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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CEP112_chr17_65630537_66197133	65649073	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA20129.hp1 HG01258.hp2 NA20129.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0025 a0002c0001t0001g0079 a0002c0001t0001g0025 a0002c0001t0001g0079	2	112	0.0179	-12	c.269 others(31): Show c.2698-8020_2698-8009delGTGTGTGTGTGT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65660460	CTCCTTCC others(5): Show CTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01517.hp1 HG02257.hp2 others(7): Show HG01109.hp1 HG01517.hp1 HG02257.hp2 HG02717.hp1 HG03041.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp1 NA18986.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0001t0001	a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0072 others(7): Show a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0072 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0089 a0001c0003t0001g0007 a0002c0001t0001g0018 a0002c0001t0001g0044 a0002c0001t0001g0101	10	112	0.0893	-12	c.269 others(33): Show c.2698-19407_2698-19396delAGGAAGGAAGGA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65679129	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0107 a0001c0003t0001g0107	1	112	0.0089	-12	c.269 others(31): Show c.2697+9988_2697+9999delAAAAAAAAAAAA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65729911	TCAAACAA others(5): Show TCAAACAAACAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02486.hp1 others(6): Show HG02145.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02976.hp1 HG03041.hp2 HG03579.hp2 HG04115.hp1 NA18522.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0007 a0004c0006 a0005c0009	a0001c0002t0001 a0001c0003t0007 a0002c0001t0001 others(4): Show a0001c0002t0001 a0001c0003t0007 a0002c0001t0001 a0002c0001t0003 a0002c0007t0001 a0004c0006t0001 a0005c0009t0005	a0001c0002t0001g0073 a0001c0003t0007g0004 a0002c0001t0001g0027 others(6): Show a0001c0002t0001g0073 a0001c0003t0007g0004 a0002c0001t0001g0027 a0002c0001t0001g0064 a0002c0001t0001g0068 a0002c0001t0003g0019 a0002c0007t0001g0108 a0004c0006t0001g0022 a0005c0009t0005g0002	9	112	0.0804	-12	c.260 others(33): Show c.2607+13145_2607+13156delTTTGTTTGTTTG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	23/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65751952	TTCTATCT others(5): Show TTCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01243.hp1 others(6): Show HG00741.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01346.hp2 HG02602.hp2 HG02622.hp2 NA19056.hp1 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0006c0010	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0006c0010t0001	a0001c0002t0001g0014 a0001c0002t0001g0021 a0001c0002t0001g0056 others(6): Show a0001c0002t0001g0014 a0001c0002t0001g0021 a0001c0002t0001g0056 a0001c0003t0001g0006 a0001c0003t0001g0105 a0002c0001t0001g0039 a0002c0001t0001g0043 a0002c0001t0001g0052 a0006c0010t0001g0010	9	112	0.0804	-12	c.239 others(31): Show c.2395-1240_2395-1229delTAGATAGATAGA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65755306	AGGTAATA others(5): Show AGGTAATACACAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG03195.hp1 others(1): Show HG01891.hp1 HG02622.hp2 HG03195.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0021 a0001c0002t0001g0035 a0002c0001t0001g0013 others(1): Show a0001c0002t0001g0021 a0001c0002t0001g0035 a0002c0001t0001g0013 a0002c0001t0001g0045	4	112	0.0357	-12	c.239 others(31): Show c.2395-4594_2395-4583delGTGTGTATTACC	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65772607	CACACACA others(5): Show CACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG03688.hp1 others(1): Show HG01109.hp2 HG01243.hp1 HG03688.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006	a0001c0002t0001g0060 a0001c0003t0001g0009 a0001c0003t0001g0105 others(1): Show a0001c0002t0001g0060 a0001c0003t0001g0009 a0001c0003t0001g0105 a0001c0003t0006g0003	4	112	0.0357	-12	c.239 others(33): Show c.2395-21895_2395-21884delCTGTGTGTGTGT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65791241	AATGGGCT others(5): Show AATGGGCTATAGC	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02280.hp2 HG02451.hp1 others(1): Show HG01346.hp2 HG02280.hp2 HG02451.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0004 a0001c0003 a0002c0001 a0002c0004	a0001c0003t0001 a0002c0001t0003 a0002c0004t0001 a0001c0003t0001 a0002c0001t0003 a0002c0004t0001	a0001c0003t0001g0006 a0002c0001t0003g0008 a0002c0001t0003g0019 others(1): Show a0001c0003t0001g0006 a0002c0001t0003g0008 a0002c0001t0003g0019 a0002c0004t0001g0029	4	112	0.0357	-12	c.239 others(33): Show c.2395-40529_2395-40518delGCTATAGCCCAT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65821534	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0032 a0002c0001t0001g0032	1	112	0.0089	-12	c.239 others(33): Show c.2394+30258_2394+30269delAAAAAATATATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65841899	TACACACA others(5): Show TACACACATACAC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0097 a0002c0001t0001g0097	1	112	0.0089	-12	c.239 others(31): Show c.2394+9893_2394+9904delGTGTATGTGTGT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65864913	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02572.hp2 others(2): Show HG01891.hp2 HG02145.hp2 HG02572.hp2 HG02723.hp2 NA18986.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0001 a0004c0006 a0001c0003 a0002c0001 a0004c0006	a0001c0003t0001 a0002c0001t0001 a0004c0006t0002 a0001c0003t0001 a0002c0001t0001 a0004c0006t0002	a0001c0003t0001g0005 a0002c0001t0001g0015 a0002c0001t0001g0024 others(2): Show a0001c0003t0001g0005 a0002c0001t0001g0015 a0002c0001t0001g0024 a0002c0001t0001g0064 a0004c0006t0002g0110	5	112	0.0446	-12	c.216 others(33): Show c.2164-12891_2164-12880delACACACACACAC	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65870014	TAAGAAAG others(5): Show TAAGAAAGAAAGA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01123.hp2 others(3): Show HG01081.hp1 HG01109.hp1 HG01123.hp2 HG02257.hp2 HG02280.hp2 NA18522.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0005c0009	a0001c0002t0001 a0001c0003t0001 a0002c0001t0003 others(1): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0003 a0005c0009t0005	a0001c0002t0001g0056 a0001c0002t0001g0087 a0001c0002t0001g0088 others(3): Show a0001c0002t0001g0056 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0003t0001g0007 a0002c0001t0003g0008 a0005c0009t0005g0002	6	112	0.0536	-12	c.216 others(33): Show c.2164-17992_2164-17981delTCTTTCTTTCTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65916250	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19240.hp2 HG01109.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0009 a0001c0003t0006g0003 a0001c0003t0001g0009 a0001c0003t0006g0003	2	112	0.0179	-12	c.198 others(33): Show c.1980+11320_1980+11331delACACACACACAC	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65920362	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	112	0.0089	-12	c.198 others(31): Show c.1980+7208_1980+7219delATATATATATAT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65987660	TTATCACC others(5): Show TTATCACCAGCAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG02027.hp2 others(10): Show HG01109.hp2 HG01346.hp2 HG02027.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp2 NA18985.hp2 NA19240.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0003 a0004c0006 a0006c0010 a0001c0003 a0004c0006 a0006c0010	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0004c0006t0001 a0004c0006t0002 a0006c0010t0001	a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0009 others(10): Show a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0009 a0001c0003t0001g0033 a0001c0003t0001g0062 a0001c0003t0001g0074 a0001c0003t0002g0109 a0001c0003t0002g0112 a0001c0003t0006g0003 a0001c0003t0007g0004 a0004c0006t0001g0022 a0004c0006t0002g0110 a0006c0010t0001g0010	13	112	0.1161	-12	c.173 others(33): Show c.1736+18018_1736+18029delTTGCTGGTGATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65996129	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp2 HG02257.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0007 a0001c0003t0001 a0001c0003t0007	a0001c0003t0001g0007 a0001c0003t0007g0004 a0001c0003t0001g0007 a0001c0003t0007g0004	2	112	0.0179	-12	c.173 others(31): Show c.1736+9549_1736+9560delACACACACACAC	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66009189	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	112	0.0089	-12	c.165 others(31): Show c.1657-3432_1657-3421delCACACACACACA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	16/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66038392	CTACACAC others(5): Show CTACACACAATTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG02027.hp2 others(9): Show HG01109.hp2 HG01346.hp2 HG02027.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG03688.hp2 HG03831.hp2 HG06807.hp2 NA18985.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0006 a0001c0003 a0004c0006	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0004c0006t0002	a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0033 others(9): Show a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0062 a0001c0003t0001g0074 a0001c0003t0001g0082 a0001c0003t0001g0107 a0001c0003t0002g0109 a0001c0003t0002g0112 a0001c0003t0006g0003 a0004c0006t0002g0110	12	112	0.1071	-12	c.121 others(31): Show c.1219-8381_1219-8370delAAATTGTGTGTA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66049224	ATATGCGT others(5): Show ATATGCGTAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00642.hp2 others(38): Show HG00280.hp1 HG00438.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01517.hp1 HG02027.hp1 HG02055.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18983.hp2 NA18986.hp2 NA19002.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(38): Show a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0103 a0003c0005t0001g0048 a0003c0005t0001g0055	41	112	0.3661	-12	c.121 others(31): Show c.1218+4500_1218+4511delCTCTTACGCATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	12/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66067016	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01081.hp1 others(10): Show HG00280.hp1 HG00735.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01517.hp1 HG02486.hp1 HG02723.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03704.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0002c0007 others(1): Show a0001c0002 a0002c0001 a0002c0007 a0004c0006	a0001c0002t0001 a0002c0001t0001 a0002c0007t0001 others(1): Show a0001c0002t0001 a0002c0001t0001 a0002c0007t0001 a0004c0006t0001	a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0056 others(10): Show a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0092 a0001c0002t0001g0093 a0002c0001t0001g0023 a0002c0001t0001g0024 a0002c0007t0001g0108 a0004c0006t0001g0022	13	112	0.1161	-12	c.856 others(27): Show c.856-151_856-140delGTGTGTGTGTGT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	9/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66149876	TTTTGTTT others(5): Show TTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01891.hp2 HG02451.hp2 others(3): Show HG01123.hp2 HG01891.hp2 HG02451.hp2 HG02559.hp1 HG04115.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0001c0002t0001 a0001c0003t0001 a0002c0001t0001	a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0093 others(3): Show a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0093 a0001c0003t0001g0005 a0002c0001t0001g0027 a0002c0001t0001g0028	6	112	0.0536	-12	c.471 others(31): Show c.471-17125_471-17114delCAAACAAACAAA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	4/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66164882	ATATATGT others(5): Show ATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0094 a0002c0001t0001g0094	1	112	0.0089	-12	c.470 others(31): Show c.470+10150_470+10161delCACACACATATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	4/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66164886	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02145.hp1 HG02280.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0002 a0002c0001t0002 a0001c0003t0002 a0002c0001t0002	a0001c0003t0002g0112 a0002c0001t0002g0111 a0001c0003t0002g0112 a0002c0001t0002g0111	2	112	0.0179	-12	c.470 others(31): Show c.470+10146_470+10157delCACACACACACA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	4/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66188275	CCACACAC others(5): Show CCACACACACAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG00741.hp2 others(8): Show HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01258.hp2 HG01884.hp1 HG02683.hp2 HG02723.hp1 HG03139.hp1 HG03225.hp1 HG03688.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0008	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0008t0001	a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0003t0001g0033 others(8): Show a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0003t0001g0033 a0002c0001t0001g0025 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0008t0001g0030	11	112	0.0982	-12	c.-9+ others(27): Show c.-9+3710_-9+3721delTTTGTGTGTGTG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	1/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101917028	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03471.hp1 NA18980.hp2 HG02602.hp1 HG03471.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0055 a0001c0001t0001 a0001c0002t0001 a0001c0009t0055	a0001c0001t0001g0037 a0001c0002t0001g0148 a0001c0009t0055g0304 a0001c0001t0001g0037 a0001c0002t0001g0148 a0001c0009t0055g0304	3	336	0.0089	-12	c.128 others(29): Show c.128+1653_128+1664delTGTGTGTGTGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	102003679	CTAAATAA others(5): Show CTAAATAAATAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG01891.hp2 others(5): Show HG00323.hp2 HG01243.hp2 HG01891.hp2 HG01978.hp1 HG02723.hp1 HG02922.hp1 HG02976.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0015 a0001c0002t0001 a0001c0001t0008 a0001c0001t0015 a0001c0002t0001	a0001c0001t0008g0003 a0001c0001t0008g0030 a0001c0001t0008g0031 others(4): Show a0001c0001t0008g0003 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0034 a0001c0001t0008g0036 a0001c0001t0015g0035 a0001c0002t0001g0148	8	336	0.0238	-12	c.60 others(23): Show c.6037_*6048delTAAATAAATAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		2618		chr11	TogoVar
CEP126_chr11_101910010_102006062	102004895	CATATATA others(5): Show CATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01891.hp2 HG01978.hp1 HG00323.hp2 HG01891.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0034 a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0034	3	336	0.0089	-12	c.72 others(23): Show c.7253_*7264delATATATATATAT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3834		chr11	TogoVar
CEP128_chr14_80491479_80946738	80615848	CAAATAAA others(5): Show CAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp2 HG01515.hp2 others(10): Show HG01081.hp1 HG01261.hp2 HG01515.hp2 HG01891.hp2 HG02615.hp1 HG02647.hp1 HG02922.hp2 HG03130.hp1 HG03516.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0002c0006 a0005c0005 others(2): Show a0001c0001 a0002c0006 a0005c0005 a0006c0007 a0007c0010	a0001c0001t0001 a0001c0001t0005 a0002c0006t0003 others(3): Show a0001c0001t0001 a0001c0001t0005 a0002c0006t0003 a0005c0005t0001 a0006c0007t0004 a0007c0010t0005	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0005g0004 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0005g0004 a0001c0001t0005g0006 a0001c0001t0005g0014 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0061 a0002c0006t0003g0096 a0002c0006t0003g0097 a0005c0005t0001g0008 a0006c0007t0004g0148 a0007c0010t0005g0056	13	164	0.0793	-12	c.280 others(33): Show c.2807-35437_2807-35426delATTTATTTATTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80624776	TTCTGTTG others(5): Show TTCTGTTGAGTTG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0120 a0003c0003t0002g0120	1	164	0.0061	-12	c.280 others(33): Show c.2807-44365_2807-44354delCAACTCAACAGA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80647037	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp2 HG03516.hp1 others(3): Show HG02145.hp2 HG02886.hp2 HG03516.hp1 NA18906.hp2 NA19009.hp2 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0015 a0001c0022 others(1): Show a0001c0001 a0001c0015 a0001c0022 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0015t0001 a0001c0022t0005 a0010c0017t0001	a0001c0001t0001g0033 a0001c0001t0002g0157 a0001c0001t0005g0059 others(3): Show a0001c0001t0001g0033 a0001c0001t0002g0157 a0001c0001t0005g0059 a0001c0015t0001g0048 a0001c0022t0005g0015 a0010c0017t0001g0007	6	164	0.0366	-12	c.280 others(33): Show c.2807-66626_2807-66615delTATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656275	TTATTTAT others(5): Show TTATTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01433.hp1 HG02132.hp2 others(3): Show HG01123.hp1 HG01433.hp1 HG02132.hp2 HG02572.hp1 HG02615.hp2 HG02886.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0015 a0003c0003 others(1): Show a0001c0001 a0001c0015 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0015t0001 a0003c0003t0002 a0004c0004t0003	a0001c0001t0001g0037 a0001c0001t0002g0133 a0001c0001t0004g0094 others(3): Show a0001c0001t0001g0037 a0001c0001t0002g0133 a0001c0001t0004g0094 a0001c0015t0001g0048 a0003c0003t0002g0127 a0004c0004t0003g0140	6	164	0.0366	-12	c.280 others(33): Show c.2807-75864_2807-75853delTATATATAAATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656291	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0111 a0001c0001t0006g0111	1	164	0.0061	-12	c.280 others(33): Show c.2807-75880_2807-75869delTATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729056	GGGGTGTG others(5): Show GGGGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0138 a0002c0002t0004g0138	1	164	0.0061	-12	c.280 others(33): Show c.2806+14007_2806+14018delACACACACACCC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80732471	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0070 a0002c0002t0004g0070	1	164	0.0061	-12	c.280 others(33): Show c.2806+10592_2806+10603delACACACACACAC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80733339	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02976.hp2 HG01175.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0014t0003 a0001c0001t0002 a0001c0014t0003	a0001c0001t0002g0112 a0001c0014t0003g0151 a0001c0001t0002g0112 a0001c0014t0003g0151	2	164	0.0122	-12	c.280 others(31): Show c.2806+9724_2806+9735delACACACACACAC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80740494	CTAGATAG others(5): Show CTAGATAGATAGA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02083.hp2 HG02572.hp1 others(2): Show HG01081.hp1 HG02083.hp2 HG02572.hp1 NA19240.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0003 a0001c0001 a0001c0009 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0009t0006 a0003c0003t0006	a0001c0001t0001g0003 a0001c0001t0004g0094 a0001c0001t0005g0004 others(2): Show a0001c0001t0001g0003 a0001c0001t0004g0094 a0001c0001t0005g0004 a0001c0009t0006g0153 a0003c0003t0006g0117	5	164	0.0305	-12	c.280 others(31): Show c.2806+2569_2806+2580delTCTATCTATCTA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80740539	TAGATAGA others(5): Show TAGATAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19007.hp2 HG02132.hp1 NA19007.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0021 a0002c0002 a0013c0021	a0002c0002t0003 a0013c0021t0007 a0002c0002t0003 a0013c0021t0007	a0002c0002t0003g0078 a0013c0021t0007g0088 a0002c0002t0003g0078 a0013c0021t0007g0088	2	164	0.0122	-12	c.280 others(31): Show c.2806+2524_2806+2535delGTCTGTCTATCT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80880865	AAATAATA others(5): Show AAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02647.hp2 others(6): Show HG01109.hp1 HG02109.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG03139.hp2 NA19043.hp1 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0012	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0012c0020	a0001c0001t0004 a0001c0009t0006 a0002c0002t0006 others(2): Show a0001c0001t0004 a0001c0009t0006 a0002c0002t0006 a0004c0004t0003 a0012c0020t0004	a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 others(6): Show a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0009t0006g0153 a0001c0009t0006g0154 a0002c0002t0006g0158 a0004c0004t0003g0063 a0012c0020t0004g0163	9	164	0.0549	-12	c.645 others(31): Show c.645+14841_645+14852delATTATTATTATT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	8/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80935556	CAATAAAT others(5): Show CAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00735.hp2 others(36): Show HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01081.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01433.hp2 HG02004.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02165.hp1 HG02523.hp1 HG02602.hp1 HG03195.hp2 HG03669.hp1 HG06807.hp1 NA18522.hp2 NA18942.hp2 NA18947.hp2 NA18952.hp2 NA18960.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18995.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19060.hp2 NA19072.hp2 NA19079.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0008 a0009 a0010	a0001c0001 a0001c0019 a0003c0003 others(4): Show a0001c0001 a0001c0019 a0003c0003 a0004c0004 a0008c0011 a0009c0016 a0010c0017	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0019t0002 a0003c0003t0002 a0003c0003t0006 a0004c0004t0012 a0008c0011t0002 a0009c0016t0006 a0010c0017t0001	a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 others(36): Show a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0004g0137 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0114 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0019t0002g0123 a0003c0003t0002g0098 a0003c0003t0002g0120 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0127 a0003c0003t0002g0164 a0003c0003t0006g0116 a0003c0003t0006g0117 a0004c0004t0012g0103 a0008c0011t0002g0109 a0008c0011t0002g0121 a0009c0016t0006g0105 a0010c0017t0001g0007	39	164	0.2378	-12	c.-16 others(29): Show c.-16+3817_-16+3828delTATTTATTTATT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	2/24			chr14	TogoVar
CEP162_chr6_84119250_84232643	84154312	ATATCTAT others(5): Show ATATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01257.hp2 others(12): Show HG01074.hp2 HG01243.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01928.hp2 HG02148.hp1 HG02293.hp2 HG02300.hp2 HG02735.hp1 HG02886.hp1 HG03492.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0003 a0003c0021 others(1): Show a0001c0001 a0003c0003 a0003c0021 a0011c0018	a0001c0001t0003 a0003c0003t0003 a0003c0021t0003 others(1): Show a0001c0001t0003 a0003c0003t0003 a0003c0021t0003 a0011c0018t0003	a0001c0001t0003g0065 a0001c0001t0003g0112 a0003c0003t0003g0040 others(12): Show a0001c0001t0003g0065 a0001c0001t0003g0112 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0090 a0003c0003t0003g0091 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0021t0003g0049 a0011c0018t0003g0039	15	214	0.0701	-12	c.299 others(29): Show c.2994+974_2994+985delGATAGATAGATA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	22/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84154367	TCTATCTA others(5): Show TCTATCTATCTAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0113 a0006c0013t0002g0113	1	214	0.0047	-12	c.299 others(29): Show c.2994+919_2994+930delGTAGATAGATAG	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	22/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84159539	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	214	0.0047	-12	c.278 others(31): Show c.2781+1261_2781+1272delAAAATATATATA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84159545	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG02451.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	214	0.0094	-12	c.278 others(31): Show c.2781+1255_2781+1266delAAAAAAAAAATA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84159547	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp2 NA19087.hp1 HG00280.hp2 HG01261.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0153 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0153	3	214	0.0140	-12	c.278 others(31): Show c.2781+1253_2781+1264delAAAAAAAAAAAA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84202518	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03704.hp1 HG04204.hp1 HG02280.hp2 HG03704.hp1 HG04204.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0006c0013t0002 a0001c0001t0001 a0006c0013t0002	a0001c0001t0001g0072 a0001c0001t0001g0179 a0006c0013t0002g0113 a0001c0001t0001g0072 a0001c0001t0001g0179 a0006c0013t0002g0113	3	214	0.0140	-12	c.688 others(27): Show c.688-763_688-752delAAAAAAAAAAAA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	7/26			chr6	TogoVar
CEP164_chr11_117322854_117418266	117357356	GCCTTGGC others(5): Show GCCTTGGCCTCCC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03704.hp2 HG03710.hp1 others(3): Show HG00597.hp2 HG03704.hp2 HG03710.hp1 NA18956.hp1 NA18978.hp2 NA19054.hp2	a0006 a0010 a0006 a0010	a0006c0007 a0010c0012 a0006c0007 a0010c0012	a0006c0007t0006 a0010c0012t0006 a0006c0007t0006 a0010c0012t0006	a0006c0007t0006g0265 a0006c0007t0006g0267 a0006c0007t0006g0270 others(3): Show a0006c0007t0006g0265 a0006c0007t0006g0267 a0006c0007t0006g0270 a0006c0007t0006g0271 a0010c0012t0006g0266 a0010c0012t0006g0268	6	390	0.0154	-12	c.394 others(29): Show c.394-4477_394-4466delCTTGGCCTCCCC	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP164_chr11_117322854_117418266	117363759	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02451.hp2 others(2): Show HG02055.hp1 HG02109.hp2 HG02451.hp2 HG02976.hp2 HG03098.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0007	a0005c0006t0007g0048 a0005c0006t0007g0049 a0005c0006t0007g0075 others(2): Show a0005c0006t0007g0048 a0005c0006t0007g0049 a0005c0006t0007g0075 a0005c0006t0007g0076 a0005c0006t0007g0077	5	390	0.0128	-12	c.765 others(27): Show c.765+270_765+281delTTTTTTTTTTTT	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP170B_chr14_104860268_104901747	104864954	AGGCGAAG others(5): Show AGGCGAAGCGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG02135.hp1 others(8): Show HG00438.hp2 HG00544.hp2 HG02135.hp1 HG02165.hp1 NA18943.hp1 NA18955.hp2 NA18998.hp2 NA19000.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp1	a0001 a0009 a0027 a0001 a0009 a0027	a0001c0001 a0001c0011 a0001c0041 others(2): Show a0001c0001 a0001c0011 a0001c0041 a0009c0024 a0027c0050	a0001c0001t0001 a0001c0011t0001 a0001c0041t0001 others(2): Show a0001c0001t0001 a0001c0011t0001 a0001c0041t0001 a0009c0024t0001 a0027c0050t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0149 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0149 a0001c0011t0001g0072 a0001c0011t0001g0073 a0001c0041t0001g0153 a0009c0024t0001g0096 a0009c0024t0001g0098 a0027c0050t0001g0071	11	328	0.0335	-12	c.-58 others(21): Show c.-586_-575delGGCGAAGCGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding		313		chr14	TogoVar
CEP170B_chr14_104860268_104901747	104872349	CGTGTGTG others(5): Show CGTGTGTGTGCCG	C C	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18982.hp2 NA18963.hp2 NA18982.hp2	a0001 a0001	a0001c0034 a0001c0037 a0001c0034 a0001c0037	a0001c0034t0004 a0001c0037t0005 a0001c0034t0004 a0001c0037t0005	a0001c0034t0004g0156 a0001c0037t0005g0157 a0001c0034t0004g0156 a0001c0037t0005g0157	2	328	0.0061	-12	c.105 others(29): Show c.105+3795_105+3806delGTGTGTGTGCCG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	2/18			chr14	TogoVar
CEP170B_chr14_104860268_104901747	104889903	CAAATGGA others(5): Show CAAATGGATGGAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(94): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18940.hp2 NA18948.hp2 NA18975.hp2 NA19002.hp2 NA19043.hp1 NA19074.hp2 NA19083.hp1 NA19089.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0013 a0020	a0001c0002 a0001c0003 a0001c0010 others(17): Show a0001c0002 a0001c0003 a0001c0010 a0001c0013 a0001c0073 a0001c0082 a0001c0083 a0001c0087 a0001c0088 a0002c0004 a0002c0009 a0002c0012 a0002c0028 a0002c0029 a0002c0060 a0002c0064 a0006c0030 a0008c0063 a0013c0089 a0020c0084	a0001c0002t0002 a0001c0003t0002 a0001c0003t0020 others(19): Show a0001c0002t0002 a0001c0003t0002 a0001c0003t0020 a0001c0003t0021 a0001c0010t0002 a0001c0013t0002 a0001c0073t0002 a0001c0082t0002 a0001c0083t0002 a0001c0087t0002 a0001c0088t0002 a0002c0004t0002 a0002c0009t0002 a0002c0012t0002 a0002c0028t0002 a0002c0029t0002 a0002c0060t0002 a0002c0064t0002 a0006c0030t0002 a0008c0063t0002 a0013c0089t0002 a0020c0084t0002	a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0027 others(76): Show a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0027 a0001c0002t0002g0180 a0001c0002t0002g0182 a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0202 a0001c0002t0002g0205 a0001c0002t0002g0219 a0001c0002t0002g0224 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0003t0002g0005 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0193 a0001c0003t0002g0198 a0001c0003t0002g0201 a0001c0003t0002g0204 a0001c0003t0002g0221 a0001c0003t0002g0222 a0001c0003t0002g0225 a0001c0003t0002g0232 a0001c0003t0002g0235 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0020g0244 a0001c0003t0021g0199 a0001c0010t0002g0003 a0001c0010t0002g0050 a0001c0010t0002g0051 a0001c0010t0002g0052 a0001c0010t0002g0053 a0001c0013t0002g0003 a0001c0013t0002g0037 a0001c0073t0002g0162 a0001c0082t0002g0200 a0001c0083t0002g0226 a0001c0087t0002g0209 a0001c0088t0002g0237 a0002c0004t0002g0007 a0002c0004t0002g0028 a0002c0004t0002g0030 a0002c0004t0002g0179 a0002c0004t0002g0181 a0002c0004t0002g0208 a0002c0004t0002g0212 a0002c0004t0002g0216 a0002c0004t0002g0217 a0002c0004t0002g0227 a0002c0009t0002g0006 a0002c0009t0002g0185 a0002c0009t0002g0207 a0002c0009t0002g0215 a0002c0012t0002g0029 a0002c0012t0002g0211 a0002c0012t0002g0228 a0002c0028t0002g0206 a0002c0028t0002g0218 a0002c0029t0002g0031 a0002c0060t0002g0186 a0002c0064t0002g0171 a0006c0030t0002g0184 a0006c0030t0002g0210 a0008c0063t0002g0169 a0013c0089t0002g0006 a0020c0084t0002g0236	97	328	0.2957	-12	c.387 others(29): Show c.3878+146_3878+157delAAATGGATGGAT	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18			chr14	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)