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
LAMA4_chr6_112102931_112259567	112190947	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03139.hp2 HG02015.hp1 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0050 a0001c0005 a0001c0050	a0001c0005t0001 a0001c0050t0001 a0001c0005t0001 a0001c0050t0001	a0001c0005t0001g0263 a0001c0050t0001g0310 a0001c0005t0001g0263 a0001c0050t0001g0310	2	314	0.0064	19	c.718 others(34): Show c.718+688_718+689insAAAGAAAGAAAGAAAGAAA	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA5_chr20_62304065_62372312	62309639	T T	TGGGGGGT others(12): Show TGGGGGGTGGGAGGGGGTGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02145.hp1 HG02451.hp1 others(4): Show HG01074.hp2 HG02145.hp1 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG03453.hp2	a0027 a0068 a0086 others(4): Show a0027 a0068 a0086 a0087 a0088 a0093 a0094	a0027c0027 a0068c0072 a0086c0030 others(4): Show a0027c0027 a0068c0072 a0086c0030 a0087c0031 a0088c0032 a0093c0024 a0094c0025	a0027c0027t0001 a0068c0072t0001 a0086c0030t0001 others(4): Show a0027c0027t0001 a0068c0072t0001 a0086c0030t0001 a0087c0031t0001 a0088c0032t0001 a0093c0024t0001 a0094c0025t0001	a0027c0027t0001g0002 a0068c0072t0001g0159 a0086c0030t0001g0177 others(4): Show a0027c0027t0001g0002 a0068c0072t0001g0159 a0086c0030t0001g0177 a0087c0031t0001g0179 a0088c0032t0001g0178 a0093c0024t0001g0007 a0094c0025t0001g0008	7	186	0.0376	19	c.109 others(36): Show c.10948+76_10948+77insCCACCCCCTCCCACCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62309639	T T	TGGGGGGT others(12): Show TGGGGGGTGGGGGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0013 a0013	a0013c0135 a0013c0135	a0013c0135t0001 a0013c0135t0001	a0013c0135t0001g0064 a0013c0135t0001g0064	1	186	0.0054	19	c.109 others(36): Show c.10948+76_10948+77insCCACCCCCCCCCACCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62318298	G G	GGGGGGGA others(12): Show GGGGGGGAGGAAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0000 a0000	a0000c0050 a0000c0050	a0000c0050t0001 a0000c0050t0001	a0000c0050t0001g0060 a0000c0050t0001g0060	1	186	0.0054	19	c.723 others(36): Show c.7239+155_7239+156insTCCTCCTCTTCCTCCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321111	A A	AGGTAGGG others(12): Show AGGTAGGGCCAGCACAAGGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01358.hp2 HG01884.hp2 others(9): Show HG01074.hp2 HG01358.hp2 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG03453.hp1 HG03453.hp2	a0003 a0027 a0060 others(8): Show a0003 a0027 a0060 a0061 a0068 a0086 a0087 a0088 a0090 a0093 a0094	a0003c0064 a0027c0026 a0027c0027 others(9): Show a0003c0064 a0027c0026 a0027c0027 a0060c0071 a0061c0036 a0068c0072 a0086c0030 a0087c0031 a0088c0032 a0090c0066 a0093c0024 a0094c0025	a0003c0064t0001 a0027c0026t0001 a0027c0027t0001 others(9): Show a0003c0064t0001 a0027c0026t0001 a0027c0027t0001 a0060c0071t0001 a0061c0036t0001 a0068c0072t0001 a0086c0030t0001 a0087c0031t0001 a0088c0032t0001 a0090c0066t0001 a0093c0024t0001 a0094c0025t0001	a0003c0064t0001g0084 a0027c0026t0001g0003 a0027c0027t0001g0002 others(9): Show a0003c0064t0001g0084 a0027c0026t0001g0003 a0027c0027t0001g0002 a0060c0071t0001g0042 a0061c0036t0001g0181 a0068c0072t0001g0159 a0086c0030t0001g0177 a0087c0031t0001g0179 a0088c0032t0001g0178 a0090c0066t0001g0019 a0093c0024t0001g0007 a0094c0025t0001g0008	12	186	0.0645	19	c.649 others(36): Show c.6497-240_6497-222dupCCCTTGTGCTGGCCCTACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321535	T T	TGGCGCCA others(12): Show TGGCGCCAGTGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00544.hp1 others(70): Show HG00140.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01123.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01515.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02886.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19066.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0004 others(29): Show a0000 a0001 a0004 a0005 a0006 a0014 a0015 a0016 a0017 a0026 a0033 a0034 a0035 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0057 a0067 a0074 a0075 a0076 a0077 a0081 a0084 a0091	a0000c0050 a0000c0094 a0000c0098 others(45): Show a0000c0050 a0000c0094 a0000c0098 a0000c0103 a0000c0109 a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0001c0015 a0001c0082 a0001c0100 a0004c0004 a0004c0090 a0004c0091 a0004c0092 a0005c0018 a0005c0108 a0006c0011 a0014c0019 a0015c0020 a0016c0047 a0016c0093 a0017c0083 a0017c0085 a0026c0060 a0033c0107 a0034c0106 a0035c0084 a0037c0044 a0038c0088 a0039c0087 a0040c0089 a0041c0102 a0042c0099 a0043c0097 a0044c0095 a0045c0101 a0046c0105 a0057c0052 a0067c0076 a0074c0049 a0075c0110 a0076c0111 a0077c0112 a0081c0058 a0084c0067 a0091c0029	a0000c0050t0001 a0000c0094t0001 a0000c0098t0001 others(47): Show a0000c0050t0001 a0000c0094t0001 a0000c0098t0001 a0000c0103t0001 a0000c0109t0001 a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0010t0001 a0001c0010t0002 a0001c0015t0001 a0001c0082t0002 a0001c0100t0001 a0004c0004t0001 a0004c0090t0001 a0004c0091t0004 a0004c0092t0001 a0005c0018t0001 a0005c0018t0002 a0005c0108t0001 a0006c0011t0001 a0014c0019t0001 a0015c0020t0001 a0016c0047t0001 a0016c0093t0001 a0017c0083t0001 a0017c0085t0001 a0026c0060t0001 a0033c0107t0001 a0034c0106t0001 a0035c0084t0001 a0037c0044t0001 a0038c0088t0001 a0039c0087t0001 a0040c0089t0001 a0041c0102t0001 a0042c0099t0001 a0043c0097t0002 a0044c0095t0001 a0045c0101t0001 a0046c0105t0001 a0057c0052t0001 a0067c0076t0001 a0074c0049t0001 a0075c0110t0001 a0076c0111t0001 a0077c0112t0001 a0081c0058t0001 a0084c0067t0001 a0091c0029t0001	a0000c0050t0001g0060 a0000c0094t0001g0098 a0000c0098t0001g0124 others(70): Show a0000c0050t0001g0060 a0000c0094t0001g0098 a0000c0098t0001g0124 a0000c0103t0001g0100 a0000c0109t0001g0113 a0001c0001t0001g0014 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0005t0001g0121 a0001c0005t0001g0127 a0001c0005t0001g0141 a0001c0005t0001g0161 a0001c0007t0001g0085 a0001c0007t0001g0145 a0001c0007t0001g0149 a0001c0010t0001g0119 a0001c0010t0001g0125 a0001c0010t0002g0117 a0001c0015t0001g0166 a0001c0015t0001g0168 a0001c0082t0002g0012 a0001c0100t0001g0092 a0004c0004t0001g0099 a0004c0004t0001g0112 a0004c0004t0001g0133 a0004c0004t0001g0165 a0004c0090t0001g0097 a0004c0091t0004g0001 a0004c0092t0001g0107 a0005c0018t0001g0118 a0005c0018t0002g0122 a0005c0108t0001g0148 a0006c0011t0001g0093 a0006c0011t0001g0095 a0006c0011t0001g0147 a0014c0019t0001g0150 a0014c0019t0001g0152 a0015c0020t0001g0151 a0015c0020t0001g0153 a0016c0047t0001g0086 a0016c0093t0001g0123 a0017c0083t0001g0129 a0017c0085t0001g0104 a0026c0060t0001g0051 a0033c0107t0001g0111 a0034c0106t0001g0154 a0035c0084t0001g0169 a0037c0044t0001g0167 a0038c0088t0001g0013 a0039c0087t0001g0108 a0040c0089t0001g0109 a0041c0102t0001g0103 a0042c0099t0001g0094 a0043c0097t0002g0088 a0044c0095t0001g0163 a0045c0101t0001g0144 a0046c0105t0001g0140 a0057c0052t0001g0017 a0067c0076t0001g0160 a0074c0049t0001g0061 a0075c0110t0001g0162 a0076c0111t0001g0116 a0077c0112t0001g0106 a0081c0058t0001g0036 a0084c0067t0001g0010 a0091c0029t0001g0180	73	186	0.3925	19	c.649 others(36): Show c.6496+465_6496+483dupCTCTTCCTCCACTGGCGCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321538	C C	CGCCAGTG others(12): Show CGCCAGTGGAGGAAGAGGGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18906.hp2 HG03471.hp2 NA18906.hp2	a0024 a0024	a0024c0017 a0024c0017	a0024c0017t0001 a0024c0017t0001	a0024c0017t0001g0157 a0024c0017t0001g0158 a0024c0017t0001g0157 a0024c0017t0001g0158	2	186	0.0108	19	c.649 others(36): Show c.6496+462_6496+480dupCCCCTCTTCCTCCACTGGC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62334753	C C	CAGGGCTC others(12): Show CAGGGCTCAGGGCGAGGGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00597.hp1 others(52): Show HG00140.hp1 HG00544.hp1 HG00597.hp1 HG00673.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG03927.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18966.hp2 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA19010.hp1 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(19): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0016 a0017 a0033 a0036 a0038 a0039 a0040 a0041 a0042 a0043 a0046 a0056 a0076 a0077 a0084	a0000c0094 a0000c0096 a0000c0098 others(31): Show a0000c0094 a0000c0096 a0000c0098 a0000c0103 a0000c0109 a0001c0001 a0001c0005 a0001c0010 a0001c0082 a0001c0100 a0002c0003 a0003c0002 a0004c0004 a0004c0090 a0004c0091 a0005c0018 a0005c0108 a0006c0011 a0016c0093 a0017c0083 a0017c0085 a0033c0107 a0036c0086 a0038c0088 a0039c0087 a0040c0089 a0041c0102 a0042c0099 a0043c0097 a0046c0105 a0056c0104 a0076c0111 a0077c0112 a0084c0067	a0000c0094t0001 a0000c0096t0002 a0000c0098t0001 others(33): Show a0000c0094t0001 a0000c0096t0002 a0000c0098t0001 a0000c0103t0001 a0000c0109t0001 a0001c0001t0001 a0001c0005t0001 a0001c0010t0001 a0001c0010t0002 a0001c0082t0002 a0001c0100t0001 a0002c0003t0001 a0003c0002t0001 a0004c0004t0001 a0004c0090t0001 a0004c0091t0004 a0005c0018t0001 a0005c0018t0002 a0005c0108t0001 a0006c0011t0001 a0016c0093t0001 a0017c0083t0001 a0017c0085t0001 a0033c0107t0001 a0036c0086t0001 a0038c0088t0001 a0039c0087t0001 a0040c0089t0001 a0041c0102t0001 a0042c0099t0001 a0043c0097t0002 a0046c0105t0001 a0056c0104t0001 a0076c0111t0001 a0077c0112t0001 a0084c0067t0001	a0000c0094t0001g0098 a0000c0096t0002g0089 a0000c0098t0001g0124 others(52): Show a0000c0094t0001g0098 a0000c0096t0002g0089 a0000c0098t0001g0124 a0000c0103t0001g0100 a0000c0109t0001g0113 a0001c0001t0001g0014 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0005t0001g0127 a0001c0005t0001g0141 a0001c0005t0001g0161 a0001c0010t0001g0125 a0001c0010t0002g0117 a0001c0082t0002g0012 a0001c0100t0001g0092 a0002c0003t0001g0130 a0002c0003t0001g0132 a0002c0003t0001g0137 a0002c0003t0001g0139 a0002c0003t0001g0146 a0003c0002t0001g0037 a0003c0002t0001g0039 a0003c0002t0001g0040 a0004c0004t0001g0099 a0004c0004t0001g0112 a0004c0004t0001g0133 a0004c0090t0001g0097 a0004c0091t0004g0001 a0005c0018t0001g0118 a0005c0018t0002g0122 a0005c0108t0001g0148 a0006c0011t0001g0093 a0006c0011t0001g0095 a0006c0011t0001g0147 a0016c0093t0001g0123 a0017c0083t0001g0129 a0017c0085t0001g0104 a0033c0107t0001g0111 a0036c0086t0001g0143 a0038c0088t0001g0013 a0039c0087t0001g0108 a0040c0089t0001g0109 a0041c0102t0001g0103 a0042c0099t0001g0094 a0043c0097t0002g0088 a0046c0105t0001g0140 a0056c0104t0001g0131 a0076c0111t0001g0116 a0077c0112t0001g0106 a0084c0067t0001g0010	55	186	0.2957	19	c.248 others(36): Show c.2483-133_2483-132insCGCCCTCGCCCTGAGCCCT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	20/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360517	G G	GGGTGGAG others(12): Show GGGTGGAGGGATAGATGGGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0117 a0001c0010t0002g0117	1	186	0.0054	19	c.450 others(36): Show c.450+1882_450+1883insACCCATCTATCCCTCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMB1_chr7_107918799_108008161	108005762	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0028 a0001c0032t0001g0028	1	364	0.0028	19	c.-27 others(30): Show c.-2739_-2738insTTTTTTTTTTTTTTTTTTT	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding		2602		chr7	TogoVar
LAMB3_chr1_209609870_209657425	209624894	G G	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0242 a0003c0001t0001g0242	1	444	0.0023	19	c.197 others(36): Show c.1976+735_1976+753dupTTCCTTCCTTCCTTCCTTC	LAMB3	ENSG00000196878.15	transcript	ENST00000356082.9	protein_coding	14/22			chr1	TogoVar
LAMC1_chr1_183018420_183150592	183023365	A A	AGACCCCA others(12): Show AGACCCCACCCCACCCTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0028 a0001c0002t0014g0028	1	308	0.0033	19	c.-35 others(28): Show c.-352_-351insGACCCCACCCCACCCTGCC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		54		chr1	TogoVar
LAMC2_chr1_183181264_183250127	183210195	G G	GGTTTGTT others(12): Show GGTTTGTTGACATCAAAGGT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	336	0.0030	19	c.268 others(36): Show c.268+2127_268+2145dupGTTTGTTGACATCAAAGGT	LAMC2	ENSG00000058085.15	transcript	ENST00000264144.5	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC3_chr9_131004174_131099473	131022215	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0060 a0060	a0060c0157 a0060c0157	a0060c0157t0002 a0060c0157t0002	a0060c0157t0002g0123 a0060c0157t0002g0123	1	360	0.0028	19	c.374 others(36): Show c.374-4070_374-4069insCACACACACACACACACAC	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	1/27			chr9	TogoVar
LAMC3_chr9_131004174_131099473	131096385	T T	TGGCGGGA others(12): Show TGGCGGGAGGGGAGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18985.hp1 NA18970.hp1 NA18985.hp1	a0012 a0027 a0012 a0027	a0012c0150 a0027c0040 a0012c0150 a0027c0040	a0012c0150t0002 a0027c0040t0002 a0012c0150t0002 a0027c0040t0002	a0012c0150t0002g0070 a0027c0040t0002g0221 a0012c0150t0002g0070 a0027c0040t0002g0221	2	360	0.0056	19	c.45 others(30): Show c.4598_*4599insGGCGGGAGGGGAGGGGAGA	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding		1913		chr9	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18966.hp2 NA18993.hp2 others(2): Show HG02040.hp2 NA18966.hp2 NA18993.hp2 NA19007.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0042 a0001c0003t0002g0054 others(1): Show a0001c0003t0002g0012 a0001c0003t0002g0042 a0001c0003t0002g0054 a0001c0003t0002g0067	5	372	0.0134	19	c.888 others(36): Show c.888+2800_888+2801insATATATATATATATATTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18951.hp2 NA18906.hp1 NA18951.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0047 a0001c0003t0002g0053 a0001c0003t0002g0047 a0001c0003t0002g0053	2	372	0.0054	19	c.888 others(36): Show c.888+2800_888+2801insATATATATATATATATATT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LANCL2_chr7_55360337_55438737	55415621	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(86): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02074.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18949.hp2 NA18953.hp1 NA18964.hp1 NA18968.hp2 NA18975.hp2 NA18979.hp1 NA18985.hp1 NA18988.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp2 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0002c0003 a0002c0014	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 others(14): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0001c0001t0029 a0001c0001t0031 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0027 a0001c0002t0028 a0001c0004t0006 a0001c0012t0016 a0002c0003t0002 a0002c0003t0008 a0002c0003t0009 a0002c0003t0022 a0002c0014t0021	a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0228 others(73): Show a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0001g0269 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0309 a0001c0001t0011g0261 a0001c0001t0011g0266 a0001c0001t0011g0271 a0001c0001t0015g0235 a0001c0001t0029g0252 a0001c0001t0031g0204 a0001c0002t0002g0171 a0001c0002t0006g0154 a0001c0002t0008g0195 a0001c0002t0008g0196 a0001c0002t0027g0088 a0001c0002t0028g0087 a0001c0004t0006g0182 a0001c0004t0006g0186 a0001c0004t0006g0189 a0001c0004t0006g0192 a0001c0012t0016g0311 a0002c0003t0002g0001 a0002c0003t0002g0002 a0002c0003t0002g0003 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0018 a0002c0003t0002g0024 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0037 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0049 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0062 a0002c0003t0002g0068 a0002c0003t0002g0070 a0002c0003t0002g0072 a0002c0003t0002g0076 a0002c0003t0002g0078 a0002c0003t0008g0038 a0002c0003t0008g0057 a0002c0003t0008g0067 a0002c0003t0009g0063 a0002c0003t0009g0064 a0002c0003t0009g0065 a0002c0003t0009g0075 a0002c0003t0022g0035 a0002c0014t0021g0034	89	352	0.2528	19	c.100 others(38): Show c.1008+3540_1008+3541insTTTTTTTTTTTTTTTTTTT	LANCL2	ENSG00000132434.10	transcript	ENST00000254770.3	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
LAP3_chr4_17572198_17612970	17580184	A A	ATATATAT others(12): Show ATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0187 a0001c0007t0001g0187	1	300	0.0033	19	c.218 others(34): Show c.218+246_218+247insATATATATATATATGTATT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LAPTM4B_chr8_97770788_97858013	97775702	G G	GTGCTTGG others(12): Show GTGCTTGGAGCTCCAGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(86): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01517.hp2 HG01952.hp2 HG01978.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02280.hp1 HG02818.hp1 HG02895.hp2 HG03098.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18988.hp1 NA18999.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0002c0003t0005	a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0263 others(86): Show a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0337 a0001c0001t0001g0344 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0310 a0001c0001t0002g0316 a0001c0001t0002g0322 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0003g0001 a0001c0001t0003g0262 a0001c0001t0003g0267 a0001c0001t0003g0274 a0001c0001t0003g0278 a0001c0001t0003g0281 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0314 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0327 a0001c0001t0003g0347 a0001c0001t0003g0354 a0001c0001t0003g0356 a0001c0001t0005g0002 a0001c0001t0005g0321 a0001c0001t0005g0335 a0001c0001t0005g0341 a0001c0001t0011g0280 a0001c0001t0011g0282 a0001c0001t0011g0349 a0001c0001t0016g0276 a0001c0001t0016g0339 a0001c0001t0016g0352 a0001c0001t0025g0292 a0001c0001t0027g0302 a0001c0001t0034g0255 a0002c0003t0005g0351	89	380	0.2342	19	c.-30 others(28): Show c.-308_-307insTGCTTGGAGCTCCAGCAGC	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding		85		chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97781278	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 HG01891.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0010 a0001c0001t0006g0006 a0001c0001t0002g0010 a0001c0001t0006g0006	2	380	0.0053	19	c.99+ others(34): Show c.99+5173_99+5191dupTTTTTTTTTTTTTTTTTTT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02922.hp1 HG03041.hp1 others(3): Show HG01167.hp1 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03486.hp2 NA18953.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0003t0005	a0001c0001t0001g0107 a0001c0001t0003g0085 a0001c0001t0005g0026 others(3): Show a0001c0001t0001g0107 a0001c0001t0003g0085 a0001c0001t0005g0026 a0001c0001t0005g0081 a0001c0001t0005g0361 a0002c0003t0005g0084	6	380	0.0158	19	c.603 others(36): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33441071	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0004 a0001c0001t0015g0004	1	110	0.0091	19	c.788 others(36): Show c.788-8825_788-8807dupAAAAAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33600623	A A	AGAAATAA others(12): Show AGAAATAATCTGTTCAAAGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01071.hp2 others(11): Show HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01257.hp1 HG01891.hp2 HG02280.hp2 HG02486.hp1 HG02809.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0003t0009 a0001c0003t0032 a0001c0004t0005 a0001c0017t0009	a0001c0001t0001g0031 a0001c0001t0001g0059 a0001c0001t0001g0060 others(11): Show a0001c0001t0001g0031 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0006g0007 a0001c0001t0007g0046 a0001c0001t0018g0067 a0001c0003t0009g0001 a0001c0003t0032g0107 a0001c0004t0005g0026 a0001c0017t0009g0083	14	110	0.1273	19	c.615 others(36): Show c.615+3811_615+3812insCCTTTGAACAGATTATTTC	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	5/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33651225	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01255.hp1 others(6): Show HG00280.hp1 HG00741.hp2 HG01255.hp1 HG02280.hp1 HG02523.hp2 HG02615.hp2 HG03491.hp1 HG03654.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 others(2): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0013t0001 a0001c0014t0012 a0001c0016t0020	a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0002g0088 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0002g0088 a0001c0001t0002g0100 a0001c0002t0001g0021 a0001c0002t0003g0003 a0001c0013t0001g0036 a0001c0014t0012g0086 a0001c0016t0020g0002	9	110	0.0818	19	c.107 others(34): Show c.107-558_107-557insTTTTTTTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33651240	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0109 a0001c0001t0031g0109	1	110	0.0091	19	c.107 others(34): Show c.107-573_107-572insGTTTTTTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33675292	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02148.hp2 HG02818.hp2 HG01099.hp1 HG02148.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0011 a0001c0001t0001 a0001c0002t0001 a0001c0003t0011	a0001c0001t0001g0060 a0001c0002t0001g0033 a0001c0003t0011g0018 a0001c0001t0001g0060 a0001c0002t0001g0033 a0001c0003t0011g0018	3	110	0.0273	19	c.107 others(38): Show c.107-24643_107-24625dupTTTTTTTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33878129	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	110	0.0091	19	c.-83 others(38): Show c.-83+41847_-83+41865dupAAAAAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128098767	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	336	0.0030	19	c.813 others(34): Show c.813+438_813+439insATATATATATATATTTTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098768	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	336	0.0030	19	c.813 others(34): Show c.813+438_813+439insATATATATATATATATATA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19			chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098768	T T	TATATATA others(12): Show TATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0281 a0004c0005t0005g0281	1	336	0.0030	19	c.813 others(34): Show c.813+438_813+439insATATATATATATATATATG	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19			chr4	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp1 HG02976.hp1 others(2): Show HG00735.hp1 HG02451.hp1 HG02976.hp1 HG03540.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0012 a0002c0002 a0002c0012	a0002c0002t0002 a0002c0002t0015 a0002c0012t0005 a0002c0002t0002 a0002c0002t0015 a0002c0012t0005	a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0025 others(2): Show a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0015g0020 a0002c0012t0005g0098	5	336	0.0149	19	c.988 others(36): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128143796	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	336	0.0030	19	c.152 others(40): Show c.1525-18398_1525-18397insTGTGTGTGTGTGTGTGTGT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	11/19			chr4	TogoVar
LARP1_chr5_154750377_154822605	154795825	A A	ATATATAT others(12): Show ATATATATTTTATATATATT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	304	0.0033	19	c.137 others(36): Show c.1377+513_1377+514insTTTATATATATTTATATAT	LARP1	ENSG00000155506.19	transcript	ENST00000518297.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02083.hp2 HG02148.hp1 others(7): Show HG01978.hp2 HG02083.hp2 HG02148.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 NA18952.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0223 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0286 a0001c0001t0002g0268 a0001c0005t0001g0260 a0001c0009t0001g0271 a0002c0002t0001g0212 a0002c0002t0001g0214	10	318	0.0315	19	c.804 others(36): Show c.804+4787_804+4788insATATATATATATATATATT	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(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02809.hp1 HG02886.hp1 others(1): Show HG00438.hp2 HG02809.hp1 HG02886.hp1 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0230 a0001c0001t0001g0266 a0001c0001t0001g0284 others(1): Show a0001c0001t0001g0230 a0001c0001t0001g0266 a0001c0001t0001g0284 a0004c0004t0001g0239	4	318	0.0126	19	c.804 others(36): Show c.804+4787_804+4788insATATATATATATATATTTT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARS2_chr3_45383576_45554407	45484618	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19030.hp1 NA18949.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0049 a0001c0002t0004g0207 a0001c0002t0001g0049 a0001c0002t0004g0207	2	242	0.0083	19	c.101 others(38): Show c.1019-1074_1019-1073insTATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484620	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03669.hp1 NA19075.hp2 HG02922.hp1 HG03669.hp1 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0044 a0001c0002t0001g0221 a0001c0004t0001g0074 a0001c0002t0001g0044 a0001c0002t0001g0221 a0001c0004t0001g0074	3	242	0.0124	19	c.101 others(38): Show c.1019-1072_1019-1071insTATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484622	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	242	0.0041	19	c.101 others(38): Show c.1019-1070_1019-1069insTATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484624	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02109.hp2 HG02683.hp1 others(1): Show HG00099.hp2 HG02109.hp2 HG02683.hp1 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0124 a0001c0002t0001g0223 a0001c0002t0001g0225 others(1): Show a0001c0002t0001g0124 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0012g0190	4	242	0.0165	19	c.101 others(38): Show c.1019-1068_1019-1067insTATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484628	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	242	0.0041	19	c.101 others(38): Show c.1019-1064_1019-1063insTATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03486.hp1 HG03486.hp2 others(3): Show HG02055.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0021 a0001c0001 a0001c0003 a0001c0021	a0001c0001t0004 a0001c0003t0005 a0001c0003t0006 others(2): Show a0001c0001t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0015 a0001c0021t0005	a0001c0001t0004g0185 a0001c0003t0005g0204 a0001c0003t0006g0191 others(3): Show a0001c0001t0004g0185 a0001c0003t0005g0204 a0001c0003t0006g0191 a0001c0003t0006g0192 a0001c0003t0015g0163 a0001c0021t0005g0206	6	242	0.0248	19	c.101 others(38): Show c.1019-1061_1019-1060insATATATATATATATATATA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LAS1L_chrX_65507582_65539787	65525748	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02280.hp2 others(4): Show HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02976.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0048 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060	7	203	0.0345	19	c.957 others(34): Show c.957-717_957-699dupTTTTTTTTTTTTTTTTTTT	LAS1L	ENSG00000001497.18	transcript	ENST00000374811.8	protein_coding	7/13			chrX	TogoVar
LATS2_chr13_20968036_21066586	21007555	A A	ATATATAT others(12): Show ATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0231 a0003c0003t0002g0231	1	316	0.0032	19	c.343 others(38): Show c.343-16152_343-16151insCTATATATATATATATATA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21011652	T T	TAAGCAGC others(12): Show TAAGCAGCAGGTATTTGCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03139.hp2 HG02280.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0211 a0001c0001t0001g0183 a0001c0001t0001g0211	2	316	0.0063	19	c.343 others(38): Show c.343-20249_343-20248insGGGCAAATACCTGCTGCTT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LAX1_chr1_203760183_203781372	203767303	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02004.hp2 HG03239.hp2 others(4): Show HG01496.hp2 HG02004.hp2 HG03239.hp2 NA18970.hp1 NA18980.hp2 NA19004.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0023 a0002c0004t0013 a0001c0001t0001 a0001c0001t0023 a0002c0004t0013	a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 others(4): Show a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0023g0278 a0002c0004t0013g0276	7	422	0.0166	19	c.89+ others(34): Show c.89+1652_89+1670dupTTTTTTTTTTTTTTTTTTT	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAX1_chr1_203760183_203781372	203769397	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0270 a0001c0001t0022g0270	1	422	0.0024	19	c.90- others(34): Show c.90-1429_90-1428insGAAAGAAAGAAAGAAAGAA	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
LCA5L_chr21_39400728_39450778	39428578	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	340	0.0029	19	c.-10 others(32): Show c.-10-76_-10-75insTATATATATATATATATAT	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCA5L_chr21_39400728_39450778	39428598	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18975.hp2 HG01884.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0064 a0001c0001t0001g0083	2	340	0.0059	19	c.-10 others(32): Show c.-10-96_-10-95insATATATATATATATATATA	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCA5_chr6_79479991_79542430	79538018	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	400	0.0025	19	c.-10 others(30): Show c.-1046_-1045insAAAAAAAAAAAAAAAAAAA	LCA5	ENSG00000135338.14	transcript	ENST00000369846.9	protein_coding		589		chr6	TogoVar

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