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
CFAP95_chr9_69815817_69911227	69841164	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0095 a0001c0001t0001g0096	2	380	0.0053	18	c.153 others(35): Show c.153-3352_153-3351insTTATATATATATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69841189	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0285 a0001c0002t0001g0285	1	380	0.0026	18	c.153 others(35): Show c.153-3320_153-3319insATATATATACATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843514	T T	TCCCCCCC others(11): Show TCCCCCCCCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	380	0.0026	18	c.153 others(35): Show c.153-1001_153-1000insCCCCCCCTCCTCCTCCCC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69895369	C C	CTCTCTCT others(11): Show CTCTCTCTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	380	0.0026	18	c.507 others(35): Show c.507+8475_507+8476insCTCTCTCTGTGTGTGTGT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69895369	C C	CTCTCTCT others(11): Show CTCTCTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	380	0.0026	18	c.507 others(35): Show c.507+8475_507+8476insCTCTCTGTGTGTGTGTGT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69895369	C C	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	380	0.0026	18	c.507 others(35): Show c.507+8475_507+8476insCTGTGTGTGTGTGTGTGT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97D1_chr17_43775435_43792620	43786955	C C	CATTATTA others(11): Show CATTATTATTATTATTATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp2 HG02559.hp2 HG02647.hp2 others(8): Show HG01346.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG04199.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0012 a0001c0002t0016 others(1): Show a0001c0001t0017 a0001c0002t0012 a0001c0002t0016 a0001c0002t0045	a0001c0001t0017g0002 a0001c0002t0012g0005 a0001c0002t0016g0005 others(1): Show a0001c0001t0017g0002 a0001c0002t0012g0005 a0001c0002t0016g0005 a0001c0002t0045g0007	11	402	0.0274	18	c.25 others(29): Show c.2583_*2600dupATTATTATTATTATTATT	CFAP97D1	ENSG00000231256.8	transcript	ENST00000449302.8	protein_coding	6/6	3090	INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP97_chr4_185154665_185209000	185198789	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0043 a0001c0003t0004g0043	1	350	0.0029	18	c.-17 others(35): Show c.-17+5108_-17+5109insTTTTTTTTTTTTTTTTTT	CFAP97	ENSG00000164323.15	transcript	ENST00000458385.7	protein_coding	1/4			chr4	TogoVar
CFAP99_chr4_2413955_2468002	2415451	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02896.hp2 HG02922.hp2 others(5): Show HG02135.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 NA18906.hp2 NA18964.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0006 others(1): Show a0001c0002 a0001c0003 a0001c0006 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0006t0002 a0002c0001t0001	a0001c0002t0001g0310 a0001c0003t0001g0026 a0001c0003t0002g0039 others(5): Show a0001c0002t0001g0310 a0001c0003t0001g0026 a0001c0003t0002g0039 a0001c0006t0002g0040 a0001c0006t0002g0173 a0002c0001t0001g0006 a0002c0001t0001g0225 a0002c0001t0001g0239	8	350	0.0229	18	c.-36 others(29): Show c.-3660_-3659insACACACACACACACACAC	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3503		chr4	TogoVar
CFAP99_chr4_2413955_2468002	2440149	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp1 HG02145.hp2 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0001 a0001c0012t0001 a0001c0004t0001 a0001c0012t0001	a0001c0004t0001g0086 a0001c0012t0001g0084 a0001c0004t0001g0086 a0001c0012t0001g0084	2	350	0.0057	18	c.351 others(35): Show c.351+2000_351+2001insTTTTTTTTTTTTTTTTTT	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFC1B_chr2_130516222_130533603	130532673	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	12	0.0833	18	c.47 others(29): Show c.4778_*4779insAAAAAAAAAAAAAAAAAT	CFC1B	ENSG00000152093.8	transcript	ENST00000281882.8	protein_coding		4071		chr2	TogoVar
CFDP1_chr16_75288710_75438503	75297145	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp1 HG02135.hp1 others(4): Show HG00323.hp1 HG01243.hp1 HG02135.hp1 NA18946.hp1 NA18960.hp2 NA18962.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0235 a0001c0001t0001g0241 others(4): Show a0001c0001t0001g0199 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0310	7	314	0.0223	18	c.810 others(35): Show c.810-3104_810-3103insACACACACACACACACAC	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75297146	T T	TTTTGTGT others(11): Show TTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	314	0.0032	18	c.810 others(35): Show c.810-3105_810-3104insCACACACACACACACAAA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349680	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02293.hp2 NA19003.hp1 HG01106.hp2 HG02293.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0238 a0001c0001t0001g0269 a0001c0001t0001g0229 a0001c0001t0001g0238 a0001c0001t0001g0269	3	314	0.0096	18	c.651 others(37): Show c.651-44499_651-44498insATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA20905.hp1 NA19081.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0206 a0001c0001t0001g0013 a0001c0001t0001g0206	2	314	0.0064	18	c.651 others(37): Show c.651-44501_651-44500insATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01496.hp2 HG02630.hp1 others(4): Show HG01255.hp2 HG01496.hp2 HG02630.hp1 NA18963.hp1 NA19012.hp2 NA19063.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0203 a0001c0001t0001g0214 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0255 a0001c0001t0001g0289	7	314	0.0223	18	c.651 others(37): Show c.651-44503_651-44502insATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG04228.hp2 NA18943.hp2 HG01496.hp1 HG04228.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0264 a0001c0001t0001g0299 a0001c0001t0001g0213 a0001c0001t0001g0264 a0001c0001t0001g0299	3	314	0.0096	18	c.651 others(37): Show c.651-44505_651-44504insATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349688	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	314	0.0032	18	c.651 others(37): Show c.651-44507_651-44506insATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(11): Show TATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	314	0.0032	18	c.651 others(37): Show c.651-44517_651-44516insGTGTGTATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19058.hp2 NA19062.hp1 HG02602.hp1 NA19058.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0002g0176	3	314	0.0096	18	c.651 others(37): Show c.651-44517_651-44516insGTGTATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75393737	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	314	0.0032	18	c.650 others(35): Show c.650+1335_650+1352dupTTTTTTTTTTTTTTTTTT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFD_chr19_854664_868641	864042	C C	CCACACAC others(11): Show CCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01943.hp1 HG01978.hp1 others(14): Show HG00438.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG03453.hp1 HG03453.hp2 HG03492.hp1 NA18940.hp2 NA18945.hp2 NA18983.hp1 NA18983.hp2 NA18999.hp2 NA19007.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0005t0010	a0001c0001t0001g0015 a0001c0001t0002g0002 a0001c0001t0002g0003 others(5): Show a0001c0001t0001g0015 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0010g0022 a0001c0005t0010g0066	17	287	0.0592	18	c.80 others(27): Show c.804_*805insCACACACACACACACACA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		402		chr19	TogoVar
CFD_chr19_854664_868641	867041	C C	CACCCCCG others(11): Show CACCCCCGTGGCGGCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0024	1	287	0.0035	18	c.38 others(29): Show c.3803_*3804insACCCCCGTGGCGGCTGGG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3401		chr19	TogoVar
CFD_chr19_854664_868641	867041	C C	CACCCCCG others(11): Show CACCCCCGTGGCGGCTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	287	0.0035	18	c.38 others(29): Show c.3803_*3804insACCCCCGTGGCGGCTTGG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3401		chr19	TogoVar
CFHR1_chr1_196814731_196837189	196824748	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02074.hp1 HG03130.hp1 others(2): Show HG01255.hp2 HG02074.hp1 HG03130.hp1 NA18983.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0002 a0001c0003t0002 a0002c0004t0001 a0001c0002t0002 a0001c0003t0002 a0002c0004t0001	a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0099 others(2): Show a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0099 a0001c0003t0002g0043 a0002c0004t0001g0103	5	275	0.0182	18	c.59- others(31): Show c.59-713_59-696dupATATATATATATATATAT	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(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01993.hp2 HG02071.hp2 others(19): Show HG00140.hp2 HG01993.hp2 HG02071.hp2 HG02148.hp1 NA18747.hp2 NA18940.hp2 NA18944.hp1 NA18954.hp2 NA18957.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18991.hp2 NA19002.hp2 NA19009.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19072.hp1 NA19079.hp2 NA19086.hp1 NA20905.hp1	a0002 a0006 a0002 a0006	a0002c0001 a0006c0008 a0002c0001 a0006c0008	a0002c0001t0002 a0002c0001t0015 a0002c0001t0016 others(1): Show a0002c0001t0002 a0002c0001t0015 a0002c0001t0016 a0006c0008t0002	a0002c0001t0002g0003 a0002c0001t0002g0005 a0002c0001t0002g0008 others(12): Show a0002c0001t0002g0003 a0002c0001t0002g0005 a0002c0001t0002g0008 a0002c0001t0002g0009 a0002c0001t0002g0015 a0002c0001t0002g0023 a0002c0001t0002g0045 a0002c0001t0002g0046 a0002c0001t0002g0049 a0002c0001t0002g0053 a0002c0001t0002g0064 a0002c0001t0002g0080 a0002c0001t0015g0014 a0002c0001t0016g0085 a0006c0008t0002g0074	22	261	0.0843	18	c.-21 others(29): Show c.-2193_-2192insTATATATATATATATATA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2145		chr1	TogoVar
CFHR3_chr1_196769840_196800407	196773670	T T	TTATATAT others(11): Show TTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0003	1	261	0.0038	18	c.-12 others(29): Show c.-1217_-1216insTATATATATATATATATA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		1169		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196894889	A A	AAACAACA others(11): Show AAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0170 a0007c0008t0001g0170	1	350	0.0029	18	c.58+ others(33): Show c.58+6684_58+6701dupCAACAACAACAACAACAA	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196658407	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02004.hp2 HG02071.hp2 others(8): Show HG01952.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp1 HG02257.hp1 HG02886.hp1 HG03490.hp2 NA18955.hp2 NA19043.hp2 NA19059.hp2 NA19065.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0019 a0005c0005 others(1): Show a0001c0001 a0001c0019 a0005c0005 a0009c0020	a0001c0001t0001 a0001c0019t0001 a0005c0005t0003 others(1): Show a0001c0001t0001 a0001c0019t0001 a0005c0005t0003 a0009c0020t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0242 others(8): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0019t0001g0267 a0005c0005t0003g0246 a0009c0020t0001g0244	11	308	0.0357	18	c.58+ others(33): Show c.58+6237_58+6254dupTTTTTTTTTTTTTTTTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196692762	C C	CTCTTTCC others(11): Show CTCTTTCCCTTCCTTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG02622.hp1 others(12): Show HG01109.hp1 HG02280.hp1 HG02622.hp1 HG02647.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG03704.hp2 NA18906.hp1 NA18906.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0011 others(1): Show a0001 a0004 a0011 a0021	a0001c0001 a0004c0004 a0011c0012 others(1): Show a0001c0001 a0004c0004 a0011c0012 a0021c0025	a0001c0001t0001 a0004c0004t0001 a0011c0012t0001 others(1): Show a0001c0001t0001 a0004c0004t0001 a0011c0012t0001 a0021c0025t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0134 a0001c0001t0001g0273 a0001c0001t0001g0296 a0001c0001t0001g0303 a0004c0004t0001g0060 a0004c0004t0001g0070 a0004c0004t0001g0126 a0004c0004t0001g0142 a0004c0004t0001g0160 a0011c0012t0001g0175 a0021c0025t0001g0194	15	308	0.0487	18	c.133 others(37): Show c.1336+2524_1336+2525insCTTTCCCTTCCTTTCTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714664	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0057 a0004c0004t0001g0057	1	308	0.0033	18	c.151 others(35): Show c.1519+748_1519+749insGAGAGAGAGAGAGAGAGA	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(11): Show TATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01358.hp2 HG02698.hp2 others(1): Show HG00673.hp1 HG01358.hp2 HG02698.hp2 NA18983.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0004 a0006c0006 a0001c0001 a0004c0004 a0006c0006	a0001c0001t0001 a0004c0004t0001 a0006c0006t0001 a0001c0001t0001 a0004c0004t0001 a0006c0006t0001	a0001c0001t0001g0039 a0001c0001t0001g0222 a0004c0004t0001g0192 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0222 a0004c0004t0001g0192 a0006c0006t0001g0205	4	308	0.0130	18	c.151 others(35): Show c.1519+752_1519+753insTATAGAGAGAGAGAGAGA	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(11): Show TATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0264 a0001c0010t0001g0264	1	308	0.0033	18	c.151 others(35): Show c.1519+752_1519+753insTATATAGAGAGAGAGAGA	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(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0143 a0003c0003t0001g0143	1	308	0.0033	18	c.151 others(35): Show c.1519+752_1519+753insTATATATAGAGAGAGAGA	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(11): Show TATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0261 a0006c0006t0001g0261	1	308	0.0033	18	c.151 others(35): Show c.1519+752_1519+753insTATATATATAGAGAGAGA	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(11): Show TATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0140 a0004c0004t0001g0140	1	308	0.0033	18	c.151 others(35): Show c.1519+752_1519+753insTATATATATATAGAGAGA	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(11): Show TATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0276 a0001c0010t0001g0276	1	308	0.0033	18	c.151 others(35): Show c.1519+752_1519+753insTATATATATATATAGAGA	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(11): Show TATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	308	0.0033	18	c.151 others(35): Show c.1519+752_1519+753insTATATATATATATATAGA	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(11): Show AGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18978.hp2 NA20752.hp1 HG03688.hp2 NA18978.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0284 a0004c0004t0001g0058 a0004c0004t0001g0059 a0001c0001t0001g0284 a0004c0004t0001g0058 a0004c0004t0001g0059	3	308	0.0097	18	c.151 others(35): Show c.1519+801_1519+802insGGAGAGAGAGAGAGAGAG	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFLAR_chr2_201111164_201181687	201114013	G G	GATATATA others(11): Show GATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0063 a0001c0001t0032g0063	1	234	0.0043	18	c.-26 others(29): Show c.-2606_-2605insATATATATATATATATAT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2150		chr2	TogoVar
CFTR_chr7_117475025_117673665	117490312	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0187 a0001c0003t0003g0187	1	202	0.0050	18	c.53+ others(35): Show c.53+10191_53+10208dupCACACACACACACACACA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117499429	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0115 a0001c0004t0002g0115	1	202	0.0050	18	c.54- others(33): Show c.54-4808_54-4791dupGTGTGTGTGTGTGTGTGT	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(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19240.hp1 HG02970.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0013 a0001c0006t0006g0014 a0001c0006t0006g0013 a0001c0006t0006g0014	2	202	0.0099	18	c.121 others(35): Show c.1210-293_1210-276dupGTGTGTGTGTGTGTGTGT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612234	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0008 a0001c0004t0002g0008	1	202	0.0050	18	c.336 others(35): Show c.3367+436_3367+453dupCACACACACACACACACA	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(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00639.hp2 others(27): Show HG00408.hp2 HG00544.hp2 HG00639.hp2 HG00735.hp1 HG01106.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02132.hp1 HG02155.hp1 HG02300.hp2 HG02523.hp2 NA18939.hp1 NA18947.hp2 NA18948.hp2 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18965.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18997.hp1 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19062.hp2 NA19077.hp1 NA19082.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0006 others(1): Show a0001c0002 a0001c0003 a0001c0006 a0004c0010	a0001c0002t0002 a0001c0003t0001 a0001c0003t0011 others(3): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0011 a0001c0003t0022 a0001c0006t0003 a0004c0010t0003	a0001c0002t0002g0306 a0001c0002t0002g0322 a0001c0002t0002g0323 others(23): Show a0001c0002t0002g0306 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0292 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0307 a0001c0003t0011g0032 a0001c0003t0011g0294 a0001c0003t0011g0295 a0001c0003t0011g0303 a0001c0003t0022g0293 a0001c0006t0003g0011 a0001c0006t0003g0031 a0001c0006t0003g0287 a0001c0006t0003g0291 a0001c0006t0003g0298 a0004c0010t0003g0290	30	410	0.0732	18	c.657 others(35): Show c.657+2031_657+2048dupGTGTGTGTGTGTGTGTGT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73449508	C C	CACACACA others(11): Show CACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01256.hp2 HG01258.hp1 others(3): Show HG01070.hp2 HG01256.hp2 HG01258.hp1 HG02602.hp1 HG02698.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0021 a0001c0002 a0001c0003 a0001c0021	a0001c0002t0007 a0001c0002t0042 a0001c0003t0004 others(2): Show a0001c0002t0007 a0001c0002t0042 a0001c0003t0004 a0001c0003t0016 a0001c0021t0016	a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0002t0042g0066 others(3): Show a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0002t0042g0066 a0001c0003t0004g0094 a0001c0003t0016g0096 a0001c0021t0016g0095	6	410	0.0146	18	c.657 others(35): Show c.657+2016_657+2017insTTGTGTGTGTGTGTGTGT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp1 others(27): Show HG00140.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG01074.hp1 HG01256.hp1 HG01433.hp1 HG02027.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02723.hp2 HG02886.hp2 HG03098.hp1 HG03209.hp1 HG03471.hp1 HG03688.hp1 HG03834.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18963.hp2 NA18974.hp2 NA18997.hp2 NA19002.hp1 NA19010.hp1 NA19056.hp2 NA19074.hp1 NA19090.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0001 a0002c0005 others(1): Show a0001c0003 a0002c0001 a0002c0005 a0004c0010	a0001c0003t0009 a0002c0001t0001 a0002c0001t0005 others(10): Show a0001c0003t0009 a0002c0001t0001 a0002c0001t0005 a0002c0001t0009 a0002c0001t0014 a0002c0001t0017 a0002c0001t0021 a0002c0001t0073 a0002c0001t0074 a0002c0005t0002 a0002c0005t0008 a0002c0005t0012 a0004c0010t0003	a0001c0003t0009g0274 a0001c0003t0009g0324 a0002c0001t0001g0006 others(27): Show a0001c0003t0009g0274 a0001c0003t0009g0324 a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0137 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0160 a0002c0001t0001g0163 a0002c0001t0001g0169 a0002c0001t0001g0243 a0002c0001t0001g0256 a0002c0001t0001g0260 a0002c0001t0001g0262 a0002c0001t0005g0020 a0002c0001t0005g0271 a0002c0001t0009g0171 a0002c0001t0009g0181 a0002c0001t0014g0135 a0002c0001t0014g0147 a0002c0001t0017g0199 a0002c0001t0021g0142 a0002c0001t0021g0149 a0002c0001t0021g0240 a0002c0001t0073g0108 a0002c0001t0074g0159 a0002c0005t0002g0153 a0002c0005t0008g0158 a0002c0005t0012g0027 a0004c0010t0003g0276	30	410	0.0732	18	c.-13 others(29): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp1 HG01517.hp2 others(1): Show HG00741.hp2 HG01516.hp1 HG01517.hp2 HG03654.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0025 a0003c0003t0001 a0003c0003t0016 a0001c0001t0025 a0003c0003t0001 a0003c0003t0016	a0001c0001t0025g0228 a0003c0003t0001g0227 a0003c0003t0016g0147 others(1): Show a0001c0001t0025g0228 a0003c0003t0001g0227 a0003c0003t0016g0147 a0003c0003t0016g0198	4	294	0.0136	18	c.-16 others(37): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTT	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(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03834.hp1 NA18952.hp1 others(1): Show HG02132.hp1 HG03834.hp1 NA18952.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0002g0221 others(1): Show a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0002g0221 a0002c0002t0003g0229	4	294	0.0136	18	c.-15 others(37): Show c.-15-28929_-15-28912dupCACACACACACACACACA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57414661	A A	AAACAACA others(11): Show AAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19004.hp2 NA19240.hp1 NA18984.hp1 NA19004.hp2 NA19240.hp1	a0001 a0006 a0024 a0001 a0006 a0024	a0001c0001 a0006c0007 a0024c0024 a0001c0001 a0006c0007 a0024c0024	a0001c0001t0001 a0006c0007t0005 a0024c0024t0002 a0001c0001t0001 a0006c0007t0005 a0024c0024t0002	a0001c0001t0001g0197 a0006c0007t0005g0056 a0024c0024t0002g0111 a0001c0001t0001g0197 a0006c0007t0005g0056 a0024c0024t0002g0111	3	294	0.0102	18	c.-15 others(37): Show c.-15-23321_-15-23304dupCAACAACAACAACAACAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar

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