Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
L1TD1_chr1_62189849_62217328	62205443	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0089 a0003c0003t0004g0089	1	414	0.0024	21	c.-11 others(40): Show c.-110-1067_-110-1066insTTTTTTTTTTTTTTTTTTTTT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L3MBTL4_chr18_5949717_6419911	6118196	T T	TACACACA others(14): Show TACACACACACACAACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	94	0.0106	21	c.119 others(42): Show c.1199+19997_1199+19998insGTGTGTGTTGTGTGTGTGTGT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6247466	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0036 a0002c0006t0001g0036	1	94	0.0106	21	c.220 others(38): Show c.220-2899_220-2879dupAAAAAAAAAAAAAAAAAAAAA	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	5/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6391752	A A	AACAACAA others(14): Show AACAACAACTACTACTACTACT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG03225.hp1 others(2): Show HG02486.hp2 HG02559.hp2 HG03225.hp1 HG03453.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0010 a0001c0001 a0001c0003 a0004c0010	a0001c0001t0004 a0001c0001t0005 a0001c0003t0002 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0003t0002 a0004c0010t0002	a0001c0001t0004g0049 a0001c0001t0005g0057 a0001c0003t0002g0039 others(2): Show a0001c0001t0004g0049 a0001c0001t0005g0057 a0001c0003t0002g0039 a0001c0003t0002g0056 a0004c0010t0002g0089	5	94	0.0532	21	c.-91 others(40): Show c.-91+23048_-91+23049insAGTAGTAGTAGTAGTTGTTGT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	1/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6391752	A A	AACAACTA others(14): Show AACAACTACTACTACTACTACT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp1 HG03579.hp2 others(3): Show HG02809.hp1 HG02976.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0002 a0002c0002t0001 a0003c0005t0004 a0001c0001t0002 a0002c0002t0001 a0003c0005t0004	a0001c0001t0002g0003 a0002c0002t0001g0082 a0002c0002t0001g0083 others(3): Show a0001c0001t0002g0003 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0003c0005t0004g0085 a0003c0005t0004g0086	6	94	0.0638	21	c.-91 others(40): Show c.-91+23048_-91+23049insAGTAGTAGTAGTAGTAGTTGT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	1/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6391752	A A	AACTACTA others(14): Show AACTACTACTACTACTACTACT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02080.hp2 HG02559.hp1 others(6): Show HG01952.hp1 HG02080.hp2 HG02559.hp1 HG02818.hp1 HG02897.hp1 HG03195.hp1 HG03492.hp1 HG03516.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001	a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0034 others(6): Show a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0005g0088 a0002c0002t0001g0019 a0002c0002t0001g0032 a0002c0002t0001g0053 a0002c0002t0001g0054	9	94	0.0957	21	c.-91 others(40): Show c.-91+23028_-91+23048dupAGTAGTAGTAGTAGTAGTAGT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	1/18			chr18	TogoVar
LACTB2_chr8_70632266_70674185	70668748	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0050 a0001c0002t0003g0050	1	352	0.0028	21	c.122 others(36): Show c.122+230_122+250dupAAAAAAAAAAAAAAAAAAAAA	LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding	1/6			chr8	TogoVar
LACTBL1_chr1_22948043_22977866	22950371	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01516.hp2 HG02132.hp1 others(5): Show HG00438.hp2 HG01516.hp2 HG02132.hp1 HG02165.hp2 HG02602.hp2 HG02818.hp1 HG02886.hp2 NA19064.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0019	a0001c0001 a0002c0002 a0005c0006 others(1): Show a0001c0001 a0002c0002 a0005c0006 a0019c0017	a0001c0001t0001 a0002c0002t0001 a0005c0006t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0005c0006t0001 a0019c0017t0001	a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0193 others(5): Show a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0212 a0001c0001t0001g0267 a0002c0002t0001g0044 a0005c0006t0001g0123 a0019c0017t0001g0303	8	450	0.0178	21	c.26 others(32): Show c.2671_*2672insTAATAATAATAATAATAATAA	LACTBL1	ENSG00000215906.9	transcript	ENST00000426928.7	protein_coding		2671		chr1	TogoVar
LAMA1_chr18_6936742_7122797	7000777	G G	GATGAAGT others(14): Show GATGAAGTTTCCAGCGTCAGTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0165 a0001c0165	a0001c0165t0001 a0001c0165t0001	a0001c0165t0001g0137 a0001c0165t0001g0137	1	278	0.0036	21	c.438 others(38): Show c.4383-801_4383-781dupAACTGACGCTGGAAACTTCAT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	30/62			chr18	TogoVar
LAMA2_chr6_128878138_129521566	129178001	A A	ACCCTATA others(14): Show ACCCTATAAATGTCTTTAAATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02257.hp1 HG03139.hp2 others(1): Show HG01192.hp1 HG02257.hp1 HG03139.hp2 NA21309.hp1	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0010	a0002c0056 a0003c0018 a0007c0017 others(1): Show a0002c0056 a0003c0018 a0007c0017 a0010c0016	a0002c0056t0003 a0003c0018t0001 a0007c0017t0007 others(1): Show a0002c0056t0003 a0003c0018t0001 a0007c0017t0007 a0010c0016t0002	a0002c0056t0003g0077 a0003c0018t0001g0032 a0007c0017t0007g0025 others(1): Show a0002c0056t0003g0077 a0003c0018t0001g0032 a0007c0017t0007g0025 a0010c0016t0002g0023	4	88	0.0455	21	c.146 others(38): Show c.1467+138_1467+139insTATAAATGTCTTTAAATGCCC	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	10/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62309607	A A	AGGGGGCA others(14): Show AGGGGGCAGGGGGTGGAGGGGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0045 a0045	a0045c0121 a0045c0121	a0045c0121t0006 a0045c0121t0006	a0045c0121t0006g0076 a0045c0121t0006g0076	1	186	0.0054	21	c.109 others(40): Show c.10948+108_10948+109insACCCCTCCACCCCCTGCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62309639	T T	TGGGGGGG others(14): Show TGGGGGGGTGGGAGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp1 others(44): Show HG00099.hp1 HG00140.hp1 HG00544.hp1 HG00544.hp2 HG01123.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp2 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02683.hp1 HG02723.hp1 HG02897.hp1 HG02922.hp1 HG03239.hp1 HG03491.hp1 HG04115.hp1 HG04199.hp1 NA18943.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19066.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 others(22): Show a0001 a0003 a0004 a0006 a0010 a0011 a0014 a0021 a0022 a0024 a0044 a0048 a0050 a0052 a0053 a0057 a0061 a0071 a0075 a0081 a0088 a0094 a0100 a0101 a0102	a0001c0001 a0001c0005 a0001c0007 others(29): Show a0001c0001 a0001c0005 a0001c0007 a0001c0015 a0001c0102 a0003c0002 a0004c0004 a0004c0090 a0004c0091 a0006c0093 a0010c0011 a0011c0013 a0011c0028 a0014c0051 a0021c0083 a0022c0022 a0024c0054 a0044c0086 a0048c0036 a0050c0059 a0052c0094 a0053c0076 a0057c0101 a0061c0087 a0071c0088 a0075c0124 a0081c0089 a0088c0055 a0094c0095 a0100c0067 a0101c0105 a0102c0044	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 others(29): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0015t0001 a0001c0102t0001 a0003c0002t0001 a0004c0004t0001 a0004c0090t0001 a0004c0091t0004 a0006c0093t0001 a0010c0011t0001 a0011c0013t0001 a0011c0028t0001 a0014c0051t0001 a0021c0083t0001 a0022c0022t0001 a0024c0054t0001 a0044c0086t0001 a0048c0036t0001 a0050c0059t0001 a0052c0094t0001 a0053c0076t0001 a0057c0101t0001 a0061c0087t0001 a0071c0088t0001 a0075c0124t0001 a0081c0089t0001 a0088c0055t0001 a0094c0095t0001 a0100c0067t0001 a0101c0105t0001 a0102c0044t0001	a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0105 others(44): Show a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0005t0001g0121 a0001c0005t0001g0127 a0001c0007t0001g0085 a0001c0007t0001g0145 a0001c0007t0001g0149 a0001c0015t0001g0166 a0001c0102t0001g0103 a0003c0002t0001g0028 a0003c0002t0001g0038 a0003c0002t0001g0039 a0003c0002t0001g0040 a0004c0004t0001g0099 a0004c0004t0001g0101 a0004c0004t0001g0112 a0004c0090t0001g0097 a0004c0091t0004g0001 a0006c0093t0001g0123 a0010c0011t0001g0093 a0010c0011t0001g0095 a0010c0011t0001g0147 a0011c0013t0001g0005 a0011c0028t0001g0004 a0014c0051t0001g0062 a0021c0083t0001g0129 a0022c0022t0001g0155 a0024c0054t0001g0059 a0044c0086t0001g0143 a0048c0036t0001g0181 a0050c0059t0001g0033 a0052c0094t0001g0098 a0053c0076t0001g0160 a0057c0101t0001g0144 a0061c0087t0001g0108 a0071c0088t0001g0013 a0075c0124t0001g0083 a0081c0089t0001g0109 a0088c0055t0001g0034 a0094c0095t0001g0163 a0100c0067t0001g0010 a0101c0105t0001g0140 a0102c0044t0001g0167	47	186	0.2527	21	c.109 others(38): Show c.10948+76_10948+77insCCCACCCCCTCCCACCCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62309639	T T	TGGGGGGT others(14): Show TGGGGGGTGGGAGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01074.hp1 others(6): Show HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01496.hp2 HG01993.hp2 HG02976.hp2 NA19007.hp2 NA19043.hp1 NA20129.hp2	a0007 a0009 a0022 others(4): Show a0007 a0009 a0022 a0024 a0036 a0077 a0095	a0007c0006 a0009c0008 a0022c0022 others(4): Show a0007c0006 a0009c0008 a0022c0022 a0024c0041 a0036c0038 a0077c0127 a0095c0057	a0007c0006t0003 a0009c0008t0001 a0022c0022t0001 others(4): Show a0007c0006t0003 a0009c0008t0001 a0022c0022t0001 a0024c0041t0001 a0036c0038t0001 a0077c0127t0001 a0095c0057t0001	a0007c0006t0003g0183 a0007c0006t0003g0184 a0009c0008t0001g0044 others(6): Show a0007c0006t0003g0183 a0007c0006t0003g0184 a0009c0008t0001g0044 a0009c0008t0001g0045 a0022c0022t0001g0156 a0024c0041t0001g0020 a0036c0038t0001g0171 a0077c0127t0001g0066 a0095c0057t0001g0043	9	186	0.0484	21	c.109 others(38): Show c.10948+76_10948+77insCCCCACCCCCTCCCACCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62309639	T T	TGGGGGGT others(14): Show TGGGGGGTGGGGGGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0020 a0020	a0020c0126 a0020c0126	a0020c0126t0001 a0020c0126t0001	a0020c0126t0001g0065 a0020c0126t0001g0065	1	186	0.0054	21	c.109 others(38): Show c.10948+76_10948+77insCCCACCCCCCCCCCACCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62318323	G G	GGAGGAAG others(14): Show GGAGGAAGAGGAGGAGGGGGGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0006 a0006	a0006c0093 a0006c0093	a0006c0093t0001 a0006c0093t0001	a0006c0093t0001g0123 a0006c0093t0001g0123	1	186	0.0054	21	c.723 others(38): Show c.7239+130_7239+131insGCCCCCCTCCTCCTCTTCCTC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62332926	T T	TGCAGGAG others(14): Show TGCAGGAGGCAGGAGGCAGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(91): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19066.hp1 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(41): Show a0001 a0002 a0004 a0006 a0010 a0012 a0016 a0017 a0018 a0019 a0021 a0023 a0026 a0029 a0031 a0032 a0038 a0040 a0043 a0044 a0047 a0049 a0051 a0052 a0055 a0057 a0058 a0059 a0061 a0067 a0068 a0070 a0071 a0075 a0085 a0087 a0091 a0092 a0094 a0096 a0100 a0101 a0102 a0103	a0001c0001 a0001c0005 a0001c0007 others(59): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0001c0015 a0001c0082 a0001c0100 a0001c0102 a0002c0003 a0002c0012 a0002c0081 a0004c0004 a0004c0090 a0004c0091 a0004c0092 a0006c0047 a0006c0093 a0006c0099 a0010c0011 a0012c0018 a0012c0108 a0016c0021 a0017c0019 a0018c0115 a0018c0116 a0019c0016 a0021c0083 a0021c0085 a0023c0020 a0026c0048 a0026c0077 a0029c0110 a0031c0118 a0032c0106 a0038c0084 a0040c0096 a0043c0119 a0044c0086 a0047c0117 a0049c0112 a0051c0113 a0052c0094 a0055c0023 a0057c0101 a0058c0114 a0059c0111 a0061c0087 a0067c0133 a0068c0052 a0070c0073 a0071c0088 a0075c0124 a0085c0120 a0087c0109 a0091c0104 a0092c0098 a0094c0095 a0096c0103 a0100c0067 a0101c0105 a0102c0044 a0103c0045	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 others(61): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0010t0001 a0001c0010t0002 a0001c0015t0001 a0001c0082t0002 a0001c0100t0001 a0001c0102t0001 a0002c0003t0001 a0002c0012t0001 a0002c0081t0001 a0004c0004t0001 a0004c0090t0001 a0004c0091t0004 a0004c0092t0001 a0006c0047t0001 a0006c0093t0001 a0006c0099t0001 a0010c0011t0001 a0012c0018t0001 a0012c0018t0002 a0012c0108t0001 a0016c0021t0001 a0017c0019t0001 a0018c0115t0001 a0018c0116t0001 a0019c0016t0001 a0021c0083t0001 a0021c0085t0001 a0023c0020t0001 a0026c0048t0001 a0026c0077t0001 a0029c0110t0001 a0031c0118t0001 a0032c0106t0001 a0038c0084t0001 a0040c0096t0002 a0043c0119t0001 a0044c0086t0001 a0047c0117t0001 a0049c0112t0001 a0051c0113t0001 a0052c0094t0001 a0055c0023t0001 a0057c0101t0001 a0058c0114t0005 a0059c0111t0001 a0061c0087t0001 a0067c0133t0001 a0068c0052t0001 a0070c0073t0001 a0071c0088t0001 a0075c0124t0001 a0085c0120t0001 a0087c0109t0001 a0091c0104t0001 a0092c0098t0001 a0094c0095t0001 a0096c0103t0001 a0100c0067t0001 a0101c0105t0001 a0102c0044t0001 a0103c0045t0001	a0001c0001t0001g0014 a0001c0001t0001g0096 a0001c0001t0001g0102 others(91): Show a0001c0001t0001g0014 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0005t0001g0121 a0001c0005t0001g0127 a0001c0005t0001g0141 a0001c0007t0001g0085 a0001c0007t0001g0145 a0001c0007t0001g0149 a0001c0010t0001g0119 a0001c0010t0001g0125 a0001c0010t0002g0117 a0001c0015t0001g0166 a0001c0015t0001g0168 a0001c0082t0002g0012 a0001c0100t0001g0092 a0001c0102t0001g0103 a0002c0003t0001g0090 a0002c0003t0001g0130 a0002c0003t0001g0132 a0002c0003t0001g0137 a0002c0003t0001g0139 a0002c0003t0001g0146 a0002c0012t0001g0015 a0002c0012t0001g0075 a0002c0081t0001g0087 a0004c0004t0001g0099 a0004c0004t0001g0101 a0004c0004t0001g0112 a0004c0004t0001g0133 a0004c0004t0001g0165 a0004c0090t0001g0097 a0004c0091t0004g0001 a0004c0092t0001g0107 a0006c0047t0001g0086 a0006c0093t0001g0123 a0006c0099t0001g0094 a0010c0011t0001g0093 a0010c0011t0001g0095 a0010c0011t0001g0147 a0012c0018t0001g0118 a0012c0018t0002g0122 a0012c0108t0001g0148 a0016c0021t0001g0073 a0016c0021t0001g0082 a0017c0019t0001g0150 a0017c0019t0001g0152 a0018c0115t0001g0081 a0018c0116t0001g0070 a0019c0016t0001g0029 a0019c0016t0001g0030 a0021c0083t0001g0129 a0021c0085t0001g0104 a0023c0020t0001g0151 a0026c0048t0001g0058 a0026c0077t0001g0018 a0029c0110t0001g0162 a0031c0118t0001g0074 a0032c0106t0001g0154 a0038c0084t0001g0169 a0040c0096t0002g0089 a0043c0119t0001g0071 a0044c0086t0001g0143 a0047c0117t0001g0072 a0049c0112t0001g0106 a0051c0113t0001g0078 a0052c0094t0001g0098 a0055c0023t0001g0009 a0057c0101t0001g0144 a0058c0114t0005g0079 a0059c0111t0001g0116 a0061c0087t0001g0108 a0067c0133t0001g0057 a0068c0052t0001g0017 a0070c0073t0001g0016 a0071c0088t0001g0013 a0075c0124t0001g0083 a0085c0120t0001g0077 a0087c0109t0001g0113 a0091c0104t0001g0131 a0092c0098t0001g0124 a0094c0095t0001g0163 a0096c0103t0001g0100 a0100c0067t0001g0010 a0101c0105t0001g0140 a0102c0044t0001g0167 a0103c0045t0001g0024	94	186	0.5054	21	c.328 others(38): Show c.3282+143_3282+163dupCTCCTGCCTCCTGCCTCCTGC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	26/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349677	A A	ATGGGGGT others(14): Show ATGGGGGTGATGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01256.hp2 HG01358.hp2 others(10): Show HG01074.hp2 HG01256.hp2 HG01358.hp2 HG01496.hp2 HG01975.hp1 HG01993.hp2 HG02109.hp1 HG02273.hp2 HG02647.hp1 HG02717.hp1 HG02976.hp2 NA18966.hp1 NA19007.hp2	a0003 a0005 a0009 others(6): Show a0003 a0005 a0009 a0020 a0025 a0046 a0064 a0077 a0095	a0003c0002 a0005c0026 a0005c0027 others(8): Show a0003c0002 a0005c0026 a0005c0027 a0009c0008 a0020c0126 a0020c0135 a0025c0061 a0046c0071 a0064c0058 a0077c0127 a0095c0057	a0003c0002t0001 a0005c0026t0001 a0005c0027t0001 others(8): Show a0003c0002t0001 a0005c0026t0001 a0005c0027t0001 a0009c0008t0001 a0020c0126t0001 a0020c0135t0001 a0025c0061t0001 a0046c0071t0001 a0064c0058t0001 a0077c0127t0001 a0095c0057t0001	a0003c0002t0001g0028 a0005c0026t0001g0003 a0005c0027t0001g0002 others(10): Show a0003c0002t0001g0028 a0005c0026t0001g0003 a0005c0027t0001g0002 a0009c0008t0001g0044 a0009c0008t0001g0045 a0009c0008t0001g0046 a0020c0126t0001g0065 a0020c0135t0001g0064 a0025c0061t0001g0047 a0046c0071t0001g0042 a0064c0058t0001g0036 a0077c0127t0001g0066 a0095c0057t0001g0043	13	186	0.0699	21	c.956 others(38): Show c.956+2006_956+2026dupCCATCACCATCATCACCCCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349764	A A	AGTGGGGG others(14): Show AGTGGGGGTGATGACGGTGATG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0099 a0099	a0099c0078 a0099c0078	a0099c0078t0001 a0099c0078t0001	a0099c0078t0001g0055 a0099c0078t0001g0055	1	186	0.0054	21	c.956 others(38): Show c.956+1919_956+1939dupCATCACCGTCATCACCCCCAC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349826	T T	TGGTGGGG others(14): Show TGGTGGGGGTGATGACGGTGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0001 a0005c0024t0001	a0005c0024t0001g0007 a0005c0024t0001g0007	1	186	0.0054	21	c.956 others(38): Show c.956+1877_956+1878insCCCACCGTCATCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMC3_chr9_131004174_131099473	131046518	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0097 a0097	a0097c0154 a0097c0154	a0097c0154t0003 a0097c0154t0003	a0097c0154t0003g0218 a0097c0154t0003g0218	1	360	0.0028	21	c.151 others(38): Show c.1519+864_1519+884dupTTTTTTTTTTTTTTTTTTTTT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMC3_chr9_131004174_131099473	131047165	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0041 a0041	a0041c0126 a0041c0126	a0041c0126t0002 a0041c0126t0002	a0041c0126t0002g0133 a0041c0126t0002g0133	1	360	0.0028	21	c.151 others(40): Show c.1519+1522_1519+1523insTTTTTTTTTTTTTTTTTTTTT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	372	0.0027	21	c.888 others(38): Show c.888+2800_888+2801insATATATATATATATATTTTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0034 a0001c0003t0002g0034	1	372	0.0027	21	c.888 others(38): Show c.888+2800_888+2801insATATATATATATATATATTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03540.hp2 HG02132.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0002c0004t0002 a0001c0003t0001 a0002c0004t0002	a0001c0003t0001g0184 a0002c0004t0002g0063 a0001c0003t0001g0184 a0002c0004t0002g0063	2	372	0.0054	21	c.888 others(38): Show c.888+2800_888+2801insATATATATATATATATATATT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0051 a0001c0003t0002g0051	1	372	0.0027	21	c.888 others(38): Show c.888+2800_888+2801insATATATATATATATATATATA	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LANCL2_chr7_55360337_55438737	55415621	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19030.hp2 HG03516.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0079 a0001c0004t0014g0080 a0001c0004t0014g0079 a0001c0004t0014g0080	2	352	0.0057	21	c.100 others(40): Show c.1008+3540_1008+3541insTTTTTTTTTTTTTTTTTTTTT	LANCL2	ENSG00000132434.10	transcript	ENST00000254770.3	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
LAPTM4B_chr8_97770788_97858013	97772260	C C	CCACTGCA others(14): Show CCACTGCACTCCAGCCCAGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG00741.hp1 others(22): Show HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG02004.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03209.hp1 HG03491.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 others(5): Show a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0026	a0001c0002t0009g0167 a0001c0002t0009g0169 a0001c0002t0009g0249 others(22): Show a0001c0002t0009g0167 a0001c0002t0009g0169 a0001c0002t0009g0249 a0001c0002t0009g0251 a0001c0002t0009g0252 a0001c0002t0009g0375 a0001c0002t0009g0377 a0001c0002t0009g0378 a0001c0002t0009g0380 a0001c0002t0015g0168 a0001c0002t0015g0246 a0001c0002t0015g0248 a0001c0002t0015g0250 a0001c0002t0017g0239 a0001c0002t0017g0240 a0001c0002t0017g0241 a0001c0002t0018g0166 a0001c0002t0018g0243 a0001c0002t0019g0165 a0001c0002t0019g0247 a0001c0002t0020g0376 a0001c0002t0020g0379 a0001c0002t0021g0242 a0001c0002t0021g0245 a0001c0002t0026g0244	25	380	0.0658	21	c.-37 others(32): Show c.-3750_-3749insCACTGCACTCCAGCCCAGCGA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding		3527		chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97800484	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	1	380	0.0026	21	c.100 others(38): Show c.100-4862_100-4842dupTTTTTTTTTTTTTTTTTTTTT	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(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01496.hp2 HG02027.hp1 others(14): Show HG00621.hp1 HG01496.hp2 HG02027.hp1 HG02280.hp1 HG02615.hp1 HG03486.hp1 HG03516.hp2 NA18944.hp2 NA18957.hp1 NA18971.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0027 a0001c0002t0009	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 others(14): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0134 a0001c0001t0001g0319 a0001c0001t0003g0091 a0001c0001t0003g0262 a0001c0001t0004g0170 a0001c0001t0005g0144 a0001c0001t0006g0119 a0001c0001t0027g0302 a0001c0002t0009g0252	17	380	0.0447	21	c.603 others(38): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33651225	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01517.hp2 HG02647.hp1 others(2): Show HG00621.hp2 HG01517.hp2 HG02647.hp1 HG02809.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0053 a0001c0001t0002g0085 a0001c0001t0004g0030 others(2): Show a0001c0001t0001g0053 a0001c0001t0002g0085 a0001c0001t0004g0030 a0001c0001t0006g0007 a0001c0002t0001g0037	5	110	0.0455	21	c.107 others(36): Show c.107-558_107-557insTTTTTTTTTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33865832	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02897.hp1 HG03453.hp2 HG02258.hp2 HG02897.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0018 a0001c0001 a0002c0018	a0001c0001t0001 a0002c0018t0008 a0001c0001t0001 a0002c0018t0008	a0001c0001t0001g0044 a0001c0001t0001g0053 a0002c0018t0008g0068 a0001c0001t0001g0044 a0001c0001t0001g0053 a0002c0018t0008g0068	3	110	0.0273	21	c.-83 others(40): Show c.-83+54142_-83+54162dupAAAAAAAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33878129	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	110	0.0091	21	c.-83 others(40): Show c.-83+41845_-83+41865dupAAAAAAAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02970.hp1 NA18522.hp1 HG02896.hp2 HG02970.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0002t0005 a0002c0003t0005 a0002c0002t0002 a0002c0002t0005 a0002c0003t0005	a0002c0002t0002g0050 a0002c0002t0005g0097 a0002c0003t0005g0122 a0002c0002t0002g0050 a0002c0002t0005g0097 a0002c0003t0005g0122	3	336	0.0089	21	c.988 others(38): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAAAA	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(14): Show GTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01993.hp2 HG02080.hp2 HG00738.hp1 HG01993.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0150 a0001c0001t0001g0171 a0001c0001t0001g0180	3	336	0.0089	21	c.152 others(42): Show c.1525-18398_1525-18397insTGTGTGTGTGTGTGTGTGTGT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	11/19			chr4	TogoVar
LARP4_chr12_50395885_50485004	50420947	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19043.hp2 HG02922.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0145 a0001c0001t0005g0147 a0001c0001t0005g0145 a0001c0001t0005g0147	2	318	0.0063	21	c.19- others(36): Show c.19-6798_19-6797insTTTTTTTTTTTTTTTTTTTTT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01943.hp1 HG02027.hp1 others(5): Show HG01934.hp1 HG01943.hp1 HG02027.hp1 HG02071.hp1 NA18959.hp1 NA18969.hp2 NA18990.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0199 a0001c0001t0001g0201 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0258 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0287	8	318	0.0252	21	c.804 others(38): Show c.804+4787_804+4788insATATATATATATATATATATT	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(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03491.hp2 others(1): Show HG03098.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0263 others(1): Show a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0263 a0001c0001t0001g0290	4	318	0.0126	21	c.804 others(38): Show c.804+4787_804+4788insATATATATATATATATATTTT	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(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18973.hp2 NA19002.hp2 NA18945.hp1 NA18973.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0062 a0001c0002t0001g0100 a0001c0002t0001g0047 a0001c0002t0001g0062 a0001c0002t0001g0100	3	242	0.0124	21	c.101 others(40): Show c.1019-1074_1019-1073insTATATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484620	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03516.hp1 HG00738.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0231 a0001c0002t0003g0140 a0001c0002t0001g0231 a0001c0002t0003g0140	2	242	0.0083	21	c.101 others(40): Show c.1019-1072_1019-1071insTATATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484622	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03490.hp1 HG02970.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0134 a0001c0002t0001g0120 a0001c0002t0001g0134	2	242	0.0083	21	c.101 others(40): Show c.1019-1070_1019-1069insTATATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484624	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA20805.hp1 NA18964.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0018 a0001c0002t0001 a0001c0002t0018	a0001c0002t0001g0066 a0001c0002t0018g0228 a0001c0002t0001g0066 a0001c0002t0018g0228	2	242	0.0083	21	c.101 others(40): Show c.1019-1068_1019-1067insTATATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	242	0.0041	21	c.101 others(40): Show c.1019-1061_1019-1060insAAAAAAATATATATATATATA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0130 a0001c0007t0001g0130	1	242	0.0041	21	c.101 others(40): Show c.1019-1061_1019-1060insAAATATATATATATATATATA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0131 a0001c0007t0001g0131	1	242	0.0041	21	c.101 others(40): Show c.1019-1062_1019-1061insTATATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LATS2_chr13_20968036_21066586	20969898	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0256 a0004c0004t0005g0256	1	316	0.0032	21	c.49 others(32): Show c.4971_*4972insTTTTTTTTTTTTTTTTTTTTT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding		3137		chr13	TogoVar
LATS2_chr13_20968036_21066586	21007573	A A	ATATATAT others(14): Show ATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	316	0.0032	21	c.343 others(40): Show c.343-16170_343-16169insCTATATATATATATATATATA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21007683	G G	GTGTGTAT others(14): Show GTGTGTATATATATAGTGTATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0099 a0001c0001t0010g0099	1	316	0.0032	21	c.343 others(40): Show c.343-16280_343-16279insTATACACTATATATATACACA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LAX1_chr1_203760183_203781372	203767303	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0392 a0001c0001t0012g0392	1	422	0.0024	21	c.89+ others(36): Show c.89+1650_89+1670dupTTTTTTTTTTTTTTTTTTTTT	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAX1_chr1_203760183_203781372	203770433	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	422	0.0024	21	c.90- others(34): Show c.90-395_90-394insGAGAGAGAGAGAGAGAGAGAG	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4			chr1	TogoVar
LCA5L_chr21_39400728_39450778	39428598	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG04115.hp2 HG01993.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0087 a0001c0001t0001g0092	2	340	0.0059	21	c.-10 others(34): Show c.-10-96_-10-95insAAATATATATATATATATATA	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar

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