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
L1CAM_chrX_153856516_153891173	153860467	T T	TTTTTCTT others(10): Show TTTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	283	0.0035	17	c.21 others(28): Show c.2195_*2196insGAAAGAAAGAAAGAAAA	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding		1048		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153860530	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	283	0.0035	17	c.21 others(28): Show c.2132_*2133insGAAAGAAAGAAAGAAAG	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding		985		chrX	TogoVar
L1TD1_chr1_62189849_62217328	62197397	T T	TTTATATA others(10): Show TTTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0009 a0002c0007t0009	a0002c0007t0009g0362 a0002c0007t0009g0362	1	414	0.0024	17	c.-11 others(34): Show c.-111+870_-111+871insTATATATATATATATAT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L1TD1_chr1_62189849_62217328	62205437	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0164 a0002c0002t0003g0164	1	414	0.0024	17	c.-11 others(36): Show c.-110-1081_-110-1080insTTTTTTTTTTTTTTTTT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L1TD1_chr1_62189849_62217328	62205441	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG02818.hp2 HG00733.hp2 HG01070.hp2 HG02818.hp2	a0002 a0005 a0014 a0002 a0005 a0014	a0002c0002 a0005c0006 a0014c0024 a0002c0002 a0005c0006 a0014c0024	a0002c0002t0003 a0005c0006t0008 a0014c0024t0003 a0002c0002t0003 a0005c0006t0008 a0014c0024t0003	a0002c0002t0003g0018 a0005c0006t0008g0222 a0014c0024t0003g0018 a0002c0002t0003g0018 a0005c0006t0008g0222 a0014c0024t0003g0018	3	414	0.0073	17	c.-11 others(36): Show c.-110-1077_-110-1076insTTTTTTTTTTTTTTTTT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L1TD1_chr1_62189849_62217328	62205443	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG01243.hp2 HG02257.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0013 a0006c0010t0017 a0006c0010t0013 a0006c0010t0017	a0006c0010t0013g0045 a0006c0010t0017g0035 a0006c0010t0013g0045 a0006c0010t0017g0035	2	414	0.0048	17	c.-11 others(36): Show c.-110-1075_-110-1074insATATTTTTTTTTTTTTT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L1TD1_chr1_62189849_62217328	62205443	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0178 a0002c0002t0003g0178	1	414	0.0024	17	c.-11 others(36): Show c.-110-1067_-110-1066insTTTTTTTTTTTTTTTTT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L3MBTL1_chr20_43502697_43546895	43522457	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA20129.hp2 NA18979.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	2	422	0.0047	17	c.863 others(34): Show c.863-6185_863-6169dupTTTTTTTTTTTTTTTTT	L3MBTL1	ENSG00000185513.18	transcript	ENST00000418998.7	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
L3MBTL2_chr22_41200312_41236271	41218583	A A	ACTGAAAC others(10): Show ACTGAAACAGAAGGCAAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0151 a0009c0015t0001g0151	1	370	0.0027	17	c.601 others(32): Show c.601-827_601-826insAAGGCAACCTGAAACAG	L3MBTL2	ENSG00000100395.15	transcript	ENST00000216237.10	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
L3MBTL3_chr6_130013581_130146438	130048941	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0123 a0001c0003t0001g0123	1	298	0.0034	17	c.103 others(32): Show c.103-341_103-340insCACACACACACACACAC	L3MBTL3	ENSG00000198945.8	transcript	ENST00000361794.7	protein_coding	3/22			chr6	TogoVar
L3MBTL4_chr18_5949717_6419911	6072865	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG03209.hp2 others(1): Show HG00639.hp2 HG01243.hp2 HG03209.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0002c0002t0001	a0001c0001t0003g0004 a0001c0001t0004g0049 a0001c0001t0007g0043 others(1): Show a0001c0001t0003g0004 a0001c0001t0004g0049 a0001c0001t0007g0043 a0002c0002t0001g0078	4	94	0.0426	17	c.144 others(36): Show c.1444+7999_1444+8015dupTTTTTTTTTTTTTTTTT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6072881	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	94	0.0106	17	c.144 others(36): Show c.1444+7999_1444+8000insATTTTTTTTTTTTTTTT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6072881	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	94	0.0106	17	c.144 others(36): Show c.1444+7999_1444+8000insATATTTTTTTTTTTTTT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6118208	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	94	0.0106	17	c.119 others(38): Show c.1199+19985_1199+19986insGTGTGTGTGTGTGTGTG	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6181505	T T	TTTTTAGT others(10): Show TTTTTAGTAGAGTGGGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	94	0.0106	17	c.982 others(34): Show c.982-9580_982-9564dupCCCCCACTCTACTAAAA	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	12/18			chr18	TogoVar
LAIR1_chr19_54346384_54369931	54346700	T T	TAAATAAA others(10): Show TAAATAAATAAATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00733.hp1 HG01099.hp2 others(9): Show HG00609.hp1 HG00733.hp1 HG01099.hp2 HG01261.hp1 HG01928.hp2 HG01952.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp2 HG04184.hp2 NA19010.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0014 a0001c0001 a0009c0014	a0001c0001t0002 a0009c0014t0002 a0001c0001t0002 a0009c0014t0002	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0025 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0050 a0001c0001t0002g0092 a0009c0014t0002g0033	12	462	0.0260	17	c.85 others(28): Show c.8567_*8568insTATTTATTTATTTATTT	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		4683		chr19	TogoVar
LAIR2_chr19_54497831_54515687	54514555	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	475	0.0021	17	c.39 others(28): Show c.3986_*3987insTTTTTTTTTTTTTTTTT	LAIR2	ENSG00000167618.10	transcript	ENST00000301202.7	protein_coding		3869		chr19	TogoVar
LAMA2_chr6_128878138_129521566	129066038	G G	GTATGTCT others(10): Show GTATGTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp2 HG02451.hp1 HG02965.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0002 a0011c0008t0002	a0011c0008t0002g0084 a0011c0008t0002g0085 a0011c0008t0002g0084 a0011c0008t0002g0085	2	88	0.0227	17	c.396 others(34): Show c.396+6143_396+6144insATGTCTTTTTTTTTTTT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	3/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129210003	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0002 a0011c0008t0002	a0011c0008t0002g0085 a0011c0008t0002g0085	1	88	0.0114	17	c.178 others(38): Show c.1782+17156_1782+17172dupAAAAAAAAAAAAAAAAA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129314398	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0001 a0003c0051t0001	a0003c0051t0001g0008 a0003c0051t0001g0008	1	88	0.0114	17	c.341 others(34): Show c.3412-252_3412-236dupAAAAAAAAAAAAAAAAA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	23/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129418032	A A	ATGGCTCC others(10): Show ATGGCTCCCACTTGTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0019 a0019	a0019c0055 a0019c0055	a0019c0055t0002 a0019c0055t0002	a0019c0055t0002g0030 a0019c0055t0002g0030	1	88	0.0114	17	c.586 others(36): Show c.5866-9709_5866-9693dupTTGTTCCTGGCTCCCAC	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	40/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190922	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0217 a0003c0013t0001g0217	1	314	0.0032	17	c.718 others(32): Show c.718+697_718+713dupGAAAGAAAGAAAGAAAG	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190955	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0015 a0015	a0015c0050 a0015c0050	a0015c0050t0002 a0015c0050t0002	a0015c0050t0002g0200 a0015c0050t0002g0200	1	314	0.0032	17	c.718 others(32): Show c.718+664_718+680dupGAAAGAAAGAAAGAAAG	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA5_chr20_62304065_62372312	62321388	G G	GTCAGAGG others(10): Show GTCAGAGGACGGGTGGGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0050 a0050	a0050c0072 a0050c0072	a0050c0072t0001 a0050c0072t0001	a0050c0072t0001g0042 a0050c0072t0001g0042	1	186	0.0054	17	c.649 others(34): Show c.6497-515_6497-499dupACCCACCCGTCCTCTGA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321414	C C	CGGGTAGG others(10): Show CGGGTAGGGTCAGTGGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0020 a0020	a0020c0053 a0020c0053	a0020c0053t0001 a0020c0053t0001	a0020c0053t0001g0059 a0020c0053t0001g0059	1	186	0.0054	17	c.649 others(34): Show c.6497-541_6497-525dupCTCCACTGACCCTACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321462	A A	AGAGGGGT others(10): Show AGAGGGGTGGGGTCAGTG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0001 a0010c0006t0001	a0010c0006t0001g0114 a0010c0006t0001g0114	1	186	0.0054	17	c.649 others(34): Show c.6496+540_6496+556dupCACTGACCCCACCCCTC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321598	A A	AGGTGGGG others(10): Show AGGTGGGGTCAGTGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00597.hp2 others(30): Show HG00099.hp2 HG00140.hp2 HG00597.hp2 HG00642.hp1 HG01070.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02572.hp2 HG02897.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04228.hp2 NA18612.hp1 NA18983.hp2 NA19043.hp1 NA19066.hp1 NA19088.hp2 NA21309.hp1	a0002 a0011 a0012 others(19): Show a0002 a0011 a0012 a0019 a0027 a0034 a0042 a0045 a0047 a0049 a0051 a0055 a0059 a0062 a0069 a0072 a0083 a0096 a0097 a0103 a0105 a0121	a0002c0003 a0002c0017 a0002c0083 others(23): Show a0002c0003 a0002c0017 a0002c0083 a0002c0137 a0011c0050 a0011c0052 a0012c0016 a0019c0018 a0027c0128 a0034c0135 a0042c0134 a0045c0110 a0047c0129 a0049c0133 a0051c0127 a0055c0126 a0059c0019 a0062c0130 a0069c0136 a0072c0125 a0083c0138 a0096c0045 a0097c0132 a0103c0131 a0105c0111 a0121c0044	a0002c0003t0001 a0002c0017t0001 a0002c0083t0001 others(23): Show a0002c0003t0001 a0002c0017t0001 a0002c0083t0001 a0002c0137t0001 a0011c0050t0001 a0011c0052t0001 a0012c0016t0001 a0019c0018t0001 a0027c0128t0001 a0034c0135t0001 a0042c0134t0001 a0045c0110t0001 a0047c0129t0001 a0049c0133t0006 a0051c0127t0001 a0055c0126t0001 a0059c0019t0001 a0062c0130t0005 a0069c0136t0001 a0072c0125t0001 a0083c0138t0001 a0096c0045t0001 a0097c0132t0001 a0103c0131t0001 a0105c0111t0001 a0121c0044t0001	a0002c0003t0001g0090 a0002c0003t0001g0130 a0002c0003t0001g0137 others(30): Show a0002c0003t0001g0090 a0002c0003t0001g0130 a0002c0003t0001g0137 a0002c0003t0001g0139 a0002c0003t0001g0146 a0002c0017t0001g0075 a0002c0017t0001g0164 a0002c0083t0001g0087 a0002c0137t0001g0027 a0011c0050t0001g0062 a0011c0052t0001g0063 a0012c0016t0001g0073 a0012c0016t0001g0082 a0019c0018t0001g0155 a0019c0018t0001g0156 a0027c0128t0001g0074 a0034c0135t0001g0080 a0042c0134t0001g0081 a0045c0110t0001g0132 a0047c0129t0001g0071 a0049c0133t0006g0076 a0051c0127t0001g0072 a0055c0126t0001g0078 a0059c0019t0001g0009 a0062c0130t0005g0079 a0069c0136t0001g0025 a0072c0125t0001g0057 a0083c0138t0001g0083 a0096c0045t0001g0091 a0097c0132t0001g0077 a0103c0131t0001g0070 a0105c0111t0001g0131 a0121c0044t0001g0024	33	186	0.1774	17	c.649 others(34): Show c.6496+404_6496+420dupCCTTCACTGACCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321714	A A	AGAGGGGT others(10): Show AGAGGGGTGGGGCCAGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00597.hp2 others(27): Show HG00099.hp2 HG00140.hp2 HG00597.hp2 HG01070.hp2 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04228.hp2 NA18612.hp1 NA18983.hp2 NA19043.hp1 NA19066.hp1 NA19088.hp2 NA21309.hp1	a0002 a0011 a0012 others(17): Show a0002 a0011 a0012 a0015 a0019 a0034 a0042 a0047 a0049 a0051 a0055 a0059 a0062 a0069 a0072 a0096 a0097 a0103 a0105 a0121	a0002c0003 a0002c0017 a0002c0083 others(21): Show a0002c0003 a0002c0017 a0002c0083 a0002c0137 a0011c0050 a0011c0052 a0012c0016 a0015c0141 a0019c0018 a0034c0135 a0042c0134 a0047c0129 a0049c0133 a0051c0127 a0055c0126 a0059c0019 a0062c0130 a0069c0136 a0072c0125 a0096c0045 a0097c0132 a0103c0131 a0105c0111 a0121c0044	a0002c0003t0001 a0002c0017t0001 a0002c0083t0001 others(21): Show a0002c0003t0001 a0002c0017t0001 a0002c0083t0001 a0002c0137t0001 a0011c0050t0001 a0011c0052t0001 a0012c0016t0001 a0015c0141t0001 a0019c0018t0001 a0034c0135t0001 a0042c0134t0001 a0047c0129t0001 a0049c0133t0006 a0051c0127t0001 a0055c0126t0001 a0059c0019t0001 a0062c0130t0005 a0069c0136t0001 a0072c0125t0001 a0096c0045t0001 a0097c0132t0001 a0103c0131t0001 a0105c0111t0001 a0121c0044t0001	a0002c0003t0001g0090 a0002c0003t0001g0137 a0002c0003t0001g0139 others(27): Show a0002c0003t0001g0090 a0002c0003t0001g0137 a0002c0003t0001g0139 a0002c0003t0001g0146 a0002c0017t0001g0075 a0002c0017t0001g0164 a0002c0083t0001g0087 a0002c0137t0001g0027 a0011c0050t0001g0062 a0011c0052t0001g0063 a0012c0016t0001g0073 a0012c0016t0001g0082 a0015c0141t0001g0015 a0019c0018t0001g0155 a0019c0018t0001g0156 a0034c0135t0001g0080 a0042c0134t0001g0081 a0047c0129t0001g0071 a0049c0133t0006g0076 a0051c0127t0001g0072 a0055c0126t0001g0078 a0059c0019t0001g0009 a0062c0130t0005g0079 a0069c0136t0001g0025 a0072c0125t0001g0057 a0096c0045t0001g0091 a0097c0132t0001g0077 a0103c0131t0001g0070 a0105c0111t0001g0131 a0121c0044t0001g0024	30	186	0.1613	17	c.649 others(34): Show c.6496+304_6496+305insCACTGGCCCCACCCCTC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360544	T T	TGGGTGGA others(10): Show TGGGTGGATGGATAGGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01257.hp1 HG01943.hp1 others(6): Show HG00140.hp1 HG01257.hp1 HG01943.hp1 HG02004.hp1 HG02135.hp2 HG03654.hp1 HG03704.hp2 NA18983.hp1 NA19007.hp1	a0001 a0008 a0018 others(2): Show a0001 a0008 a0018 a0046 a0053	a0001c0001 a0001c0105 a0001c0108 others(4): Show a0001c0001 a0001c0105 a0001c0108 a0008c0009 a0018c0089 a0046c0082 a0053c0123	a0001c0001t0001 a0001c0105t0001 a0001c0108t0001 others(4): Show a0001c0001t0001 a0001c0105t0001 a0001c0108t0001 a0008c0009t0001 a0018c0089t0001 a0046c0082t0001 a0053c0123t0001	a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0142 others(6): Show a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0142 a0001c0105t0001g0092 a0001c0108t0001g0103 a0008c0009t0001g0147 a0018c0089t0001g0104 a0046c0082t0001g0102 a0053c0123t0001g0106	9	186	0.0484	17	c.450 others(34): Show c.450+1855_450+1856insCACCTATCCATCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMC3_chr9_131004174_131099473	131046518	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp1 HG01346.hp2 others(3): Show HG01074.hp1 HG01168.hp1 HG01346.hp2 HG04199.hp1 NA18956.hp1 NA18969.hp1	a0004 a0005 a0008 others(1): Show a0004 a0005 a0008 a0051	a0004c0136 a0005c0007 a0005c0014 others(2): Show a0004c0136 a0005c0007 a0005c0014 a0008c0073 a0051c0111	a0004c0136t0002 a0005c0007t0018 a0005c0014t0003 others(2): Show a0004c0136t0002 a0005c0007t0018 a0005c0014t0003 a0008c0073t0002 a0051c0111t0002	a0004c0136t0002g0170 a0005c0007t0018g0338 a0005c0014t0003g0287 others(3): Show a0004c0136t0002g0170 a0005c0007t0018g0338 a0005c0014t0003g0287 a0005c0014t0003g0311 a0008c0073t0002g0345 a0051c0111t0002g0347	6	360	0.0167	17	c.151 others(34): Show c.1519+868_1519+884dupTTTTTTTTTTTTTTTTT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMC3_chr9_131004174_131099473	131086575	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp1 HG02145.hp1 HG03579.hp1	a0059 a0078 a0059 a0078	a0059c0109 a0078c0065 a0059c0109 a0078c0065	a0059c0109t0038 a0078c0065t0034 a0059c0109t0038 a0078c0065t0034	a0059c0109t0038g0003 a0078c0065t0034g0131 a0059c0109t0038g0003 a0078c0065t0034g0131	2	360	0.0056	17	c.423 others(34): Show c.4230+864_4230+865insTTTTTTTTTTTTTTTTT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP1_chr13_113292239_113328672	113297058	A A	AGGGTCAC others(10): Show AGGGTCACGTGCCGCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01891.hp2 HG02559.hp1 others(12): Show HG00438.hp1 HG01891.hp2 HG02559.hp1 HG02622.hp1 HG02698.hp1 HG02895.hp2 HG02922.hp1 HG03225.hp1 HG03540.hp2 NA18522.hp1 NA18942.hp2 NA19007.hp1 NA19057.hp2 NA19087.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0005 a0001c0001t0001 a0003c0003t0005	a0001c0001t0001g0010 a0001c0001t0001g0084 a0001c0001t0001g0113 others(11): Show a0001c0001t0001g0010 a0001c0001t0001g0084 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0194 a0001c0001t0001g0200 a0003c0003t0005g0017 a0003c0003t0005g0323 a0003c0003t0005g0325 a0003c0003t0005g0326 a0003c0003t0005g0328 a0003c0003t0005g0329 a0003c0003t0005g0330 a0003c0003t0005g0331	15	354	0.0424	17	c.-37 others(26): Show c.-377_-376insGGGTCACGTGCCGCTGC	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding		180		chr13	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02809.hp1 NA18989.hp1 others(1): Show HG02129.hp1 HG02809.hp1 NA18989.hp1 NA19012.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0035 a0001c0003t0002g0062 a0001c0003t0002g0068 others(1): Show a0001c0003t0002g0035 a0001c0003t0002g0062 a0001c0003t0002g0068 a0001c0003t0002g0069	4	372	0.0108	17	c.888 others(34): Show c.888+2800_888+2801insATATATATATATATTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18982.hp1 NA18947.hp1 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0259 a0001c0003t0002g0074 a0001c0003t0001g0259 a0001c0003t0002g0074	2	372	0.0054	17	c.888 others(34): Show c.888+2800_888+2801insATATATATATATATATA	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP5_chr20_9509590_9535524	9509992	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0191 a0001c0001t0008g0192 a0001c0001t0008g0191 a0001c0001t0008g0192	2	448	0.0045	17	c.-48 others(28): Show c.-4861_-4860insAAAAAAAAAAAAAACAA	LAMP5	ENSG00000125869.10	transcript	ENST00000246070.3	protein_coding		4597		chr20	TogoVar
LAMP5_chr20_9509590_9535524	9518010	T T	TCTGCCAG others(10): Show TCTGCCAGCAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(150): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18983.hp2 NA18987.hp1 NA18994.hp2 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0016 a0002c0002t0017 a0003c0003t0001 a0003c0003t0003 a0004c0004t0004	a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0189 others(135): Show a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0189 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0271 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0280 a0001c0001t0004g0288 a0001c0001t0004g0306 a0001c0001t0005g0270 a0001c0001t0005g0285 a0001c0001t0008g0191 a0001c0001t0008g0192 a0001c0001t0014g0279 a0001c0001t0015g0283 a0002c0002t0001g0008 a0002c0002t0001g0049 a0002c0002t0001g0055 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0316 a0002c0002t0001g0339 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0354 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0001g0361 a0002c0002t0001g0364 a0002c0002t0002g0008 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0308 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0315 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0002g0334 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0363 a0002c0002t0003g0047 a0002c0002t0003g0299 a0002c0002t0003g0302 a0002c0002t0003g0304 a0002c0002t0003g0307 a0002c0002t0003g0309 a0002c0002t0003g0362 a0002c0002t0005g0046 a0002c0002t0005g0296 a0002c0002t0007g0068 a0002c0002t0009g0322 a0002c0002t0016g0303 a0002c0002t0017g0359 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0061 a0004c0004t0004g0286	153	448	0.3415	17	c.476 others(30): Show c.476-28_476-27insGCCAGCAGGAGGGGCCT	LAMP5	ENSG00000125869.10	transcript	ENST00000246070.3	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
LANCL2_chr7_55360337_55438737	55415621	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18941.hp2 NA18942.hp1 others(2): Show HG02698.hp1 NA18941.hp2 NA18942.hp1 NA18953.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0314 others(2): Show a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316	5	352	0.0142	17	c.100 others(36): Show c.1008+3540_1008+3541insTTTTTTTTTTTTTTTTT	LANCL2	ENSG00000132434.10	transcript	ENST00000254770.3	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
LAPTM4B_chr8_97770788_97858013	97781278	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0123 a0001c0001t0036g0123	1	380	0.0026	17	c.99+ others(32): Show c.99+5175_99+5191dupTTTTTTTTTTTTTTTTT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97826543	T T	TGTTTATT others(10): Show TGTTTATTTGTTTTTTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(180): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0005t0001 a0002c0003t0005	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 others(180): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0330 a0001c0001t0001g0337 a0001c0001t0001g0344 a0001c0001t0001g0350 a0001c0001t0002g0004 a0001c0001t0002g0068 a0001c0001t0002g0082 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0316 a0001c0001t0002g0322 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0336 a0001c0001t0002g0340 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0366 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0003g0077 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0091 a0001c0001t0003g0115 a0001c0001t0003g0160 a0001c0001t0003g0262 a0001c0001t0003g0297 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0004g0170 a0001c0001t0004g0175 a0001c0001t0004g0178 a0001c0001t0004g0215 a0001c0001t0005g0002 a0001c0001t0005g0007 a0001c0001t0005g0026 a0001c0001t0005g0081 a0001c0001t0005g0125 a0001c0001t0005g0132 a0001c0001t0005g0136 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0151 a0001c0001t0005g0153 a0001c0001t0005g0159 a0001c0001t0005g0161 a0001c0001t0005g0321 a0001c0001t0005g0335 a0001c0001t0005g0341 a0001c0001t0005g0361 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0006g0083 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0128 a0001c0001t0006g0365 a0001c0001t0007g0172 a0001c0001t0007g0183 a0001c0001t0007g0199 a0001c0001t0007g0370 a0001c0001t0010g0180 a0001c0001t0010g0181 a0001c0001t0010g0253 a0001c0001t0010g0254 a0001c0001t0011g0034 a0001c0001t0011g0058 a0001c0001t0011g0110 a0001c0001t0011g0280 a0001c0001t0013g0114 a0001c0001t0013g0235 a0001c0001t0013g0236 a0001c0001t0016g0276 a0001c0001t0016g0339 a0001c0001t0022g0133 a0001c0001t0023g0211 a0001c0001t0023g0221 a0001c0001t0024g0201 a0001c0001t0024g0202 a0001c0001t0025g0292 a0001c0001t0027g0302 a0001c0001t0031g0031 a0001c0001t0034g0255 a0001c0001t0035g0205 a0001c0002t0009g0169 a0001c0002t0009g0252 a0001c0002t0015g0246 a0001c0002t0017g0241 a0001c0002t0018g0243 a0001c0002t0019g0165 a0001c0002t0019g0247 a0001c0005t0001g0017 a0001c0005t0001g0024 a0002c0003t0005g0084 a0002c0003t0005g0127	183	380	0.4816	17	c.603 others(34): Show c.603+1393_603+1394insTATTTGTTTTTTGAGTT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97856137	A A	AGGAGGAG others(10): Show AGGAGGAGGAGGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02965.hp1 HG02280.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0262 a0001c0001t0003g0115 a0001c0001t0003g0262	2	380	0.0053	17	c.46 others(28): Show c.4663_*4664insGGAGGAGGAGGGGGAGG	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding		3125		chr8	TogoVar
LARGE1_chr22_33267509_33925476	33441071	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp1 HG02486.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0028 a0001c0003t0032 a0001c0001t0028 a0001c0003t0032	a0001c0001t0028g0105 a0001c0003t0032g0107 a0001c0001t0028g0105 a0001c0003t0032g0107	2	110	0.0182	17	c.788 others(34): Show c.788-8823_788-8807dupAAAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33651225	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp1 HG01884.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0024 a0001c0001t0006 a0001c0001t0024	a0001c0001t0006g0065 a0001c0001t0024g0101 a0001c0001t0006g0065 a0001c0001t0024g0101	2	110	0.0182	17	c.107 others(32): Show c.107-574_107-558dupTTTTTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33878129	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01496.hp2 HG02523.hp1 others(4): Show HG01257.hp1 HG01496.hp2 HG02523.hp1 HG02615.hp2 HG03491.hp1 HG04228.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0009	a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0057 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0002t0001g0021 a0001c0002t0001g0056 a0001c0002t0002g0089 a0001c0003t0009g0001	7	110	0.0636	17	c.-83 others(36): Show c.-83+41849_-83+41865dupAAAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128062592	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0283 a0006c0005t0005g0283	1	336	0.0030	17	c.-78 others(34): Show c.-78+1193_-78+1209dupTTTTTTTTTTTTTTTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098767	A A	ATACATAT others(10): Show ATACATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0065 a0002c0002t0012g0065	1	336	0.0030	17	c.813 others(32): Show c.813+438_813+439insACATATATATATTTTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098767	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0288 a0002c0002t0002g0288	1	336	0.0030	17	c.813 others(32): Show c.813+438_813+439insATATATATATATTTTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02040.hp1 HG02723.hp1 others(1): Show HG01496.hp1 HG02040.hp1 HG02723.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 others(1): Show a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0033	4	336	0.0119	17	c.988 others(34): Show c.988+3364_988+3380dupAAAAAAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128129164	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18906.hp2 NA19005.hp2 HG02622.hp1 NA18906.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0013 a0002c0002t0002 a0002c0002t0013	a0002c0002t0002g0015 a0002c0002t0002g0084 a0002c0002t0013g0093 a0002c0002t0002g0015 a0002c0002t0002g0084 a0002c0002t0013g0093	3	336	0.0089	17	c.152 others(36): Show c.1524+7000_1524+7016dupAAAAAAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128139900	A A	AACCATTT others(10): Show AACCATTTGCTATGTGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	336	0.0030	17	c.152 others(38): Show c.1524+17713_1524+17714insCCATTTGCTATGTGGGA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4B_chr10_804497_936705	827275	C C	CAAAAAAA others(10): Show CAAAAAAAAAGAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02922.hp2 others(10): Show HG02451.hp1 HG02630.hp2 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0018 a0001c0004t0027	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0092 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0010g0140 a0001c0001t0018g0058 a0001c0001t0018g0059 a0001c0004t0027g0252	13	288	0.0451	17	c.112 others(36): Show c.1126-1406_1126-1405insTTTTTTTCTTTTTTTTT	LARP4B	ENSG00000107929.16	transcript	ENST00000316157.8	protein_coding	11/17			chr10	TogoVar

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