Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LOXL2_chr8_23291897_23409120	23328709	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02896.hp1 others(3): Show HG02109.hp1 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0013 others(1): Show a0001c0002 a0001c0003 a0001c0013 a0001c0018	a0001c0002t0001 a0001c0003t0001 a0001c0013t0002 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0013t0002 a0001c0018t0001	a0001c0002t0001g0248 a0001c0003t0001g0019 a0001c0003t0001g0020 others(3): Show a0001c0002t0001g0248 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0013t0002g0082 a0001c0018t0001g0109 a0001c0018t0001g0139	6	348	0.0172	24	c.967 others(39): Show c.967-168_967-145dupCACACACACACACACACACACACA	LOXL2	ENSG00000134013.16	transcript	ENST00000389131.8	protein_coding	5/13			chr8	TogoVar
LOXL2_chr8_23291897_23409120	23354588	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02258.hp2 HG03453.hp2 HG02083.hp1 HG02258.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0053 a0002c0010 a0001c0001 a0001c0053 a0002c0010	a0001c0001t0002 a0001c0053t0004 a0002c0010t0001 a0001c0001t0002 a0001c0053t0004 a0002c0010t0001	a0001c0001t0002g0335 a0001c0053t0004g0100 a0002c0010t0001g0332 a0001c0001t0002g0335 a0001c0053t0004g0100 a0002c0010t0001g0332	3	348	0.0086	24	c.531 others(41): Show c.531+5501_531+5502insCACACACACACACACACACACACA	LOXL2	ENSG00000134013.16	transcript	ENST00000389131.8	protein_coding	3/13			chr8	TogoVar
LOXL4_chr10_98242690_98273194	98268404	C C	CGGGGGGC others(17): Show CGGGGGGCGGGGGGAGCGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG02818.hp2 others(5): Show HG00140.hp2 HG00639.hp2 HG02818.hp2 HG02895.hp1 HG03490.hp1 NA18959.hp2 NA18964.hp2 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0004t0005 a0001c0002t0002 a0001c0004t0001 a0001c0004t0005	a0001c0002t0002g0111 a0001c0004t0001g0005 a0001c0004t0001g0025 others(4): Show a0001c0002t0002g0111 a0001c0004t0001g0005 a0001c0004t0001g0025 a0001c0004t0001g0040 a0001c0004t0001g0115 a0001c0004t0001g0116 a0001c0004t0005g0039	8	438	0.0183	24	c.-30 others(33): Show c.-306_-305insCCCCCCCCGCTCCCCCCGCCCCCC	LOXL4	ENSG00000138131.4	transcript	ENST00000260702.4	protein_coding		211		chr10	TogoVar
LPAR1_chr9_110868263_111043470	110892826	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	302	0.0033	24	c.794 others(43): Show c.794-17105_794-17104insGCCTGCCTGCCTGCCTTCCTTCCT	LPAR1	ENSG00000198121.15	transcript	ENST00000683809.1	protein_coding	5/5			chr9	TogoVar
LPA_chr6_160526482_160669275	160553954	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0058 a0003c0003t0001g0058	1	148	0.0068	24	c.497 others(43): Show c.4973+2070_4973+2071insGCGCGCACACACACACACACACAC	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	30/38			chr6	TogoVar
LPA_chr6_160526482_160669275	160553954	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0117 a0007c0012t0001g0117	1	148	0.0068	24	c.497 others(43): Show c.4973+2070_4973+2071insGCACACACACACACACACACACAC	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	30/38			chr6	TogoVar
LPA_chr6_160526482_160669275	160609848	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0002 a0002c0019t0002	a0002c0019t0002g0014 a0002c0019t0002g0014	1	148	0.0068	24	c.260 others(43): Show c.2603+1713_2603+1714insTACACACACACACACACACACACA	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	16/38			chr6	TogoVar
LPA_chr6_160526482_160669275	160654056	T T	TATAATAT others(17): Show TATAATATATATTATATATAATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18906.hp2 HG03225.hp2 NA18906.hp2	a0002 a0002	a0002c0013 a0002c0019 a0002c0013 a0002c0019	a0002c0013t0002 a0002c0019t0002 a0002c0013t0002 a0002c0019t0002	a0002c0013t0002g0013 a0002c0019t0002g0014 a0002c0013t0002g0013 a0002c0019t0002g0014	2	148	0.0135	24	c.50- others(39): Show c.50-3560_50-3559insTATATTATATATAATATATATTAT	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	1/38			chr6	TogoVar
LPA_chr6_160526482_160669275	160654060	A A	ATTATATA others(17): Show ATTATATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0082 a0003c0003t0001g0082	1	148	0.0068	24	c.50- others(39): Show c.50-3564_50-3563insATATATAATATATATTATATATAA	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	1/38			chr6	TogoVar
LPCAT2_chr16_55504072_55591666	55509991	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0081 a0001c0002t0016g0081	1	314	0.0032	24	c.171 others(39): Show c.171+656_171+657insTTTTTTTTTTTTTTTTTTTTTTTT	LPCAT2	ENSG00000087253.13	transcript	ENST00000262134.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
LPCAT4_chr15_34353633_34372196	34371786	G G	GGGGAGAG others(17): Show GGGGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	450	0.0022	24	c.-46 others(35): Show c.-4687_-4686insTCTCTCTCTCTCTCTCTCTCTCCC	LPCAT4	ENSG00000176454.15	transcript	ENST00000314891.11	protein_coding		4591		chr15	TogoVar
LPGAT1_chr1_211738457_211835763	211800035	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG03017.hp2 HG00733.hp1 HG01074.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0236 a0001c0001t0009g0011 a0001c0001t0006g0236 a0001c0001t0009g0011	3	332	0.0090	24	c.239 others(41): Show c.239-6846_239-6845insTAATAATAATAATAATAATAATAA	LPGAT1	ENSG00000123684.13	transcript	ENST00000366997.9	protein_coding	2/7			chr1	TogoVar
LPIN1_chr2_11741632_11832409	11752433	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	278	0.0036	24	c.-10 others(41): Show c.-10+5778_-10+5779insTTTTTTTTTTTTTTTTTTTTTTTT	LPIN1	ENSG00000134324.12	transcript	ENST00000674199.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
LPIN2_chr18_2911999_3018144	2956311	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03486.hp1 NA19240.hp1 others(1): Show HG01106.hp1 HG03486.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0001t0095 a0001c0001t0132 others(1): Show a0001c0001t0014 a0001c0001t0095 a0001c0001t0132 a0001c0003t0072	a0001c0001t0014g0287 a0001c0001t0095g0128 a0001c0001t0132g0376 others(1): Show a0001c0001t0014g0287 a0001c0001t0095g0128 a0001c0001t0132g0376 a0001c0003t0072g0148	4	380	0.0105	24	c.193 others(41): Show c.193-1736_193-1713dupACACACACACACACACACACACAC	LPIN2	ENSG00000101577.11	transcript	ENST00000677752.1	protein_coding	2/19			chr18	TogoVar
LPO_chr17_58233584_58273518	58254152	T T	TATAGATA others(17): Show TATAGATATATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 NA19060.hp1 HG02976.hp1 HG03540.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0078 a0001c0002t0001g0093 a0002c0003t0001g0085 a0001c0002t0001g0078 a0001c0002t0001g0093 a0002c0003t0001g0085	3	328	0.0092	24	c.110 others(41): Show c.1106-652_1106-651insTATAGATAGATAGATAGATAGATA	LPO	ENSG00000167419.11	transcript	ENST00000262290.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
LPO_chr17_58233584_58273518	58254152	T T	TATAGATA others(17): Show TATAGATATATAGATATATAGATAG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19011.hp1 NA19081.hp1 others(1): Show NA18998.hp1 NA19011.hp1 NA19081.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0094 a0001c0002t0001g0102 a0001c0002t0001g0020 a0001c0002t0001g0094 a0001c0002t0001g0102	4	328	0.0122	24	c.110 others(41): Show c.1106-652_1106-651insTATAGATATATAGATAGATAGATA	LPO	ENSG00000167419.11	transcript	ENST00000262290.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
LPO_chr17_58233584_58273518	58254152	T T	TATAGATA others(17): Show TATAGATATATATATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	328	0.0031	24	c.110 others(41): Show c.1106-652_1106-651insTATATATAGATAGATAGATAGATA	LPO	ENSG00000167419.11	transcript	ENST00000262290.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
LPP_chr3_188149157_188895671	188248468	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0027 a0002c0003t0013g0027	1	76	0.0132	24	c.-67 others(43): Show c.-67+22948_-67+22971dupTATATATATATATATATATATATA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188250794	C C	CTTTCTCT others(17): Show CTTTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0025 a0001c0002t0010g0025	1	76	0.0132	24	c.-67 others(43): Show c.-67+25268_-67+25269insTTCTCTTTCTTTCTTTCTTTCTTT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188329553	G G	GGATTTTG others(17): Show GGATTTTGGAGCATTTTGAATTTCA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0028 a0001c0002t0016g0028	1	76	0.0132	24	c.-66 others(43): Show c.-66-12101_-66-12078dupAGCATTTTGAATTTCAGATTTTGG	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188466804	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0031 a0001c0001t0049g0031	1	76	0.0132	24	c.194 others(43): Show c.194-17787_194-17786insTATATATATATATATATATATATA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188485796	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG03195.hp2 others(1): Show HG02486.hp1 HG02922.hp1 HG03195.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0002c0004 others(1): Show a0001c0002 a0002c0003 a0002c0004 a0003c0009	a0001c0002t0019 a0002c0003t0052 a0002c0004t0003 others(1): Show a0001c0002t0019 a0002c0003t0052 a0002c0004t0003 a0003c0009t0062	a0001c0002t0019g0041 a0002c0003t0052g0014 a0002c0004t0003g0050 others(1): Show a0001c0002t0019g0041 a0002c0003t0052g0014 a0002c0004t0003g0050 a0003c0009t0062g0017	4	76	0.0526	24	c.306 others(41): Show c.306+1110_306+1111insAAAAAAAAAAAAAAAAAAAAAAAA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188495064	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02074.hp1 HG01978.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0061 a0001c0002t0058 a0001c0001t0061 a0001c0002t0058	a0001c0001t0061g0023 a0001c0002t0058g0013 a0001c0001t0061g0023 a0001c0002t0058g0013	2	76	0.0263	24	c.306 others(43): Show c.306+10379_306+10380insATATATATATATATATATATATAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188613261	C C	CCTATATC others(17): Show CCTATATCTATATCTATATCTATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0031 a0001c0001t0049g0031	1	76	0.0132	24	c.111 others(43): Show c.1113+3448_1113+3471dupCTATATCTATATCTATATCTATAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188624766	C C	CCTTCCTT others(17): Show CCTTCCTTTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02602.hp1 HG01175.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0020 a0001c0005t0063 a0001c0001t0020 a0001c0005t0063	a0001c0001t0020g0067 a0001c0005t0063g0022 a0001c0001t0020g0067 a0001c0005t0063g0022	2	76	0.0263	24	c.111 others(45): Show c.1113+14922_1113+14923insCTTCCTTTTCCTTCCTTCCTTCCT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	7/11			chr3	TogoVar
LPP_chr3_188149157_188895671	188657258	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02738.hp2 HG01358.hp2 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0066 a0002c0003t0059 a0001c0006t0066 a0002c0003t0059	a0001c0006t0066g0021 a0002c0003t0059g0011 a0001c0006t0066g0021 a0002c0003t0059g0011	2	76	0.0263	24	c.111 others(45): Show c.1113+47437_1113+47438insATATATATATATATATATATATAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188804243	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02922.hp1 HG01081.hp2 HG02922.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0009 a0002c0003 a0003c0009	a0002c0003t0002 a0003c0009t0062 a0002c0003t0002 a0003c0009t0062	a0002c0003t0002g0004 a0003c0009t0062g0017 a0002c0003t0002g0004 a0003c0009t0062g0017	2	76	0.0263	24	c.141 others(45): Show c.1410+43978_1410+44001dupTATATATATATATATATATATATA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188843786	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	76	0.0132	24	c.141 others(45): Show c.1411-22402_1411-22401insAAAAAAAAAAAAAAAAAAAAAAAA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188881139	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0028 a0002c0003t0028	a0002c0003t0028g0061 a0002c0003t0028g0061	1	76	0.0132	24	c.66 others(35): Show c.6679_*6680insAAAAAAAAAAAAAAAAAAAAAAAA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	12/12	6680	INFO_REALIGN_3_PRIME	chr3	TogoVar
LRBA_chr4_150259435_151020284	150371182	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	180	0.0056	24	c.719 others(45): Show c.7195-21047_7195-21024dupAAAAAAAAAAAAAAAAAAAAAAAA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	47/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150420391	A A	AAAGTATA others(17): Show AAAGTATATATAATACACATTATAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA21309.hp1 HG02622.hp1 NA21309.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0095 a0001c0013t0003g0096 a0001c0013t0003g0095 a0001c0013t0003g0096	2	180	0.0111	24	c.704 others(43): Show c.7042-4802_7042-4801insCTATAATGTGTATTATATATACTT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150470876	C C	CACACACA others(17): Show CACACACACACACACACACACACCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18941.hp1 NA18978.hp2 HG01517.hp1 NA18941.hp1 NA18978.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0024 a0001c0001 a0010c0024	a0001c0001t0002 a0001c0001t0005 a0010c0024t0002 a0001c0001t0002 a0001c0001t0005 a0010c0024t0002	a0001c0001t0002g0098 a0001c0001t0005g0023 a0010c0024t0002g0042 a0001c0001t0002g0098 a0001c0001t0005g0023 a0010c0024t0002g0042	3	180	0.0167	24	c.666 others(41): Show c.6667+747_6667+748insTGGTGTGTGTGTGTGTGTGTGTGT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	43/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150489113	C C	CATATATA others(17): Show CATATATAATATATAAGAATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02622.hp2 others(3): Show HG02109.hp1 HG02280.hp1 HG02622.hp2 HG02630.hp2 HG02976.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0014t0003	a0001c0001t0001g0051 a0001c0001t0001g0153 a0001c0001t0003g0052 others(3): Show a0001c0001t0001g0051 a0001c0001t0001g0153 a0001c0001t0003g0052 a0001c0001t0007g0050 a0001c0014t0003g0053 a0001c0014t0003g0054	6	180	0.0333	24	c.644 others(43): Show c.6449-1303_6449-1280dupTATATATTCTTATATATTATATAT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150489127	A A	AAGAATAT others(17): Show AAGAATATATAATATATAATATATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02280.hp2 others(13): Show HG01891.hp2 HG02109.hp2 HG02280.hp2 HG02486.hp2 HG02723.hp2 HG03225.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18939.hp2 NA18941.hp2 NA18970.hp2 NA19043.hp2 NA19084.hp1 NA19091.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0020	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0003c0012 a0006c0008 a0008c0016 a0020c0021	a0001c0001t0001 a0001c0005t0001 a0002c0002t0008 others(5): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0008 a0003c0012t0003 a0006c0008t0001 a0006c0008t0002 a0008c0016t0003 a0020c0021t0002	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0068 others(13): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0005t0001g0159 a0002c0002t0008g0141 a0003c0012t0003g0078 a0006c0008t0001g0113 a0006c0008t0002g0116 a0008c0016t0003g0127 a0020c0021t0002g0047	16	180	0.0889	24	c.644 others(43): Show c.6449-1317_6449-1294dupGATATATTATATATTATATATTCT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150489140	A A	ATATAATA others(17): Show ATATAATATATAAGAATATATAATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG03139.hp2 others(2): Show HG02559.hp2 HG02622.hp1 HG03139.hp2 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0013t0003 a0001c0001t0001 a0001c0001t0003 a0001c0013t0003	a0001c0001t0001g0087 a0001c0001t0003g0045 a0001c0001t0003g0062 others(2): Show a0001c0001t0001g0087 a0001c0001t0003g0045 a0001c0001t0003g0062 a0001c0013t0003g0095 a0001c0013t0003g0096	5	180	0.0278	24	c.644 others(43): Show c.6449-1307_6449-1306insCATTATATATTCTTATATATTATA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150489239	C C	CGAATATA others(17): Show CGAATATATAATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00733.hp1 HG01934.hp2 others(3): Show HG00544.hp1 HG00733.hp1 HG01934.hp2 HG02280.hp1 HG02976.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0014 a0002c0003 others(1): Show a0001c0001 a0001c0014 a0002c0003 a0005c0011	a0001c0001t0002 a0001c0014t0003 a0002c0003t0002 others(1): Show a0001c0001t0002 a0001c0014t0003 a0002c0003t0002 a0005c0011t0001	a0001c0001t0002g0076 a0001c0014t0003g0053 a0001c0014t0003g0054 others(3): Show a0001c0001t0002g0076 a0001c0014t0003g0053 a0001c0014t0003g0054 a0002c0003t0002g0146 a0005c0011t0001g0168 a0005c0011t0001g0169	6	180	0.0333	24	c.644 others(43): Show c.6449-1429_6449-1406dupTTATATATAATATATTATATATTC	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150489465	A A	AAATATAT others(17): Show AAATATATTATATATAAGAATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG03139.hp2 others(1): Show HG02559.hp2 HG02622.hp1 HG03139.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0003 a0001c0013t0003 a0001c0001t0003 a0001c0013t0003	a0001c0001t0003g0045 a0001c0001t0003g0062 a0001c0013t0003g0095 others(1): Show a0001c0001t0003g0045 a0001c0001t0003g0062 a0001c0013t0003g0095 a0001c0013t0003g0096	4	180	0.0222	24	c.644 others(43): Show c.6448+1429_6448+1452dupATATATTCTTATATATAATATATT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150648158	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18952.hp1 NA18966.hp2 HG03831.hp2 NA18952.hp1 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0100 a0001c0001t0001g0108 a0002c0003t0001g0011 a0001c0001t0001g0100 a0001c0001t0001g0108 a0002c0003t0001g0011	3	180	0.0167	24	c.592 others(45): Show c.5921+35392_5921+35393insTTTTTTTTTTTTTTTTTTTTTTTT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150648163	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20129.hp2 HG02965.hp1 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0026 a0001c0007 a0001c0026	a0001c0007t0003 a0001c0026t0003 a0001c0007t0003 a0001c0026t0003	a0001c0007t0003g0165 a0001c0026t0003g0059 a0001c0007t0003g0165 a0001c0026t0003g0059	2	180	0.0111	24	c.592 others(45): Show c.5921+35387_5921+35388insGTTTTTTTTTTTTTTTTTTTTTTT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150658505	G G	GTCTCCCT others(17): Show GTCTCCCTCTCCCTCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0130 a0002c0002t0007g0130	1	180	0.0056	24	c.592 others(45): Show c.5921+25022_5921+25045dupGGGAGAGGGAGAGGGAGAGGGAGA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150685420	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0149 a0002c0003t0002g0149	1	180	0.0056	24	c.575 others(43): Show c.5755-1704_5755-1703insAAAATATATATATATATATATATA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	36/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150694462	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG03130.hp1 others(3): Show HG01515.hp1 HG01517.hp1 HG03130.hp1 HG03831.hp1 NA18978.hp2 NA19062.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0024 a0001c0001 a0010c0024	a0001c0001t0001 a0001c0001t0002 a0010c0024t0002 a0001c0001t0001 a0001c0001t0002 a0010c0024t0002	a0001c0001t0001g0021 a0001c0001t0002g0012 a0001c0001t0002g0098 others(3): Show a0001c0001t0001g0021 a0001c0001t0002g0012 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0105 a0010c0024t0002g0042	6	180	0.0333	24	c.575 others(45): Show c.5755-10746_5755-10745insTTTTTTTTTTTTTTTTTTTTTTTT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	36/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150861270	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02622.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0051 a0001c0001t0007g0050 a0001c0001t0001g0051 a0001c0001t0007g0050	2	180	0.0111	24	c.276 others(43): Show c.2766+6377_2766+6400dupACACACACACACACACACACACAC	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	22/56			chr4	TogoVar
LRCH1_chr13_46548170_46749898	46558572	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18975.hp2 NA18953.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0125 a0001c0007t0001g0126 a0001c0001t0001g0125 a0001c0007t0001g0126	2	274	0.0073	24	c.307 others(41): Show c.307+4872_307+4895dupAAAAAAAAAAAAAAAAAAAAAAAA	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
LRCH1_chr13_46548170_46749898	46560140	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp2 HG01433.hp2 others(2): Show HG01099.hp2 HG01192.hp2 HG01433.hp2 HG01993.hp2 NA19091.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0001 a0001c0001t0011 a0006c0014t0001 a0001c0001t0001 a0001c0001t0011 a0006c0014t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0058 a0001c0001t0011g0071 a0006c0014t0001g0070	5	274	0.0183	24	c.307 others(41): Show c.307+6446_307+6447insTATATATATATATATATATATATA	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
LRCH1_chr13_46548170_46749898	46567492	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 NA18522.hp1 HG01243.hp2 HG01884.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0008 a0001c0004t0030 a0001c0008t0006 a0001c0004t0008 a0001c0004t0030 a0001c0008t0006	a0001c0004t0008g0200 a0001c0004t0030g0198 a0001c0008t0006g0205 a0001c0004t0008g0200 a0001c0004t0030g0198 a0001c0008t0006g0205	3	274	0.0110	24	c.307 others(43): Show c.307+13801_307+13824dupGTGTGTGTGTGTGTGTGTGTGTGT	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
LRCH1_chr13_46548170_46749898	46573866	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03704.hp2 NA18942.hp2 HG00673.hp1 HG03704.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0047 a0001c0001t0001g0235 a0001c0001t0003g0029 a0001c0001t0001g0047 a0001c0001t0001g0235 a0001c0001t0003g0029	3	274	0.0110	24	c.307 others(43): Show c.307+20164_307+20165insATATATATATATATATATATATTT	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
LRCH1_chr13_46548170_46749898	46573866	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp2 HG01433.hp1 others(5): Show HG00558.hp1 HG00741.hp2 HG01433.hp1 HG01433.hp2 HG01993.hp2 NA19003.hp2 NA19077.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0042 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0237 a0001c0001t0002g0027 a0001c0001t0003g0041	8	274	0.0292	24	c.307 others(43): Show c.307+20164_307+20165insATATATATATATATATATATTTTT	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
LRCH1_chr13_46548170_46749898	46582648	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp2 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0027 a0001c0002t0003 a0001c0002t0027	a0001c0002t0003g0142 a0001c0002t0027g0108 a0001c0002t0003g0142 a0001c0002t0027g0108	2	274	0.0073	24	c.307 others(43): Show c.307+28946_307+28969dupTTTTTTTTTTTTTTTTTTTTTTTT	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
LRCH1_chr13_46548170_46749898	46600618	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	274	0.0037	24	c.307 others(43): Show c.307+46929_307+46952dupCACACACACACACACACACACACA	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar

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