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
CFAP68_chr11_111874541_111890975	111888050	T T	TGGAGAAA others(9): Show TGGAGAAAAACTGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	392	0.0026	16	c.41 others(27): Show c.4170_*4171insGGAGAAAAACTGTGGG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		2076		chr11	TogoVar
CFAP69_chr7_90240174_90316063	90250187	G G	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG01433.hp1 others(3): Show HG01081.hp1 HG01192.hp1 HG01433.hp1 HG02559.hp2 HG03710.hp2 NA18998.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0002 a0004c0007t0001 a0001c0002t0002 a0004c0007t0001	a0001c0002t0002g0021 a0001c0002t0002g0139 a0001c0002t0002g0140 others(3): Show a0001c0002t0002g0021 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0004c0007t0001g0268	6	338	0.0178	16	c.120 others(33): Show c.120+4676_120+4691dupGAGAGAGAGAGAGAGA	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP70_chr10_73248762_73363864	73290044	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19009.hp1 HG03579.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0035 a0002c0002t0001g0026 a0002c0002t0001g0035	2	220	0.0091	16	c.244 others(35): Show c.2449+1166_2449+1181dupTTTTTTTTTTTTTTTT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73309658	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	220	0.0046	16	c.146 others(33): Show c.1466+499_1466+500insAAAAAAAAAAAAAAAA	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	13/27			chr10	TogoVar
CFAP74_chr1_1916957_2008786	1952590	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0016 a0016	a0016c0061 a0016c0061	a0016c0061t0002 a0016c0061t0002	a0016c0061t0002g0198 a0016c0061t0002g0198	1	278	0.0036	16	c.217 others(35): Show c.2176+3085_2176+3100dupCTTTCTTTCTTTCTTT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1980850	C C	CTCAGAAA others(9): Show CTCAGAAACCGAGACCA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp2 HG02647.hp2 HG03540.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0113 a0002c0008t0002g0114 a0002c0008t0002g0113 a0002c0008t0002g0114	2	278	0.0072	16	c.500 others(33): Show c.500+4520_500+4535dupTGGTCTCGGTTTCTGA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CFAP77_chr9_132405211_132578319	132485985	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	322	0.0031	16	c.196 others(35): Show c.196-12669_196-12654dupATATATATATATATAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486016	A A	ATATATAT others(9): Show ATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03017.hp2 HG01358.hp1 HG03017.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0001 a0001c0001t0002 a0005c0006t0001	a0001c0001t0002g0105 a0005c0006t0001g0065 a0001c0001t0002g0105 a0005c0006t0001g0065	2	322	0.0062	16	c.196 others(35): Show c.196-12668_196-12667insGTATGTATATATATAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486018	A A	ATATATAT others(9): Show ATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01167.hp1 HG01169.hp1 HG01069.hp2 HG01167.hp1 HG01169.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0254 a0001c0001t0001g0255 a0005c0006t0001g0052 a0001c0001t0001g0254 a0001c0001t0001g0255 a0005c0006t0001g0052	3	322	0.0093	16	c.196 others(35): Show c.196-12666_196-12665insGTATGTATATATATAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486020	A A	ATATATAT others(9): Show ATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	322	0.0031	16	c.196 others(35): Show c.196-12664_196-12663insGTATGTATATATATAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132559346	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02559.hp1 HG02572.hp1 others(5): Show HG01106.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG03225.hp1 HG03453.hp2 HG03654.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0003 a0001c0005t0005	a0001c0001t0001g0168 a0001c0001t0001g0222 a0001c0001t0001g0245 others(5): Show a0001c0001t0001g0168 a0001c0001t0001g0222 a0001c0001t0001g0245 a0001c0001t0001g0294 a0001c0001t0002g0047 a0001c0002t0001g0059 a0001c0004t0003g0285 a0001c0005t0005g0158	8	322	0.0248	16	c.733 others(35): Show c.733-13037_733-13022dupAAAAAAAAAAAAAAAA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP90_chr5_7825378_7856133	7850785	T T	TGCCCAGC others(9): Show TGCCCAGCCGCCCAGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	420	0.0024	16	c.147 others(29): Show c.147+74_147+89dupGGCTGGGCGGCTGGGC	CFAP90	ENSG00000215217.7	transcript	ENST00000399810.7	protein_coding	1/2			chr5	TogoVar
CFAP91_chr3_119698022_119772102	119707732	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01123.hp2 others(16): Show HG00639.hp2 HG01081.hp1 HG01123.hp2 HG01358.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG02293.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02976.hp1 HG06807.hp2 NA18944.hp1 NA18993.hp2 NA19012.hp2 NA19066.hp2 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0007 a0006c0010 a0001c0002 a0001c0007 a0006c0010	a0001c0002t0002 a0001c0002t0013 a0001c0007t0008 others(2): Show a0001c0002t0002 a0001c0002t0013 a0001c0007t0008 a0006c0010t0014 a0006c0010t0017	a0001c0002t0002g0001 a0001c0002t0002g0038 a0001c0002t0002g0039 others(13): Show a0001c0002t0002g0001 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0013g0046 a0001c0007t0008g0004 a0001c0007t0008g0030 a0001c0007t0008g0031 a0006c0010t0014g0032 a0006c0010t0014g0033 a0006c0010t0017g0034	19	386	0.0492	16	c.359 others(31): Show c.359+173_359+188dupTATATATATATATATA	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP91_chr3_119698022_119772102	119730601	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03654.hp1 HG02135.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0001g0205 a0001c0001t0001g0222	2	386	0.0052	16	c.101 others(33): Show c.1018+258_1018+273dupTGTGTGTGTGTGTGTG	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP91_chr3_119698022_119772102	119738332	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19070.hp2 NA19000.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0188 a0001c0001t0001g0198	2	386	0.0052	16	c.146 others(33): Show c.1461+869_1461+884dupTTTTTTTTTTTTTTTT	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP91_chr3_119698022_119772102	119740835	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	386	0.0026	16	c.168 others(33): Show c.1680+165_1680+180dupTGTGTGTGTGTGTGTG	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP95_chr9_69815817_69911227	69820432	G G	GACACACA others(9): Show GACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG03471.hp1 HG03704.hp2 HG02523.hp1 HG03471.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0271 a0001c0002t0001g0277 a0001c0002t0001g0289 a0001c0001t0001g0271 a0001c0002t0001g0277 a0001c0002t0001g0289	3	380	0.0079	16	c.-44 others(25): Show c.-448_-447insACACACACACACACAC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding		384		chr9	TogoVar
CFAP95_chr9_69815817_69911227	69820432	G G	GACACACG others(9): Show GACACACGCACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	380	0.0026	16	c.-44 others(25): Show c.-448_-447insACACACGCACACACAC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding		384		chr9	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01496.hp1 HG01934.hp1 others(13): Show HG00280.hp2 HG01496.hp1 HG01934.hp1 HG02040.hp2 HG02602.hp1 HG02735.hp1 HG02922.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp2 NA18954.hp1 NA18990.hp1 NA19043.hp1 NA19057.hp2 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0181 a0001c0001t0001g0221 a0001c0001t0001g0232 others(13): Show a0001c0001t0001g0181 a0001c0001t0001g0221 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0307 a0001c0001t0001g0349 a0001c0001t0001g0355 a0001c0001t0001g0358 a0001c0002t0001g0270 a0001c0002t0001g0283 a0001c0002t0001g0308 a0001c0002t0001g0322 a0001c0002t0001g0324 a0001c0002t0001g0326	16	380	0.0421	16	c.153 others(33): Show c.153-3335_153-3320dupATATATATATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTTTATAT others(9): Show TTTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA19085.hp2 HG01943.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0110 a0001c0001t0001g0111	2	380	0.0053	16	c.153 others(33): Show c.153-3352_153-3351insTTATATATATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843505	C C	CCCCCCCT others(9): Show CCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	380	0.0026	16	c.153 others(33): Show c.153-1010_153-1009insCCCCTCCTCCTCCTCC	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(9): Show TCCCCCCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	380	0.0026	16	c.153 others(33): Show c.153-1001_153-1000insCCCCCTCCTCCTCCCC	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(9): Show CTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0092 a0003c0004t0001g0092	1	380	0.0026	16	c.507 others(33): Show c.507+8475_507+8476insCTCTCTCTCTGTGTGT	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(9): Show CTCTCTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04184.hp1 NA19090.hp1 others(2): Show HG03942.hp1 HG04184.hp1 NA19090.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0182 a0001c0001t0001g0186 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0201	5	380	0.0132	16	c.507 others(33): Show c.507+8475_507+8476insCTCTCTGTGTGTGTGT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69895369	C C	CTCTCTGT others(9): Show CTCTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01071.hp2 others(10): Show HG00733.hp2 HG01069.hp2 HG01071.hp2 NA18940.hp2 NA18943.hp1 NA18949.hp2 NA18964.hp1 NA18969.hp2 NA18992.hp1 NA19004.hp1 NA19012.hp2 NA19074.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0056 others(10): Show a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0349	13	380	0.0342	16	c.507 others(33): Show c.507+8475_507+8476insCTCTGTGTGTGTGTGT	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(9): Show CTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0235	1	380	0.0026	16	c.507 others(33): Show c.507+8475_507+8476insCTGTGTGTGTGTGTGT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97D2_chr13_114174257_114228085	114214582	T T	TTTTGTTT others(9): Show TTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG01243.hp2 others(14): Show HG00408.hp1 HG00423.hp2 HG01243.hp2 HG01257.hp1 HG02132.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp1 HG03225.hp2 HG04228.hp1 NA18952.hp1 NA18983.hp2 NA18992.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008	a0001c0001t0005g0016 a0001c0001t0005g0037 a0001c0001t0005g0085 others(13): Show a0001c0001t0005g0016 a0001c0001t0005g0037 a0001c0001t0005g0085 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0098 a0001c0001t0005g0100 a0001c0001t0005g0103 a0001c0001t0007g0116 a0001c0001t0007g0130 a0001c0001t0007g0152 a0001c0001t0007g0183 a0001c0001t0007g0268 a0001c0001t0008g0099	17	400	0.0425	16	c.291 others(33): Show c.291-7912_291-7897dupTGTTTGTTTGTTTGTT	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97_chr4_185154665_185209000	185193887	G G	GATAAATA others(9): Show GATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp1 others(105): Show HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03139.hp2 HG03225.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19059.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0002c0002 a0002c0013 others(3): Show a0001c0003 a0002c0002 a0002c0013 a0002c0014 a0003c0006 a0004c0008	a0001c0003t0004 a0002c0002t0001 a0002c0002t0012 others(7): Show a0001c0003t0004 a0002c0002t0001 a0002c0002t0012 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0013t0016 a0002c0014t0001 a0003c0006t0001 a0004c0008t0001	a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0003t0004g0034 others(87): Show a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0037 a0001c0003t0004g0038 a0001c0003t0004g0039 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0282 a0002c0002t0001g0284 a0002c0002t0012g0182 a0002c0002t0012g0183 a0002c0002t0017g0238 a0002c0002t0018g0276 a0002c0002t0019g0226 a0002c0013t0016g0212 a0002c0014t0001g0242 a0003c0006t0001g0024 a0003c0006t0001g0197 a0004c0008t0001g0187	108	350	0.3086	16	c.-16 others(33): Show c.-16-2691_-16-2676dupTTATTTATTTATTTAT	CFAP97	ENSG00000164323.15	transcript	ENST00000458385.7	protein_coding	1/4			chr4	TogoVar
CFAP97_chr4_185154665_185209000	185198789	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG02738.hp1 others(7): Show HG00609.hp1 HG00621.hp2 HG02738.hp1 HG02738.hp2 HG03688.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp2 NA18979.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0001 a0001c0003t0004 a0002c0002t0001	a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0003t0004g0034 others(7): Show a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0002c0002t0001g0218	10	350	0.0286	16	c.-17 others(33): Show c.-17+5108_-17+5109insTTTTTTTTTTTTTTTT	CFAP97	ENSG00000164323.15	transcript	ENST00000458385.7	protein_coding	1/4			chr4	TogoVar
CFAP99_chr4_2413955_2468002	2415451	T T	TACACACA others(9): Show TACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01069.hp2 others(26): Show HG00544.hp2 HG00609.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01891.hp1 HG01975.hp2 HG02055.hp1 HG02080.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA19090.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0016	a0001c0002 a0001c0003 a0001c0004 others(8): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0021 a0001c0024 a0002c0001 a0002c0005 a0005c0009 a0005c0017 a0016c0036	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(11): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0002 a0001c0021t0001 a0001c0024t0001 a0002c0001t0001 a0002c0005t0001 a0002c0005t0002 a0005c0009t0001 a0005c0017t0001 a0016c0036t0002	a0001c0002t0001g0307 a0001c0002t0003g0306 a0001c0002t0003g0312 others(26): Show a0001c0002t0001g0307 a0001c0002t0003g0306 a0001c0002t0003g0312 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0232 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0004t0002g0045 a0001c0006t0001g0167 a0001c0006t0001g0168 a0001c0006t0002g0034 a0001c0006t0002g0042 a0001c0021t0001g0308 a0001c0024t0001g0185 a0002c0001t0001g0227 a0002c0001t0001g0233 a0002c0005t0001g0257 a0002c0005t0002g0036 a0002c0005t0002g0037 a0005c0009t0001g0156 a0005c0009t0001g0158 a0005c0009t0001g0159 a0005c0017t0001g0157 a0005c0017t0001g0166 a0016c0036t0002g0035	29	350	0.0829	16	c.-36 others(27): Show c.-3660_-3659insACACACACACACACAC	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3503		chr4	TogoVar
CFAP99_chr4_2413955_2468002	2440149	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG01074.hp1 others(67): Show HG00280.hp1 HG00408.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp2 HG02015.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03139.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18975.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA19009.hp1 NA19009.hp2 NA19056.hp2 NA19060.hp1 NA19066.hp1 NA19070.hp1 NA19087.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0013	a0001c0002 a0001c0003 a0001c0004 others(10): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0001c0015 a0002c0001 a0002c0005 a0003c0007 a0003c0010 a0003c0016 a0008c0011 a0013c0020	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(11): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0013t0001 a0001c0015t0001 a0002c0001t0001 a0002c0005t0001 a0003c0007t0001 a0003c0010t0001 a0003c0016t0001 a0008c0011t0001 a0013c0020t0001	a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0055 others(61): Show a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0111 a0001c0002t0001g0118 a0001c0002t0001g0220 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0014 a0001c0003t0001g0016 a0001c0003t0001g0021 a0001c0003t0001g0032 a0001c0003t0001g0054 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0074 a0001c0003t0001g0097 a0001c0003t0001g0104 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0004t0001g0067 a0001c0004t0001g0206 a0001c0004t0001g0302 a0001c0004t0002g0045 a0001c0006t0001g0012 a0001c0013t0001g0115 a0001c0015t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0061 a0002c0001t0001g0085 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0114 a0002c0005t0001g0103 a0002c0005t0001g0105 a0002c0005t0001g0116 a0003c0007t0001g0052 a0003c0007t0001g0071 a0003c0007t0001g0117 a0003c0007t0001g0268 a0003c0010t0001g0069 a0003c0010t0001g0080 a0003c0016t0001g0059 a0003c0016t0001g0068 a0008c0011t0001g0090 a0008c0011t0001g0091 a0013c0020t0001g0073	70	350	0.2000	16	c.351 others(33): Show c.351+2000_351+2001insTTTTTTTTTTTTTTTT	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP99_chr4_2413955_2468002	2466647	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0262 a0007c0014t0001g0262	1	350	0.0029	16	c.37 others(27): Show c.3721_*3722insTGTGTGTGTGTGTGTG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3646		chr4	TogoVar
CFC1B_chr2_130516222_130533603	130532664	A A	ATAATAAT others(9): Show ATAATAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0004 a0002c0004t0003g0004	1	12	0.0833	16	c.47 others(27): Show c.4769_*4770insTAATAATAATAATAAT	CFC1B	ENSG00000152093.8	transcript	ENST00000281882.8	protein_coding		4062		chr2	TogoVar
CFDP1_chr16_75288710_75438503	75297145	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00741.hp2 others(11): Show HG00099.hp2 HG00558.hp1 HG00741.hp2 HG01255.hp2 HG02083.hp2 NA18939.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA18963.hp1 NA18975.hp2 NA18995.hp1 NA19063.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0206 a0001c0001t0001g0208 others(11): Show a0001c0001t0001g0034 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0255 a0001c0001t0001g0257	14	314	0.0446	16	c.810 others(33): Show c.810-3104_810-3103insACACACACACACACAC	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75297194	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	314	0.0032	16	c.810 others(33): Show c.810-3153_810-3152insAACACACACACACACA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75303400	A A	AATGTATG others(9): Show AATGTATGTATGTATGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(97): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03669.hp1 HG03688.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA19000.hp2 NA19003.hp1 NA19006.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19058.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp2 NA19084.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0001g0123 others(97): Show a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0001g0123 a0001c0001t0001g0151 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0004c0006t0001g0247	100	314	0.3185	16	c.809 others(33): Show c.809+1608_809+1623dupACATACATACATACAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349680	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18975.hp2 HG01123.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0272 a0001c0001t0001g0223 a0001c0001t0001g0272	2	314	0.0064	16	c.651 others(35): Show c.651-44499_651-44498insATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19006.hp1 NA18941.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0230 a0001c0001t0001g0008 a0001c0001t0001g0230	2	314	0.0064	16	c.651 others(35): Show c.651-44501_651-44500insATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02523.hp1 HG02523.hp2 others(1): Show HG00323.hp1 HG02523.hp1 HG02523.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0235 a0001c0001t0001g0279 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0235 a0001c0001t0001g0279 a0001c0001t0001g0281	4	314	0.0127	16	c.651 others(35): Show c.651-44503_651-44502insATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01257.hp2 HG02258.hp1 others(1): Show HG01192.hp2 HG01257.hp2 HG02258.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0220 a0001c0001t0001g0278 others(1): Show a0001c0001t0001g0198 a0001c0001t0001g0220 a0001c0001t0001g0278 a0001c0001t0001g0282	4	314	0.0127	16	c.651 others(35): Show c.651-44505_651-44504insATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01123.hp1 HG01168.hp2 others(10): Show HG00423.hp2 HG01123.hp1 HG01168.hp2 HG01934.hp1 HG02083.hp1 HG02818.hp1 HG03654.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp2 NA18981.hp2 NA18998.hp1 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0002 a0002c0003t0002 a0005c0005t0002 a0001c0001t0002 a0002c0003t0002 a0005c0005t0002	a0001c0001t0002g0147 a0001c0001t0002g0155 a0001c0001t0002g0156 others(10): Show a0001c0001t0002g0147 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0172 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0002c0003t0002g0158 a0002c0003t0002g0179 a0005c0005t0002g0161	13	314	0.0414	16	c.651 others(35): Show c.651-44517_651-44516insGTGTATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75363942	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02647.hp2 others(3): Show HG01243.hp2 HG02109.hp1 HG02647.hp2 HG02818.hp1 HG02886.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0149 a0001c0001t0002g0152 a0001c0001t0002g0156 others(3): Show a0001c0001t0001g0149 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0181 a0001c0001t0002g0182	6	314	0.0191	16	c.650 others(35): Show c.650+31132_650+31147dupGTGTGTGTGTGTGTGT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75384852	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	314	0.0032	16	c.650 others(35): Show c.650+10222_650+10237dupTATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFD_chr19_854664_868641	864042	C C	CCACACAC others(9): Show CCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02055.hp1 HG02257.hp2 others(2): Show HG00597.hp1 HG02055.hp1 HG02257.hp2 NA18963.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0049 a0001c0001t0002g0002 a0001c0001t0002g0013 others(2): Show a0001c0001t0001g0049 a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0011g0022	5	287	0.0174	16	c.80 others(25): Show c.804_*805insCACACACACACACACA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		402		chr19	TogoVar
CFD_chr19_854664_868641	864060	A A	ACACACAC others(9): Show ACACACACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	287	0.0035	16	c.82 others(25): Show c.822_*823insCACACACACACACACG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFD_chr19_854664_868641	867292	C C	CGGGGGCC others(9): Show CGGGGGCCTTAAAGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG02080.hp1 NA19240.hp1 HG01358.hp2 HG02080.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0012 a0001c0001t0001g0001 a0001c0001t0004g0012	3	287	0.0105	16	c.40 others(27): Show c.4054_*4055insGGGGGCCTTAAAGTGG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3652		chr19	TogoVar
CFHR1_chr1_196814731_196837189	196824748	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG01243.hp2 others(7): Show HG00408.hp2 HG01106.hp2 HG01243.hp2 HG01515.hp2 HG01928.hp1 HG01975.hp2 HG02300.hp1 NA18952.hp2 NA18966.hp1 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0009 a0001c0002t0002g0081 a0001c0003t0002g0017 others(1): Show a0001c0002t0002g0009 a0001c0002t0002g0081 a0001c0003t0002g0017 a0001c0003t0002g0047	10	275	0.0364	16	c.59- others(29): Show c.59-711_59-696dupATATATATATATATAT	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(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0009 a0002c0001t0002g0009	1	261	0.0038	16	c.-21 others(27): Show c.-2193_-2192insTATATATATATATATA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2145		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196885599	T T	TATATATA others(9): Show TATATATAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 NA18940.hp2 HG02896.hp1 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0027 a0002c0002t0001g0002 a0002c0002t0001g0027	2	350	0.0057	16	c.-25 others(27): Show c.-2552_-2551insATATATAGAGAGAGAG	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2452		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196885599	T T	TATATATA others(9): Show TATATATATATATAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	350	0.0029	16	c.-25 others(27): Show c.-2552_-2551insATATATATATATAGAG	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2452		chr1	TogoVar

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