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
LDB3_chr10_86663511_86741072	86728586	G G	GTTTTTTT others(6): Show GTTTTTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0018 a0001c0001t0023g0018	1	332	0.0030	13	c.209 others(32): Show c.2094+2344_2094+2345insGTTTTTTTTTTTT	LDB3	ENSG00000122367.21	transcript	ENST00000361373.9	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
LDB3_chr10_86663511_86741072	86728586	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01175.hp1 others(11): Show HG00323.hp2 HG00738.hp1 HG01175.hp1 HG02027.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02895.hp1 HG02976.hp1 HG03486.hp2 HG03579.hp1 NA18969.hp2 NA20300.hp2 NA21309.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0010 a0013	a0001c0001 a0004c0005 a0004c0011 others(3): Show a0001c0001 a0004c0005 a0004c0011 a0005c0010 a0010c0014 a0013c0021	a0001c0001t0010 a0001c0001t0062 a0001c0001t0064 others(9): Show a0001c0001t0010 a0001c0001t0062 a0001c0001t0064 a0001c0001t0083 a0001c0001t0093 a0004c0005t0010 a0004c0005t0025 a0004c0005t0067 a0004c0011t0010 a0005c0010t0010 a0010c0014t0045 a0013c0021t0063	a0001c0001t0010g0022 a0001c0001t0062g0272 a0001c0001t0064g0288 others(11): Show a0001c0001t0010g0022 a0001c0001t0062g0272 a0001c0001t0064g0288 a0001c0001t0083g0142 a0001c0001t0093g0009 a0004c0005t0010g0084 a0004c0005t0010g0277 a0004c0005t0025g0049 a0004c0005t0067g0059 a0004c0011t0010g0048 a0004c0011t0010g0050 a0005c0010t0010g0010 a0010c0014t0045g0065 a0013c0021t0063g0287	14	332	0.0422	13	c.209 others(32): Show c.2094+2345_2094+2346insGTTTTTTTTTTTT	LDB3	ENSG00000122367.21	transcript	ENST00000361373.9	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
LDHAL6A_chr11_18450856_18484601	18464977	G G	GTTTTTTT others(6): Show GTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18953.hp2 NA18965.hp1 others(4): Show HG00438.hp1 NA18953.hp2 NA18965.hp1 NA18992.hp1 NA19065.hp2 NA19075.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0065 a0001c0001t0004 a0001c0001t0065	a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0336 others(4): Show a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0336 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0065g0337	7	420	0.0167	13	c.245 others(28): Show c.245-653_245-652insGTTTTTTTTTTTT	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHAL6A_chr11_18450856_18484601	18464977	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01167.hp1 others(10): Show HG00741.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG02280.hp2 HG02895.hp2 HG02897.hp2 HG03710.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0025 a0001c0001t0038 a0002c0003t0012	a0001c0001t0001g0071 a0001c0001t0004g0332 a0001c0001t0004g0333 others(10): Show a0001c0001t0001g0071 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0352 a0001c0001t0012g0331 a0001c0001t0025g0312 a0001c0001t0025g0314 a0001c0001t0038g0315 a0002c0003t0012g0351 a0002c0003t0012g0359	13	420	0.0310	13	c.245 others(28): Show c.245-651_245-650insTTTTTTTTTTTTT	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHAL6A_chr11_18450856_18484601	18464980	T T	TTTTTGTT others(6): Show TTTTTGTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19055.hp2 NA18955.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	2	420	0.0048	13	c.245 others(28): Show c.245-653_245-652insGTTTTTTTGTTTT	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHA_chr11_18389563_18413425	18398629	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp1 HG03041.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0027	2	390	0.0051	13	c.127 others(28): Show c.127-802_127-801insTTTTTTTTTTTTC	LDHA	ENSG00000134333.15	transcript	ENST00000422447.8	protein_coding	2/7			chr11	TogoVar
LDHA_chr11_18389563_18413425	18401955	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	390	0.0026	13	c.419 others(28): Show c.419-876_419-864dupTTTTTTTTTTTTT	LDHA	ENSG00000134333.15	transcript	ENST00000422447.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHA_chr11_18389563_18413425	18404807	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02965.hp2 HG03942.hp2 HG02074.hp1 HG02965.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0198 a0001c0003t0004g0202 a0001c0003t0004g0211 a0001c0001t0004g0198 a0001c0003t0004g0202 a0001c0003t0004g0211	3	390	0.0077	13	c.711 others(28): Show c.711-632_711-631insAAAAAAAAAAAAA	LDHA	ENSG00000134333.15	transcript	ENST00000422447.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHB_chr12_21630342_21662842	21644438	A A	ACAAAAAA others(6): Show ACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	326	0.0061	13	c.248 others(28): Show c.248-331_248-330insGTTTTTTTTTTTG	LDHB	ENSG00000111716.14	transcript	ENST00000350669.5	protein_coding	3/7			chr12	TogoVar
LDHC_chr11_18407318_18457063	18449428	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0225 a0006c0010t0001g0225	1	348	0.0029	13	c.835 others(30): Show c.835-1514_835-1502dupAAAAAAAAAAAAA	LDHC	ENSG00000166796.12	transcript	ENST00000541669.6	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36054840	A A	AATGGATG others(6): Show AATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01952.hp2 HG01361.hp1 HG01952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0191 a0002c0003t0002g0225 a0001c0001t0002g0191 a0002c0003t0002g0225	2	236	0.0085	13	c.193 others(32): Show c.193+18603_193+18604insGATGGATGGATGG	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36140992	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	236	0.0042	13	c.454 others(32): Show c.454+42531_454+42532insCTCTCTCTCTCTC	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5			chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36234168	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00609.hp2 others(6): Show HG00099.hp1 HG00597.hp2 HG00609.hp2 HG01261.hp2 HG02165.hp2 NA18951.hp1 NA18952.hp1 NA19056.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0071 others(6): Show a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0071 a0001c0001t0003g0082 a0001c0001t0003g0109 a0001c0001t0003g0153 a0001c0002t0003g0077 a0001c0002t0003g0110 a0001c0002t0003g0133	9	236	0.0381	13	c.47 others(24): Show c.4771_*4772insTTTTTTTTTTTTT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding		2033		chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36235685	C C	CACCTCTC others(6): Show CACCTCTCTCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0009 a0003c0005t0004g0009	1	236	0.0042	13	c.62 others(24): Show c.6288_*6289insACCTCTCTCAACA	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding		3550		chr11	TogoVar
LDLRAD4_chr18_13213760_13657751	13226180	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01255.hp2 others(16): Show HG00099.hp1 HG00642.hp2 HG01255.hp2 HG01516.hp2 HG01952.hp2 HG02602.hp2 HG02615.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03195.hp2 HG03453.hp1 NA18522.hp1 NA18945.hp2 NA18980.hp2 NA18984.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0040 a0001c0001t0069	a0001c0001t0001g0013 a0001c0001t0001g0097 a0001c0001t0001g0126 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0097 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0002g0109 a0001c0001t0002g0149 a0001c0001t0003g0002 a0001c0001t0003g0145 a0001c0001t0007g0073 a0001c0001t0007g0142 a0001c0001t0008g0108 a0001c0001t0012g0079 a0001c0001t0013g0143 a0001c0001t0017g0088 a0001c0001t0023g0093 a0001c0001t0027g0069 a0001c0001t0028g0144 a0001c0001t0040g0127 a0001c0001t0069g0172	19	178	0.1067	13	c.-46 others(32): Show c.-467+7201_-467+7213dupTTTTTTTTTTTTT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13337740	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02717.hp1 others(6): Show HG02145.hp2 HG02280.hp2 HG02717.hp1 HG02896.hp2 HG02965.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0030 a0001c0001t0036 a0001c0001t0040 a0001c0002t0014	a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0004g0096 others(6): Show a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0004g0096 a0001c0001t0006g0051 a0001c0001t0018g0081 a0001c0001t0030g0085 a0001c0001t0036g0129 a0001c0001t0040g0127 a0001c0002t0014g0052	9	178	0.0506	13	c.-38 others(34): Show c.-382-49597_-382-49585dupAAAAAAAAAAAAA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13370715	T T	TTTTTTTT others(6): Show TTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02886.hp2 others(1): Show HG02258.hp2 HG02486.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0034 a0001c0001t0056 a0001c0001t0006 a0001c0001t0034 a0001c0001t0056	a0001c0001t0006g0103 a0001c0001t0006g0176 a0001c0001t0034g0102 others(1): Show a0001c0001t0006g0103 a0001c0001t0006g0176 a0001c0001t0034g0102 a0001c0001t0056g0059	4	178	0.0225	13	c.-38 others(34): Show c.-382-16618_-382-16617insGTTTGTTTTTTTT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13370716	T T	TTTTTTTT others(6): Show TTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	178	0.0056	13	c.-38 others(34): Show c.-382-16617_-382-16616insGTTTGTTTTTTTT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13578827	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp2 HG03209.hp1 HG02451.hp1 HG02886.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0001t0034 a0001c0002t0068 a0001c0001t0020 a0001c0001t0034 a0001c0002t0068	a0001c0001t0020g0178 a0001c0001t0034g0102 a0001c0002t0068g0171 a0001c0001t0020g0178 a0001c0001t0034g0102 a0001c0002t0068g0171	3	178	0.0169	13	c.182 others(32): Show c.182-42274_182-42262dupTTTTTTTTTTTTT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13586406	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01981.hp2 HG02895.hp1 others(2): Show HG00558.hp1 HG01981.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0001t0066 others(2): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0066 a0001c0001t0069 a0001c0002t0005	a0001c0001t0003g0034 a0001c0001t0010g0055 a0001c0001t0066g0115 others(2): Show a0001c0001t0003g0034 a0001c0001t0010g0055 a0001c0001t0066g0115 a0001c0001t0069g0172 a0001c0002t0005g0074	5	178	0.0281	13	c.182 others(32): Show c.182-34708_182-34696dupAAAAAAAAAAAAA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13594665	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG02886.hp2 HG02486.hp1 HG02630.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0034 a0001c0001t0002 a0001c0001t0034	a0001c0001t0002g0090 a0001c0001t0002g0101 a0001c0001t0034g0102 a0001c0001t0002g0090 a0001c0001t0002g0101 a0001c0001t0034g0102	3	178	0.0169	13	c.182 others(32): Show c.182-26440_182-26428dupAAAAAAAAAAAAA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13610305	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18948.hp2 NA19060.hp2 HG00597.hp2 NA18948.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0116 a0001c0001t0003g0154 a0001c0001t0013g0169 a0001c0001t0001g0116 a0001c0001t0003g0154 a0001c0001t0013g0169	3	178	0.0169	13	c.182 others(32): Show c.182-10812_182-10811insTTTTTTTTTTTTC	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6			chr18	TogoVar
LDLR_chr19_11084463_11138820	11122395	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02886.hp1 HG02257.hp2 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0009 a0001c0006t0049 a0001c0004t0009 a0001c0006t0049	a0001c0004t0009g0146 a0001c0006t0049g0062 a0001c0004t0009g0146 a0001c0006t0049g0062	2	358	0.0056	13	c.214 others(30): Show c.2141-769_2141-757dupTTTTTTTTTTTTT	LDLR	ENSG00000130164.15	transcript	ENST00000558518.6	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
LDLR_chr19_11084463_11138820	11126380	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02145.hp1 HG02165.hp1 others(14): Show HG00408.hp1 HG02145.hp1 HG02165.hp1 HG02486.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2 HG03130.hp1 NA18939.hp2 NA18945.hp1 NA18951.hp1 NA18952.hp1 NA18964.hp2 NA18986.hp1 NA18989.hp2 NA19007.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0023 others(1): Show a0001c0003 a0001c0004 a0001c0023 a0001c0027	a0001c0003t0003 a0001c0003t0006 a0001c0003t0026 others(4): Show a0001c0003t0003 a0001c0003t0006 a0001c0003t0026 a0001c0003t0058 a0001c0004t0003 a0001c0023t0003 a0001c0027t0003	a0001c0003t0003g0021 a0001c0003t0003g0030 a0001c0003t0003g0032 others(14): Show a0001c0003t0003g0021 a0001c0003t0003g0030 a0001c0003t0003g0032 a0001c0003t0003g0068 a0001c0003t0003g0116 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0205 a0001c0003t0003g0290 a0001c0003t0003g0292 a0001c0003t0003g0295 a0001c0003t0006g0031 a0001c0003t0026g0237 a0001c0003t0058g0293 a0001c0004t0003g0014 a0001c0023t0003g0291 a0001c0027t0003g0275	17	358	0.0475	13	c.231 others(32): Show c.2312-1623_2312-1611dupTTTTTTTTTTTTT	LDLR	ENSG00000130164.15	transcript	ENST00000558518.6	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
LDLR_chr19_11084463_11138820	11134033	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0008 a0001c0001t0021g0008	1	358	0.0028	13	c.27 others(24): Show c.2717_*2718insTTTTTTTTTTTTT	LDLR	ENSG00000130164.15	transcript	ENST00000558518.6	protein_coding		214		chr19	TogoVar
LEMD3_chr12_65164583_65253355	65167942	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02896.hp2 others(2): Show HG02258.hp2 HG02572.hp2 HG02896.hp2 HG02922.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0037 others(2): Show a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0037 a0001c0001t0008g0039 a0001c0001t0008g0040	5	398	0.0126	13	c.-16 others(24): Show c.-1655_-1654insTTTTTTTTTTTTT	LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding		1640		chr12	TogoVar
LEO1_chr15_51933025_51976778	51945262	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02258.hp1 HG02809.hp1 others(2): Show HG01258.hp1 HG02258.hp1 HG02809.hp1 HG04204.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0188 a0001c0001t0001g0236 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0188 a0001c0001t0001g0236 a0001c0001t0001g0249	5	388	0.0129	13	c.189 others(32): Show c.1896+2017_1896+2029dupTTTTTTTTTTTTT	LEO1	ENSG00000166477.13	transcript	ENST00000299601.10	protein_coding	11/11			chr15	TogoVar
LEPROTL1_chr8_30090408_30113524	30112401	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01167.hp2 others(6): Show HG00438.hp1 HG00438.hp2 HG01167.hp2 HG01169.hp1 HG01515.hp1 HG02818.hp1 NA18612.hp1 NA18970.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0012g0152	9	416	0.0216	13	c.65 others(24): Show c.6539_*6540insTTTTTTTTTTTTT	LEPROTL1	ENSG00000104660.19	transcript	ENST00000321250.13	protein_coding		3878		chr8	TogoVar
LEPR_chr1_65415668_65646559	65472411	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0137 a0004c0003t0004g0137	1	216	0.0046	13	c.-21 others(32): Show c.-21+47033_-21+47034insCACACACACACAC	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19			chr1	TogoVar
LEPR_chr1_65415668_65646559	65488137	C C	CTCCTTCC others(6): Show CTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0015 a0003c0011t0015	a0003c0011t0015g0093 a0003c0011t0015g0093	1	216	0.0046	13	c.-21 others(32): Show c.-21+62759_-21+62760insTCCTTCCTTCCTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19			chr1	TogoVar
LEPR_chr1_65415668_65646559	65488222	C C	CTTCTTTC others(6): Show CTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0041 a0003c0004t0041	a0003c0004t0041g0206 a0003c0004t0041g0206	1	216	0.0046	13	c.-21 others(32): Show c.-21+62845_-21+62846insTCTTTCTTTCTTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65558501	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01071.hp1 others(16): Show HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01361.hp1 HG01952.hp1 HG01993.hp1 HG02040.hp1 HG02148.hp1 HG02257.hp1 HG02559.hp1 HG02630.hp2 HG03195.hp1 HG03831.hp1 HG03942.hp2 NA18906.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0001c0009 a0003c0006 others(2): Show a0001c0001 a0001c0009 a0003c0006 a0004c0003 a0009c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0042 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0042 a0001c0001t0043 a0001c0009t0012 a0003c0006t0005 a0004c0003t0004 a0004c0003t0014 a0009c0018t0004	a0001c0001t0002g0148 a0001c0001t0002g0161 a0001c0001t0002g0203 others(16): Show a0001c0001t0002g0148 a0001c0001t0002g0161 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0003g0006 a0001c0001t0003g0061 a0001c0001t0003g0064 a0001c0001t0003g0100 a0001c0001t0042g0160 a0001c0001t0043g0174 a0001c0009t0012g0112 a0003c0006t0005g0109 a0003c0006t0005g0130 a0003c0006t0005g0173 a0004c0003t0004g0110 a0004c0003t0004g0111 a0004c0003t0004g0164 a0004c0003t0014g0086 a0009c0018t0004g0107	19	216	0.0880	13	c.-20 others(30): Show c.-20-7042_-20-7030dupTTTTTTTTTTTTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65598095	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp2 HG02129.hp1 others(18): Show HG01167.hp1 HG01433.hp2 HG02129.hp1 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03942.hp1 NA18906.hp1 NA18960.hp1 NA19030.hp2 NA19043.hp2 NA19066.hp1 NA20905.hp2	a0003 a0005 a0009 a0003 a0005 a0009	a0003c0004 a0003c0005 a0003c0011 others(3): Show a0003c0004 a0003c0005 a0003c0011 a0005c0007 a0005c0012 a0009c0018	a0003c0004t0006 a0003c0004t0008 a0003c0005t0007 others(5): Show a0003c0004t0006 a0003c0004t0008 a0003c0005t0007 a0003c0011t0019 a0005c0007t0002 a0005c0007t0003 a0005c0012t0002 a0009c0018t0004	a0003c0004t0006g0003 a0003c0004t0006g0005 a0003c0004t0006g0042 others(18): Show a0003c0004t0006g0003 a0003c0004t0006g0005 a0003c0004t0006g0042 a0003c0004t0006g0043 a0003c0004t0006g0077 a0003c0004t0006g0082 a0003c0004t0008g0155 a0003c0005t0007g0195 a0003c0011t0019g0192 a0005c0007t0002g0108 a0005c0007t0002g0186 a0005c0007t0003g0027 a0005c0007t0003g0063 a0005c0007t0003g0092 a0005c0007t0003g0098 a0005c0007t0003g0099 a0005c0007t0003g0101 a0005c0012t0002g0172 a0005c0012t0002g0176 a0005c0012t0002g0177 a0009c0018t0004g0107	21	216	0.0972	13	c.850 others(28): Show c.850-557_850-545dupTTTTTTTTTTTTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LETM1_chr4_1806479_1861156	1860697	A A	ATATATAT others(6): Show ATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0015 a0001c0013t0015	a0001c0013t0015g0011 a0001c0013t0015g0011	1	200	0.0050	13	c.-47 others(24): Show c.-4748_-4747insAAAAATATATATA	LETM1	ENSG00000168924.15	transcript	ENST00000302787.3	protein_coding		4542		chr4	TogoVar
LGALS4_chr19_38796674_38817945	38805166	A A	AAATTAAT others(6): Show AAATTAATAATAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02738.hp2 HG02109.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0209 a0001c0001t0001g0063 a0001c0001t0001g0209	2	426	0.0047	13	c.475 others(30): Show c.475-1272_475-1271insATTATTATTAATT	LGALS4	ENSG00000171747.9	transcript	ENST00000307751.9	protein_coding	4/9			chr19	TogoVar
LGALS8_chr1_236518982_236557981	236528546	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0099 a0004c0005t0006g0099	1	450	0.0022	13	c.45+ others(28): Show c.45+2442_45+2454dupTTTTTTTTTTTTT	LGALS8	ENSG00000116977.19	transcript	ENST00000366584.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGALS8_chr1_236518982_236557981	236537021	C C	CTTTTTTT others(6): Show CTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02738.hp1 NA18979.hp2 others(4): Show HG01928.hp1 HG02738.hp1 NA18979.hp2 NA18989.hp2 NA19001.hp1 NA19057.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 a0001c0001t0031	a0001c0001t0001g0040 a0001c0001t0001g0178 a0001c0001t0001g0185 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0010g0175 a0001c0001t0016g0040 a0001c0001t0016g0139 a0001c0001t0031g0156	7	450	0.0156	13	c.46- others(26): Show c.46-468_46-467insGTTTTTTTTTTTT	LGALS8	ENSG00000116977.19	transcript	ENST00000366584.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGALS8_chr1_236518982_236557981	236537021	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01109.hp1 others(19): Show HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01891.hp1 HG02109.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03942.hp2 NA18972.hp1 NA19083.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0018 a0001c0004t0008 others(4): Show a0001c0001t0001 a0001c0001t0018 a0001c0004t0008 a0001c0004t0009 a0001c0004t0011 a0001c0008t0001 a0001c0009t0033	a0001c0001t0001g0055 a0001c0001t0001g0274 a0001c0001t0018g0042 others(15): Show a0001c0001t0001g0055 a0001c0001t0001g0274 a0001c0001t0018g0042 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0008g0112 a0001c0004t0008g0113 a0001c0004t0008g0114 a0001c0004t0008g0256 a0001c0004t0008g0257 a0001c0004t0009g0016 a0001c0004t0009g0061 a0001c0004t0009g0062 a0001c0004t0009g0064 a0001c0004t0011g0034 a0001c0004t0011g0120 a0001c0008t0001g0055 a0001c0009t0033g0282	22	450	0.0489	13	c.46- others(26): Show c.46-475_46-463dupTTTTTTTTTTTTT	LGALS8	ENSG00000116977.19	transcript	ENST00000366584.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGALS8_chr1_236518982_236557981	236538101	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG03209.hp1 others(3): Show HG02451.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0012 a0001c0004t0013 a0001c0004t0026 others(1): Show a0001c0004t0012 a0001c0004t0013 a0001c0004t0026 a0001c0010t0013	a0001c0004t0012g0203 a0001c0004t0012g0206 a0001c0004t0013g0105 others(3): Show a0001c0004t0012g0203 a0001c0004t0012g0206 a0001c0004t0013g0105 a0001c0004t0013g0116 a0001c0004t0026g0033 a0001c0010t0013g0033	6	450	0.0133	13	c.134 others(28): Show c.134+519_134+520insAAAAAAAAAGAAA	LGALS8	ENSG00000116977.19	transcript	ENST00000366584.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGI1_chr10_93752936_93803159	93766512	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(45): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01257.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG02155.hp2 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03579.hp2 NA18906.hp1 NA18939.hp2 NA18946.hp2 NA18954.hp1 NA18981.hp1 NA18984.hp1 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19083.hp1 NA19084.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0035 others(43): Show a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0002g0087 a0001c0002t0001g0054 a0001c0002t0001g0302 a0001c0006t0001g0289	48	376	0.1277	13	c.287 others(30): Show c.287+7691_287+7692insTTTTTTTTTTTTT	LGI1	ENSG00000108231.14	transcript	ENST00000371418.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LGI1_chr10_93752936_93803159	93800615	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02723.hp1 HG02886.hp2 others(2): Show HG01346.hp1 HG02723.hp1 HG02886.hp2 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0072 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0194 a0001c0001t0001g0311	5	376	0.0133	13	c.28 others(24): Show c.2812_*2813insTTTTTTTTTTTTT	LGI1	ENSG00000108231.14	transcript	ENST00000371418.9	protein_coding		2457		chr10	TogoVar
LGMN_chr14_92698809_92753627	92698921	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01192.hp1 others(37): Show HG00597.hp2 HG00621.hp1 HG01192.hp1 HG01358.hp2 HG02027.hp1 HG02135.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG04115.hp2 NA18939.hp1 NA18953.hp1 NA18959.hp2 NA18963.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18989.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19010.hp2 NA19054.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19085.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0014 a0002c0005 a0002c0015 a0006c0010	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0008t0001 a0001c0014t0001 a0002c0005t0001 a0002c0015t0003 a0006c0010t0003	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0047 others(37): Show a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0001g0259 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0311 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0336 a0001c0001t0001g0393 a0001c0001t0001g0395 a0001c0001t0001g0399 a0001c0001t0001g0407 a0001c0001t0001g0411 a0001c0001t0007g0215 a0001c0002t0001g0092 a0001c0002t0001g0310 a0001c0008t0001g0030 a0001c0008t0001g0034 a0001c0014t0001g0026 a0002c0005t0001g0097 a0002c0015t0003g0033 a0006c0010t0003g0027 a0006c0010t0003g0091	40	420	0.0952	13	c.53 others(24): Show c.5397_*5398insAAAAAAAAAAAAA	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding		4887		chr14	TogoVar
LGMN_chr14_92698809_92753627	92708856	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp2 HG04199.hp1 others(1): Show HG01928.hp1 HG01928.hp2 HG04199.hp1 NA18943.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0226 a0001c0002t0001g0270 a0001c0002t0001g0410 others(1): Show a0001c0002t0001g0226 a0001c0002t0001g0270 a0001c0002t0001g0410 a0002c0005t0001g0200	4	420	0.0095	13	c.102 others(30): Show c.1020+803_1020+815dupTTTTTTTTTTTTT	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	11/13			chr14	TogoVar
LHCGR_chr2_48681774_48760724	48752991	G G	GGGTGGGG others(6): Show GGGTGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0297 a0002c0002t0001g0297	1	374	0.0027	13	c.161 others(30): Show c.161+2519_161+2520insACCCCACCCCACC	LHCGR	ENSG00000138039.15	transcript	ENST00000294954.12	protein_coding	1/10			chr2	TogoVar
LHFPL2_chr5_78480230_78653772	78490746	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19240.hp1 HG02615.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0024 a0001c0001t0007 a0001c0001t0024	a0001c0001t0007g0222 a0001c0001t0024g0163 a0001c0001t0007g0222 a0001c0001t0024g0163	2	254	0.0079	13	c.431 others(30): Show c.431-1606_431-1594dupTTTTTTTTTTTTT	LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding	4/4			chr5	TogoVar
LHFPL2_chr5_78480230_78653772	78584993	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	254	0.0039	13	c.-24 others(34): Show c.-244-20123_-244-20122insAAAAAAAAAAAAA	LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding	2/4			chr5	TogoVar
LHFPL3_chr7_104323603_104913561	104365787	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03239.hp2 NA18947.hp1 others(1): Show HG02056.hp1 HG03239.hp2 NA18947.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0026 a0001c0001t0003g0025 a0001c0001t0003g0029 others(1): Show a0001c0001t0002g0026 a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0004g0027	4	86	0.0465	13	c.445 others(32): Show c.445+36569_445+36581dupAAAAAAAAAAAAA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104365787	C C	CCAAAAAA others(6): Show CCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	1	86	0.0116	13	c.445 others(32): Show c.445+36563_445+36564insCAAAAAAAAAAAA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2			chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104408864	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	86	0.0116	13	c.445 others(32): Show c.445+79646_445+79658dupTTTTTTTTTTTTT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104424983	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02897.hp1 HG00639.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0050 a0001c0001t0003g0070 a0001c0001t0002g0050 a0001c0001t0003g0070	2	86	0.0233	13	c.445 others(32): Show c.445+95769_445+95781dupAAAAAAAAAAAAA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar

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