Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LAMA3_chr18_23868020_23960066	23916005	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02145.hp1 others(3): Show HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02486.hp1 HG02559.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0260 others(3): Show a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264	6	334	0.0180	13	c.295 others(30): Show c.2952-546_2952-545insAAAAAAAAAAAAA	LAMA3	ENSG00000053747.17	transcript	ENST00000269217.11	protein_coding	22/37			chr18	TogoVar
LAMA3_chr18_23868020_23960066	23959486	A A	ACCCCCCC others(6): Show ACCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	334	0.0030	13	c.48 others(24): Show c.4838_*4839insCCCCCCCCCCCCC	LAMA3	ENSG00000053747.17	transcript	ENST00000269217.11	protein_coding		4421		chr18	TogoVar
LAMA4_chr6_112102931_112259567	112190930	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19005.hp2 NA19077.hp2 HG02055.hp1 NA19005.hp2 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0011 a0004c0007 a0001c0011 a0004c0007	a0001c0011t0003 a0004c0007t0001 a0001c0011t0003 a0004c0007t0001	a0001c0011t0003g0009 a0004c0007t0001g0267 a0004c0007t0001g0269 a0001c0011t0003g0009 a0004c0007t0001g0267 a0004c0007t0001g0269	3	314	0.0096	13	c.718 others(28): Show c.718+693_718+705dupGAAAGAAAGAAAG	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190944	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0032 a0003c0004t0001g0032	1	314	0.0032	13	c.718 others(28): Show c.718+691_718+692insGAAAGAAAGAAAG	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190955	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp2 HG03453.hp2 HG06807.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0023 a0002c0006t0002g0199 a0002c0006t0002g0023 a0002c0006t0002g0199	2	314	0.0064	13	c.718 others(28): Show c.718+668_718+680dupGAAAGAAAGAAAG	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190959	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0001 a0001c0054t0001	a0001c0054t0001g0301 a0001c0054t0001g0301	1	314	0.0032	13	c.718 others(28): Show c.718+664_718+676dupGAAAGAAAGAAAG	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190988	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	314	0.0032	13	c.718 others(28): Show c.718+647_718+648insAGAAAGAAAGAAA	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA5_chr20_62304065_62372312	62317902	G G	GGGAGGGG others(6): Show GGGAGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0092 a0092	a0092c0023 a0092c0023	a0092c0023t0001 a0092c0023t0001	a0092c0023t0001g0009 a0092c0023t0001g0009	1	186	0.0054	13	c.724 others(30): Show c.7240-125_7240-124insTCCCCCCCCCTCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62334753	C C	CAGGGCTC others(6): Show CAGGGCTCAGGGCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02451.hp1 others(5): Show HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02630.hp1 HG03017.hp1 HG03453.hp2 HG04115.hp1 NA19012.hp2	a0001 a0007 a0028 others(5): Show a0001 a0007 a0028 a0068 a0086 a0087 a0088 a0090	a0001c0001 a0007c0043 a0028c0055 others(5): Show a0001c0001 a0007c0043 a0028c0055 a0068c0072 a0086c0030 a0087c0031 a0088c0032 a0090c0066	a0001c0001t0001 a0007c0043t0001 a0028c0055t0001 others(5): Show a0001c0001t0001 a0007c0043t0001 a0028c0055t0001 a0068c0072t0001 a0086c0030t0001 a0087c0031t0001 a0088c0032t0001 a0090c0066t0001	a0001c0001t0001g0115 a0007c0043t0001g0173 a0028c0055t0001g0034 others(5): Show a0001c0001t0001g0115 a0007c0043t0001g0173 a0028c0055t0001g0034 a0068c0072t0001g0159 a0086c0030t0001g0177 a0087c0031t0001g0179 a0088c0032t0001g0178 a0090c0066t0001g0019	8	186	0.0430	13	c.248 others(30): Show c.2483-133_2483-132insCGCCCTGAGCCCT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	20/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62343774	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00597.hp2 others(16): Show HG00099.hp2 HG00140.hp2 HG00597.hp2 HG00642.hp1 HG01346.hp2 HG01496.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02129.hp2 HG02257.hp2 HG02280.hp1 HG02615.hp1 HG02723.hp1 HG03654.hp2 HG04228.hp2 NA19043.hp1 NA21309.hp1	a0000 a0002 a0012 others(11): Show a0000 a0002 a0012 a0018 a0019 a0020 a0023 a0048 a0050 a0052 a0054 a0057 a0059 a0092	a0000c0113 a0002c0012 a0002c0125 others(13): Show a0000c0113 a0002c0012 a0002c0125 a0012c0021 a0018c0116 a0019c0022 a0020c0051 a0020c0053 a0023c0054 a0048c0046 a0050c0114 a0052c0118 a0054c0045 a0057c0052 a0059c0123 a0092c0023	a0000c0113t0001 a0002c0012t0001 a0002c0125t0001 others(13): Show a0000c0113t0001 a0002c0012t0001 a0002c0125t0001 a0012c0021t0001 a0018c0116t0001 a0019c0022t0001 a0020c0051t0001 a0020c0053t0001 a0023c0054t0001 a0048c0046t0001 a0050c0114t0005 a0052c0118t0001 a0054c0045t0001 a0057c0052t0001 a0059c0123t0001 a0092c0023t0001	a0000c0113t0001g0078 a0002c0012t0001g0015 a0002c0012t0001g0075 others(16): Show a0000c0113t0001g0078 a0002c0012t0001g0015 a0002c0012t0001g0075 a0002c0012t0001g0164 a0002c0125t0001g0027 a0012c0021t0001g0073 a0012c0021t0001g0082 a0018c0116t0001g0070 a0019c0022t0001g0156 a0020c0051t0001g0062 a0020c0053t0001g0063 a0023c0054t0001g0059 a0048c0046t0001g0091 a0050c0114t0005g0079 a0052c0118t0001g0074 a0054c0045t0001g0024 a0057c0052t0001g0017 a0059c0123t0001g0025 a0092c0023t0001g0009	19	186	0.1022	13	c.147 others(32): Show c.1477+2031_1477+2043dupTTTTTTTTTTTTT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	11/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360491	G G	GGTGGAGG others(6): Show GGTGGAGGGATAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0064 a0003c0064	a0003c0064t0001 a0003c0064t0001	a0003c0064t0001g0084 a0003c0064t0001g0084	1	186	0.0054	13	c.450 others(30): Show c.450+1908_450+1909insTCTATCCCTCCAC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMB1_chr7_107918799_108008161	107923500	C C	CTTACAGG others(6): Show CTTACAGGAGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	364	0.0028	13	c.43 others(22): Show c.438_*450dupAAAACTCCTGTAA	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding		298		chr7	TogoVar
LAMB1_chr7_107918799_108008161	108005762	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0171 a0003c0004t0001g0171	1	364	0.0028	13	c.-27 others(24): Show c.-2739_-2738insTTTTTTTTTTTTT	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding		2602		chr7	TogoVar
LAMB2_chr3_49116114_49138050	49134184	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp2 others(32): Show HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01975.hp2 HG02055.hp1 HG02056.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp2 HG02738.hp1 HG03017.hp2 HG03195.hp2 HG03471.hp1 HG03579.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18940.hp1 NA18971.hp2 NA19002.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0003c0005 a0005c0006	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0003c0005t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0007t0001g0013 a0002c0002t0001g0003 a0002c0002t0001g0010 a0003c0005t0001g0006 a0005c0006t0001g0012	35	294	0.1191	13	c.-13 others(24): Show c.-1318_-1317insAAAAAAAAAAAAA	LAMB2	ENSG00000172037.14	transcript	ENST00000305544.9	protein_coding		1135		chr3	TogoVar
LAMC1_chr1_183018420_183150592	183131426	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	308	0.0033	13	c.356 others(28): Show c.3566+48_3566+49insTGTGTGTGTGTGT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	20/27			chr1	TogoVar
LAMC1_chr1_183018420_183150592	183131462	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	308	0.0033	13	c.356 others(28): Show c.3566+84_3566+85insGTGTGTGTGTGTG	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	20/27			chr1	TogoVar
LAMC1_chr1_183018420_183150592	183140245	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp1 HG00738.hp2 others(5): Show HG00423.hp1 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01358.hp2 HG02109.hp1 HG02148.hp2 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0034 a0002c0006	a0001c0002t0002 a0001c0003t0003 a0001c0005t0004 others(2): Show a0001c0002t0002 a0001c0003t0003 a0001c0005t0004 a0001c0034t0002 a0002c0006t0004	a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0032 others(5): Show a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0032 a0001c0002t0002g0040 a0001c0003t0003g0262 a0001c0005t0004g0104 a0001c0034t0002g0087 a0002c0006t0004g0110	8	308	0.0260	13	c.447 others(30): Show c.4474-151_4474-139dupAAAAAAAAAAAAA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC3_chr9_131004174_131099473	131022215	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0055 a0055	a0055c0207 a0055c0207	a0055c0207t0001 a0055c0207t0001	a0055c0207t0001g0356 a0055c0207t0001g0356	1	360	0.0028	13	c.374 others(30): Show c.374-4070_374-4069insCACACACACACAC	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	1/27			chr9	TogoVar
LAMC3_chr9_131004174_131099473	131041366	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG01891.hp2 others(7): Show HG01109.hp1 HG01168.hp1 HG01891.hp2 HG02145.hp1 HG02809.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp1 HG03490.hp2 NA18962.hp2	a0004 a0022 a0025 others(7): Show a0004 a0022 a0025 a0050 a0054 a0079 a0083 a0090 a0091 a0094	a0004c0007 a0022c0024 a0025c0222 others(7): Show a0004c0007 a0022c0024 a0025c0222 a0050c0128 a0054c0205 a0079c0064 a0083c0212 a0090c0107 a0091c0106 a0094c0109	a0004c0007t0003 a0022c0024t0001 a0025c0222t0007 others(7): Show a0004c0007t0003 a0022c0024t0001 a0025c0222t0007 a0050c0128t0024 a0054c0205t0007 a0079c0064t0043 a0083c0212t0004 a0090c0107t0038 a0091c0106t0025 a0094c0109t0002	a0004c0007t0003g0326 a0022c0024t0001g0272 a0025c0222t0007g0041 others(7): Show a0004c0007t0003g0326 a0022c0024t0001g0272 a0025c0222t0007g0041 a0050c0128t0024g0065 a0054c0205t0007g0359 a0079c0064t0043g0220 a0083c0212t0004g0037 a0090c0107t0038g0003 a0091c0106t0025g0001 a0094c0109t0002g0347	10	360	0.0278	13	c.128 others(30): Show c.1284-262_1284-261insAAAAAAAAAAAAA	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMC3_chr9_131004174_131099473	131047165	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0016 a0016	a0016c0191 a0016c0191	a0016c0191t0002 a0016c0191t0002	a0016c0191t0002g0099 a0016c0191t0002g0099	1	360	0.0028	13	c.151 others(32): Show c.1519+1510_1519+1522dupTTTTTTTTTTTTT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMC3_chr9_131004174_131099473	131086575	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(57): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01516.hp1 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02080.hp2 HG02083.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02896.hp1 HG03017.hp2 HG03471.hp2 HG03540.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp2 NA18951.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18980.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19010.hp1 NA19065.hp1 NA19070.hp1 NA19079.hp2 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0002 a0004 a0008 others(23): Show a0002 a0004 a0008 a0009 a0010 a0012 a0015 a0018 a0023 a0024 a0031 a0034 a0035 a0043 a0044 a0046 a0052 a0053 a0057 a0063 a0067 a0074 a0077 a0078 a0100 a0108	a0002c0010 a0002c0021 a0002c0051 others(38): Show a0002c0010 a0002c0021 a0002c0051 a0002c0133 a0004c0007 a0004c0016 a0004c0029 a0004c0175 a0008c0055 a0008c0179 a0009c0005 a0009c0042 a0009c0046 a0009c0132 a0010c0003 a0012c0125 a0012c0150 a0015c0080 a0018c0006 a0018c0169 a0023c0034 a0023c0070 a0024c0044 a0031c0019 a0034c0220 a0035c0058 a0043c0033 a0044c0067 a0044c0075 a0046c0118 a0046c0129 a0052c0218 a0053c0206 a0057c0210 a0063c0190 a0067c0194 a0074c0167 a0077c0170 a0078c0154 a0100c0096 a0108c0090	a0002c0010t0002 a0002c0021t0002 a0002c0051t0002 others(42): Show a0002c0010t0002 a0002c0021t0002 a0002c0051t0002 a0002c0133t0002 a0004c0007t0003 a0004c0007t0018 a0004c0016t0003 a0004c0016t0017 a0004c0029t0003 a0004c0175t0003 a0008c0055t0002 a0008c0179t0002 a0009c0005t0003 a0009c0042t0011 a0009c0046t0003 a0009c0132t0029 a0010c0003t0002 a0012c0125t0002 a0012c0150t0002 a0015c0080t0002 a0018c0006t0003 a0018c0006t0017 a0018c0006t0044 a0018c0169t0003 a0023c0034t0002 a0023c0070t0027 a0024c0044t0003 a0031c0019t0004 a0034c0220t0002 a0035c0058t0002 a0043c0033t0003 a0044c0067t0003 a0044c0075t0003 a0046c0118t0005 a0046c0129t0005 a0052c0218t0009 a0053c0206t0002 a0057c0210t0002 a0063c0190t0002 a0067c0194t0009 a0074c0167t0005 a0077c0170t0037 a0078c0154t0003 a0100c0096t0003 a0108c0090t0002	a0002c0010t0002g0151 a0002c0010t0002g0226 a0002c0021t0002g0156 others(57): Show a0002c0010t0002g0151 a0002c0010t0002g0226 a0002c0021t0002g0156 a0002c0051t0002g0059 a0002c0133t0002g0170 a0004c0007t0003g0300 a0004c0007t0003g0325 a0004c0007t0003g0326 a0004c0007t0003g0335 a0004c0007t0018g0338 a0004c0016t0003g0299 a0004c0016t0003g0311 a0004c0016t0017g0286 a0004c0029t0003g0263 a0004c0029t0003g0278 a0004c0175t0003g0093 a0008c0055t0002g0094 a0008c0179t0002g0096 a0009c0005t0003g0145 a0009c0005t0003g0161 a0009c0005t0003g0183 a0009c0005t0003g0202 a0009c0005t0003g0229 a0009c0042t0011g0015 a0009c0046t0003g0141 a0009c0046t0003g0188 a0009c0132t0029g0140 a0010c0003t0002g0177 a0010c0003t0002g0187 a0010c0003t0002g0231 a0012c0125t0002g0132 a0012c0150t0002g0070 a0015c0080t0002g0198 a0018c0006t0003g0332 a0018c0006t0003g0333 a0018c0006t0017g0281 a0018c0006t0044g0265 a0018c0169t0003g0277 a0023c0034t0002g0112 a0023c0070t0027g0069 a0024c0044t0003g0109 a0031c0019t0004g0209 a0034c0220t0002g0032 a0035c0058t0002g0352 a0035c0058t0002g0353 a0043c0033t0003g0085 a0044c0067t0003g0261 a0044c0075t0003g0115 a0046c0118t0005g0203 a0046c0129t0005g0019 a0052c0218t0009g0049 a0053c0206t0002g0358 a0057c0210t0002g0354 a0063c0190t0002g0312 a0067c0194t0009g0343 a0074c0167t0005g0297 a0077c0170t0037g0089 a0078c0154t0003g0218 a0100c0096t0003g0080 a0108c0090t0002g0051	60	360	0.1667	13	c.423 others(30): Show c.4230+864_4230+865insTTTTTTTTTTTTT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP1_chr13_113292239_113328672	113301858	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02080.hp2 NA18947.hp2 others(1): Show HG02015.hp2 HG02080.hp2 NA18947.hp2 NA19010.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0002 a0005c0007t0002 a0002c0002t0002 a0005c0007t0002	a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0035 others(1): Show a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0035 a0005c0007t0002g0040	4	354	0.0113	13	c.61+ others(28): Show c.61+4373_61+4385dupTTTTTTTTTTTTT	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP3_chr3_183117215_183167734	183150565	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	372	0.0027	13	c.888 others(30): Show c.888+1797_888+1809dupAAAAAAAAAAAAA	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LANCL1_chr2_210426251_210481759	210464982	A A	AAAACAAC others(6): Show AAAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(136): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03239.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0007 a0001c0001 a0001c0004 a0003c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0004t0003 a0003c0007t0003	a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0018 others(93): Show a0001c0001t0003g0003 a0001c0001t0003g0013 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0084 a0001c0001t0003g0091 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0113 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0004g0001 a0001c0001t0004g0006 a0001c0001t0004g0010 a0001c0001t0004g0012 a0001c0001t0004g0017 a0001c0001t0004g0048 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0071 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0097 a0001c0001t0004g0114 a0001c0001t0004g0118 a0001c0001t0004g0128 a0001c0001t0007g0007 a0001c0001t0009g0016 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0013g0011 a0001c0001t0015g0100 a0001c0001t0015g0101 a0001c0001t0018g0080 a0001c0004t0003g0112 a0001c0004t0003g0115 a0003c0007t0003g0125	139	358	0.3883	13	c.199 others(30): Show c.199+6976_199+6977insGTTGTTGTTGTTT	LANCL1	ENSG00000115365.13	transcript	ENST00000450366.7	protein_coding	3/9			chr2	TogoVar
LANCL1_chr2_210426251_210481759	210464982	A A	ACAACAAC others(6): Show ACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	358	0.0028	13	c.199 others(30): Show c.199+6976_199+6977insGTTGTTGTTGTTG	LANCL1	ENSG00000115365.13	transcript	ENST00000450366.7	protein_coding	3/9			chr2	TogoVar
LANCL1_chr2_210426251_210481759	210464983	A A	AAAAACAA others(6): Show AAAAACAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01934.hp1 HG03927.hp2 others(1): Show HG00438.hp1 HG01934.hp1 HG03927.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0171 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0171 a0001c0001t0001g0181	4	358	0.0112	13	c.199 others(30): Show c.199+6975_199+6976insGTTTTTTTGTTTT	LANCL1	ENSG00000115365.13	transcript	ENST00000450366.7	protein_coding	3/9			chr2	TogoVar
LANCL3_chrX_37566661_37689463	37574054	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02109.hp2 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0178 a0001c0004t0009g0179 a0001c0004t0009g0178 a0001c0004t0009g0179	2	201	0.0100	13	c.573 others(30): Show c.573+1620_573+1632dupAAAAAAAAAAAAA	LANCL3	ENSG00000147036.12	transcript	ENST00000378619.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(6): Show TATATATATATGTA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18998.hp2 NA19056.hp1 HG03831.hp2 NA18998.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0016 a0001c0001t0011g0218 a0001c0001t0004g0016 a0001c0001t0011g0218	3	300	0.0100	13	c.218 others(28): Show c.218+246_218+247insATATATATATGTA	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12			chr4	TogoVar
LAPTM4B_chr8_97770788_97858013	97781278	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp2 HG02109.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0004 a0001c0001t0005g0007 a0001c0001t0002g0004 a0001c0001t0005g0007	2	380	0.0053	13	c.99+ others(28): Show c.99+5179_99+5191dupTTTTTTTTTTTTT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97800484	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0123 a0001c0001t0036g0123	1	380	0.0026	13	c.100 others(30): Show c.100-4854_100-4842dupTTTTTTTTTTTTT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33333013	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01346.hp1 HG01891.hp1 others(7): Show HG01192.hp1 HG01346.hp1 HG01891.hp1 HG02280.hp2 HG02647.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG03579.hp1 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0010 a0005c0011 a0001c0001 a0002c0010 a0005c0011	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0030 a0001c0001t0033 a0002c0010t0008 a0005c0011t0001	a0001c0001t0001g0031 a0001c0001t0006g0007 a0001c0001t0006g0011 others(7): Show a0001c0001t0001g0031 a0001c0001t0006g0007 a0001c0001t0006g0011 a0001c0001t0006g0052 a0001c0001t0006g0081 a0001c0001t0007g0070 a0001c0001t0030g0106 a0001c0001t0033g0110 a0002c0010t0008g0054 a0005c0011t0001g0082	10	110	0.0909	13	c.128 others(32): Show c.1287+4632_1287+4633insAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	10/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33437612	G G	GTCCTACA others(6): Show GTCCTACACTCTGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0065 a0001c0001t0006g0065	1	110	0.0091	13	c.788 others(30): Show c.788-5360_788-5348dupGCAGAGTGTAGGA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33441071	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG01243.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0004 a0001c0001t0004 a0001c0006t0004	a0001c0001t0004g0017 a0001c0006t0004g0064 a0001c0001t0004g0017 a0001c0006t0004g0064	2	110	0.0182	13	c.788 others(30): Show c.788-8819_788-8807dupAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33642710	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02647.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0030 a0001c0002t0001g0013 a0001c0001t0004g0030 a0001c0002t0001g0013	2	110	0.0182	13	c.408 others(30): Show c.408+7644_408+7656dupTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	3/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33651225	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG03098.hp2 others(1): Show HG02717.hp2 HG02723.hp1 HG03098.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0007 a0001c0003t0009 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0009 a0001c0007t0010	a0001c0001t0001g0009 a0001c0001t0007g0066 a0001c0003t0009g0016 others(1): Show a0001c0001t0001g0009 a0001c0001t0007g0066 a0001c0003t0009g0016 a0001c0007t0010g0006	4	110	0.0364	13	c.107 others(28): Show c.107-570_107-558dupTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33878129	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG04228.hp2 HG01243.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0050 a0001c0001t0004g0017 a0001c0001t0003g0050 a0001c0001t0004g0017	2	110	0.0182	13	c.-83 others(32): Show c.-83+41853_-83+41865dupAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128065323	C C	CCTTTCTT others(6): Show CCTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	336	0.0030	13	c.-78 others(30): Show c.-78+3922_-78+3923insCTTTCTTTTCTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	1/19			chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098767	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01981.hp1 HG02622.hp1 others(3): Show HG01070.hp2 HG01981.hp1 HG02622.hp1 HG02896.hp1 HG03041.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0016 a0002c0002t0002 a0002c0002t0016	a0002c0002t0002g0015 a0002c0002t0002g0044 a0002c0002t0002g0045 others(3): Show a0002c0002t0002g0015 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0049 a0002c0002t0002g0082 a0002c0002t0016g0064	6	336	0.0179	13	c.813 others(28): Show c.813+438_813+439insATATATATATATT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098767	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01516.hp1 HG01517.hp1 others(3): Show HG00423.hp1 HG01516.hp1 HG01517.hp1 HG02559.hp2 NA18954.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0055 a0002c0002t0002g0072 others(3): Show a0002c0002t0002g0017 a0002c0002t0002g0055 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0292 a0002c0002t0002g0294	6	336	0.0179	13	c.813 others(28): Show c.813+438_813+439insATATATATATTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098767	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0330 a0002c0002t0002g0330	1	336	0.0030	13	c.813 others(28): Show c.813+438_813+439insATATATATTTTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19056.hp2 NA19081.hp1 NA19007.hp1 NA19056.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0296 a0002c0002t0002g0307 a0002c0002t0002g0331 a0002c0002t0002g0296 a0002c0002t0002g0307 a0002c0002t0002g0331	3	336	0.0089	13	c.988 others(30): Show c.988+3368_988+3380dupAAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128129164	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19057.hp2 HG03834.hp1 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0090 a0002c0002t0002g0284 a0002c0002t0002g0090 a0002c0002t0002g0284	2	336	0.0060	13	c.152 others(32): Show c.1524+7004_1524+7016dupAAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4B_chr10_804497_936705	833249	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0226 a0001c0001t0006g0226	1	288	0.0035	13	c.751 others(30): Show c.751-2285_751-2273dupTTTTTTTTTTTTT	LARP4B	ENSG00000107929.16	transcript	ENST00000316157.8	protein_coding	8/17			chr10	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA19055.hp1 HG00738.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0315 a0001c0001t0022g0002 a0001c0001t0001g0315 a0001c0001t0022g0002	2	318	0.0063	13	c.804 others(30): Show c.804+4787_804+4788insATATATATATATT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	318	0.0031	13	c.804 others(30): Show c.804+4787_804+4788insATATATATATTTT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446430	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	318	0.0031	13	c.804 others(30): Show c.804+4787_804+4788insATATATATATATA	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15			chr12	TogoVar
LARS2_chr3_45383576_45554407	45484618	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19074.hp1 NA18972.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0061 a0001c0002t0001g0046 a0001c0002t0001g0061	2	242	0.0083	13	c.101 others(32): Show c.1019-1074_1019-1073insTATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484622	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1 HG02630.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001	a0001c0002t0001g0108 a0001c0002t0003g0141 a0001c0004t0001g0078 a0001c0002t0001g0108 a0001c0002t0003g0141 a0001c0004t0001g0078	3	242	0.0124	13	c.101 others(32): Show c.1019-1070_1019-1069insTATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LASP1NB_chr17_38920614_38934381	38933497	A A	AGAGGTTA others(6): Show AGAGGTTAGTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	422	0.0024	13	c.72 others(24): Show c.7201_*7202insGAGGTTAGTGTTT	LASP1NB	ENSG00000263874.3	transcript	ENST00000583195.3	protein_coding		4117		chr17	TogoVar
LASP1_chr17_38865058_38926770	38899747	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02965.hp1 HG03041.hp1 others(2): Show HG00673.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0010t0013	a0001c0001t0002g0189 a0001c0001t0009g0097 a0001c0001t0009g0323 others(2): Show a0001c0001t0002g0189 a0001c0001t0009g0097 a0001c0001t0009g0323 a0001c0001t0015g0265 a0001c0010t0013g0162	5	396	0.0126	13	c.357 others(30): Show c.357+1231_357+1243dupTTTTTTTTTTTTT	LASP1	ENSG00000002834.19	transcript	ENST00000318008.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)