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
CTIF_chr18_48534031_48868217	48624077	T T	TTTGACAC others(17): Show TTTGACACCACGCCCCTCCCCATGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG01884.hp1 others(18): Show HG00642.hp2 HG01243.hp1 HG01884.hp1 HG02080.hp1 HG02109.hp2 HG02257.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03453.hp1 HG03540.hp2 HG04115.hp2 NA18747.hp1 NA18906.hp2 NA18952.hp1 NA18972.hp1 NA19043.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0018 a0001c0001t0023 a0001c0001t0032 a0001c0001t0037 a0001c0001t0050 a0001c0001t0051 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0009t0041	a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0075 others(18): Show a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0002g0042 a0001c0001t0003g0049 a0001c0001t0004g0024 a0001c0001t0004g0026 a0001c0001t0008g0023 a0001c0001t0009g0037 a0001c0001t0014g0022 a0001c0001t0018g0065 a0001c0001t0023g0048 a0001c0001t0032g0033 a0001c0001t0037g0039 a0001c0001t0050g0124 a0001c0001t0051g0005 a0001c0002t0002g0038 a0001c0003t0001g0080 a0001c0003t0001g0121 a0001c0005t0001g0079 a0001c0009t0041g0131	21	144	0.1458	24	c.180 others(41): Show c.180+4343_180+4366dupGCCCCTCCCCATGCTTGACACCAC	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48699417	T T	TGGGGCTG others(17): Show TGGGGCTGGGGCTGGGGCTGGAGCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02965.hp1 others(2): Show HG02647.hp1 HG02723.hp1 HG02965.hp1 HG02970.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0023 a0001c0001t0037 others(1): Show a0001c0001t0004 a0001c0001t0023 a0001c0001t0037 a0001c0001t0044	a0001c0001t0004g0084 a0001c0001t0004g0134 a0001c0001t0023g0048 others(2): Show a0001c0001t0004g0084 a0001c0001t0004g0134 a0001c0001t0023g0048 a0001c0001t0037g0039 a0001c0001t0044g0144	5	144	0.0347	24	c.508 others(43): Show c.508-12198_508-12175dupGCTGGGGCTGGGGCTGGAGCCGGG	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA1_chr5_138748425_138940034	138852859	T T	TCGCGCGC others(17): Show TCGCGCGCGCACGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0030 a0001c0008t0003g0030	1	180	0.0056	24	c.106 others(45): Show c.1062+25150_1062+25151insACGCGCACACACACACGCGCGCGC	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138852859	T T	TCGCGCGC others(17): Show TCGCGCGCGCGCACGCGCACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp2 NA18522.hp2 others(1): Show HG01884.hp2 HG03225.hp2 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0004t0004 a0001c0001t0001 a0001c0001t0006 a0001c0004t0004	a0001c0001t0001g0139 a0001c0001t0006g0174 a0001c0001t0006g0175 others(1): Show a0001c0001t0001g0139 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0004t0004g0005	4	180	0.0222	24	c.106 others(45): Show c.1062+25152_1062+25153insACGCGCACACACACGCGCGCGCGC	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA2_chr2_79508051_80653780	79818821	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp1 HG03209.hp2 others(2): Show HG02257.hp1 HG02647.hp1 HG03209.hp2 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0003t0001g0005 others(2): Show a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0003t0001g0005 a0001c0003t0001g0013 a0001c0004t0001g0059	5	68	0.0735	24	c.299 others(43): Show c.299-39191_299-39190insTTATATATATATATATATATATAT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80569633	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG03927.hp1 HG00735.hp1 HG00735.hp2 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0037 a0001c0002t0001g0049 a0001c0002t0002g0015 a0001c0002t0001g0037 a0001c0002t0001g0049 a0001c0002t0002g0015	3	68	0.0441	24	c.174 others(43): Show c.1742-4526_1742-4503dupTTTTTTTTTTTTTTTTTTTTTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	65944886	A A	ATCTATCT others(17): Show ATCTATCTATCTATCTATCTATCTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0046 a0002c0002t0026g0046	1	46	0.0217	24	c.240 others(45): Show c.2400+21725_2400+21726insAAGATAGATAGATAGATAGATAGA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	17/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66154719	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02622.hp1 HG02622.hp2 others(6): Show HG01081.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0003t0008 a0001c0003t0022 a0001c0006t0001	a0001c0001t0001g0006 a0001c0001t0004g0043 a0001c0001t0006g0007 others(6): Show a0001c0001t0001g0006 a0001c0001t0004g0043 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0007g0020 a0001c0001t0009g0031 a0001c0003t0008g0002 a0001c0003t0022g0022 a0001c0006t0001g0001	9	46	0.1957	24	c.188 others(45): Show c.1885-51471_1885-51470insATATATATATATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66189600	T T	TTATATAT others(17): Show TTATATATATATATACATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0025 a0001c0003t0014g0025	1	46	0.0217	24	c.188 others(45): Show c.1885-86352_1885-86351insTATATATATGTATATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66189600	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG02895.hp2 others(4): Show HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0005c0010	a0001c0001t0006 a0001c0003t0022 a0001c0005t0010 others(1): Show a0001c0001t0006 a0001c0003t0022 a0001c0005t0010 a0005c0010t0002	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0027 others(4): Show a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0027 a0001c0003t0022g0022 a0001c0005t0010g0029 a0001c0005t0010g0034 a0005c0010t0002g0021	7	46	0.1522	24	c.188 others(45): Show c.1885-86352_1885-86351insTATATATATATATATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66328933	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18960.hp2 NA18964.hp1 HG02896.hp1 NA18960.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0002 a0001c0011 a0002c0002	a0001c0011t0009 a0002c0002t0003 a0002c0002t0017 a0001c0011t0009 a0002c0002t0003 a0002c0002t0017	a0001c0011t0009g0017 a0002c0002t0003g0042 a0002c0002t0017g0040 a0001c0011t0009g0017 a0002c0002t0003g0042 a0002c0002t0017g0040	3	46	0.0652	24	c.173 others(45): Show c.1733-48313_1733-48312insGTATATATATATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66421897	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG03540.hp1 others(1): Show HG02717.hp1 HG02818.hp2 HG03540.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0008 a0001c0001 a0001c0004 a0004c0008	a0001c0001t0006 a0001c0001t0012 a0001c0004t0007 others(1): Show a0001c0001t0006 a0001c0001t0012 a0001c0004t0007 a0004c0008t0005	a0001c0001t0006g0027 a0001c0001t0012g0038 a0001c0004t0007g0005 others(1): Show a0001c0001t0006g0027 a0001c0001t0012g0038 a0001c0004t0007g0005 a0004c0008t0005g0033	4	46	0.0870	24	c.153 others(45): Show c.1532-42546_1532-42545insATATATATATATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66508211	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0039 a0002c0002t0003g0039	1	46	0.0217	24	c.153 others(45): Show c.1531+12405_1531+12406insCAAAAAAAAAAAAAAAAAAAAAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66547343	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0036 a0003c0009t0003g0036	1	46	0.0217	24	c.137 others(45): Show c.1375-26571_1375-26570insAAAAAAAAAAAAAAAAAAAAAAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	10/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66712608	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02897.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0009 a0001c0003t0022 a0001c0005t0010 a0001c0001t0009 a0001c0003t0022 a0001c0005t0010	a0001c0001t0009g0031 a0001c0003t0022g0022 a0001c0005t0010g0029 a0001c0001t0009g0031 a0001c0003t0022g0022 a0001c0005t0010g0029	3	46	0.0652	24	c.128 others(45): Show c.1281+53655_1281+53656insTGTGTGTGTGTGTGTGTGTGTGTG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	9/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66845707	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp2 HG02145.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0027 a0001c0001t0008g0004 a0001c0001t0006g0027 a0001c0001t0008g0004	2	46	0.0435	24	c.104 others(45): Show c.1048-70184_1048-70183insATTTATTTATTTATTTATTTATTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67105235	T T	TGATAGAT others(17): Show TGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0021 a0005c0010t0002g0021	1	46	0.0217	24	c.104 others(45): Show c.1047+75058_1047+75081dupTATCTATCTATCTATCTATCTATC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67114709	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0031 a0001c0001t0009g0031	1	46	0.0217	24	c.104 others(45): Show c.1047+65584_1047+65607dupACACACACACACACACACACACAC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133328	T T	TATATATA others(17): Show TATATATATATATATATATTTATAC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0040 a0002c0002t0017g0040	1	46	0.0217	24	c.104 others(45): Show c.1047+46988_1047+46989insGTATAAATATATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566039	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0046 a0002c0002t0026g0046	1	46	0.0217	24	c.293 others(43): Show c.293-26371_293-26370insTATATATATATATATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566041	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp2 HG02622.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0023 a0001c0001t0007g0020 a0001c0001t0003g0023 a0001c0001t0007g0020	2	46	0.0435	24	c.293 others(43): Show c.293-26373_293-26372insTATATATATATATATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566043	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0044 a0001c0001t0024g0044	1	46	0.0217	24	c.293 others(43): Show c.293-26375_293-26374insTATATATATATATATATATATACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67620923	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0028 a0002c0002t0004g0028	1	46	0.0217	24	c.100 others(43): Show c.100-13875_100-13874insTATATATATATATATATATATACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	2/17			chr10	TogoVar
CTNND2_chr5_10966836_11909446	11250491	C C	CTCTATAT others(17): Show CTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	26	0.0385	24	c.162 others(45): Show c.1629-13669_1629-13668insTATATATATATATATATATATAGA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	9/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11376322	G G	GTGCGTGT others(17): Show GTGCGTGTGTGTGTGTTCATGTATC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG02647.hp1 others(11): Show HG00738.hp1 HG00738.hp2 HG02647.hp1 HG02647.hp2 HG02922.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA19068.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0002 a0001c0007t0001 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(11): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0005t0001g0020 a0001c0006t0002g0025 a0001c0007t0001g0002 a0001c0009t0001g0008 a0002c0008t0001g0014	14	26	0.5385	24	c.117 others(43): Show c.1177+8342_1177+8343insGATACATGAACACACACACACGCA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	7/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11376324	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTTCATGTATC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG03130.hp1 others(1): Show HG02258.hp2 HG02922.hp2 HG03130.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0003g0026 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0003g0026 a0001c0002t0001g0013	4	26	0.1539	24	c.117 others(43): Show c.1177+8340_1177+8341insGATACATGAACACACACACACACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	7/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11577394	A A	AGATGAAT others(17): Show AGATGAATAAACTTGATAATAGATT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	26	0.0385	24	c.175 others(43): Show c.175-12339_175-12338insAATCTATTATCAAGTTTATTCATC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3635193	T T	TGAAGGAA others(17): Show TGAAGGAAGGAAGAAAGGAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	372	0.0027	24	c.-18 others(35): Show c.-1868_-1867insGAAGGAAGGAAGAAAGGAAGAAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1566		chr17	TogoVar
CTNS_chr17_3631760_3668103	3635193	T T	TGAAGGAA others(17): Show TGAAGGAAGGAAGAAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG00741.hp2 others(2): Show HG00280.hp2 HG00741.hp1 HG00741.hp2 HG02559.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0002c0002t0055 a0001c0001t0002 a0002c0002t0004 a0002c0002t0055	a0001c0001t0002g0001 a0001c0001t0002g0075 a0001c0001t0002g0088 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0075 a0001c0001t0002g0088 a0002c0002t0004g0111 a0002c0002t0055g0290	5	372	0.0134	24	c.-18 others(35): Show c.-1868_-1867insGAAGGAAGGAAGAAAGGAAGGAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1566		chr17	TogoVar
CTNS_chr17_3631760_3668103	3641359	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01517.hp2 HG02922.hp2 HG01074.hp1 HG01517.hp2 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0008 a0001c0001t0001 a0003c0005t0008	a0001c0001t0001g0125 a0001c0001t0001g0128 a0003c0005t0008g0301 a0001c0001t0001g0125 a0001c0001t0001g0128 a0003c0005t0008g0301	3	372	0.0081	24	c.61+ others(39): Show c.61+1095_61+1118dupATATATATATATATATATATATAT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19080.hp2 NA18906.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0059 a0001c0001t0001 a0001c0004t0059	a0001c0001t0001g0163 a0001c0004t0059g0297 a0001c0001t0001g0163 a0001c0004t0059g0297	2	372	0.0054	24	c.61+ others(39): Show c.61+1118_61+1119insATATATATATATATATATATTTTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0119 a0001c0004t0018g0119	1	372	0.0027	24	c.61+ others(39): Show c.61+1118_61+1119insATATATATATATATTTTTTTTTTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS2_chrX_16582999_16717669	16661993	C C	CATATATA others(17): Show CATATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19086.hp1 NA18991.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0135 a0001c0002t0002g0124 a0001c0002t0002g0135	2	226	0.0089	24	c.129 others(43): Show c.1296+5520_1296+5521insATATATATATATATGTATATATAT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTSC_chr11_88288592_88342736	88291545	G G	GGAGAGAG others(17): Show GGAGAGAGAGAGATGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA20300.hp1 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0135 a0001c0001t0001g0136	2	434	0.0046	24	c.24 others(35): Show c.2460_*2461insTTCTTTCTTTCATCTCTCTCTCTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2046		chr11	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(17): Show TGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01071.hp1 others(9): Show HG00621.hp1 HG00735.hp1 HG01071.hp1 HG01099.hp1 HG01934.hp2 HG02723.hp2 HG02896.hp2 HG02970.hp2 HG03579.hp1 HG04199.hp1 NA18951.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0045 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0144 a0002c0002t0001g0027	12	434	0.0277	24	c.24 others(35): Show c.2413_*2436dupTTTCTTTCTTTCTTTCTTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTSC_chr11_88288592_88342736	88316475	C C	CTAAATAA others(17): Show CTAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	434	0.0023	24	c.319 others(41): Show c.319-3945_319-3922dupTTTATTTATTTATTTATTTATTTA	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	2/6			chr11	TogoVar
CTSC_chr11_88288592_88342736	88316501	A A	AAATAAAT others(17): Show AAATAAATAAATGAATGAATGAATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	434	0.0023	24	c.319 others(41): Show c.319-3948_319-3947insCATTCATTCATTCATTTATTTATT	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	2/6			chr11	TogoVar
CTSD_chr11_1747755_1768927	1754490	A A	AGAGGGAT others(17): Show AGAGGGATGTGGGGATGGAGGGATG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	386	0.0026	24	c.828 others(39): Show c.828-376_828-353dupCATCCCTCCATCCCCACATCCCTC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSD_chr11_1747755_1768927	1754525	G G	GGGATGGA others(17): Show GGGATGGAGGGGATGGAGGGATGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp2 HG03453.hp2 HG01891.hp2 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	3	386	0.0078	24	c.827 others(39): Show c.827+380_827+381insTCCATCCCTCCATCCCCTCCATCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSD_chr11_1747755_1768927	1754525	G G	GGGGATGT others(17): Show GGGGATGTGGGGATGGAGGGATGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(123): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19075.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0008 others(1): Show a0001c0001 a0001c0002 a0003c0008 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0002t0001 a0001c0002t0010 a0001c0002t0016 a0003c0008t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0185 a0001c0001t0002g0086 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0003g0074 a0001c0001t0005g0026 a0001c0001t0005g0117 a0001c0001t0006g0022 a0001c0001t0007g0096 a0001c0001t0008g0095 a0001c0001t0015g0191 a0001c0002t0001g0005 a0001c0002t0001g0169 a0001c0002t0010g0167 a0001c0002t0016g0192 a0003c0008t0001g0165 a0004c0007t0001g0061	126	386	0.3264	24	c.827 others(39): Show c.827+380_827+381insTCCATCCCTCCATCCCCACATCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSD_chr11_1747755_1768927	1765170	G G	GTATATAT others(17): Show GTATATATATACATGTATATGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG03130.hp2 HG03579.hp1 others(2): Show HG02486.hp2 HG03130.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0013 a0001c0001t0001g0119 a0001c0001t0001g0120	5	386	0.0130	24	c.-13 others(35): Show c.-1312_-1311insTACACATATACATGTATATATATA	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		1244		chr11	TogoVar
CTSE_chr1_206004264_206028895	206016511	T T	TTTTGCCT others(17): Show TTTTGCCTACCTTAAGGTCATGAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	302	0.0033	24	c.463 others(39): Show c.463-405_463-382dupTTTCATGACCTTAAGGTAGGCAAA	CTSE	ENSG00000196188.12	transcript	ENST00000358184.7	protein_coding	4/8			chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112391990	C C	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0296 a0001c0005t0008g0296	1	324	0.0031	24	c.-44 others(35): Show c.-4416_-4415insAATAAATAAATAAATAAATAAATA	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding		4223		chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112465445	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00609.hp1 others(14): Show HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp1 HG01070.hp1 HG01123.hp1 HG01358.hp2 HG02647.hp1 HG02965.hp2 HG04204.hp2 NA18940.hp1 NA18945.hp2 NA18962.hp1 NA18980.hp2 NA19240.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0004 a0001c0002t0002g0038 a0001c0002t0002g0041 others(14): Show a0001c0002t0002g0004 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0051 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0157 a0001c0002t0004g0047 a0001c0002t0004g0294	17	324	0.0525	24	c.80 others(35): Show c.8033_*8034insACACACACACACACACACACACAC	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding		4282		chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117871844	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02109.hp1 HG02109.hp2 others(8): Show HG01993.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02818.hp1 HG03491.hp1 HG03540.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0008 a0001c0001 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0011c0008t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0081 others(8): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0081 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0164 a0001c0001t0002g0048 a0001c0001t0005g0049 a0011c0008t0001g0113	11	164	0.0671	24	c.81+ others(39): Show c.81+1467_81+1490dupTGTGTGTGTGTGTGTGTGTGTGTG	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117871874	A A	ACACACAC others(17): Show ACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19003.hp2 HG03239.hp1 NA19003.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0014 a0001c0001 a0009c0014	a0001c0001t0001 a0009c0014t0001 a0001c0001t0001 a0009c0014t0001	a0001c0001t0001g0002 a0009c0014t0001g0084 a0001c0001t0001g0002 a0009c0014t0001g0084	2	164	0.0122	24	c.81+ others(39): Show c.81+1460_81+1461insGGTGTGTGTGTGTGTGTGTGTGTG	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTXND1_chr15_80190481_80257213	80204647	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0366 a0001c0002t0014g0366	1	396	0.0025	24	c.-21 others(41): Show c.-217-931_-217-908dupTATATATATATATATATATATATA	CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	1/2			chr15	TogoVar
CUBN_chr10_16818966_17134811	16889938	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0042 a0042	a0042c0130 a0042c0130	a0042c0130t0001 a0042c0130t0001	a0042c0130t0001g0121 a0042c0130t0001g0121	1	192	0.0052	24	c.875 others(41): Show c.8755+432_8755+433insGTTTTTTTTTTTTTTTTTTTTTTT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	55/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	16889938	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG02258.hp2 others(7): Show HG00642.hp2 HG01243.hp2 HG02258.hp2 HG02723.hp1 HG02922.hp1 HG02922.hp2 HG03471.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp2	a0004 a0034 a0039 others(6): Show a0004 a0034 a0039 a0040 a0071 a0081 a0099 a0110 a0112	a0004c0050 a0004c0066 a0034c0128 others(7): Show a0004c0050 a0004c0066 a0034c0128 a0039c0133 a0040c0132 a0071c0104 a0081c0051 a0099c0022 a0110c0155 a0112c0154	a0004c0050t0001 a0004c0066t0001 a0034c0128t0002 others(7): Show a0004c0050t0001 a0004c0066t0001 a0034c0128t0002 a0039c0133t0001 a0040c0132t0002 a0071c0104t0001 a0081c0051t0001 a0099c0022t0001 a0110c0155t0014 a0112c0154t0001	a0004c0050t0001g0008 a0004c0066t0001g0178 a0034c0128t0002g0175 others(7): Show a0004c0050t0001g0008 a0004c0066t0001g0178 a0034c0128t0002g0175 a0039c0133t0001g0156 a0040c0132t0002g0014 a0071c0104t0001g0162 a0081c0051t0001g0182 a0099c0022t0001g0048 a0110c0155t0014g0187 a0112c0154t0001g0184	10	192	0.0521	24	c.875 others(41): Show c.8755+432_8755+433insGTTTGTTTTTTTTTTTTTTTTTTT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	55/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	16889942	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp2 HG02622.hp2 HG03098.hp2	a0011 a0020 a0011 a0020	a0011c0070 a0020c0078 a0011c0070 a0020c0078	a0011c0070t0001 a0020c0078t0002 a0011c0070t0001 a0020c0078t0002	a0011c0070t0001g0143 a0020c0078t0002g0027 a0011c0070t0001g0143 a0020c0078t0002g0027	2	192	0.0104	24	c.875 others(41): Show c.8755+428_8755+429insGTTTGTTTGTTTTTTTTTTTTTTT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	55/66			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)