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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CENPX_chr17_82013703_82027878	82026564	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	20	c.-37 others(31): Show c.-3723_-3704dupCACACACACACACACACACA		CENPX	ENSG00000169689.15	transcript	ENST00000392359.8	protein_coding					3687		chr17	TogoVar
CEP112_chr17_65630537_66197133	65654056	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0012 a0002c0001t0001g0012	1	112	0.0089	20	c.269 others(41): Show c.2698-13011_2698-12992dupTTTTTTTTTTTTTTTTTTTT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65660177	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01123.hp1 others(10): Show HG00735.hp2 HG01109.hp2 HG01123.hp1 HG03017.hp2 HG03195.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18983.hp2 NA19002.hp2 NA19063.hp1 NA19063.hp2 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0003c0005 a0005c0009	a0001c0002t0001 a0001c0003t0006 a0001c0003t0007 others(3): Show a0001c0002t0001 a0001c0003t0006 a0001c0003t0007 a0002c0001t0001 a0003c0005t0001 a0005c0009t0005	a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0084 others(10): Show a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0084 a0001c0003t0006g0003 a0001c0003t0007g0004 a0002c0001t0001g0016 a0002c0001t0001g0037 a0002c0001t0001g0045 a0002c0001t0001g0079 a0002c0001t0001g0097 a0002c0001t0001g0100 a0003c0005t0001g0048 a0005c0009t0005g0002	13	112	0.1161	20	c.269 others(41): Show c.2698-19132_2698-19113dupAGGAAGGAAGGAAGGAAGGA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65754609	A A	AATAAAAT others(13): Show AATAAAATAACATAAAATAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG02559.hp2 others(2): Show HG01243.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0001t0001	a0001c0002t0001g0061 a0001c0003t0001g0042 a0001c0003t0001g0105 others(2): Show a0001c0002t0001g0061 a0001c0003t0001g0042 a0001c0003t0001g0105 a0001c0003t0001g0107 a0002c0001t0001g0063	5	112	0.0446	20	c.239 others(39): Show c.2395-3886_2395-3885insCTTATTTTATGTTATTTTAT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65821484	T T	TTATATAT others(13): Show TTATATATATAATTATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0064 a0002c0001t0001g0064	1	112	0.0089	20	c.239 others(41): Show c.2394+30300_2394+30319dupTATATATAATTATATATATA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65916287	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	112	0.0089	20	c.198 others(41): Show c.1980+11294_1980+11295insTACACACACACACACACACA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	65920362	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG04115.hp2 HG02280.hp2 HG04115.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0003 a0002c0001t0001 a0002c0001t0003	a0002c0001t0001g0028 a0002c0001t0003g0008 a0002c0001t0001g0028 a0002c0001t0003g0008	2	112	0.0179	20	c.198 others(39): Show c.1980+7200_1980+7219dupATATATATATATATATATAT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	66009189	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0004 a0001c0003t0007g0004	1	112	0.0089	20	c.165 others(39): Show c.1657-3440_1657-3421dupCACACACACACACACACACA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	16/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	66025920	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03139.hp2 NA19002.hp2 others(1): Show HG01255.hp2 HG03139.hp2 NA19002.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0047 a0001c0002t0001g0084 a0001c0002t0001g0103 others(1): Show a0001c0002t0001g0047 a0001c0002t0001g0084 a0001c0002t0001g0103 a0002c0001t0001g0094	4	112	0.0357	20	c.165 others(39): Show c.1656+1561_1656+1580dupGTGTGTGTGTGTGTGTGTGT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	16/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	66034970	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp1 HG01346.hp1 others(6): Show HG00280.hp1 HG01109.hp1 HG01346.hp1 HG02451.hp2 HG03834.hp2 HG04115.hp1 NA19056.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0073 others(6): Show a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0073 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0103 a0003c0005t0001g0055	9	112	0.0804	20	c.121 others(39): Show c.1219-4948_1219-4947insCACACACACACACACACACA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	66034970	T T	TTTTGTGT others(13): Show TTTTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	112	0.0089	20	c.121 others(39): Show c.1219-4948_1219-4947insCACACACACACACACACAAA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	66034970	T T	TTTTTTGT others(13): Show TTTTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	112	0.0089	20	c.121 others(39): Show c.1219-4948_1219-4947insCACACACACACACACAAAAA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	66034976	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp1 HG03225.hp1 HG02055.hp2 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0069 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0069	3	112	0.0268	20	c.121 others(39): Show c.1219-4954_1219-4953insTACACACACACACACACACA		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	66092356	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0108 a0002c0007t0001g0108	1	112	0.0089	20	c.768 others(37): Show c.768+3875_768+3894dupGTGTGTGTGTGTGTGTGTGT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	8/26						chr17	TogoVar
CEP112_chr17_65630537_66197133	66132168	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0002 a0005c0009t0005g0002	1	112	0.0089	20	c.564 others(35): Show c.564+482_564+501dupTTTTTTTTTTTTTTTTTTTT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	5/26						chr17	TogoVar
CEP120_chr5_123339892_123428403	123370750	A A	ATATATAT others(13): Show ATATATATTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03486.hp1 NA20129.hp2 HG02559.hp2 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0009 a0001c0006t0008 a0001c0006t0009	a0001c0006t0008g0010 a0001c0006t0009g0030 a0001c0006t0008g0010 a0001c0006t0009g0030	3	376	0.0080	20	c.248 others(39): Show c.2481+1880_2481+1899dupATATATATATAAAATATATA		CEP120	ENSG00000168944.17	transcript	ENST00000306467.10	protein_coding	17/19						chr5	TogoVar
CEP126_chr11_101910010_102006062	102003180	G G	GTATATAT others(13): Show GTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	336	0.0030	20	c.55 others(31): Show c.5537_*5538insTATATATATATATATATATA		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding					2119		chr11	TogoVar
CEP126_chr11_101910010_102006062	102003186	G G	GTATATAT others(13): Show GTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01106.hp1 others(6): Show HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01256.hp1 HG01258.hp2 HG02055.hp2 HG02717.hp1 HG03209.hp2 NA19060.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0031 a0002c0003t0003 a0004c0005t0001 others(1): Show a0001c0001t0031 a0002c0003t0003 a0004c0005t0001 a0004c0005t0005	a0001c0001t0031g0141 a0002c0003t0003g0017 a0002c0003t0003g0143 others(6): Show a0001c0001t0031g0141 a0002c0003t0003g0017 a0002c0003t0003g0143 a0002c0003t0003g0144 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0003g0147 a0004c0005t0001g0096 a0004c0005t0005g0115	9	336	0.0268	20	c.55 others(31): Show c.5543_*5544insTATATATATATATATATATA		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding					2125		chr11	TogoVar
CEP128_chr14_80491479_80946738	80561896	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp2 HG02109.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0161 a0001c0001t0004g0162	2	164	0.0122	20	c.285 others(39): Show c.2857-2595_2857-2594insTATATATATATATATATATA		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	20/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80811818	T T	TTAGATAG others(13): Show TTAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00733.hp1 others(50): Show HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01109.hp2 HG01261.hp1 HG01433.hp1 HG01891.hp2 HG01934.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18952.hp2 NA19005.hp1 NA19009.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19079.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0013	a0001c0001 a0001c0012 a0001c0022 others(8): Show a0001c0001 a0001c0012 a0001c0022 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0008c0011 a0009c0016 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0012t0001 a0001c0022t0005 a0002c0002t0003 a0002c0002t0004 a0003c0003t0002 a0003c0003t0006 a0004c0004t0003 a0004c0004t0013 a0005c0005t0001 a0006c0007t0004 a0008c0011t0002 a0009c0016t0006 a0013c0021t0007	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 others(50): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0002g0099 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0003g0149 a0001c0001t0004g0094 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0005g0006 a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0052 a0001c0001t0006g0100 a0001c0001t0006g0110 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0012t0001g0049 a0001c0022t0005g0015 a0002c0002t0003g0081 a0002c0002t0003g0090 a0002c0002t0003g0091 a0002c0002t0003g0092 a0002c0002t0003g0136 a0002c0002t0004g0083 a0002c0002t0004g0138 a0002c0002t0004g0139 a0002c0002t0004g0152 a0003c0003t0002g0120 a0003c0003t0002g0127 a0003c0003t0006g0117 a0004c0004t0003g0140 a0004c0004t0013g0087 a0005c0005t0001g0008 a0006c0007t0004g0147 a0008c0011t0002g0109 a0009c0016t0006g0105 a0013c0021t0007g0088	53	164	0.3232	20	c.121 others(41): Show c.1210-18728_1210-18709dupTCTATCTATCTATCTATCTA		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	13/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80909371	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0158 a0002c0002t0006g0158	1	164	0.0061	20	c.235 others(37): Show c.235-3310_235-3291dupTGTGTGTGTGTGTGTGTGTG		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	4/24						chr14	TogoVar
CEP131_chr17_81184596_81227965	81205360	T T	TGGGTAGG others(13): Show TGGGTAGGAGGGGCAGCAGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0025 a0025	a0025c0035 a0025c0035	a0025c0035t0003 a0025c0035t0003	a0025c0035t0003g0314 a0025c0035t0003g0314	1	384	0.0026	20	c.515 others(37): Show c.515+1364_515+1383dupCACTGCTGCCCCTCCTACCC		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	5/25						chr17	TogoVar
CEP135_chr4_55943945_56038361	55978167	A A	AGGGAACT others(13): Show AGGGAACTCATGTTTTACTGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0005 a0001c0013t0005	a0001c0013t0005g0189 a0001c0013t0005g0189	1	346	0.0029	20	c.147 others(39): Show c.1474-1974_1474-1955dupGGAACTCATGTTTTACTGGG		CEP135	ENSG00000174799.12	transcript	ENST00000257287.5	protein_coding	11/25					INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP170B_chr14_104860268_104901747	104872479	G G	GCGTGTGT others(13): Show GCGTGTGTGCCGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG01069.hp2 others(61): Show HG00438.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp2 HG01167.hp2 HG01255.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03834.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18963.hp2 NA18982.hp2 NA19043.hp2 NA19058.hp2 NA19064.hp2 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0008 a0011 a0017 a0024 a0026	a0001c0001 a0001c0005 a0001c0006 others(29): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0001c0014 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0032 a0001c0034 a0001c0035 a0001c0037 a0001c0038 a0001c0061 a0001c0062 a0001c0065 a0001c0069 a0001c0070 a0001c0071 a0001c0073 a0001c0074 a0001c0075 a0002c0064 a0003c0026 a0003c0067 a0003c0078 a0008c0063 a0011c0027 a0017c0033 a0024c0036 a0026c0072	a0001c0001t0026 a0001c0005t0003 a0001c0006t0005 others(30): Show a0001c0001t0026 a0001c0005t0003 a0001c0006t0005 a0001c0006t0007 a0001c0008t0003 a0001c0014t0001 a0001c0017t0002 a0001c0018t0003 a0001c0019t0002 a0001c0020t0002 a0001c0032t0024 a0001c0034t0004 a0001c0035t0013 a0001c0037t0005 a0001c0038t0005 a0001c0061t0017 a0001c0062t0002 a0001c0065t0002 a0001c0069t0002 a0001c0070t0001 a0001c0071t0003 a0001c0073t0002 a0001c0074t0002 a0001c0075t0002 a0002c0064t0002 a0003c0026t0002 a0003c0067t0002 a0003c0078t0002 a0008c0063t0002 a0011c0027t0003 a0017c0033t0009 a0024c0036t0007 a0026c0072t0002	a0001c0001t0026g0264 a0001c0005t0003g0014 a0001c0005t0003g0032 others(55): Show a0001c0001t0026g0264 a0001c0005t0003g0014 a0001c0005t0003g0032 a0001c0005t0003g0251 a0001c0005t0003g0253 a0001c0005t0003g0254 a0001c0005t0003g0255 a0001c0005t0003g0256 a0001c0005t0003g0257 a0001c0005t0003g0260 a0001c0006t0005g0023 a0001c0006t0005g0155 a0001c0006t0005g0271 a0001c0006t0007g0024 a0001c0008t0003g0014 a0001c0008t0003g0258 a0001c0008t0003g0261 a0001c0008t0003g0262 a0001c0008t0003g0265 a0001c0008t0003g0266 a0001c0008t0003g0267 a0001c0014t0001g0017 a0001c0014t0001g0077 a0001c0017t0002g0170 a0001c0017t0002g0173 a0001c0017t0002g0174 a0001c0018t0003g0013 a0001c0019t0002g0167 a0001c0019t0002g0168 a0001c0019t0002g0172 a0001c0020t0002g0026 a0001c0020t0002g0160 a0001c0020t0002g0164 a0001c0032t0024g0175 a0001c0034t0004g0156 a0001c0035t0013g0158 a0001c0037t0005g0157 a0001c0038t0005g0176 a0001c0061t0017g0178 a0001c0062t0002g0177 a0001c0065t0002g0268 a0001c0069t0002g0026 a0001c0070t0001g0166 a0001c0071t0003g0252 a0001c0073t0002g0162 a0001c0074t0002g0161 a0001c0075t0002g0163 a0002c0064t0002g0171 a0003c0026t0002g0025 a0003c0026t0002g0250 a0003c0067t0002g0025 a0003c0078t0002g0249 a0008c0063t0002g0169 a0011c0027t0003g0259 a0011c0027t0003g0263 a0017c0033t0009g0023 a0024c0036t0007g0159 a0026c0072t0002g0165	64	328	0.1951	20	c.106 others(37): Show c.106-3758_106-3757insCCGTGTGTGCCGTGTGTGTG		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170_chr1_243119428_243260281	243159761	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0023 a0001c0013t0001g0023	1	303	0.0033	20	c.367 others(39): Show c.3677-3307_3677-3306insCACACACACACACACACACA		CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19						chr1	TogoVar
CEP170_chr1_243119428_243260281	243159763	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp2 others(13): Show HG00099.hp1 HG00408.hp2 HG00438.hp2 HG00639.hp2 HG01109.hp1 HG01515.hp1 HG01517.hp1 HG02027.hp1 HG02109.hp1 HG02293.hp1 HG02523.hp1 HG02735.hp2 HG03540.hp2 NA18522.hp2 NA18979.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0033 others(13): Show a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0271 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0002g0082 a0001c0001t0002g0105 a0001c0001t0002g0240 a0001c0001t0003g0112 a0001c0001t0003g0123 a0001c0001t0008g0104	16	303	0.0528	20	c.367 others(39): Show c.3677-3328_3677-3309dupCACACACACACACACACACA		CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19						chr1	TogoVar
CEP20_chr16_15860719_15893603	15882780	T T	TATACACA others(13): Show TATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0097 a0002c0002t0004g0097	1	433	0.0023	20	c.226 others(37): Show c.226+1227_226+1228insGTGTGTGTGTGTGTGTGTAT		CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	2/4						chr16	TogoVar
CEP290_chr12_88044016_88147088	88086704	T T	TATCCATC others(13): Show TATCCATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00609.hp2 others(85): Show HG00099.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03453.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18942.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18957.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18982.hp2 NA18984.hp1 NA18990.hp2 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19058.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0011 a0012 a0016 a0017	a0001c0001 a0001c0008 a0001c0017 others(9): Show a0001c0001 a0001c0008 a0001c0017 a0001c0018 a0002c0002 a0004c0005 a0006c0007 a0006c0009 a0011c0026 a0012c0025 a0016c0024 a0017c0016	a0001c0001t0001 a0001c0008t0001 a0001c0017t0001 others(9): Show a0001c0001t0001 a0001c0008t0001 a0001c0017t0001 a0001c0018t0001 a0002c0002t0001 a0004c0005t0002 a0006c0007t0001 a0006c0009t0001 a0011c0026t0001 a0012c0025t0001 a0016c0024t0001 a0017c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(77): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0008t0001g0161 a0001c0008t0001g0163 a0001c0017t0001g0015 a0001c0018t0001g0016 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0136 a0004c0005t0002g0003 a0004c0005t0002g0032 a0006c0007t0001g0086 a0006c0007t0001g0089 a0006c0007t0001g0127 a0006c0007t0001g0128 a0006c0009t0001g0107 a0006c0009t0001g0108 a0006c0009t0001g0109 a0006c0009t0001g0129 a0011c0026t0001g0090 a0012c0025t0001g0106 a0016c0024t0001g0101 a0017c0016t0001g0088	88	234	0.3761	20	c.419 others(37): Show c.4195-226_4195-207dupGGATGGATGGATGGATGGAT		CEP290	ENSG00000198707.17	transcript	ENST00000552810.6	protein_coding	32/53						chr12	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0022 a0022	a0022c0028 a0022c0028	a0022c0028t0002 a0022c0028t0002	a0022c0028t0002g0127 a0022c0028t0002g0127	1	430	0.0023	20	c.-10 others(31): Show c.-1057_-1056insCACACACACACACACACACA		CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding					891		chr17	TogoVar
CEP350_chr1_179949810_180119875	180004906	G G	GCTTGCTT others(13): Show GCTTGCTTGCTTGCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03669.hp1 NA19043.hp2 HG02258.hp1 HG03669.hp1 NA19043.hp2	a0002 a0005 a0002 a0005	a0002c0007 a0005c0005 a0002c0007 a0005c0005	a0002c0007t0002 a0005c0005t0002 a0002c0007t0002 a0005c0005t0002	a0002c0007t0002g0059 a0002c0007t0002g0061 a0005c0005t0002g0144 a0002c0007t0002g0059 a0002c0007t0002g0061 a0005c0005t0002g0144	3	248	0.0121	20	c.113 others(39): Show c.1133-1545_1133-1544insGCTTGCTTGCTTTCTTTCTT		CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37					INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004906	G G	GCTTGCTT others(13): Show GCTTGCTTGCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03486.hp1 HG02896.hp1 HG02897.hp1 HG03486.hp1	a0002 a0009 a0002 a0009	a0002c0007 a0009c0010 a0002c0007 a0009c0010	a0002c0007t0002 a0009c0010t0002 a0002c0007t0002 a0009c0010t0002	a0002c0007t0002g0243 a0009c0010t0002g0238 a0009c0010t0002g0240 a0002c0007t0002g0243 a0009c0010t0002g0238 a0009c0010t0002g0240	3	248	0.0121	20	c.113 others(39): Show c.1133-1545_1133-1544insGCTTGCTTTCTTTCTTTCTT		CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37					INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP41_chr7_130388771_130446016	130392347	G G	GACACACA others(13): Show GACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0081 a0001c0001t0046g0081	1	346	0.0029	20	c.65 others(31): Show c.6543_*6544insGTGTGTGTGTGTGTGTGTGT		CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding					1423		chr7	TogoVar
CEP43_chr6_166994397_167057718	167042814	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00673.hp2 others(85): Show HG00408.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18940.hp2 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18965.hp2 NA18966.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18995.hp2 NA19003.hp1 NA19005.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(42): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0039 a0001c0001t0040 a0001c0001t0046 a0001c0001t0051 a0001c0001t0057 a0001c0001t0068 a0001c0001t0071 a0001c0001t0072 a0001c0001t0112 a0001c0001t0127 a0001c0001t0140 a0001c0001t0141 a0001c0001t0145 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0190 a0001c0001t0191 a0001c0001t0192 a0001c0001t0193 a0001c0001t0206 a0001c0001t0207 a0001c0001t0210 a0001c0001t0214 a0002c0002t0035 a0002c0002t0091 a0004c0004t0039 a0005c0005t0088	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 others(83): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0218 a0001c0001t0002g0227 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0256 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0005g0041 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0005g0216 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0011g0008 a0001c0001t0011g0024 a0001c0001t0011g0029 a0001c0001t0011g0133 a0001c0001t0013g0001 a0001c0001t0013g0008 a0001c0001t0013g0102 a0001c0001t0013g0113 a0001c0001t0013g0138 a0001c0001t0017g0009 a0001c0001t0017g0215 a0001c0001t0017g0266 a0001c0001t0023g0019 a0001c0001t0023g0222 a0001c0001t0023g0268 a0001c0001t0025g0231 a0001c0001t0025g0244 a0001c0001t0025g0255 a0001c0001t0026g0158 a0001c0001t0026g0159 a0001c0001t0039g0063 a0001c0001t0040g0023 a0001c0001t0040g0098 a0001c0001t0046g0019 a0001c0001t0046g0278 a0001c0001t0051g0135 a0001c0001t0051g0150 a0001c0001t0057g0109 a0001c0001t0057g0110 a0001c0001t0068g0174 a0001c0001t0071g0193 a0001c0001t0072g0195 a0001c0001t0112g0099 a0001c0001t0127g0051 a0001c0001t0140g0081 a0001c0001t0141g0092 a0001c0001t0145g0094 a0001c0001t0160g0221 a0001c0001t0161g0233 a0001c0001t0162g0232 a0001c0001t0163g0019 a0001c0001t0164g0259 a0001c0001t0165g0251 a0001c0001t0166g0239 a0001c0001t0167g0261 a0001c0001t0168g0245 a0001c0001t0169g0276 a0001c0001t0170g0041 a0001c0001t0171g0220 a0001c0001t0190g0132 a0001c0001t0191g0114 a0001c0001t0192g0134 a0001c0001t0193g0008 a0001c0001t0206g0013 a0001c0001t0207g0112 a0001c0001t0210g0123 a0001c0001t0214g0001 a0002c0002t0035g0200 a0002c0002t0035g0209 a0002c0002t0091g0039 a0004c0004t0039g0091 a0005c0005t0088g0214	88	376	0.2340	20	c.28 others(31): Show c.2842_*2861dupGTGTGTGTGTGTGTGTGTGT		CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	13/13				2862	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109177637	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG03130.hp2 HG00423.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0050 a0001c0001t0001 a0001c0001t0050	a0001c0001t0001g0128 a0001c0001t0050g0182 a0001c0001t0001g0128 a0001c0001t0050g0182	2	228	0.0088	20	c.14 others(33): Show c.14667_*14668insATATATATATATATATATAT		CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding					3220		chr6	TogoVar
CEP63_chr3_134481057_134570031	134547614	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00558.hp2 others(25): Show HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00733.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02273.hp2 HG02523.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp2 NA18939.hp1 NA18949.hp2 NA18955.hp1 NA18962.hp1 NA18965.hp1 NA18968.hp2 NA18972.hp2 NA18981.hp1 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18995.hp1 NA19065.hp2 NA19082.hp2 NA19086.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0010 others(2): Show a0001c0001 a0001c0003 a0001c0010 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0003t0003 a0001c0010t0001 others(3): Show a0001c0001t0001 a0001c0003t0003 a0001c0010t0001 a0002c0002t0001 a0002c0002t0026 a0002c0005t0001	a0001c0001t0001g0288 a0001c0001t0001g0307 a0001c0003t0003g0203 others(23): Show a0001c0001t0001g0288 a0001c0001t0001g0307 a0001c0003t0003g0203 a0001c0010t0001g0290 a0002c0002t0001g0002 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0237 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0259 a0002c0002t0001g0267 a0002c0002t0001g0274 a0002c0002t0001g0276 a0002c0002t0001g0291 a0002c0002t0026g0304 a0002c0005t0001g0159	28	322	0.0870	20	c.106 others(37): Show c.1067+157_1067+158insTTTTTTTTTTTTTTTTTTTT		CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP68_chr2_65051416_65092004	65066745	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0005 a0013c0024t0005	a0013c0024t0005g0131 a0013c0024t0005g0131	1	360	0.0028	20	c.-46 others(37): Show c.-46-2653_-46-2652insAAAAAATATATATATATATA		CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CEP70_chr3_138489344_138599260	138499783	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02723.hp1 others(3): Show HG02257.hp2 HG02572.hp2 HG02723.hp1 HG03540.hp2 HG06807.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0194 a0002c0002t0001g0195 others(2): Show a0002c0002t0001g0019 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0211 a0002c0002t0001g0212	6	318	0.0189	20	c.165 others(37): Show c.1652+307_1652+326dupGTGTGTGTGTGTGTGTGTGT		CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	16/17						chr3	TogoVar
CEP76_chr18_12667625_12707723	12683186	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0057 a0006c0006t0001g0057	1	380	0.0026	20	c.112 others(39): Show c.1123-2359_1123-2358insTTTTTTTTTTTTTTTTTTTT		CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding	8/11						chr18	TogoVar
CEP83_chr12_94302698_94464867	94376690	T T	TATACACA others(13): Show TATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	364	0.0028	20	c.802 others(35): Show c.802-674_802-673insGTGTGTGTGTGTGTGTGTAT		CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	7/16						chr12	TogoVar
CEP85L_chr6_118455772_118656591	118496356	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00621.hp2 others(48): Show HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG02027.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02683.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03453.hp1 HG03486.hp2 HG03688.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18957.hp1 NA18964.hp2 NA18968.hp2 NA18973.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18989.hp1 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19012.hp2 NA19074.hp2 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0025 a0002c0002t0026 others(4): Show a0002c0002t0002 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0003c0003t0002	a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0178 others(48): Show a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0178 a0002c0002t0002g0187 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0200 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0241 a0002c0002t0002g0249 a0002c0002t0002g0260 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0280 a0002c0002t0002g0290 a0002c0002t0025g0282 a0002c0002t0026g0185 a0002c0002t0027g0186 a0002c0002t0028g0293 a0002c0002t0029g0210 a0003c0003t0002g0219 a0003c0003t0002g0232	51	302	0.1689	20	c.125 others(39): Show c.1258-4511_1258-4492dupTAAAATAAAATAAAATAAAA		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	5/12						chr6	TogoVar
CEP85L_chr6_118455772_118656591	118542900	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG04204.hp2 HG02559.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0028 a0002c0002t0002 a0002c0002t0028	a0002c0002t0002g0235 a0002c0002t0028g0293 a0002c0002t0002g0235 a0002c0002t0028g0293	2	302	0.0066	20	c.102 others(41): Show c.1021-19000_1021-18981dupTTTTTTTTTTTTTTTTTTTT		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12						chr6	TogoVar
CEP85L_chr6_118455772_118656591	118569341	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	302	0.0033	20	c.233 others(37): Show c.233-3045_233-3026dupTTTTTTTTTTTTTTTTTTTT		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12						chr6	TogoVar
CEP85L_chr6_118455772_118656591	118614849	T T	TAGACAGA others(13): Show TAGACAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0221 a0002c0002t0002g0221	1	302	0.0033	20	c.232 others(39): Show c.232+17603_232+17604insGTCTGTCTGTCTGTCTGTCT		CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12						chr6	TogoVar
CEP85_chr1_26229200_26283808	26231666	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0310 a0003c0003t0004g0317 a0003c0003t0004g0310 a0003c0003t0004g0317	2	342	0.0059	20	c.-26 others(31): Show c.-2667_-2666insTGTGTGTGTGTGTGTGTGTG		CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding					2533		chr1	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG04199.hp2 homoSapiens_chm13v2.hp1 HG01952.hp1 HG04199.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0141 a0001c0001t0003g0152 a0001c0001t0003g0126 a0001c0001t0003g0141 a0001c0001t0003g0152	3	342	0.0088	20	c.208 others(37): Show c.208+4407_208+4426dupTTTTTTTTTTTTTTTTTTTT		CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26256928	G G	GGGGTGTG others(13): Show GGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	342	0.0029	20	c.904 others(35): Show c.904-668_904-667insGGTGTGTGTGTGTGTGTGTG		CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26256928	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02818.hp1 HG03017.hp2 others(2): Show HG00323.hp2 HG02818.hp1 HG03017.hp2 NA18977.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0127 a0001c0001t0003g0129 others(2): Show a0001c0001t0003g0107 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0135 a0001c0001t0003g0161	5	342	0.0146	20	c.904 others(35): Show c.904-660_904-641dupGTGTGTGTGTGTGTGTGTGT		CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP89_chr19_32870925_32976958	32902004	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02135.hp2 NA18952.hp2 others(2): Show HG00673.hp2 HG02135.hp2 NA18952.hp2 NA19003.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0025 a0001c0002t0001g0043 a0001c0002t0001g0070 others(2): Show a0001c0002t0001g0025 a0001c0002t0001g0043 a0001c0002t0001g0070 a0001c0004t0001g0191 a0001c0004t0001g0192	5	386	0.0130	20	c.156 others(37): Show c.1566-593_1566-592insCACACACACACACACACACA		CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18						chr19	TogoVar
CEP89_chr19_32870925_32976958	32902010	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0005 a0000c0005t0005	a0000c0005t0005g0116 a0000c0005t0005g0116	1	386	0.0026	20	c.156 others(37): Show c.1566-618_1566-599dupCACACACACACACACACACA		CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18						chr19	TogoVar
CEP89_chr19_32870925_32976958	32923512	G G	GGACTCGC others(13): Show GGACTCGCATCCTAAACATTC	frameshift_variant frameshift_variant	HIGH	NA19058.hp2 NA19058.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0003 a0010c0020t0003	a0010c0020t0003g0122 a0010c0020t0003g0122	1	386	0.0026	20	c.117 others(29): Show c.1175_1194dupGAATGTTTAGGATGCGAGTC	p.Gln others(5): Show p.Gln399fs	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	12/19	1278/5673	1194/2352	398/783			chr19	TogoVar

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