG02886.hp1 HG02965.hp2 HG03490.hp1 HG03579.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0002 a0001c0001t0001g0005	9	412	0.0218	12	c.-40 others(23): Show c.-4020_-4009dupAAAAAAAAAAAA	CBY3	ENSG00000204659.5	transcript	ENST00000376974.5	protein_coding		3893		chr5	TogoVar
CC2D1A_chr19_13901201_13935879	13925933	A A	AAAATATA others(5): Show AAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0151 a0001c0006t0001g0151	1	370	0.0027	12	c.194 others(29): Show c.1941-583_1941-582insAATATATATATA	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13925933	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0286 a0001c0006t0001g0286	1	370	0.0027	12	c.194 others(29): Show c.1941-568_1941-557dupTATATATATATA	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CC2D2A_chr4_15464882_15606552	15470649	A A	ATCTCTCT others(5): Show ATCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	344	0.0029	12	c.-19 others(27): Show c.-19+622_-19+633dupCTCTCTCTCTCT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15493245	A A	ATTATTTA others(5): Show ATTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp1 HG01346.hp1 others(12): Show HG01099.hp2 HG01192.hp1 HG01346.hp1 HG01952.hp1 HG02040.hp2 HG02080.hp1 HG02293.hp1 NA18612.hp2 NA18747.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19086.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0009 a0001c0001 a0001c0006 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0005c0009t0002	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 others(12): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0006t0001g0294 a0005c0009t0002g0066 a0005c0009t0002g0113 a0005c0009t0002g0114	15	344	0.0436	12	c.248 others(29): Show c.248-9168_248-9157dupTTTATTTATTTA	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15500099	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02258.hp2 HG02615.hp1 others(2): Show HG00733.hp2 HG02258.hp2 HG02615.hp1 NA18945.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0229 others(2): Show a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0229 a0001c0001t0002g0291 a0001c0001t0002g0301	5	344	0.0145	12	c.248 others(29): Show c.248-2329_248-2328insATATATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15500107	G G	GTGTGTAT others(5): Show GTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp1 HG01952.hp1 others(1): Show HG01099.hp2 HG01192.hp1 HG01952.hp1 NA19067.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0002 a0005c0009t0002 a0001c0001t0002 a0005c0009t0002	a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0060 others(1): Show a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0060 a0005c0009t0002g0113	4	344	0.0116	12	c.248 others(29): Show c.248-2321_248-2320insGTGTATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2B_chr10_95902975_96038745	95905819	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01928.hp2 HG02055.hp2 others(18): Show HG00438.hp2 HG01928.hp2 HG02055.hp2 HG02109.hp2 HG02630.hp2 HG02970.hp1 HG02970.hp2 HG03516.hp1 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18954.hp2 NA18955.hp2 NA18969.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19067.hp2 NA19078.hp2 NA19079.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0008	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0006c0008t0001	a0001c0001t0001g0070 a0001c0001t0001g0113 a0001c0001t0001g0114 others(18): Show a0001c0001t0001g0070 a0001c0001t0001g0113 a0001c0001t0001g0114 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0111 a0003c0003t0001g0062 a0003c0003t0001g0067 a0003c0003t0001g0069 a0003c0003t0001g0089 a0003c0003t0001g0094 a0003c0003t0001g0097 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0002g0077 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0129 a0004c0004t0001g0167 a0006c0008t0001g0063 a0006c0008t0001g0118	21	312	0.0673	12	c.-22 others(23): Show c.-2262_-2261insAAAAAAAAAAAA	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding		2155		chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95926815	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02056.hp1 HG02109.hp2 others(21): Show HG01261.hp1 HG02056.hp1 HG02109.hp2 HG02165.hp2 HG02723.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03710.hp1 NA18906.hp1 NA18946.hp1 NA18955.hp2 NA18969.hp1 NA18975.hp2 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA19003.hp2 NA19057.hp2 NA19063.hp1 NA19091.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0012 a0020	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0009c0012 a0012c0015 a0020c0031	a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 others(4): Show a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0009c0012t0001 a0012c0015t0001 a0020c0031t0001	a0001c0001t0002g0121 a0002c0002t0001g0111 a0003c0003t0001g0072 others(21): Show a0001c0001t0002g0121 a0002c0002t0001g0111 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0102 a0003c0003t0001g0122 a0003c0003t0002g0077 a0003c0003t0002g0129 a0009c0012t0001g0080 a0009c0012t0001g0081 a0009c0012t0001g0082 a0009c0012t0001g0083 a0012c0015t0001g0086 a0020c0031t0001g0123	24	312	0.0769	12	c.241 others(27): Show c.241-401_241-390dupGTGTGTGTGTGT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	5/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95926846	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01952.hp1 HG02004.hp1 others(9): Show HG00597.hp2 HG01952.hp1 HG02004.hp1 HG03710.hp2 NA18950.hp1 NA18970.hp1 NA18973.hp2 NA18980.hp1 NA18988.hp1 NA19062.hp2 NA19072.hp2 NA19240.hp2	a0002 a0004 a0010 others(1): Show a0002 a0004 a0010 a0028	a0002c0002 a0002c0005 a0004c0004 others(2): Show a0002c0002 a0002c0005 a0004c0004 a0010c0011 a0028c0022	a0002c0002t0001 a0002c0005t0001 a0004c0004t0001 others(2): Show a0002c0002t0001 a0002c0005t0001 a0004c0004t0001 a0010c0011t0002 a0028c0022t0001	a0002c0002t0001g0176 a0002c0005t0001g0158 a0004c0004t0001g0159 others(9): Show a0002c0002t0001g0176 a0002c0005t0001g0158 a0004c0004t0001g0159 a0004c0004t0001g0160 a0004c0004t0001g0161 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0165 a0004c0004t0001g0175 a0004c0004t0001g0269 a0010c0011t0002g0166 a0028c0022t0001g0164	12	312	0.0385	12	c.241 others(27): Show c.241-390_241-389insGTGTGTGTGTCT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	5/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95947078	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01192.hp1 others(6): Show HG00140.hp2 HG00738.hp1 HG01192.hp1 HG02896.hp1 HG03491.hp1 HG03492.hp1 NA18522.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0005 a0008 a0016 a0005 a0008 a0016	a0005c0006 a0008c0010 a0016c0019 a0005c0006 a0008c0010 a0016c0019	a0005c0006t0001 a0008c0010t0001 a0016c0019t0008 a0005c0006t0001 a0008c0010t0001 a0016c0019t0008	a0005c0006t0001g0137 a0005c0006t0001g0138 a0005c0006t0001g0139 others(6): Show a0005c0006t0001g0137 a0005c0006t0001g0138 a0005c0006t0001g0139 a0005c0006t0001g0140 a0005c0006t0001g0212 a0005c0006t0001g0213 a0008c0010t0001g0051 a0008c0010t0001g0136 a0016c0019t0008g0144	9	312	0.0289	12	c.802 others(29): Show c.802-2813_802-2812insAAAAAAAAAAAA	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	9/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95965785	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0162 a0004c0004t0001g0162	1	312	0.0032	12	c.125 others(27): Show c.1251-85_1251-74dupGTGTGTGTGTGT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	12/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95993946	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0042 a0004c0004t0001g0042	1	312	0.0032	12	c.264 others(31): Show c.2642+1252_2642+1253insATATATATATAT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	96003021	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	312	0.0032	12	c.285 others(31): Show c.2850-1119_2850-1108dupTATATATATATA	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	24/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	96003586	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01361.hp1 others(3): Show HG01256.hp2 HG01258.hp1 HG01361.hp1 HG02109.hp2 NA18950.hp1 NA18980.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0002c0005 a0004c0004 others(1): Show a0002c0002 a0002c0005 a0004c0004 a0007c0009	a0002c0002t0001 a0002c0005t0001 a0004c0004t0001 others(1): Show a0002c0002t0001 a0002c0005t0001 a0004c0004t0001 a0007c0009t0001	a0002c0002t0001g0107 a0002c0002t0001g0111 a0002c0005t0001g0224 others(3): Show a0002c0002t0001g0107 a0002c0002t0001g0111 a0002c0005t0001g0224 a0004c0004t0001g0160 a0004c0004t0001g0163 a0007c0009t0001g0007	6	312	0.0192	12	c.285 others(29): Show c.2850-534_2850-523dupGTGTGTGTGTGT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	24/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCAR1_chr10_68716239_68797377	68752883	A A	AATAGATA others(5): Show AATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02647.hp1 NA18973.hp2 others(1): Show HG02040.hp2 HG02647.hp1 NA18973.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0003t0004 a0001c0001t0001 a0001c0003t0002 a0001c0003t0004	a0001c0001t0001g0313 a0001c0001t0001g0326 a0001c0003t0002g0075 others(1): Show a0001c0001t0001g0313 a0001c0001t0001g0326 a0001c0003t0002g0075 a0001c0003t0004g0071	4	360	0.0111	12	c.111 others(29): Show c.1119-922_1119-911dupAGATAGATAGAT	CCAR1	ENSG00000060339.14	transcript	ENST00000265872.11	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCAR1_chr10_68716239_68797377	68758503	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	360	0.0028	12	c.192 others(31): Show c.1920+1157_1920+1168dupGTGTGTGTGTGT	CCAR1	ENSG00000060339.14	transcript	ENST00000265872.11	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCAR2_chr8_22599757_22625471	22611388	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02572.hp2 NA18943.hp1 others(3): Show HG02080.hp1 HG02572.hp2 NA18943.hp1 NA18954.hp1 NA19000.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0002 a0001c0004t0005 a0001c0007t0002 a0001c0002t0002 a0001c0004t0005 a0001c0007t0002	a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0004t0005g0075 others(3): Show a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0004t0005g0075 a0001c0007t0002g0047 a0001c0007t0002g0051 a0001c0007t0002g0079	6	376	0.0160	12	c.585 others(29): Show c.585-1623_585-1612dupGTGTGTGTGTGT	CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCAR2_chr8_22599757_22625471	22611404	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp1 HG01891.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0016 a0001c0003 a0001c0016	a0001c0003t0006 a0001c0016t0006 a0001c0003t0006 a0001c0016t0006	a0001c0003t0006g0197 a0001c0016t0006g0200 a0001c0003t0006g0197 a0001c0016t0006g0200	2	376	0.0053	12	c.585 others(29): Show c.585-1612_585-1611insGTGTGTGTGTAT	CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCAR2_chr8_22599757_22625471	22624443	G G	GCGTCTTT others(5): Show GCGTCTTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0096 a0002c0005t0007g0096	1	376	0.0027	12	c.47 others(23): Show c.4761_*4762insCGTCTTTATATT	CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding		3973		chr8	TogoVar
CCBE1_chr18_59425939_59702423	59458175	T T	TCCATCCA others(5): Show TCCATCCATCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG00733.hp2 others(85): Show HG00099.hp2 HG00621.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03540.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18963.hp2 NA19010.hp2 NA19043.hp1 NA19083.hp1 NA19087.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0048 a0001c0001t0050 a0001c0001t0055 a0001c0001t0056 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0003t0001 a0001c0003t0062 a0001c0008t0010 a0002c0002t0011 a0003c0004t0001	a0001c0001t0001g0048 a0001c0001t0001g0222 a0001c0001t0001g0224 others(85): Show a0001c0001t0001g0048 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0002g0135 a0001c0001t0002g0213 a0001c0001t0002g0230 a0001c0001t0003g0014 a0001c0001t0003g0036 a0001c0001t0003g0046 a0001c0001t0003g0086 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0158 a0001c0001t0003g0176 a0001c0001t0003g0218 a0001c0001t0003g0236 a0001c0001t0003g0239 a0001c0001t0004g0095 a0001c0001t0004g0108 a0001c0001t0004g0113 a0001c0001t0004g0119 a0001c0001t0004g0121 a0001c0001t0004g0134 a0001c0001t0006g0033 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0129 a0001c0001t0006g0130 a0001c0001t0006g0136 a0001c0001t0006g0172 a0001c0001t0006g0231 a0001c0001t0008g0027 a0001c0001t0008g0051 a0001c0001t0008g0063 a0001c0001t0008g0066 a0001c0001t0008g0203 a0001c0001t0008g0241 a0001c0001t0009g0127 a0001c0001t0009g0141 a0001c0001t0009g0150 a0001c0001t0009g0164 a0001c0001t0009g0177 a0001c0001t0010g0004 a0001c0001t0010g0010 a0001c0001t0010g0143 a0001c0001t0010g0170 a0001c0001t0011g0087 a0001c0001t0011g0171 a0001c0001t0011g0229 a0001c0001t0012g0190 a0001c0001t0012g0191 a0001c0001t0012g0212 a0001c0001t0013g0041 a0001c0001t0013g0215 a0001c0001t0013g0227 a0001c0001t0015g0085 a0001c0001t0015g0210 a0001c0001t0015g0240 a0001c0001t0016g0045 a0001c0001t0017g0146 a0001c0001t0018g0167 a0001c0001t0020g0028 a0001c0001t0020g0052 a0001c0001t0022g0165 a0001c0001t0022g0166 a0001c0001t0026g0148 a0001c0001t0027g0151 a0001c0001t0032g0053 a0001c0001t0033g0080 a0001c0001t0035g0235 a0001c0001t0036g0155 a0001c0001t0038g0168 a0001c0001t0039g0160 a0001c0001t0041g0005 a0001c0001t0048g0145 a0001c0001t0050g0185 a0001c0001t0055g0188 a0001c0001t0056g0055 a0001c0001t0064g0071 a0001c0001t0065g0200 a0001c0001t0067g0029 a0001c0001t0068g0008 a0001c0001t0069g0083 a0001c0003t0001g0157 a0001c0003t0062g0156 a0001c0008t0010g0009 a0002c0002t0011g0002 a0003c0004t0001g0015	88	242	0.3636	12	c.554 others(29): Show c.554-3225_554-3224insGAAGATGGATGG	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	5/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59460936	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01175.hp1 others(22): Show HG00280.hp2 HG00741.hp1 HG01175.hp1 HG01258.hp1 HG01884.hp1 HG01978.hp2 HG02451.hp1 HG02615.hp1 HG02647.hp2 HG02738.hp2 HG02886.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03710.hp1 HG03710.hp2 HG04199.hp2 NA18906.hp2 NA19011.hp2 NA19087.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0020 a0001c0001t0044 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0069 a0002c0002t0011	a0001c0001t0001g0096 a0001c0001t0001g0209 a0001c0001t0001g0222 others(22): Show a0001c0001t0001g0096 a0001c0001t0001g0209 a0001c0001t0001g0222 a0001c0001t0003g0014 a0001c0001t0003g0036 a0001c0001t0003g0046 a0001c0001t0003g0086 a0001c0001t0003g0147 a0001c0001t0003g0158 a0001c0001t0003g0176 a0001c0001t0003g0218 a0001c0001t0003g0236 a0001c0001t0003g0239 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0137 a0001c0001t0015g0240 a0001c0001t0020g0028 a0001c0001t0044g0117 a0001c0001t0053g0214 a0001c0001t0054g0089 a0001c0001t0055g0188 a0001c0001t0056g0055 a0001c0001t0069g0083 a0002c0002t0011g0002	25	242	0.1033	12	c.553 others(29): Show c.553+5791_553+5802dupATTTATTTATTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	5/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59477538	C C	CTCTGTGT others(5): Show CTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	242	0.0041	12	c.265 others(29): Show c.265+2647_265+2648insCACACACACAGA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59477538	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG02523.hp1 others(8): Show HG00423.hp1 HG00597.hp1 HG02523.hp1 HG02698.hp2 HG03490.hp2 NA18612.hp2 NA18962.hp1 NA18962.hp2 NA19010.hp1 NA19070.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0020	a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0048 others(8): Show a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0077 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0002g0030 a0001c0001t0002g0075 a0001c0001t0002g0103 a0001c0001t0008g0138 a0001c0001t0020g0028	11	242	0.0455	12	c.265 others(29): Show c.265+2636_265+2647dupCACACACACACA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59477565	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03688.hp1 HG04115.hp1 others(1): Show HG00741.hp1 HG03688.hp1 HG04115.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0066	a0001c0001t0001g0096 a0001c0001t0005g0124 a0001c0001t0009g0202 others(1): Show a0001c0001t0001g0096 a0001c0001t0005g0124 a0001c0001t0009g0202 a0001c0001t0066g0022	4	242	0.0165	12	c.265 others(29): Show c.265+2620_265+2621insGCACACACACAC	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59485584	A A	ATATTTAT others(5): Show ATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02129.hp1 HG02145.hp2 others(5): Show HG02055.hp2 HG02129.hp1 HG02145.hp2 HG03195.hp2 HG03225.hp1 NA18522.hp2 NA19083.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0022 a0001c0001t0028 a0001c0003t0001 a0002c0002t0018	a0001c0001t0001g0234 a0001c0001t0003g0147 a0001c0001t0009g0150 others(5): Show a0001c0001t0001g0234 a0001c0001t0003g0147 a0001c0001t0009g0150 a0001c0001t0011g0229 a0001c0001t0022g0166 a0001c0001t0028g0011 a0001c0003t0001g0157 a0002c0002t0018g0001	8	242	0.0331	12	c.213 others(29): Show c.213-5358_213-5347dupAATAAATAAATA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59491827	C C	CAAACAAA others(5): Show CAAACAAACAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp1 others(73): Show HG00099.hp1 HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01109.hp1 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp2 NA18950.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18981.hp1 NA18984.hp2 NA18994.hp2 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19070.hp1 NA19087.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0001t0032 a0001c0001t0042 a0001c0001t0050 a0001c0001t0052 a0001c0001t0054 a0001c0001t0060 a0001c0001t0066 a0001c0001t0068 a0002c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 others(73): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0159 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0242 a0001c0001t0002g0030 a0001c0001t0002g0058 a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0135 a0001c0001t0002g0174 a0001c0001t0002g0219 a0001c0001t0003g0086 a0001c0001t0003g0176 a0001c0001t0004g0119 a0001c0001t0004g0134 a0001c0001t0005g0124 a0001c0001t0005g0181 a0001c0001t0005g0198 a0001c0001t0007g0126 a0001c0001t0007g0184 a0001c0001t0007g0197 a0001c0001t0008g0063 a0001c0001t0008g0138 a0001c0001t0009g0153 a0001c0001t0009g0202 a0001c0001t0013g0041 a0001c0001t0014g0090 a0001c0001t0014g0123 a0001c0001t0015g0085 a0001c0001t0016g0045 a0001c0001t0016g0142 a0001c0001t0020g0028 a0001c0001t0020g0052 a0001c0001t0023g0192 a0001c0001t0023g0193 a0001c0001t0027g0151 a0001c0001t0032g0053 a0001c0001t0042g0238 a0001c0001t0050g0185 a0001c0001t0052g0201 a0001c0001t0054g0089 a0001c0001t0060g0173 a0001c0001t0066g0022 a0001c0001t0068g0008 a0002c0002t0001g0003	76	242	0.3141	12	c.213 others(31): Show c.213-11590_213-11589insATTTGTTTGTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59543834	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp2 HG03453.hp1 HG02615.hp1 HG02976.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0068 a0001c0001t0002 a0001c0001t0004 a0001c0001t0068	a0001c0001t0002g0106 a0001c0001t0004g0038 a0001c0001t0068g0008 a0001c0001t0002g0106 a0001c0001t0004g0038 a0001c0001t0068g0008	3	242	0.0124	12	c.213 others(31): Show c.213-63608_213-63597dupTTTTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59545328	A A	ATATTCCA others(5): Show ATATTCCAAAAGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp1 others(13): Show HG00423.hp1 HG00544.hp2 HG00597.hp1 HG01169.hp1 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02293.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp2 NA18612.hp2 NA18972.hp2 NA18994.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0053	a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0076 others(13): Show a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0109 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0224 a0001c0001t0002g0075 a0001c0001t0005g0181 a0001c0001t0005g0198 a0001c0001t0008g0027 a0001c0001t0008g0241 a0001c0001t0053g0214	16	242	0.0661	12	c.213 others(31): Show c.213-65091_213-65090insACTTTTGGAATA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02723.hp1 others(3): Show HG02055.hp1 HG02622.hp1 HG02723.hp1 HG03041.hp2 NA18522.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017	a0001c0001t0002g0016 a0001c0001t0002g0084 a0001c0001t0003g0149 others(3): Show a0001c0001t0002g0016 a0001c0001t0002g0084 a0001c0001t0003g0149 a0001c0001t0004g0175 a0001c0001t0009g0150 a0001c0001t0017g0146	6	242	0.0248	12	c.213 others(31): Show c.213-93058_213-93047dupATATATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59595114	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04204.hp1 NA18984.hp2 others(1): Show HG03704.hp1 HG04204.hp1 NA18984.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0001t0054 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0054 a0001c0003t0062	a0001c0001t0001g0088 a0001c0001t0008g0092 a0001c0001t0054g0089 others(1): Show a0001c0001t0001g0088 a0001c0001t0008g0092 a0001c0001t0054g0089 a0001c0003t0062g0156	4	242	0.0165	12	c.212 others(33): Show c.212+101503_212+101514dupTTTTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59625430	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02647.hp1 HG06807.hp2 others(2): Show HG00408.hp1 HG02647.hp1 HG06807.hp2 NA18906.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0026	a0001c0001t0001g0047 a0001c0001t0001g0186 a0001c0001t0003g0236 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0186 a0001c0001t0003g0236 a0001c0001t0010g0004 a0001c0001t0026g0148	5	242	0.0207	12	c.212 others(31): Show c.212+71187_212+71198dupTTTTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59642948	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0182 a0001c0001t0029g0182	1	242	0.0041	12	c.212 others(31): Show c.212+53669_212+53680dupTTTTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658354	A A	AAAAAAAA others(5): Show AAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	242	0.0041	12	c.212 others(31): Show c.212+38274_212+38275insATATTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59668418	A A	AAATAATA others(5): Show AAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02559.hp2 others(8): Show HG02055.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0038 a0001c0001t0048	a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0003g0147 others(8): Show a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0006g0129 a0001c0001t0009g0150 a0001c0001t0017g0146 a0001c0001t0024g0012 a0001c0001t0026g0148 a0001c0001t0038g0168 a0001c0001t0048g0145	11	242	0.0455	12	c.212 others(31): Show c.212+28199_212+28210dupATTATTATTATT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59692955	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0051 a0001c0001t0008g0051	1	242	0.0041	12	c.212 others(29): Show c.212+3673_212+3674insGTGTGTGTGTGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59698646	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00738.hp2 HG00741.hp1 others(20): Show HG00423.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01175.hp1 HG01255.hp1 HG01496.hp1 HG01934.hp2 HG01978.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG03453.hp1 HG04115.hp1 HG04184.hp2 NA18950.hp2 NA18972.hp2 NA18998.hp2 NA19010.hp1 NA19087.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0035 a0001c0001t0055 a0001c0001t0056	a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0057 others(20): Show a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0096 a0001c0001t0002g0106 a0001c0001t0002g0116 a0001c0001t0002g0230 a0001c0001t0003g0086 a0001c0001t0003g0149 a0001c0001t0004g0095 a0001c0001t0005g0124 a0001c0001t0007g0221 a0001c0001t0008g0063 a0001c0001t0011g0087 a0001c0001t0012g0190 a0001c0001t0013g0227 a0001c0001t0014g0123 a0001c0001t0020g0028 a0001c0001t0035g0235 a0001c0001t0055g0188 a0001c0001t0056g0055	23	242	0.0950	12	c.-13 others(23): Show c.-1305_-1304insAAAAAAAAAAAA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding		1224		chr18	TogoVar
CCBE1_chr18_59425939_59702423	59701078	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02922.hp2 NA18906.hp1 HG00738.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0059 a0001c0001t0002 a0001c0001t0003 a0001c0001t0059	a0001c0001t0002g0037 a0001c0001t0003g0036 a0001c0001t0059g0035 a0001c0001t0002g0037 a0001c0001t0003g0036 a0001c0001t0059g0035	3	242	0.0124	12	c.-37 others(23): Show c.-3737_-3736insCACACACACACA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding		3656		chr18	TogoVar
CCDC102A_chr16_57507181_57541571	57525075	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	416	0.0024	12	c.812 others(27): Show c.812+814_812+825dupTAAATAAATAAA	CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	3/8			chr16	TogoVar
CCDC102B_chr18_68793080_69060189	68793590	T T	TATCCATC others(5): Show TATCCATCCATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0152 a0002c0009t0001g0152	1	216	0.0046	12	c.-46 others(23): Show c.-4607_-4606insATCCATCCATCC	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding		4489		chr18	TogoVar
CCDC102B_chr18_68793080_69060189	68813774	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02896.hp2 others(3): Show HG01109.hp2 HG02055.hp1 HG02896.hp2 HG03041.hp2 HG03453.hp1 NA18522.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0018	a0001c0001 a0004c0006 a0004c0020 others(2): Show a0001c0001 a0004c0006 a0004c0020 a0006c0010 a0018c0038	a0001c0001t0001 a0004c0006t0004 a0004c0020t0001 others(2): Show a0001c0001t0001 a0004c0006t0004 a0004c0020t0001 a0006c0010t0002 a0018c0038t0001	a0001c0001t0001g0148 a0001c0001t0001g0151 a0004c0006t0004g0089 others(3): Show a0001c0001t0001g0148 a0001c0001t0001g0151 a0004c0006t0004g0089 a0004c0020t0001g0158 a0006c0010t0002g0090 a0018c0038t0001g0168	6	216	0.0278	12	c.-16 others(31): Show c.-16+15601_-16+15612dupATATATATATAT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC102B_chr18_68793080_69060189	68815677	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02486.hp1 others(8): Show HG01243.hp2 HG02109.hp2 HG02486.hp1 HG02486.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp1 HG03453.hp2 NA19002.hp2 NA19030.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0015 a0021	a0001c0001 a0003c0004 a0005c0008 others(2): Show a0001c0001 a0003c0004 a0005c0008 a0015c0016 a0021c0035	a0001c0001t0001 a0001c0001t0004 a0003c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0003c0004t0001 a0005c0008t0001 a0015c0016t0001 a0021c0035t0001	a0001c0001t0001g0156 a0001c0001t0001g0169 a0001c0001t0001g0170 others(7): Show a0001c0001t0001g0156 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0004g0150 a0001c0001t0004g0171 a0003c0004t0001g0160 a0005c0008t0001g0001 a0015c0016t0001g0020 a0021c0035t0001g0147	11	216	0.0509	12	c.-16 others(31): Show c.-16+17515_-16+17526dupACACACACACAC	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC102B_chr18_68793080_69060189	68834432	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp1 HG01358.hp1 others(9): Show HG00099.hp1 HG01071.hp1 HG01358.hp1 HG02055.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG03041.hp1 HG03516.hp1	a0001 a0009 a0015 others(3): Show a0001 a0009 a0015 a0019 a0026 a0027	a0001c0003 a0009c0017 a0015c0016 others(3): Show a0001c0003 a0009c0017 a0015c0016 a0019c0029 a0026c0026 a0027c0028	a0001c0003t0001 a0009c0017t0002 a0015c0016t0001 others(3): Show a0001c0003t0001 a0009c0017t0002 a0015c0016t0001 a0019c0029t0001 a0026c0026t0001 a0027c0028t0002	a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0128 others(9): Show a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0128 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0153 a0009c0017t0002g0143 a0015c0016t0001g0020 a0015c0016t0001g0027 a0019c0029t0001g0114 a0026c0026t0001g0011 a0027c0028t0002g0022	12	216	0.0556	12	c.-15 others(29): Show c.-15-2306_-15-2295dupATATATATATAT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC102B_chr18_68793080_69060189	68853672	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0090 a0006c0010t0002g0090	1	216	0.0046	12	c.936 others(29): Show c.936+7270_936+7281dupAAAAAAAAAAAA	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC102B_chr18_68793080_69060189	68905784	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18964.hp1 NA18971.hp2 others(1): Show HG00621.hp1 NA18964.hp1 NA18971.hp2 NA19083.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0034 a0007c0012t0001g0070 a0007c0012t0001g0197 others(1): Show a0007c0012t0001g0034 a0007c0012t0001g0070 a0007c0012t0001g0197 a0007c0012t0001g0210	4	216	0.0185	12	c.126 others(31): Show c.1263+8372_1263+8383dupTTTTTTTTTTTT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC102B_chr18_68793080_69060189	68911751	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp2 NA19030.hp2 HG02486.hp2 HG03139.hp2 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0004c0006t0001 a0001c0001t0001 a0001c0001t0004 a0004c0006t0001	a0001c0001t0001g0172 a0001c0001t0004g0171 a0004c0006t0001g0081 a0001c0001t0001g0172 a0001c0001t0004g0171 a0004c0006t0001g0081	3	216	0.0139	12	c.126 others(33): Show c.1263+14336_1263+14347dupAAAAAAAAAAAA	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar

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