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	status	chr	external
LPP_chr3_188149157_188895671	188563458	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02109.hp2 HG02630.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0027 a0002c0008t0060 a0002c0008t0027 a0002c0008t0060	a0002c0008t0027g0042 a0002c0008t0060g0015 a0002c0008t0027g0042 a0002c0008t0060g0015	2	76	0.0263	22	c.429 others(41): Show c.429+38672_429+38673insGTGTGTGTGTGTGTGTGTGTGT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	6/11	INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188592563	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTTGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG02630.hp2 HG02922.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0015 a0003c0009t0062 a0003c0009t0015 a0003c0009t0062	a0003c0009t0015g0066 a0003c0009t0062g0017 a0003c0009t0015g0066 a0003c0009t0062g0017	2	76	0.0263	22	c.430 others(41): Show c.430-16598_430-16597insTTTTTTTTTTTTTTTTTTTTGG	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	6/11		chr3	TogoVar
LPP_chr3_188149157_188895671	188657258	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01081.hp1 others(22): Show HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01256.hp1 HG01358.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03704.hp1 HG03834.hp1 NA18522.hp1 NA19030.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0002c0004 a0002c0007 a0002c0008 a0002c0014 a0003c0009	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(22): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0001t0020 a0001c0001t0025 a0001c0002t0001 a0001c0002t0010 a0001c0002t0050 a0001c0002t0054 a0001c0005t0030 a0001c0005t0042 a0001c0006t0032 a0001c0006t0041 a0001c0006t0064 a0002c0003t0004 a0002c0003t0023 a0002c0003t0053 a0002c0003t0056 a0002c0004t0012 a0002c0004t0068 a0002c0007t0002 a0002c0007t0021 a0002c0008t0027 a0002c0014t0065 a0003c0009t0015	a0001c0001t0001g0035 a0001c0001t0008g0065 a0001c0001t0017g0064 others(22): Show a0001c0001t0001g0035 a0001c0001t0008g0065 a0001c0001t0017g0064 a0001c0001t0020g0067 a0001c0001t0025g0068 a0001c0002t0001g0029 a0001c0002t0010g0025 a0001c0002t0050g0052 a0001c0002t0054g0018 a0001c0005t0030g0047 a0001c0005t0042g0037 a0001c0006t0032g0005 a0001c0006t0041g0002 a0001c0006t0064g0007 a0002c0003t0004g0044 a0002c0003t0023g0001 a0002c0003t0053g0010 a0002c0003t0056g0016 a0002c0004t0012g0040 a0002c0004t0068g0020 a0002c0007t0002g0073 a0002c0007t0021g0063 a0002c0008t0027g0042 a0002c0014t0065g0009 a0003c0009t0015g0066	25	76	0.3290	22	c.111 others(43): Show c.1113+47416_1113+47437dupATATATATATATATATATATAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	7/11	INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188657258	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0072 a0001c0001t0018g0072	1	76	0.0132	22	c.111 others(43): Show c.1113+47415_1113+47416insGTATATATATATATATATATAT	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(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01167.hp2 HG00673.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0057 a0001c0001t0018 a0001c0001t0057	a0001c0001t0018g0072 a0001c0001t0057g0006 a0001c0001t0018g0072 a0001c0001t0057g0006	2	76	0.0263	22	c.141 others(43): Show c.1410+43980_1410+44001dupTATATATATATATATATATATA	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(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0014 a0007c0012t0014	a0007c0012t0014g0045 a0007c0012t0014g0045	1	76	0.0132	22	c.141 others(43): Show c.1411-22402_1411-22401insAAAAAAAAAAAAAAAAAAAAAA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11	INFO_REALIGN_3_PRIME	chr3	TogoVar
LRBA_chr4_150259435_151020284	150323025	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02647.hp2 NA18957.hp1 others(2): Show HG01255.hp1 HG02647.hp2 NA18957.hp1 NA18962.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0032 a0001c0001 a0001c0032	a0001c0001t0001 a0001c0001t0002 a0001c0032t0001 a0001c0001t0001 a0001c0001t0002 a0001c0032t0001	a0001c0001t0001g0005 a0001c0001t0001g0077 a0001c0001t0001g0081 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0002g0019 a0001c0032t0001g0171	5	180	0.0278	22	c.745 others(41): Show c.7453-1658_7453-1657insAACACACACACACACACACACA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	49/56		chr4	TogoVar
LRBA_chr4_150259435_151020284	150396480	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0003 a0008c0016t0003	a0008c0016t0003g0127 a0008c0016t0003g0127	1	180	0.0056	22	c.719 others(43): Show c.7194+18936_7194+18957dupTGTGTGTGTGTGTGTGTGTGTG	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	47/56		chr4	TogoVar
LRBA_chr4_150259435_151020284	150470876	C C	CACACACA others(15): Show CACACACACACACACACACACCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	180	0.0056	22	c.666 others(39): Show c.6667+747_6667+748insTGGTGTGTGTGTGTGTGTGTGT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	43/56		chr4	TogoVar
LRBA_chr4_150259435_151020284	150489232	A A	ATATACAC others(15): Show ATATACACGAATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0124 a0002c0002t0003g0124	1	180	0.0056	22	c.644 others(41): Show c.6449-1399_6449-1398insATATATTATATATTCGTGTATA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56		chr4	TogoVar
LRBA_chr4_150259435_151020284	150489321	A A	ATATATTA others(15): Show ATATATTATATATACGAATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG03516.hp1 others(2): Show HG02486.hp2 HG02723.hp2 HG03516.hp1 NA18970.hp2 NA19091.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0020c0021 a0001c0001 a0020c0021	a0001c0001t0001 a0020c0021t0002 a0001c0001t0001 a0020c0021t0002	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0082 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0082 a0001c0001t0001g0097 a0020c0021t0002g0047	5	180	0.0278	22	c.644 others(41): Show c.6449-1488_6449-1487insATATATTCGTATATATAATATA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	41/56		chr4	TogoVar
LRBA_chr4_150259435_151020284	150555756	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp1 HG01515.hp1 others(7): Show HG00597.hp2 HG00738.hp1 HG01515.hp1 HG02027.hp2 HG02572.hp2 HG03195.hp2 HG03831.hp1 NA18950.hp1 NA18959.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0002g0012 others(7): Show a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0002g0012 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0101 a0001c0001t0003g0037 a0001c0001t0004g0025 a0001c0001t0004g0065 a0001c0001t0004g0104	10	180	0.0556	22	c.633 others(43): Show c.6330+32270_6330+32291dupGTGTGTGTGTGTGTGTGTGTGT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	40/56		chr4	TogoVar
LRBA_chr4_150259435_151020284	150648158	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG01255.hp1 others(7): Show HG00621.hp1 HG00738.hp2 HG01255.hp1 HG01517.hp2 HG02135.hp2 HG03516.hp2 NA18950.hp2 NA18978.hp1 NA19068.hp2 NA19091.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0003c0023 a0004c0006 others(1): Show a0001c0001 a0003c0023 a0004c0006 a0007c0009	a0001c0001t0001 a0003c0023t0003 a0004c0006t0003 others(1): Show a0001c0001t0001 a0003c0023t0003 a0004c0006t0003 a0007c0009t0003	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0067 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0122 a0003c0023t0003g0069 a0004c0006t0003g0148 a0004c0006t0003g0150 a0007c0009t0003g0007	10	180	0.0556	22	c.592 others(43): Show c.5921+35392_5921+35393insTTTTTTTTTTTTTTTTTTTTTT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56		chr4	TogoVar
LRBA_chr4_150259435_151020284	150685420	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	180	0.0056	22	c.575 others(41): Show c.5755-1704_5755-1703insAAAATATATATATATATATATA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	36/56		chr4	TogoVar
LRBA_chr4_150259435_151020284	150694462	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02572.hp2 HG03195.hp1 others(2): Show HG02027.hp2 HG02572.hp2 HG03195.hp1 HG03453.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0017 a0002c0002 a0001c0001 a0001c0017 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0017t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0017t0010 a0002c0002t0001	a0001c0001t0001g0027 a0001c0001t0002g0041 a0001c0001t0002g0057 others(2): Show a0001c0001t0001g0027 a0001c0001t0002g0041 a0001c0001t0002g0057 a0001c0017t0010g0136 a0002c0002t0001g0137	5	180	0.0278	22	c.575 others(43): Show c.5755-10746_5755-10745insTTTTTTTTTTTTTTTTTTTTTT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	36/56		chr4	TogoVar
LRBA_chr4_150259435_151020284	150724865	A A	AATATATG others(15): Show AATATATGTATATATATACATAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	180	0.0056	22	c.575 others(43): Show c.5754+10371_5754+10392dupATATGTATATATATACATATAT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	36/56		chr4	TogoVar
LRBA_chr4_150259435_151020284	150922394	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19084.hp1 NA18522.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0068 a0001c0001t0001g0087	2	180	0.0111	22	c.550 others(39): Show c.550-1123_550-1102dupTATATATATATATATATATATA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	4/56		chr4	TogoVar
LRBA_chr4_150259435_151020284	151008988	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0128 a0004c0006t0003g0128	1	180	0.0056	22	c.216 others(39): Show c.216+5438_216+5439insATATTTTTTTTTTTTTTTTTTT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	2/56		chr4	TogoVar
LRCH1_chr13_46548170_46749898	46558572	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01261.hp1 HG01261.hp2 others(4): Show HG01099.hp1 HG01261.hp1 HG01261.hp2 HG02040.hp2 HG02602.hp1 HG02683.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(4): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0002g0131 a0001c0001t0003g0135 a0001c0001t0014g0130	7	274	0.0256	22	c.307 others(39): Show c.307+4874_307+4895dupAAAAAAAAAAAAAAAAAAAAAA	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(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02165.hp1 HG02451.hp1 others(8): Show HG01074.hp1 HG02165.hp1 HG02451.hp1 HG03130.hp1 HG03669.hp2 HG04184.hp1 NA18955.hp2 NA18960.hp1 NA18974.hp2 NA19010.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0003t0004 a0002c0006t0007	a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0270 others(8): Show a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0003g0099 a0001c0001t0026g0266 a0001c0003t0004g0273 a0002c0006t0007g0192	11	274	0.0402	22	c.307 others(39): Show c.307+6446_307+6447insTATATATATATATATATATATA	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(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0199 a0001c0001t0006g0199	1	274	0.0037	22	c.307 others(41): Show c.307+13803_307+13824dupGTGTGTGTGTGTGTGTGTGTGT	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(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG02071.hp1 others(2): Show HG00408.hp1 HG00558.hp2 HG02071.hp1 NA18966.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0224 a0001c0001t0001g0236 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0224 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0250	5	274	0.0183	22	c.307 others(41): Show c.307+20143_307+20164dupATATATATATATATATATATAT	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(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02015.hp2 NA18966.hp1 others(1): Show HG01993.hp1 HG02015.hp2 NA18966.hp1 NA19074.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0011 others(1): Show a0001c0001 a0001c0003 a0003c0011 a0004c0015	a0001c0001t0001 a0001c0003t0004 a0003c0011t0002 others(1): Show a0001c0001t0001 a0001c0003t0004 a0003c0011t0002 a0004c0015t0001	a0001c0001t0001g0028 a0001c0003t0004g0022 a0003c0011t0002g0227 others(1): Show a0001c0001t0001g0028 a0001c0003t0004g0022 a0003c0011t0002g0227 a0004c0015t0001g0030	4	274	0.0146	22	c.307 others(41): Show c.307+20164_307+20165insATATATATATATATATATATTT	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(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01516.hp2 HG02129.hp2 others(4): Show HG01192.hp2 HG01516.hp2 HG02129.hp2 NA18945.hp2 NA19010.hp1 NA19060.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0011 a0001c0003t0004 a0001c0001t0001 a0001c0001t0011 a0001c0003t0004	a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0064 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0001t0011g0071 a0001c0003t0004g0035 a0001c0003t0004g0060 a0001c0003t0004g0086	7	274	0.0256	22	c.307 others(41): Show c.307+20164_307+20165insATATATATATATATATATTTTT	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(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02698.hp1 NA19007.hp1 others(2): Show HG02165.hp2 HG02698.hp1 NA19007.hp1 NA19009.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0050 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0194 a0001c0003t0004g0034	5	274	0.0183	22	c.307 others(41): Show c.307+20164_307+20165insATATATATATATATATTTTTTT	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19	INFO_REALIGN_3_PRIME	chr13	TogoVar
LRCH2_chrX_115105616_115239096	115167191	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02735.hp1 HG04184.hp2 HG00735.hp2 HG02735.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0010g0006 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0010g0006	3	238	0.0126	22	c.999 others(37): Show c.999-871_999-850dupTTTTTTTTTTTTTTTTTTTTTT	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	6/20		chrX	TogoVar
LRCH2_chrX_115105616_115239096	115197818	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0158 a0001c0005t0002g0158	1	238	0.0042	22	c.350 others(39): Show c.350-9470_350-9449dupGAGAGAGAGAGAGAGAGAGAGA	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	1/20		chrX	TogoVar
LRCH2_chrX_115105616_115239096	115197847	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	238	0.0042	22	c.350 others(39): Show c.350-9478_350-9477insTGTGTGTGTGTGAGAGAGAGAG	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	1/20		chrX	TogoVar
LRCH2_chrX_115105616_115239096	115197847	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19081.hp1 HG04115.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0210 a0001c0001t0001g0220	2	238	0.0084	22	c.350 others(39): Show c.350-9478_350-9477insTGTGTGTGTGAGAGAGAGAGAG	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	1/20		chrX	TogoVar
LRCH2_chrX_115105616_115239096	115197847	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	238	0.0042	22	c.350 others(39): Show c.350-9478_350-9477insTGTGTGTGAGAGAGAGAGAGAG	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	1/20		chrX	TogoVar
LRCH2_chrX_115105616_115239096	115197847	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp1 HG04204.hp1 others(1): Show HG00673.hp1 HG02027.hp1 HG04204.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0106 a0001c0001t0001g0107 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0163	4	238	0.0168	22	c.350 others(39): Show c.350-9478_350-9477insTGTGTGAGAGAGAGAGAGAGAG	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	1/20		chrX	TogoVar
LRCH2_chrX_115105616_115239096	115197847	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02559.hp1 HG02622.hp1 others(1): Show HG00642.hp1 HG02559.hp1 HG02622.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0049 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0049 a0001c0001t0001g0105 a0001c0001t0002g0194	4	238	0.0168	22	c.350 others(39): Show c.350-9478_350-9477insTGTGAGAGAGAGAGAGAGAGAG	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	1/20		chrX	TogoVar
LRCH2_chrX_115105616_115239096	115197847	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	238	0.0042	22	c.350 others(39): Show c.350-9478_350-9477insTGAGAGAGAGAGAGAGAGAGAG	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	1/20		chrX	TogoVar
LRCH3_chr3_197786254_197893436	197792577	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02109.hp1 HG02148.hp1 others(6): Show HG00280.hp2 HG02109.hp1 HG02148.hp1 HG02818.hp2 HG03130.hp1 HG04228.hp1 NA18962.hp1 NA19002.hp2 NA19043.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0010c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0022 a0001c0002t0001 a0001c0002t0004 a0001c0004t0006 a0010c0019t0001	a0001c0001t0001g0135 a0001c0001t0002g0132 a0001c0001t0011g0070 others(6): Show a0001c0001t0001g0135 a0001c0001t0002g0132 a0001c0001t0011g0070 a0001c0001t0011g0136 a0001c0001t0022g0071 a0001c0002t0001g0133 a0001c0002t0004g0134 a0001c0004t0006g0138 a0010c0019t0001g0137	9	292	0.0308	22	c.262 others(39): Show c.262+1044_262+1065dupTATATATATATATATATATATA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	1/20	INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197812504	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02486.hp2 HG01361.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0075 a0001c0001t0011g0072 a0001c0001t0008g0075 a0001c0001t0011g0072	2	292	0.0069	22	c.263 others(39): Show c.263-2399_263-2378dupTTTTTTTTTTTTTTTTTTTTTT	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	1/20	INFO_REALIGN_3_PRIME	chr3	TogoVar
LRFN5_chr14_41601876_41909549	41610661	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18998.hp2 HG02074.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0061 a0001c0001t0001g0062	2	280	0.0071	22	c.-19 others(41): Show c.-197+2100_-197+2121dupAAAAAAAAAAAAAAAAAAAAAA	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(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	280	0.0036	22	c.-19 others(43): Show c.-197+63075_-197+63076insTTTTTTTTTTTTTTTTTTTTTT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5	INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41704436	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0266 a0001c0002t0025g0266	1	280	0.0036	22	c.-19 others(43): Show c.-196-62417_-196-62416insGTGTGTGTGTGTGTGTGTGTGT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5	INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41704438	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0280 a0001c0001t0014g0280	1	280	0.0036	22	c.-19 others(43): Show c.-196-62415_-196-62414insGTGTGTGTGTGTGTGTGTGTGT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5	INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41704446	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0140 a0001c0001t0009g0140	1	280	0.0036	22	c.-19 others(43): Show c.-196-62407_-196-62406insGTGTGTGTGTGTGTGTGTGTGT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5	INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41734316	T T	TTATATAC others(15): Show TTATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	280	0.0036	22	c.-19 others(43): Show c.-196-32532_-196-32531insCATATATATATATATATATATA	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5	INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41734316	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01099.hp2 others(11): Show HG00140.hp2 HG01070.hp1 HG01099.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG02559.hp1 HG03471.hp2 HG03491.hp1 HG03831.hp1 HG03942.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0020 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 others(11): Show a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0002g0018 a0001c0001t0002g0076 a0001c0001t0009g0132 a0001c0001t0020g0216 a0001c0002t0002g0006 a0001c0002t0002g0011 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0003g0264	14	280	0.0500	22	c.-19 others(43): Show c.-196-32530_-196-32509dupATATATATATATATATATATAT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5	INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41856675	A A	ATTATTAT others(15): Show ATTATTATTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0132 a0001c0001t0009g0132	1	280	0.0036	22	c.-20 others(41): Show c.-20-29929_-20-29928insATTATTATTTTTTTTTTTTTTT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5	INFO_REALIGN_3_PRIME	chr14	TogoVar
LRGUK_chr7_134122340_134269595	134263403	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02976.hp1 others(3): Show HG02280.hp2 HG02622.hp2 HG02976.hp1 HG03540.hp1 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0003 a0001c0003t0003 a0001c0008t0003	a0001c0003t0003g0200 a0001c0003t0003g0201 a0001c0003t0003g0202 others(3): Show a0001c0003t0003g0200 a0001c0003t0003g0201 a0001c0003t0003g0202 a0001c0008t0003g0010 a0001c0008t0003g0011 a0001c0008t0003g0012	6	220	0.0273	22	c.234 others(39): Show c.2348-429_2348-428insCTGTGTGTGTGTGTGTGTGTGT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	19/19	INFO_REALIGN_3_PRIME	chr7	TogoVar
LRGUK_chr7_134122340_134269595	134263403	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTCTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp1 HG02895.hp1 others(1): Show HG01192.hp2 HG01361.hp1 HG02895.hp1 HG03834.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0004 a0004c0005t0004 a0001c0003t0004 a0004c0005t0004	a0001c0003t0004g0112 a0004c0005t0004g0213 a0004c0005t0004g0214 others(1): Show a0001c0003t0004g0112 a0004c0005t0004g0213 a0004c0005t0004g0214 a0004c0005t0004g0215	4	220	0.0182	22	c.234 others(39): Show c.2348-427_2348-426insGTCTGTGTGTGTGTGTGTGTGT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	19/19	INFO_REALIGN_3_PRIME	chr7	TogoVar
LRIF1_chr1_110942190_110968922	110957470	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp2 HG02257.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0204 a0001c0001t0001g0222	2	446	0.0045	22	c.69- others(37): Show c.69-4677_69-4656dupTTTTTTTTTTTTTTTTTTTTTT	LRIF1	ENSG00000121931.16	transcript	ENST00000369763.5	protein_coding	1/3		chr1	TogoVar
LRIG1_chr3_66373797_66506022	66408913	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0176 a0002c0018t0001g0176	1	264	0.0038	22	c.935 others(39): Show c.935+1194_935+1215dupACACACACACACACACACACAC	LRIG1	ENSG00000144749.14	transcript	ENST00000273261.8	protein_coding	7/18		chr3	TogoVar
LRIT3_chr4_109843107_109877315	109850476	T T	TTTCTTTC others(15): Show TTTCTTTCTTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	332	0.0030	22	c.117 others(39): Show c.117-1015_117-1014insTTCTTTTTCTTCTTTCTTTTCT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr4	TogoVar
LRMDA_chr10_75426624_76565168	75697834	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03195.hp2 HG03098.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0031 a0001c0001t0010g0008 a0001c0001t0001g0031 a0001c0001t0010g0008	2	46	0.0435	22	c.131 others(43): Show c.131+259357_131+259358insTGTGTGTGTGTGTGTGTGTGTG	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6	INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	75697850	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02976.hp1 HG03195.hp1 others(1): Show HG02145.hp2 HG02976.hp1 HG03195.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003	a0001c0001t0006g0009 a0001c0002t0002g0036 a0001c0002t0003g0004 others(1): Show a0001c0001t0006g0009 a0001c0002t0002g0036 a0001c0002t0003g0004 a0001c0002t0003g0030	4	46	0.0870	22	c.131 others(43): Show c.131+259357_131+259358insTGTGTGTGTGTGTGTGTGCGCG	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6	INFO_REALIGN_3_PRIME	chr10	TogoVar

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