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
LOC128462377_chr16_89312046_89423292	89415829	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03209.hp2 NA18998.hp2 HG01433.hp1 HG03209.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0168 a0001c0001t0000g0169 a0001c0001t0000g0170 a0001c0001t0000g0168 a0001c0001t0000g0169 a0001c0001t0000g0170	3	366	0.0082	26	c.9+2 others(39): Show c.9+2454_9+2455insTTTTTTTTTTTTTTTTTTTTTTTTTT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89415829	C C	CCAAAAAA others(19): Show CCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0167 a0001c0001t0000g0167	1	366	0.0027	26	c.9+2 others(39): Show c.9+2454_9+2455insTTTTTTTTTTTTTTTTTTTTTTTTTG	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128706665_chr20_10408708_10439222	10432289	T T	TGGAAGCG others(19): Show TGGAAGCGAGGCCAAGGGAGGAGGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	408	0.0025	26	c.-22 others(43): Show c.-22+1818_-22+1819insCCCCCTCCTCCCTTGGCCTCGCTTCC	LOC128706665	ENSG00000285723.2	transcript	ENST00000649912.2	protein_coding	1/2			chr20	TogoVar
LOC128706666_chr20_10408708_10439222	10432289	T T	TGGAAGCG others(19): Show TGGAAGCGAGGCCAAGGGAGGAGGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	408	0.0025	26	c.-27 others(45): Show c.-276+1818_-276+1819insCCCCCTCCTCCCTTGGCCTCGCTTCC	LOC128706666	ENSG00000285508.2	transcript	ENST00000713549.1	protein_coding	1/2			chr20	TogoVar
LOC400499_chr16_11367015_11532247	11369976	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0196 a0196	a0196c0226 a0196c0226	a0196c0226t0002 a0196c0226t0002	a0196c0226t0002g0131 a0196c0226t0002g0131	1	310	0.0032	26	c.27 others(37): Show c.2757_*2758insTATATATATATATATATATATATATA	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding		2038		chr16	TogoVar
LOC93622_chr4_6669075_6681047	6678064	G G	GTTTTTTG others(19): Show GTTTTTTGTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	462	0.0022	26	c.34 others(37): Show c.3492_*3493insTTTTTTGTTTTTTTTTTTTTTTTTTT	LOC93622	ENSG00000170846.17	transcript	ENST00000635031.2	protein_coding		2018		chr4	TogoVar
LOC93622_chr4_6669075_6681047	6678064	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTGTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	462	0.0022	26	c.34 others(37): Show c.3492_*3493insTTTTTTTTTTTTTTTTTTTGTTTTTT	LOC93622	ENSG00000170846.17	transcript	ENST00000635031.2	protein_coding		2018		chr4	TogoVar
LOC93622_chr4_6669075_6681047	6678064	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG02486.hp2 HG02572.hp2 others(7): Show HG01168.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02717.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019 a0001c0004t0007 a0003c0005t0004	a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0001t0018g0000 others(3): Show a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0001t0018g0000 a0001c0001t0019g0000 a0001c0004t0007g0000 a0003c0005t0004g0000	10	462	0.0217	26	c.34 others(37): Show c.3492_*3493insTTTTTTTTTTTTTTTTTTTTTTTTTT	LOC93622	ENSG00000170846.17	transcript	ENST00000635031.2	protein_coding		2018		chr4	TogoVar
LONP1_chr19_5686834_5725146	5709907	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0344 a0003c0003t0001g0344	1	386	0.0026	26	c.871 others(43): Show c.871-1530_871-1505dupTTTTTTTTTTTTTTTTTTTTTTTTTT	LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding	4/17			chr19	TogoVar
LONP1_chr19_5686834_5725146	5716259	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	386	0.0026	26	c.430 others(43): Show c.430-2014_430-1989dupATATATATATATATATATATATATAT	LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding	1/17			chr19	TogoVar
LOXL2_chr8_23291897_23409120	23328709	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02622.hp1 others(1): Show HG01884.hp2 HG02559.hp2 HG02622.hp1 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0002c0049 a0001c0013 a0002c0049	a0001c0013t0001 a0002c0049t0001 a0001c0013t0001 a0002c0049t0001	a0001c0013t0001g0013 a0001c0013t0001g0083 a0001c0013t0001g0084 others(1): Show a0001c0013t0001g0013 a0001c0013t0001g0083 a0001c0013t0001g0084 a0002c0049t0001g0326	4	348	0.0115	26	c.967 others(41): Show c.967-170_967-145dupCACACACACACACACACACACACACA	LOXL2	ENSG00000134013.16	transcript	ENST00000389131.8	protein_coding	5/13			chr8	TogoVar
LOXL2_chr8_23291897_23409120	23354588	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02922.hp1 NA18952.hp1 HG02080.hp1 HG02922.hp1 NA18952.hp1	a0002 a0002	a0002c0010 a0002c0026 a0002c0010 a0002c0026	a0002c0010t0007 a0002c0026t0002 a0002c0010t0007 a0002c0026t0002	a0002c0010t0007g0340 a0002c0026t0002g0223 a0002c0026t0002g0224 a0002c0010t0007g0340 a0002c0026t0002g0223 a0002c0026t0002g0224	3	348	0.0086	26	c.531 others(43): Show c.531+5501_531+5502insCACACACACACACACACACACACACA	LOXL2	ENSG00000134013.16	transcript	ENST00000389131.8	protein_coding	3/13			chr8	TogoVar
LOXL4_chr10_98242690_98273194	98268404	C C	CGGGGGGC others(19): Show CGGGGGGCGGGGGGAGCGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	438	0.0023	26	c.-30 others(35): Show c.-306_-305insCCCCCCCCCCGCTCCCCCCGCCCCCC	LOXL4	ENSG00000138131.4	transcript	ENST00000260702.4	protein_coding		211		chr10	TogoVar
LPA_chr6_160526482_160669275	160553954	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp2 HG00280.hp1 HG01192.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0114 a0011c0014t0001g0119 a0011c0014t0001g0114 a0011c0014t0001g0119	2	148	0.0135	26	c.497 others(45): Show c.4973+2070_4973+2071insGCACACACACACACACACACACACAC	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	30/38			chr6	TogoVar
LPCAT1_chr5_1456427_1528960	1492250	A A	AGCCTGGG others(19): Show AGCCTGGGGAGATGTCTCTGAGCTGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp2 HG02486.hp2 HG03041.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0002 a0004c0014t0034 a0001c0001t0002 a0004c0014t0034	a0001c0001t0002g0109 a0004c0014t0034g0145 a0001c0001t0002g0109 a0004c0014t0034g0145	2	386	0.0052	26	c.494 others(43): Show c.494-2418_494-2393dupCCCAGCTCAGAGACATCTCCCCAGGC	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding	3/13			chr5	TogoVar
LPIN2_chr18_2911999_3018144	2956311	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 HG03927.hp1 HG02922.hp2 HG03453.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0103 a0001c0001t0001 a0001c0001t0014 a0001c0001t0103	a0001c0001t0001g0206 a0001c0001t0014g0150 a0001c0001t0103g0152 a0001c0001t0001g0206 a0001c0001t0014g0150 a0001c0001t0103g0152	3	380	0.0079	26	c.193 others(43): Show c.193-1738_193-1713dupACACACACACACACACACACACACAC	LPIN2	ENSG00000101577.11	transcript	ENST00000677752.1	protein_coding	2/19			chr18	TogoVar
LPIN2_chr18_2911999_3018144	2958141	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG04199.hp2 HG01952.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0215 a0001c0001t0013g0094 a0001c0001t0001g0215 a0001c0001t0013g0094	2	380	0.0053	26	c.192 others(43): Show c.192+2507_192+2508insTTTTTTTTTTTTTTTTTTTTTTTTTT	LPIN2	ENSG00000101577.11	transcript	ENST00000677752.1	protein_coding	2/19			chr18	TogoVar
LPP_chr3_188149157_188895671	188213961	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0069 a0001c0001t0026g0069	1	76	0.0132	26	c.-18 others(47): Show c.-189-11429_-189-11404dupACACACACACACACACACACACAC AC	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188248468	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01358.hp2 HG02630.hp1 HG01256.hp2 HG01358.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0008 a0001c0001 a0002c0003 a0002c0008	a0001c0001t0051 a0002c0003t0059 a0002c0008t0027 a0001c0001t0051 a0002c0003t0059 a0002c0008t0027	a0001c0001t0051g0019 a0002c0003t0059g0011 a0002c0008t0027g0042 a0001c0001t0051g0019 a0002c0003t0059g0011 a0002c0008t0027g0042	3	76	0.0395	26	c.-67 others(45): Show c.-67+22946_-67+22971dupTATATATATATATATATATATATATA	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(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03098.hp1 HG01256.hp1 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0009 a0002c0004t0068 a0002c0003t0009 a0002c0004t0068	a0002c0003t0009g0070 a0002c0004t0068g0020 a0002c0003t0009g0070 a0002c0004t0068g0020	2	76	0.0263	26	c.194 others(45): Show c.194-17787_194-17786insTATATATATATATATATATATATATA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188495064	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0034 a0002c0003t0006g0034	1	76	0.0132	26	c.306 others(45): Show c.306+10379_306+10380insATATATATATATATATATATATATAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188495064	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0023 a0002c0003t0023	a0002c0003t0023g0001 a0002c0003t0023g0001	1	76	0.0132	26	c.306 others(45): Show c.306+10361_306+10362insTTATATATATATATATATATATATAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188881139	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0031 a0001c0005t0031	a0001c0005t0031g0003 a0001c0005t0031g0003	1	76	0.0132	26	c.66 others(37): Show c.6679_*6680insAAAAAAAAAAAAAAAAAAAAAAAAAA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	12/12	6680	INFO_REALIGN_3_PRIME	chr3	TogoVar
LRBA_chr4_150259435_151020284	150470876	C C	CACACACA others(19): Show CACACACACACACACACACACACACCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18962.hp1 HG01515.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0002g0012 a0001c0001t0001g0024 a0001c0001t0002g0012	2	180	0.0111	26	c.666 others(43): Show c.6667+747_6667+748insTGGTGTGTGTGTGTGTGTGTGTGTGT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	43/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150489177	G G	GAATATAT others(19): Show GAATATATAATATATAATATATCAGAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0130 a0002c0002t0007g0130	1	180	0.0056	26	c.644 others(45): Show c.6449-1344_6449-1343insTTCTGATATATTATATATTATATATT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150489554	C C	CATAATAT others(19): Show CATAATATATATTATATATAAGAATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0001 a0002c0040t0001	a0002c0040t0001g0129 a0002c0040t0001g0129	1	180	0.0056	26	c.644 others(45): Show c.6448+1338_6448+1363dupATATTCTTATATATAATATATATTAT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150555756	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03540.hp2 HG02451.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0002g0031 a0001c0001t0001g0026 a0001c0001t0002g0031	2	180	0.0111	26	c.633 others(47): Show c.6330+32266_6330+32291dupGTGTGTGTGTGTGTGTGTGTGTGT GT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	40/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150592144	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19004.hp1 HG03540.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0022 a0001c0001t0002g0031	2	180	0.0111	26	c.604 others(45): Show c.6047-1311_6047-1286dupAAAAAAAAAAAAAAAAAAAAAAAAAA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	38/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150648158	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02723.hp1 others(2): Show HG01891.hp1 HG02280.hp2 HG02723.hp1 NA18959.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0090 a0001c0001t0001g0091 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0121	5	180	0.0278	26	c.592 others(47): Show c.5921+35392_5921+35393insTTTTTTTTTTTTTTTTTTTTTTTT TT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150685420	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0151 a0002c0003t0002g0151	1	180	0.0056	26	c.575 others(45): Show c.5755-1704_5755-1703insAAAATATATATATATATATATATATA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	36/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150685420	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	180	0.0056	26	c.575 others(45): Show c.5755-1704_5755-1703insAAAAAATATATATATATATATATATA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	36/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150694462	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03225.hp2 HG03516.hp1 others(1): Show HG02647.hp2 HG03225.hp2 HG03516.hp1 NA19007.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0021 a0001c0001 a0020c0021	a0001c0001t0002 a0001c0001t0003 a0020c0021t0002 a0001c0001t0002 a0001c0001t0003 a0020c0021t0002	a0001c0001t0002g0019 a0001c0001t0002g0103 a0001c0001t0003g0060 others(1): Show a0001c0001t0002g0019 a0001c0001t0002g0103 a0001c0001t0003g0060 a0020c0021t0002g0047	4	180	0.0222	26	c.575 others(47): Show c.5755-10746_5755-10745insTTTTTTTTTTTTTTTTTTTTTTTT TT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	36/56			chr4	TogoVar
LRCH1_chr13_46548170_46749898	46558572	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	274	0.0073	26	c.307 others(43): Show c.307+4870_307+4895dupAAAAAAAAAAAAAAAAAAAAAAAAAA	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(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(38): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01517.hp1 HG01934.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02132.hp2 HG02165.hp2 HG02602.hp2 HG02698.hp1 HG03239.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18962.hp1 NA18974.hp1 NA18994.hp1 NA19003.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19077.hp2 NA19085.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0003t0004	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(38): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0194 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0037 a0001c0001t0002g0055 a0001c0001t0003g0041 a0001c0001t0003g0068 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0014g0015 a0001c0001t0014g0039 a0001c0001t0017g0059 a0001c0001t0018g0026 a0001c0001t0018g0043 a0001c0003t0004g0022	41	274	0.1496	26	c.307 others(43): Show c.307+6446_307+6447insTATATATATATATATATATATATATA	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(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18906.hp1 HG02717.hp2 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0009 a0001c0010t0004 a0001c0004t0009 a0001c0010t0004	a0001c0004t0009g0197 a0001c0010t0004g0203 a0001c0004t0009g0197 a0001c0010t0004g0203	2	274	0.0073	26	c.307 others(45): Show c.307+13799_307+13824dupGTGTGTGTGTGTGTGTGTGTGTGTGT	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
LRCH1_chr13_46548170_46749898	46573845	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19007.hp2 HG04184.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0033 a0001c0001t0017g0057 a0001c0001t0001g0033 a0001c0001t0017g0057	2	274	0.0073	26	c.307 others(45): Show c.307+20164_307+20165insATATATATATATATATATATATATAT	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(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02040.hp1 HG02698.hp2 others(3): Show HG01884.hp2 HG02040.hp1 HG02698.hp2 HG03831.hp1 NA18942.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0048 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0003g0245 a0001c0001t0010g0248 a0001c0001t0014g0015	6	274	0.0219	26	c.307 others(45): Show c.307+20164_307+20165insATATATATATATATATATATATATTT	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(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19060.hp1 NA20805.hp2 HG00639.hp1 NA19060.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0040 a0001c0001t0001g0234 a0001c0001t0014g0039 a0001c0001t0001g0040 a0001c0001t0001g0234 a0001c0001t0014g0039	3	274	0.0110	26	c.307 others(45): Show c.307+20164_307+20165insATATATATATATATATATATATTTTT	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(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03704.hp1 NA19064.hp2 HG00735.hp2 HG03704.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0067 a0001c0001t0001g0255 a0001c0001t0001g0012 a0001c0001t0001g0067 a0001c0001t0001g0255	3	274	0.0110	26	c.307 others(45): Show c.307+20164_307+20165insATATATATATATATATATATTTTTTT	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(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	274	0.0037	26	c.307 others(45): Show c.307+20164_307+20165insATATATATATATATATATTTTTTTTT	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(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG04228.hp1 HG02280.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0018 a0001c0003 a0001c0018	a0001c0003t0004 a0001c0018t0029 a0001c0003t0004 a0001c0018t0029	a0001c0003t0004g0088 a0001c0018t0029g0113 a0001c0003t0004g0088 a0001c0018t0029g0113	2	274	0.0073	26	c.307 others(45): Show c.307+46927_307+46952dupCACACACACACACACACACACACACA	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
LRCH3_chr3_197786254_197893436	197792577	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00639.hp2 others(13): Show HG00280.hp1 HG00639.hp1 HG00639.hp2 HG01099.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01515.hp1 HG02559.hp1 HG02622.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG04228.hp2 NA18963.hp1 NA19057.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0003c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0054 a0001c0001t0064 a0001c0002t0001 a0001c0002t0010 a0001c0007t0006 a0002c0003t0002 a0003c0009t0068	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 others(13): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0007g0157 a0001c0001t0007g0163 a0001c0001t0011g0072 a0001c0001t0014g0166 a0001c0001t0054g0158 a0001c0001t0064g0165 a0001c0002t0001g0086 a0001c0002t0001g0153 a0001c0002t0001g0162 a0001c0002t0010g0159 a0001c0007t0006g0161 a0002c0003t0002g0160 a0003c0009t0068g0164	16	292	0.0548	26	c.262 others(43): Show c.262+1040_262+1065dupTATATATATATATATATATATATATA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197792577	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0292 a0001c0001t0014g0292	1	292	0.0034	26	c.262 others(43): Show c.262+1038_262+1039insTTATATATATATATATATATATATAT	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197817360	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG03225.hp2 HG01884.hp1 HG02717.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0021 a0001c0002t0001 a0001c0001t0002 a0001c0001t0021 a0001c0002t0001	a0001c0001t0002g0042 a0001c0001t0021g0039 a0001c0002t0001g0035 a0001c0001t0002g0042 a0001c0001t0021g0039 a0001c0002t0001g0035	3	292	0.0103	26	c.534 others(39): Show c.534+77_534+78insATATATATATATATATATATATATAT	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRFN2_chr6_40386591_40592364	40577108	C C	CTCTTCTC others(19): Show CTCTTCTCTTCTCTTCTCTTCTCCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01256.hp2 others(3): Show HG00099.hp1 HG00735.hp2 HG01256.hp2 HG02080.hp2 HG03209.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0008t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0212 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0212 a0001c0002t0001g0047 a0001c0002t0002g0210 a0002c0008t0001g0213	6	228	0.0263	26	c.-19 others(43): Show c.-19+9832_-19+9833insAGAGGAGAAGAGAAGAGAAGAGAAGA	LRFN2	ENSG00000156564.10	transcript	ENST00000338305.7	protein_coding	1/2			chr6	TogoVar
LRFN5_chr14_41601876_41909549	41610661	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19006.hp2 NA19074.hp2 HG01891.hp2 NA19006.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0001t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055	3	280	0.0107	26	c.-19 others(45): Show c.-197+2121_-197+2122insAAAAAAAAAAAAAAAAAAAAAAAAAA	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41671617	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	280	0.0036	26	c.-19 others(47): Show c.-197+63075_-197+63076insTTTTTTTTTTTTTTTTTTTTTTTT TT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41704448	C C	CTCTCTCT others(19): Show CTCTCTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp2 HG02572.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0276 a0001c0001t0013g0279 a0001c0001t0006g0276 a0001c0001t0013g0279	2	280	0.0071	26	c.-19 others(47): Show c.-196-62405_-196-62404insCTCTCTGTGTGTGTGTGTGTGTGT GT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41704448	C C	CTCTGTGT others(19): Show CTCTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02895.hp2 HG02630.hp1 HG02717.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0122 a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0001t0004g0122 a0001c0002t0004g0137 a0001c0002t0004g0138	3	280	0.0107	26	c.-19 others(47): Show c.-196-62405_-196-62404insCTGTGTGTGTGTGTGTGTGTGTGT GT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41704448	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18522.hp2 NA20300.hp1 HG02896.hp1 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0011 a0001c0003t0004 a0001c0001t0004 a0001c0001t0011 a0001c0003t0004	a0001c0001t0004g0125 a0001c0001t0011g0115 a0001c0003t0004g0133 a0001c0001t0004g0125 a0001c0001t0011g0115 a0001c0003t0004g0133	3	280	0.0107	26	c.-19 others(47): Show c.-196-62393_-196-62392insGTGTGTGTGTGTGTGTGTGTGTGT GT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar

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