Joint Open Genome and Omics Platform (JoGo)

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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
LAMA2_chr6_128878138_129521566	129410714	TTAGATAG others(13): Show TTAGATAGATAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(50): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG01074.hp2 HG01192.hp1 HG01261.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03688.hp1 HG03710.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19084.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0013 a0014 a0015 a0016 a0019 a0020 a0022 a0025 a0026 a0028 a0031 a0032 a0034	a0001c0001 a0001c0011 a0002c0003 others(36): Show a0001c0001 a0001c0011 a0002c0003 a0002c0004 a0002c0029 a0002c0054 a0002c0056 a0003c0018 a0003c0041 a0003c0044 a0003c0051 a0004c0002 a0004c0020 a0004c0031 a0005c0015 a0005c0042 a0005c0050 a0006c0046 a0006c0047 a0007c0007 a0008c0005 a0009c0043 a0009c0070 a0011c0008 a0013c0022 a0013c0028 a0014c0010 a0015c0069 a0016c0024 a0016c0064 a0019c0055 a0020c0023 a0022c0025 a0025c0057 a0026c0037 a0028c0021 a0031c0060 a0032c0052 a0034c0045	a0001c0001t0001 a0001c0011t0001 a0001c0011t0002 others(40): Show a0001c0001t0001 a0001c0011t0001 a0001c0011t0002 a0002c0003t0003 a0002c0003t0005 a0002c0004t0001 a0002c0004t0007 a0002c0029t0002 a0002c0054t0004 a0002c0056t0003 a0003c0018t0001 a0003c0041t0004 a0003c0044t0003 a0003c0051t0001 a0004c0002t0001 a0004c0002t0002 a0004c0020t0008 a0004c0031t0002 a0005c0015t0001 a0005c0042t0002 a0005c0050t0001 a0006c0046t0001 a0006c0047t0006 a0007c0007t0002 a0008c0005t0003 a0009c0043t0002 a0009c0070t0001 a0011c0008t0002 a0013c0022t0003 a0013c0028t0003 a0014c0010t0003 a0015c0069t0004 a0016c0024t0004 a0016c0064t0004 a0019c0055t0002 a0020c0023t0002 a0022c0025t0001 a0025c0057t0003 a0026c0037t0001 a0028c0021t0005 a0031c0060t0001 a0032c0052t0001 a0034c0045t0002	a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0056 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0011t0001g0040 a0001c0011t0002g0003 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0003t0005g0010 a0002c0004t0001g0033 a0002c0004t0007g0024 a0002c0029t0002g0064 a0002c0054t0004g0049 a0002c0056t0003g0077 a0003c0018t0001g0032 a0003c0041t0004g0059 a0003c0044t0003g0020 a0003c0051t0001g0008 a0004c0002t0001g0065 a0004c0002t0002g0021 a0004c0002t0002g0083 a0004c0020t0008g0027 a0004c0031t0002g0005 a0005c0015t0001g0061 a0005c0042t0002g0007 a0005c0050t0001g0060 a0006c0046t0001g0066 a0006c0047t0006g0026 a0007c0007t0002g0009 a0007c0007t0002g0081 a0008c0005t0003g0034 a0008c0005t0003g0035 a0009c0043t0002g0047 a0009c0070t0001g0051 a0011c0008t0002g0084 a0011c0008t0002g0085 a0013c0022t0003g0017 a0013c0028t0003g0011 a0014c0010t0003g0054 a0014c0010t0003g0082 a0015c0069t0004g0068 a0016c0024t0004g0055 a0016c0064t0004g0076 a0019c0055t0002g0030 a0020c0023t0002g0086 a0022c0025t0001g0029 a0025c0057t0003g0043 a0026c0037t0001g0063 a0028c0021t0005g0014 a0031c0060t0001g0044 a0032c0052t0001g0018 a0034c0045t0002g0006	53	88	0.6023	-20	c.586 others(39): Show c.5865+6778_5865+6797delGATAGATAGATAGATAGATA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	40/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA3_chr18_23684453_23960066	23884047	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18973.hp2 NA18975.hp1 others(3): Show NA18964.hp2 NA18973.hp2 NA18975.hp1 NA19011.hp2 NA19058.hp2 NA21309.hp2	a0001 a0035 a0001 a0035	a0001c0002 a0035c0030 a0001c0002 a0035c0030	a0001c0002t0001 a0035c0030t0004 a0001c0002t0001 a0035c0030t0004	a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0102 others(3): Show a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0102 a0001c0002t0001g0118 a0001c0002t0001g0267 a0035c0030t0004g0245	6	280	0.0214	-20	c.522 others(37): Show c.5223-693_5223-674delGTGTGTGTGTGTGTGTGTGT	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	40/74		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA3_chr18_23684453_23960066	23892047	TCTGAGAC others(13): Show TCTGAGACATAAGGGACAGAA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0266 a0003c0004t0001g0266	1	280	0.0036	-20	c.541 others(39): Show c.5410+1933_5410+1952delGAGACATAAGGGACAGAACT	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	42/74		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA3_chr18_23868020_23960066	23884047	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18973.hp1 NA18975.hp2 others(6): Show NA18964.hp2 NA18973.hp1 NA18975.hp2 NA18995.hp2 NA19011.hp1 NA19054.hp2 NA19058.hp1 NA19077.hp1 NA21309.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0024c0026 a0001c0001 a0024c0026	a0001c0001t0001 a0024c0026t0004 a0001c0001t0001 a0024c0026t0004	a0001c0001t0001g0013 a0001c0001t0001g0164 a0001c0001t0001g0165 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0200 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0024c0026t0004g0306	9	334	0.0270	-20	c.396 others(35): Show c.396-693_396-674delGTGTGTGTGTGTGTGTGTGT	LAMA3	ENSG00000053747.17	transcript	ENST00000269217.11	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA3_chr18_23868020_23960066	23892047	TCTGAGAC others(13): Show TCTGAGACATAAGGGACAGAA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0285 a0001c0003t0001g0285	1	334	0.0030	-20	c.583 others(37): Show c.583+1933_583+1952delGAGACATAAGGGACAGAACT	LAMA3	ENSG00000053747.17	transcript	ENST00000269217.11	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA4_chr6_112102931_112259567	112167840	TCACACAC others(13): Show TCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0261 a0005c0008t0001g0261	1	314	0.0032	-20	c.155 others(39): Show c.1552-2584_1552-2565delTGTGTGTGTGTGTGTGTGTG	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	12/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190871	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	314	0.0032	-20	c.718 others(35): Show c.718+745_718+764delGAAAGAAAGAAAGAAAGAAA	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190931	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01256.hp2 HG01258.hp2 others(4): Show HG00673.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG04204.hp2 NA18980.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0022 a0001c0034 others(1): Show a0001c0001 a0001c0022 a0001c0034 a0002c0003	a0001c0001t0001 a0001c0022t0002 a0001c0034t0001 others(1): Show a0001c0001t0001 a0001c0022t0002 a0001c0034t0001 a0002c0003t0002	a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0220 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0022t0002g0012 a0001c0034t0001g0108 a0002c0003t0002g0221	7	314	0.0223	-20	c.718 others(35): Show c.718+685_718+704delAAAGGAAAGAAAGAAAGAAA	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190932	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01934.hp2 NA18979.hp1 HG00741.hp2 HG01934.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0002c0006t0002 a0001c0002t0001 a0002c0006t0002	a0001c0002t0001g0133 a0002c0006t0002g0145 a0002c0006t0002g0264 a0001c0002t0001g0133 a0002c0006t0002g0145 a0002c0006t0002g0264	3	314	0.0096	-20	c.718 others(35): Show c.718+684_718+703delGAAAGGAAAGAAAGAAAGAA	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190935	CTTTCTTT others(13): Show CTTTCTTTCTTTCCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03453.hp1 NA18942.hp2 HG01071.hp1 HG03453.hp1 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0024 a0001c0001 a0002c0003 a0002c0024	a0001c0001t0001 a0002c0003t0002 a0002c0024t0001 a0001c0001t0001 a0002c0003t0002 a0002c0024t0001	a0001c0001t0001g0167 a0002c0003t0002g0064 a0002c0024t0001g0172 a0001c0001t0001g0167 a0002c0003t0002g0064 a0002c0024t0001g0172	3	314	0.0096	-20	c.718 others(35): Show c.718+681_718+700delAAAGAAAGGAAAGAAAGAAA	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190936	TTTCTTTC others(13): Show TTTCTTTCTTTCCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03017.hp1 HG03942.hp2 HG01167.hp2 HG03017.hp1 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0006 a0001c0002 a0001c0005 a0002c0006	a0001c0002t0001 a0001c0005t0001 a0002c0006t0002 a0001c0002t0001 a0001c0005t0001 a0002c0006t0002	a0001c0002t0001g0309 a0001c0005t0001g0138 a0002c0006t0002g0125 a0001c0002t0001g0309 a0001c0005t0001g0138 a0002c0006t0002g0125	3	314	0.0096	-20	c.718 others(35): Show c.718+680_718+699delGAAAGAAAGGAAAGAAAGAA	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190939	CTTTCTTT others(13): Show CTTTCTTTCCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19090.hp1 HG02132.hp2 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0004c0010t0012 a0001c0001t0001 a0004c0010t0012	a0001c0001t0001g0204 a0004c0010t0012g0177 a0001c0001t0001g0204 a0004c0010t0012g0177	2	314	0.0064	-20	c.718 others(35): Show c.718+677_718+696delAAAGAAAGAAAGGAAAGAAA	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112241152	TATATATA others(13): Show TATATATATGAATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA21309.hp2 HG02257.hp1 NA21309.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0154 a0001c0011t0003g0298 a0001c0011t0003g0154 a0001c0011t0003g0298	2	314	0.0064	-20	c.195 others(39): Show c.195+12784_195+12803delTCATATATATTCATATATAT	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	2/38			chr6	TogoVar
LAMC1_chr1_183018420_183150592	183081549	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02015.hp1 HG03195.hp2 others(3): Show HG01891.hp1 HG02015.hp1 HG03195.hp2 HG03471.hp2 NA18982.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0016 others(1): Show a0001c0002 a0001c0003 a0001c0016 a0001c0020	a0001c0002t0002 a0001c0003t0003 a0001c0016t0001 others(1): Show a0001c0002t0002 a0001c0003t0003 a0001c0016t0001 a0001c0020t0026	a0001c0002t0002g0048 a0001c0002t0002g0109 a0001c0003t0003g0252 others(3): Show a0001c0002t0002g0048 a0001c0002t0002g0109 a0001c0003t0003g0252 a0001c0016t0001g0094 a0001c0016t0001g0096 a0001c0020t0026g0132	6	308	0.0195	-20	c.419 others(39): Show c.419-21742_419-21723delAAATAAATAAATAAATAAAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC3_chr9_131004174_131099473	131077676	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0095 a0001c0095	a0001c0095t0020 a0001c0095t0020	a0001c0095t0020g0063 a0001c0095t0020g0063	1	360	0.0028	-20	c.377 others(37): Show c.3777+360_3777+379delAAAAAAAAAAAAAAAAAAAA	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP1_chr13_113292239_113328672	113301636	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	354	0.0028	-20	c.61+ others(35): Show c.61+4143_61+4162delAAAAAAAATATATATATATA	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301638	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	354	0.0028	-20	c.61+ others(35): Show c.61+4145_61+4164delAAAAAATATATATATATATA	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301640	AAAAAATA others(13): Show AAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0048 a0004c0004t0004g0048	1	354	0.0028	-20	c.61+ others(35): Show c.61+4147_61+4166delAAAATATATATATATATATA	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301642	AAAATATA others(13): Show AAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0020	a0004c0004t0020g0317 a0004c0004t0020g0317	1	354	0.0028	-20	c.61+ others(35): Show c.61+4149_61+4168delAATATATATATATATATATA	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113326365	AGGGTGGC others(13): Show AGGGTGGCGCGGTGGGGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG03471.hp2 others(1): Show HG01243.hp1 HG01496.hp2 HG03471.hp2 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0009 a0001c0001 a0001c0005 a0006c0009	a0001c0001t0001 a0001c0005t0021 a0006c0009t0018 others(1): Show a0001c0001t0001 a0001c0005t0021 a0006c0009t0018 a0006c0009t0019	a0001c0001t0001g0117 a0001c0005t0021g0076 a0006c0009t0018g0078 others(1): Show a0001c0001t0001g0117 a0001c0005t0021g0076 a0006c0009t0018g0078 a0006c0009t0019g0077	4	354	0.0113	-20	c.39 others(31): Show c.3945_*3964delGGGTGGCGCGGTGGGGGGGG	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding		2694		chr13	TogoVar
LAMP2_chrX_120421148_120474296	120436129	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	297	0.0034	-20	c.109 others(39): Show c.1094-4687_1094-4668delGTGTGTGTGTGTGTGTGTGT	LAMP2	ENSG00000005893.17	transcript	ENST00000200639.9	protein_coding	8/8			chrX	TogoVar
LAMP5_chr20_9509590_9535524	9526858	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG01884.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0287 a0001c0001t0002g0355 a0001c0001t0001g0287 a0001c0001t0002g0355	2	448	0.0045	-20	c.665 others(37): Show c.665-2782_665-2763delGTATATATATATATATATAT	LAMP5	ENSG00000125869.10	transcript	ENST00000246070.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
LAMP5_chr20_9509590_9535524	9526860	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01515.hp2 HG02145.hp2 others(9): Show HG00639.hp1 HG01515.hp2 HG02145.hp2 HG02717.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0048 a0001c0001t0001g0153 a0001c0001t0003g0038 others(7): Show a0001c0001t0001g0048 a0001c0001t0001g0153 a0001c0001t0003g0038 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0186 a0002c0002t0001g0350 a0002c0002t0001g0353 a0003c0003t0001g0063	12	448	0.0268	-20	c.665 others(37): Show c.665-2759_665-2740delTATATATATATATATATATA	LAMP5	ENSG00000125869.10	transcript	ENST00000246070.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
LANCL1_chr2_210426251_210481759	210454219	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01943.hp1 HG01978.hp2 others(19): Show HG01123.hp1 HG01943.hp1 HG01978.hp2 HG02257.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02922.hp1 HG03041.hp1 NA18957.hp1 NA18974.hp1 NA18977.hp2 NA18991.hp2 NA19001.hp2 NA19010.hp2 NA19055.hp2 NA19060.hp1 NA19063.hp1 NA19077.hp2 NA19082.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0020 a0001c0001t0021	a0001c0001t0001g0002 a0001c0001t0001g0134 a0001c0001t0001g0135 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0005g0255 a0001c0001t0010g0041 a0001c0001t0010g0043 a0001c0001t0010g0045 a0001c0001t0010g0047 a0001c0001t0020g0044 a0001c0001t0021g0042	22	358	0.0615	-20	c.407 others(35): Show c.407+868_407+887delGTGTGTGTGTGTGTGTGTGT	LANCL1	ENSG00000115365.13	transcript	ENST00000450366.7	protein_coding	4/9			chr2	TogoVar
LAPTM4B_chr8_97770788_97858013	97789038	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00558.hp1 others(115): Show HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 NA18522.hp2 NA18747.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA19000.hp1 NA19065.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0022 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0002t0026 a0001c0005t0001 a0002c0003t0005 a0002c0003t0013 a0003c0006t0005	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 others(115): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0337 a0001c0001t0002g0010 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0068 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0150 a0001c0001t0002g0157 a0001c0001t0002g0338 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0364 a0001c0001t0003g0014 a0001c0001t0003g0041 a0001c0001t0003g0051 a0001c0001t0003g0065 a0001c0001t0003g0070 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0091 a0001c0001t0003g0141 a0001c0001t0003g0149 a0001c0001t0003g0160 a0001c0001t0003g0278 a0001c0001t0003g0347 a0001c0001t0005g0011 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0050 a0001c0001t0005g0059 a0001c0001t0005g0136 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0161 a0001c0001t0005g0321 a0001c0001t0005g0335 a0001c0001t0005g0361 a0001c0001t0006g0040 a0001c0001t0006g0042 a0001c0001t0006g0120 a0001c0001t0006g0128 a0001c0001t0006g0162 a0001c0001t0008g0012 a0001c0001t0011g0280 a0001c0001t0022g0049 a0001c0001t0030g0066 a0001c0001t0033g0048 a0001c0001t0035g0205 a0001c0002t0009g0167 a0001c0002t0009g0249 a0001c0002t0009g0251 a0001c0002t0009g0375 a0001c0002t0009g0377 a0001c0002t0009g0378 a0001c0002t0015g0168 a0001c0002t0017g0239 a0001c0002t0017g0240 a0001c0002t0018g0166 a0001c0002t0020g0376 a0001c0002t0020g0379 a0001c0002t0026g0244 a0001c0005t0001g0017 a0001c0005t0001g0024 a0002c0003t0005g0127 a0002c0003t0005g0351 a0002c0003t0013g0191 a0002c0003t0013g0216 a0002c0003t0013g0217 a0003c0006t0005g0035	118	380	0.3105	-20	c.99+ others(37): Show c.99+12962_99+12981delATTTATTTATTTATTTATTT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97822528	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0205 a0001c0001t0035g0205	1	380	0.0026	-20	c.508 others(37): Show c.508-2507_508-2488delTATTTATTTATTTATTTATT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33452863	ACATGCTC others(13): Show ACATGCTCATTTCCTTTACTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02055.hp1 others(3): Show HG01243.hp2 HG01891.hp2 HG02055.hp1 HG02451.hp1 HG02809.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 a0001c0004t0001 a0001c0006t0029	a0001c0001t0001g0072 a0001c0001t0005g0028 a0001c0001t0006g0007 others(3): Show a0001c0001t0001g0072 a0001c0001t0005g0028 a0001c0001t0006g0007 a0001c0001t0018g0067 a0001c0004t0001g0005 a0001c0006t0029g0108	6	110	0.0546	-20	c.788 others(39): Show c.788-20618_788-20599delAAGTAAAGGAAATGAGCATG	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33475424	ATATTTAT others(13): Show ATATTTATTTATTTATTTATT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0095 a0001c0001t0013g0095	1	110	0.0091	-20	c.788 others(39): Show c.788-43179_788-43160delAATAAATAAATAAATAAATA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33574686	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp2 HG03453.hp2 HG02647.hp1 HG02818.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0011 a0001c0001t0001 a0001c0001t0004 a0001c0003t0011	a0001c0001t0001g0053 a0001c0001t0004g0030 a0001c0003t0011g0018 a0001c0001t0001g0053 a0001c0001t0004g0030 a0001c0003t0011g0018	3	110	0.0273	-20	c.616 others(37): Show c.616-9687_616-9668delCACACACACACACACACACA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	5/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33713966	AATAACGT others(13): Show AATAACGTAACATAACGTAAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp2 HG02897.hp2 HG02615.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0025g0087 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0025g0087	3	110	0.0273	-20	c.106 others(39): Show c.106+47385_106+47404delGTTACGTTATGTTACGTTAT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33766913	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03654.hp1 NA18906.hp1 others(1): Show HG02897.hp1 HG03654.hp1 NA18906.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(1): Show a0001c0001 a0001c0003 a0001c0013 a0002c0018	a0001c0001t0006 a0001c0003t0011 a0001c0013t0001 others(1): Show a0001c0001t0006 a0001c0003t0011 a0001c0013t0001 a0002c0018t0008	a0001c0001t0006g0052 a0001c0003t0011g0063 a0001c0013t0001g0036 others(1): Show a0001c0001t0006g0052 a0001c0003t0011g0063 a0001c0013t0001g0036 a0002c0018t0008g0068	4	110	0.0364	-20	c.-82 others(37): Show c.-82-5375_-82-5356delATATATATATATATATATAT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33816685	TAGATAGA others(13): Show TAGATAGACAGACAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	110	0.0091	-20	c.-82 others(39): Show c.-82-55147_-82-55128delGTCTGTCTGTCTGTCTATCT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33817901	GGAGGGAG others(13): Show GGAGGGAGGAAAGGGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01255.hp1 HG01071.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0026 a0001c0016t0020 a0001c0001t0026 a0001c0016t0020	a0001c0001t0026g0091 a0001c0016t0020g0002 a0001c0001t0026g0091 a0001c0016t0020g0002	2	110	0.0182	-20	c.-82 others(39): Show c.-82-56363_-82-56344delTCCTCCCCCTTTCCTCCCTC	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33852864	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02559.hp2 HG02717.hp1 others(8): Show HG01099.hp2 HG02559.hp2 HG02717.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03453.hp1 HG03540.hp1 NA18522.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0001c0009 a0001c0012 a0001c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0004t0005 a0001c0007t0010 a0001c0009t0003 a0001c0012t0019 a0001c0019t0003	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0004g0045 others(8): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0004g0045 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0076 a0001c0004t0005g0026 a0001c0007t0010g0006 a0001c0009t0003g0084 a0001c0012t0019g0029 a0001c0019t0003g0025	11	110	0.1000	-20	c.-83 others(39): Show c.-83+67111_-83+67130delCTTTCTTTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128065249	ATTAATTT others(13): Show ATTAATTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0212 a0001c0001t0003g0125 a0001c0001t0003g0212	2	336	0.0060	-20	c.-78 others(37): Show c.-78+3851_-78+3870delAATTTCTTTCTTTCTTTCTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128065253	ATTTCTTT others(13): Show ATTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18989.hp2 NA19007.hp1 others(1): Show HG02523.hp2 NA18989.hp2 NA19007.hp1 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0307 a0002c0002t0002g0331 a0002c0002t0002g0333 others(1): Show a0002c0002t0002g0307 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0002t0002g0334	4	336	0.0119	-20	c.-78 others(37): Show c.-78+3898_-78+3917delTTCTTTCTTTCTTTCTTTCT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128129164	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 NA19240.hp1 HG02109.hp2 HG02280.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0081 a0002c0002t0002g0118 a0002c0002t0002g0041 a0002c0002t0002g0081 a0002c0002t0002g0118	3	336	0.0089	-20	c.152 others(39): Show c.1524+6997_1524+7016delAAAAAAAAAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4_chr12_50395885_50485004	50397772	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01433.hp1 HG02809.hp2 others(6): Show HG00140.hp2 HG01433.hp1 HG02809.hp2 HG03017.hp1 HG03017.hp2 HG04228.hp1 NA18993.hp1 NA19030.hp1 NA19055.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0003c0003t0001	a0001c0001t0001g0174 a0001c0001t0002g0082 a0001c0001t0002g0095 others(6): Show a0001c0001t0001g0174 a0001c0001t0002g0082 a0001c0001t0002g0095 a0001c0001t0002g0123 a0001c0001t0002g0135 a0001c0001t0015g0317 a0003c0003t0001g0162 a0003c0003t0001g0165 a0003c0003t0001g0186	9	318	0.0283	-20	c.-32 others(31): Show c.-3238_-3219delTCCTTCCTTCCTTCCTTCCT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding		3112		chr12	TogoVar
LARP4_chr12_50395885_50485004	50421643	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp1 NA18984.hp1 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0011 a0001c0012 others(2): Show a0001c0001 a0001c0011 a0001c0012 a0005c0007 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0011t0002 a0001c0012t0002 a0005c0007t0002 a0007c0013t0002	a0001c0001t0001g0022 a0001c0001t0002g0013 a0001c0001t0002g0014 others(123): Show a0001c0001t0001g0022 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0009g0048 a0001c0001t0009g0059 a0001c0001t0017g0304 a0001c0001t0018g0012 a0001c0001t0019g0134 a0001c0011t0002g0191 a0001c0012t0002g0066 a0005c0007t0002g0084 a0005c0007t0002g0119 a0005c0007t0002g0136 a0007c0013t0002g0101	126	318	0.3962	-20	c.19- others(35): Show c.19-6092_19-6073delATAAATAAATAAATAAATAA	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50426684	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG03225.hp2 HG01109.hp1 HG02572.hp1 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0108 a0001c0006t0007g0109 a0001c0006t0007g0110 a0001c0006t0007g0108 a0001c0006t0007g0109 a0001c0006t0007g0110	3	318	0.0094	-20	c.19- others(35): Show c.19-1050_19-1031delTGTGTGTGTGTGTGTGTGTG	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50426713	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGGT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0111 a0001c0010t0007g0111	1	318	0.0031	-20	c.19- others(35): Show c.19-1047_19-1028delGTGTGTGTGTGTGTGTGGTT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARS1_chr5_146108034_146187650	146174571	CATATATG others(13): Show CATATATGTATATATCCATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00735.hp1 others(4): Show HG00099.hp2 HG00639.hp1 HG00735.hp1 HG01099.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0001 a0001c0004t0005g0172 a0001c0004t0005g0173 others(2): Show a0001c0004t0005g0001 a0001c0004t0005g0172 a0001c0004t0005g0173 a0001c0004t0005g0174 a0001c0004t0005g0191	7	284	0.0247	-20	c.126 others(37): Show c.126-1817_126-1798delATATGGATATATACATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LAS1L_chrX_65507582_65539787	65538508	ATATATAT others(13): Show ATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	203	0.0049	-20	c.-38 others(31): Show c.-3813_-3794delAATATATATATATATATATA	LAS1L	ENSG00000001497.18	transcript	ENST00000374811.8	protein_coding		3722		chrX	TogoVar
LASP1NB_chr17_38920614_38934381	38923649	GAATAAAT others(13): Show GAATAAATAAATAAATAAATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-20	c.-20 others(31): Show c.-2044_-2025delAATAAATAAATAAATAAATA	LASP1NB	ENSG00000263874.3	transcript	ENST00000583195.3	protein_coding		1964		chr17	TogoVar
LASP1_chr17_38865058_38926770	38892551	GACACACA others(13): Show GACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18969.hp2 HG01106.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0287 a0001c0002t0002g0159 a0001c0001t0001g0287 a0001c0002t0002g0159	2	396	0.0051	-20	c.249 others(37): Show c.249+2068_249+2087delACACACACACACACACACAC	LASP1	ENSG00000002834.19	transcript	ENST00000318008.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
LASP1_chr17_38865058_38926770	38923649	GAATAAAT others(13): Show GAATAAATAAATAAATAAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0016 a0001c0013t0016	a0001c0013t0016g0094 a0001c0013t0016g0094	1	396	0.0025	-20	c.48 others(31): Show c.4872_*4891delAATAAATAAATAAATAAATA	LASP1	ENSG00000002834.19	transcript	ENST00000318008.11	protein_coding		1880		chr17	TogoVar
LAT2_chr7_74205006_74234834	74214591	TATATATG others(13): Show TATATATGAAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01346.hp2 others(13): Show HG00741.hp2 HG01123.hp2 HG01346.hp2 HG01884.hp2 HG01934.hp2 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02738.hp2 HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03453.hp1 HG03579.hp1 NA18984.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0244 a0001c0001t0001g0260 others(13): Show a0001c0001t0001g0030 a0001c0001t0001g0244 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0288 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0331	16	344	0.0465	-20	c.-21 others(37): Show c.-218-224_-218-205delGAAAATATATATAAATATAT	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214603	TATATATA others(13): Show TATATATAAATATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02155.hp2 HG02258.hp1 others(6): Show HG01167.hp1 HG02155.hp2 HG02258.hp1 HG03831.hp1 NA18950.hp2 NA18977.hp2 NA18992.hp2 NA18999.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0005c0007t0001 a0001c0001t0001 a0001c0001t0002 a0005c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0096 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0207 a0001c0001t0002g0148 a0005c0007t0001g0223	9	344	0.0262	-20	c.-21 others(37): Show c.-218-211_-218-192delAATATATATATGAATATATA	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74219009	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02970.hp1 HG03471.hp1 others(1): Show HG02630.hp2 HG02970.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0241 a0001c0002t0001g0013 a0001c0002t0001g0014 others(1): Show a0001c0001t0001g0241 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015	4	344	0.0116	-20	c.135 others(35): Show c.135-716_135-697delTTTTTTTTTTTTTTTTTTTT	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LATS1_chr6_149653153_149723101	149699308	GTCTGGGA others(13): Show GTCTGGGAAGTGAGGTGCACC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0014 a0007c0007t0014	a0007c0007t0014g0124 a0007c0007t0014g0124	1	272	0.0037	-20	c.348 others(37): Show c.348+2451_348+2470delGGTGCACCTCACTTCCCAGA	LATS1	ENSG00000131023.13	transcript	ENST00000543571.6	protein_coding	2/7			chr6	TogoVar

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