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
CFDP1_chr16_75288710_75438503	75349678	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	314	0.0032	14	c.651 others(33): Show c.651-44497_651-44496insATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	314	0.0032	14	c.651 others(33): Show c.651-44501_651-44500insATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(7): Show TATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	314	0.0032	14	c.651 others(33): Show c.651-44517_651-44516insGTGTGTATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02109.hp1 others(4): Show HG01884.hp2 HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0167 others(4): Show a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0178	7	314	0.0223	14	c.651 others(33): Show c.651-44517_651-44516insGTGTATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75363942	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG01109.hp2 others(24): Show HG00280.hp1 HG00423.hp2 HG01109.hp2 HG01123.hp1 HG01884.hp2 HG01934.hp1 HG02055.hp2 HG02083.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02683.hp1 HG02738.hp1 HG02922.hp1 HG03516.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18943.hp1 NA18956.hp2 NA18998.hp1 NA19030.hp1 NA19058.hp2 NA19062.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 a0005c0005t0002	a0001c0001t0001g0286 a0001c0001t0002g0147 a0001c0001t0002g0153 others(24): Show a0001c0001t0001g0286 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0002c0003t0002g0158 a0005c0005t0002g0161	27	314	0.0860	14	c.650 others(33): Show c.650+31134_650+31147dupGTGTGTGTGTGTGT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75384852	C C	CAATATAT others(7): Show CAATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	314	0.0032	14	c.650 others(33): Show c.650+10237_650+10238insTATATATATATATT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75436131	G G	GAGTGAAT others(7): Show GAGTGAATTTATTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	314	0.0032	14	c.-27 others(25): Show c.-2780_-2779insAGAATAAATTCACT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding		2629		chr16	TogoVar
CFD_chr19_854664_868641	862357	A A	AGAGGGTT others(7): Show AGAGGGTTGGGGCAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03239.hp1 HG03688.hp2 others(1): Show HG02602.hp1 HG03239.hp1 HG03688.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0060 a0001c0001t0002g0019 a0001c0001t0002g0060	4	287	0.0139	14	c.615 others(29): Show c.615+407_615+420dupTTGGGGCATGAGGG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFD_chr19_854664_868641	864042	C C	CCACACAC others(7): Show CCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18959.hp2 NA18971.hp2 others(1): Show NA18948.hp2 NA18959.hp2 NA18971.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0002 a0001c0001t0004g0005 a0001c0001t0002g0002 a0001c0001t0004g0005	4	287	0.0139	14	c.80 others(23): Show c.804_*805insCACACACACACACA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		402		chr19	TogoVar
CFD_chr19_854664_868641	864060	A A	ACACACAC others(7): Show ACACACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02132.hp1 HG02257.hp1 others(3): Show HG01123.hp1 HG02132.hp1 HG02257.hp1 NA18522.hp1 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0002g0003	6	287	0.0209	14	c.82 others(23): Show c.822_*823insCACACACACACACG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFD_chr19_854664_868641	864060	A A	ACACACAC others(7): Show ACACACACACACGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02055.hp2 others(4): Show HG01070.hp2 HG01071.hp1 HG02055.hp2 HG02109.hp2 HG02559.hp2 HG02723.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0034 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0073 a0001c0001t0015g0036	7	287	0.0244	14	c.82 others(23): Show c.822_*823insCACACACACACGCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFHR1_chr1_196814731_196837189	196824748	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02015.hp1 HG02056.hp2 others(12): Show HG01884.hp1 HG02015.hp1 HG02056.hp2 HG03471.hp1 HG03471.hp2 NA18944.hp1 NA18964.hp1 NA18967.hp1 NA18980.hp1 NA18987.hp1 NA18988.hp1 NA19002.hp1 NA19011.hp2 NA19079.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0031 a0001c0003t0002g0004 a0001c0003t0002g0040 others(1): Show a0001c0002t0002g0031 a0001c0003t0002g0004 a0001c0003t0002g0040 a0001c0003t0002g0044	15	275	0.0546	14	c.59- others(27): Show c.59-709_59-696dupATATATATATATAT	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR3_chr1_196769840_196800407	196772694	G G	GTATATAT others(7): Show GTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 NA21309.hp1 HG01928.hp2 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0009 a0002c0001t0002 a0002c0001t0009	a0002c0001t0002g0054 a0002c0001t0009g0003 a0002c0001t0002g0054 a0002c0001t0009g0003	2	261	0.0077	14	c.-21 others(25): Show c.-2193_-2192insTATATATATATATA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2145		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196885599	T T	TATATATA others(7): Show TATATATAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	350	0.0029	14	c.-25 others(25): Show c.-2552_-2551insATATATAGAGAGAG	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2452		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196885599	T T	TATATATA others(7): Show TATATATATATAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA18944.hp1 NA18966.hp2 others(2): Show HG02056.hp2 NA18944.hp1 NA18966.hp2 NA19002.hp1 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0056 a0002c0002t0001g0002 a0002c0002t0001g0056	5	350	0.0143	14	c.-25 others(25): Show c.-2552_-2551insATATATATATAGAG	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2452		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196885599	T T	TATATATA others(7): Show TATATATATATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18967.hp1 NA18998.hp1 NA18952.hp1 NA18967.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	3	350	0.0086	14	c.-25 others(25): Show c.-2552_-2551insATATATATATATAG	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2452		chr1	TogoVar
CFHR5_chr1_196972556_197014678	197013558	C C	CATGATAA others(7): Show CATGATAAAATGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	356	0.0028	14	c.48 others(25): Show c.4875_*4876insATGATAAAATGGAA	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding		3881		chr1	TogoVar
CFH_chr1_196647043_196752504	196658407	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	308	0.0033	14	c.58+ others(29): Show c.58+6241_58+6254dupTTTTTTTTTTTTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196671587	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0210 a0009c0013t0001g0210	1	308	0.0033	14	c.59- others(29): Show c.59-1365_59-1352dupCACACACACACACA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196693955	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02735.hp2 HG02630.hp2 HG02735.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0070 a0004c0004t0001g0139 a0004c0004t0001g0070 a0004c0004t0001g0139	2	308	0.0065	14	c.133 others(33): Show c.1336+3739_1336+3752dupGTGTGTGTGTGTGT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714635	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02004.hp1 HG01891.hp2 HG02004.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0009 a0003c0003 a0008c0009	a0003c0003t0001 a0008c0009t0001 a0003c0003t0001 a0008c0009t0001	a0003c0003t0001g0091 a0008c0009t0001g0127 a0003c0003t0001g0091 a0008c0009t0001g0127	2	308	0.0065	14	c.151 others(31): Show c.1519+739_1519+752dupTATATATATATATA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714666	T T	TAGAGAGA others(7): Show TAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0074 a0003c0003t0001g0184 a0003c0003t0001g0074 a0003c0003t0001g0184	2	308	0.0065	14	c.151 others(31): Show c.1519+750_1519+751insGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATAGA others(7): Show TATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19007.hp2 HG03834.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0281 a0001c0001t0001g0283	2	308	0.0065	14	c.151 others(31): Show c.1519+752_1519+753insTATAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(7): Show TATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03490.hp1 HG03492.hp2 others(1): Show HG00642.hp2 HG03490.hp1 HG03492.hp2 NA18980.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0026 a0001c0001 a0020c0026	a0001c0001t0001 a0020c0026t0001 a0001c0001t0001 a0020c0026t0001	a0001c0001t0001g0211 a0001c0001t0001g0278 a0001c0001t0001g0282 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0278 a0001c0001t0001g0282 a0020c0026t0001g0119	4	308	0.0130	14	c.151 others(31): Show c.1519+752_1519+753insTATATAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(7): Show TATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0164 a0011c0012t0001g0164	1	308	0.0033	14	c.151 others(31): Show c.1519+752_1519+753insTATATATAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(7): Show TATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	308	0.0033	14	c.151 others(31): Show c.1519+752_1519+753insTATATATATAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714701	A A	AGAGAGAG others(7): Show AGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03239.hp2 HG02572.hp2 HG03239.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0038 a0004c0004t0001g0135 a0004c0004t0001g0038 a0004c0004t0001g0135	2	308	0.0065	14	c.151 others(31): Show c.1519+797_1519+798insGGAGAGAGAGAGAG	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109753324	T T	TATATTTA others(7): Show TATATTTATTATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19066.hp2 NA18978.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0086 a0001c0002t0001g0057 a0001c0002t0001g0086	2	354	0.0057	14	c.905 others(29): Show c.905-822_905-821insTATATAATAAATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753383	T T	TATATTTA others(7): Show TATATTTATTATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00733.hp1 others(69): Show HG00323.hp1 HG00558.hp1 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp2 HG02717.hp2 HG02738.hp2 HG02886.hp1 HG03516.hp1 HG03710.hp1 HG03927.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18980.hp2 NA18984.hp2 NA18991.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19012.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp2 NA19072.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0007 a0011	a0001c0002 a0004c0005 a0005c0007 others(3): Show a0001c0002 a0004c0005 a0005c0007 a0006c0014 a0007c0010 a0011c0009	a0001c0002t0001 a0001c0002t0004 a0004c0005t0001 others(4): Show a0001c0002t0001 a0001c0002t0004 a0004c0005t0001 a0005c0007t0001 a0006c0014t0001 a0007c0010t0001 a0011c0009t0001	a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0022 others(68): Show a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0173 a0001c0002t0001g0271 a0001c0002t0001g0273 a0001c0002t0001g0295 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0109 a0005c0007t0001g0069 a0005c0007t0001g0070 a0006c0014t0001g0064 a0007c0010t0001g0062 a0011c0009t0001g0106	72	354	0.2034	14	c.905 others(29): Show c.905-881_905-880insTATATAATAAATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(7): Show TAATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01978.hp2 HG03041.hp2 others(1): Show HG00609.hp1 HG01978.hp2 HG03041.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0055 others(1): Show a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0055 a0001c0002t0001g0116	4	354	0.0113	14	c.58- others(31): Show c.58-16988_58-16987insTATATATATATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18999.hp2 NA19000.hp1 others(1): Show NA18941.hp2 NA18999.hp2 NA19000.hp1 NA19070.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 others(1): Show a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0109	4	354	0.0113	14	c.58- others(31): Show c.58-17002_58-16989dupATATATATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFTR_chr7_117475025_117673665	117499429	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01891.hp1 others(15): Show HG01257.hp1 HG01258.hp1 HG01891.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02647.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG03139.hp2 HG03225.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0003t0003 a0001c0004t0002 others(1): Show a0001c0001t0002 a0001c0003t0003 a0001c0004t0002 a0001c0006t0003	a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(14): Show a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0179 a0001c0003t0003g0001 a0001c0004t0002g0016 a0001c0004t0002g0124 a0001c0004t0002g0125 a0001c0004t0002g0129 a0001c0004t0002g0130 a0001c0004t0002g0131 a0001c0006t0003g0198	18	202	0.0891	14	c.54- others(29): Show c.54-4804_54-4791dupGTGTGTGTGTGTGT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117548333	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp2 HG01516.hp2 others(6): Show HG01071.hp2 HG01074.hp2 HG01516.hp2 HG02683.hp2 HG02886.hp2 HG03017.hp2 NA18906.hp1 NA19030.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0005t0003 a0001c0006t0003	a0001c0001t0002g0151 a0001c0001t0004g0009 a0001c0004t0001g0006 others(6): Show a0001c0001t0002g0151 a0001c0001t0004g0009 a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0005t0003g0149 a0001c0005t0003g0150 a0001c0006t0003g0015	9	202	0.0446	14	c.121 others(31): Show c.1210-289_1210-276dupGTGTGTGTGTGTGT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612011	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03139.hp1 HG03225.hp2 others(1): Show HG00140.hp1 HG03139.hp1 HG03225.hp2 HG06807.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0004 a0011c0016 a0001c0001 a0001c0004 a0011c0016	a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 a0011c0016t0002	a0001c0001t0002g0063 a0001c0001t0004g0135 a0001c0004t0002g0016 others(1): Show a0001c0001t0002g0063 a0001c0001t0004g0135 a0001c0004t0002g0016 a0011c0016t0002g0201	4	202	0.0198	14	c.336 others(31): Show c.3367+214_3367+215insATGTATATATATAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612023	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp2 HG03654.hp1 others(1): Show HG01071.hp2 HG01074.hp2 HG03654.hp1 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0001	a0001c0001t0002g0044 a0001c0004t0001g0006 a0001c0004t0001g0007 others(1): Show a0001c0001t0002g0044 a0001c0004t0001g0006 a0001c0004t0001g0007 a0002c0002t0001g0089	4	202	0.0198	14	c.336 others(31): Show c.3367+232_3367+245dupTATATATATATATA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612234	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0150 a0001c0005t0003g0150	1	202	0.0050	14	c.336 others(31): Show c.3367+440_3367+453dupCACACACACACACA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGAS_chr6_73418711_73457297	73449476	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01891.hp1 others(15): Show HG00738.hp1 HG00738.hp2 HG01891.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp1 NA18747.hp2 NA18956.hp2 NA18974.hp2 NA18983.hp2 NA18989.hp2 NA19007.hp2 NA19010.hp2 NA19063.hp2 NA19067.hp1 NA19072.hp1 NA19072.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0001c0006 others(3): Show a0001c0002 a0001c0003 a0001c0006 a0002c0001 a0002c0005 a0005c0011	a0001c0002t0002 a0001c0002t0025 a0001c0002t0026 others(8): Show a0001c0002t0002 a0001c0002t0025 a0001c0002t0026 a0001c0003t0001 a0001c0003t0020 a0001c0006t0003 a0002c0001t0001 a0002c0001t0017 a0002c0001t0064 a0002c0005t0012 a0005c0011t0062	a0001c0002t0002g0002 a0001c0002t0002g0210 a0001c0002t0025g0207 others(12): Show a0001c0002t0002g0002 a0001c0002t0002g0210 a0001c0002t0025g0207 a0001c0002t0026g0214 a0001c0003t0001g0211 a0001c0003t0001g0317 a0001c0003t0020g0208 a0001c0003t0020g0212 a0001c0006t0003g0209 a0002c0001t0001g0126 a0002c0001t0017g0110 a0002c0001t0017g0199 a0002c0001t0064g0236 a0002c0005t0012g0237 a0005c0011t0062g0102	18	410	0.0439	14	c.657 others(31): Show c.657+2035_657+2048dupGTGTGTGTGTGTGT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0009 a0008c0017t0009	a0008c0017t0009g0201 a0008c0017t0009g0201	1	410	0.0024	14	c.-13 others(25): Show c.-1388_-1387insAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGAS_chr6_73418711_73457297	73456388	A A	AATAATAG others(7): Show AATAATAGCTACGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0138 a0002c0001t0001g0138	1	410	0.0024	14	c.-42 others(25): Show c.-4208_-4207insATCGTAGCTATTAT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		4092		chr6	TogoVar
CGGBP1_chr3_88046950_88064005	88050344	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	358	0.0028	14	c.51 others(25): Show c.5128_*5129insAAAAAAAAAAAAAA	CGGBP1	ENSG00000163320.12	transcript	ENST00000482016.6	protein_coding		1605		chr3	TogoVar
CGNL1_chr15_57371505_57555717	57383292	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02145.hp1 HG02486.hp2 others(9): Show HG02080.hp1 HG02145.hp1 HG02486.hp2 HG02572.hp2 HG02976.hp1 HG03209.hp1 NA19030.hp2 NA19068.hp1 NA19084.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0011 a0014	a0001c0001 a0002c0002 a0006c0007 others(2): Show a0001c0001 a0002c0002 a0006c0007 a0011c0012 a0014c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0002c0002t0003 a0002c0002t0012 a0002c0002t0013 a0002c0002t0042 a0006c0007t0005 a0011c0012t0043 a0014c0016t0004	a0001c0001t0001g0268 a0001c0001t0002g0267 a0001c0001t0004g0274 others(9): Show a0001c0001t0001g0268 a0001c0001t0002g0267 a0001c0001t0004g0274 a0001c0001t0010g0275 a0002c0002t0003g0266 a0002c0002t0012g0263 a0002c0002t0013g0269 a0002c0002t0013g0271 a0002c0002t0042g0005 a0006c0007t0005g0291 a0011c0012t0043g0010 a0014c0016t0004g0009	12	294	0.0408	14	c.-16 others(31): Show c.-16+6738_-16+6739insTTTTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57409037	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00735.hp1 others(29): Show HG00280.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01099.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02273.hp2 HG02300.hp1 HG02738.hp1 HG02886.hp2 HG03139.hp2 HG03516.hp1 NA18971.hp2 NA18977.hp1 NA18984.hp2 NA18989.hp2 NA18992.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19091.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0014 a0020	a0001c0001 a0001c0005 a0001c0015 others(6): Show a0001c0001 a0001c0005 a0001c0015 a0002c0002 a0002c0008 a0003c0003 a0009c0014 a0014c0016 a0020c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0005t0001 a0001c0005t0002 a0001c0015t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0018 a0002c0008t0003 a0002c0008t0041 a0003c0003t0001 a0003c0003t0016 a0009c0014t0006 a0014c0016t0001 a0014c0016t0004 a0020c0020t0003	a0001c0001t0001g0129 a0001c0001t0001g0165 a0001c0001t0001g0234 others(29): Show a0001c0001t0001g0129 a0001c0001t0001g0165 a0001c0001t0001g0234 a0001c0001t0002g0113 a0001c0001t0002g0252 a0001c0001t0004g0003 a0001c0001t0004g0146 a0001c0001t0004g0251 a0001c0001t0010g0054 a0001c0005t0001g0245 a0001c0005t0001g0257 a0001c0005t0002g0016 a0001c0005t0002g0167 a0001c0005t0002g0200 a0001c0005t0002g0201 a0001c0005t0002g0215 a0001c0015t0001g0018 a0001c0015t0001g0022 a0002c0002t0002g0093 a0002c0002t0003g0119 a0002c0002t0018g0092 a0002c0008t0003g0019 a0002c0008t0003g0020 a0002c0008t0003g0202 a0002c0008t0041g0017 a0003c0003t0001g0227 a0003c0003t0016g0147 a0003c0003t0016g0198 a0009c0014t0006g0050 a0014c0016t0001g0008 a0014c0016t0004g0009 a0020c0020t0003g0253	32	294	0.1088	14	c.-15 others(33): Show c.-15-28925_-15-28912dupCACACACACACACA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0018 a0018	a0018c0034 a0018c0034	a0018c0034t0004 a0018c0034t0004	a0018c0034t0004g0035 a0018c0034t0004g0035	1	294	0.0034	14	c.169 others(31): Show c.1698-183_1698-170dupAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GGAAAAAA others(7): Show GGAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0257 a0001c0005t0001g0257	1	294	0.0034	14	c.169 others(31): Show c.1698-191_1698-190insGAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18			chr15	TogoVar
CGREF1_chr2_27095594_27124128	27106411	C C	CCTGATAT others(7): Show CCTGATATGAAGAGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	352	0.0028	14	c.-11 others(31): Show c.-11-2048_-11-2035dupTCTCTTCATATCAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03654.hp2 NA18994.hp2 HG00558.hp2 HG03654.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229	3	352	0.0085	14	c.-12 others(31): Show c.-12+1961_-12+1974dupGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	352	0.0028	14	c.-12 others(31): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGRRF1_chr14_54504906_54544292	54513627	T T	TTATGTTA others(7): Show TTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19005.hp2 HG01243.hp1 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0188 a0002c0002t0002g0189	2	338	0.0059	14	c.104 others(31): Show c.104+3577_104+3578insGTATGTTATGTTAT	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
CGRRF1_chr14_54504906_54544292	54535359	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG03041.hp2 others(9): Show HG01243.hp1 HG02559.hp1 HG03041.hp2 HG03516.hp2 HG03669.hp1 NA18940.hp2 NA18943.hp1 NA18961.hp2 NA18971.hp1 NA18981.hp1 NA19066.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0047 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0002c0002t0002g0189 a0002c0002t0002g0193 a0002c0002t0002g0195 a0002c0002t0002g0206	12	338	0.0355	14	c.571 others(31): Show c.571-2341_571-2328dupACACACACACACAC	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
CHAD_chr17_50459496_50473880	50461927	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	386	0.0026	14	c.31 others(25): Show c.3113_*3126dupACACACACACACAC	CHAD	ENSG00000136457.10	transcript	ENST00000508540.6	protein_coding		2568		chr17	TogoVar

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