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
KSR2_chr12_117448012_117973990	117971094	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03471.hp2 HG01109.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0092 a0001c0003t0139 a0001c0001t0092 a0001c0003t0139	a0001c0001t0092g0137 a0001c0003t0139g0136 a0001c0001t0092g0137 a0001c0003t0139g0136	2	196	0.0102	26	c.-28 others(37): Show c.-2840_-2839insTTTTTTTTTTTTTTTTTTTTTTTTTT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding		2105		chr12	TogoVar
KTN1_chr14_55575207_55689579	55631341	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	314	0.0032	26	c.122 others(45): Show c.1221+1247_1221+1272dupATATATATATATATATATATATATAT	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	7/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
KTN1_chr14_55575207_55689579	55631341	G G	GATTGATA others(19): Show GATTGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	314	0.0032	26	c.122 others(45): Show c.1221+1246_1221+1247insTGATATATATATATATATATATATAT	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	7/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
KTN1_chr14_55575207_55689579	55657397	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0301 a0002c0003t0003g0301	1	314	0.0032	26	c.289 others(45): Show c.2893-1136_2893-1135insGTTTTTTTTTTTTTTTTTTTTTTTTT	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
KYAT1_chr9_128827942_128886950	128829411	A A	AGGCTCAG others(19): Show AGGCTCAGGGTACAGCACTGCCCACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0001 a0008c0005t0001	a0008c0005t0001g0111 a0008c0005t0001g0111	1	326	0.0031	26	c.41 others(37): Show c.4147_*4172dupCTGTGGGCAGTGCTGTACCCTGAGCC	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding		3530		chr9	TogoVar
KYAT1_chr9_128827942_128886950	128865359	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	326	0.0031	26	c.-7+ others(43): Show c.-7+16537_-7+16538insAAAAAAAAAAAAAATATATATATATA	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
KYNU_chr2_142872664_143060833	142977372	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02257.hp2 HG02273.hp2 others(10): Show HG02074.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02922.hp1 HG03239.hp1 NA18906.hp2 NA18957.hp1 NA18959.hp2 NA18978.hp2 NA18984.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0137 a0001c0001t0148 a0001c0001t0156 a0001c0001t0161	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0002g0014 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0002g0014 a0001c0001t0008g0182 a0001c0001t0013g0040 a0001c0001t0014g0238 a0001c0001t0021g0156 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0137g0041 a0001c0001t0148g0071 a0001c0001t0156g0322 a0001c0001t0161g0034	13	332	0.0392	26	c.730 others(43): Show c.730-7698_730-7697insATATATATATATATATATATATATAT	KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
KYNU_chr2_142872664_143060833	143032711	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03942.hp1 HG01123.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0187 a0001c0001t0009 a0001c0001t0187	a0001c0001t0009g0170 a0001c0001t0187g0191 a0001c0001t0009g0170 a0001c0001t0187g0191	2	332	0.0060	26	c.956 others(41): Show c.956-519_956-494dupGTGTGTGTGTGTGTGTGTGTGTGTGT	KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
L1TD1_chr1_62189849_62217328	62205366	A A	ACTCCCTC others(19): Show ACTCCCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0017 a0006c0010t0017	a0006c0010t0017g0035 a0006c0010t0017g0035	1	414	0.0024	26	c.-11 others(45): Show c.-110-1150_-110-1149insCCTCTCTCTCTCTCTCTCTCTCTCTC	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L3MBTL3_chr6_130013581_130146438	130048941	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0084 a0001c0003t0001g0084	1	298	0.0034	26	c.103 others(41): Show c.103-337_103-312dupCACACACACACACACACACACACACA	L3MBTL3	ENSG00000198945.8	transcript	ENST00000361794.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
L3MBTL4_chr18_5949717_6419911	6072865	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp1 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0056 a0001c0003t0002g0058 a0001c0003t0002g0056 a0001c0003t0002g0058	2	94	0.0213	26	c.144 others(45): Show c.1444+8015_1444+8016insTTTTTTTTTTTTTTTTTTTTTTTTTT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6099585	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	94	0.0106	26	c.120 others(45): Show c.1200-6058_1200-6057insATATATATATATATATATATATATAT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6118198	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	94	0.0106	26	c.119 others(47): Show c.1199+19995_1199+19996insGTGTGTGTGTGTGTGTGTGTGTGT GT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6118208	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01099.hp1 HG03017.hp2 others(2): Show HG00673.hp2 HG01099.hp1 HG03017.hp2 HG03195.hp1 NA19002.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0009 a0001c0001 a0002c0002 a0005c0009	a0001c0001t0003 a0001c0001t0008 a0002c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0008 a0002c0002t0001 a0005c0009t0002	a0001c0001t0003g0048 a0001c0001t0008g0070 a0002c0002t0001g0032 others(2): Show a0001c0001t0003g0048 a0001c0001t0008g0070 a0002c0002t0001g0032 a0002c0002t0001g0038 a0005c0009t0002g0012	5	94	0.0532	26	c.119 others(47): Show c.1199+19985_1199+19986insGTGTGTGTGTGTGTGTGTGTGTGT GT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
LACTB2_chr8_70632266_70674185	70668748	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0046 a0001c0002t0003g0046	1	352	0.0028	26	c.122 others(41): Show c.122+225_122+250dupAAAAAAAAAAAAAAAAAAAAAAAAAA	LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding	1/6			chr8	TogoVar
LACTB_chr15_63116861_63147061	63146250	A A	ATTTTAAC others(19): Show ATTTTAACATTAAATGTTTAATGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02015.hp2 HG02027.hp1 others(6): Show HG00438.hp1 HG02015.hp2 HG02027.hp1 HG02080.hp1 NA18950.hp2 NA18952.hp2 NA18971.hp1 NA18971.hp2 NA19088.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0021 a0001c0001 a0008c0021	a0001c0001t0001 a0008c0021t0001 a0001c0001t0001 a0008c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0161 a0008c0021t0001g0151 a0001c0001t0001g0001 a0001c0001t0001g0161 a0008c0021t0001g0151	9	416	0.0216	26	c.44 others(37): Show c.4445_*4446insTTTTAACATTAAATGTTTAATGTTTT	LACTB	ENSG00000103642.12	transcript	ENST00000261893.9	protein_coding		4190		chr15	TogoVar
LAIR1_chr19_54346384_54369931	54349497	T T	TGGATGGA others(19): Show TGGATGGATGGAGGACGCAGATCCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(119): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02698.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp2 NA18953.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0008 a0009 a0012 a0015 a0017 a0018	a0001c0001 a0001c0003 a0002c0002 others(8): Show a0001c0001 a0001c0003 a0002c0002 a0002c0012 a0006c0010 a0008c0013 a0009c0014 a0012c0019 a0015c0020 a0017c0021 a0018c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0032 a0001c0001t0038 a0001c0001t0047 a0001c0001t0062 a0001c0001t0066 a0001c0003t0025 a0002c0002t0017 a0002c0002t0044 a0002c0012t0002 a0006c0010t0002 a0008c0013t0052 a0009c0014t0002 a0012c0019t0011 a0015c0020t0054 a0017c0021t0011 a0018c0018t0002	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0015 others(44): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0186 a0001c0001t0002g0196 a0001c0001t0003g0004 a0001c0001t0011g0086 a0001c0001t0011g0097 a0001c0001t0011g0156 a0001c0001t0032g0068 a0001c0001t0038g0155 a0001c0001t0047g0094 a0001c0001t0062g0189 a0001c0001t0066g0137 a0001c0003t0025g0115 a0001c0003t0025g0173 a0002c0002t0017g0053 a0002c0002t0017g0175 a0002c0002t0044g0106 a0002c0012t0002g0167 a0006c0010t0002g0067 a0006c0010t0002g0202 a0008c0013t0052g0084 a0009c0014t0002g0033 a0012c0019t0011g0093 a0015c0020t0054g0073 a0017c0021t0011g0096 a0018c0018t0002g0088	122	462	0.2641	26	c.57 others(37): Show c.5770_*5771insTCAGGATCTGCGTCCTCCATCCATCC	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		1886		chr19	TogoVar
LAMA2_chr6_128878138_129521566	129205478	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0004 a0004	a0004c0063 a0004c0063	a0004c0063t0001 a0004c0063t0001	a0004c0063t0001g0075 a0004c0063t0001g0075	1	88	0.0114	26	c.178 others(47): Show c.1782+12641_1782+12642insTATATATATATATATATATATATA TA	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(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0002 a0011c0008t0002	a0011c0008t0002g0084 a0011c0008t0002g0084	1	88	0.0114	26	c.341 others(43): Show c.3412-236_3412-235insAAAAAAAAAAAAAAAAAAAAAAAAAA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	23/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA3_chr18_23684453_23960066	23687746	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02886.hp2 HG03098.hp2 HG01099.hp1 HG02886.hp2 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0009 a0003c0004 a0001c0009 a0003c0004	a0001c0009t0001 a0003c0004t0001 a0001c0009t0001 a0003c0004t0001	a0001c0009t0001g0030 a0001c0009t0001g0073 a0003c0004t0001g0273 a0001c0009t0001g0030 a0001c0009t0001g0073 a0003c0004t0001g0273	3	280	0.0107	26	c.-19 others(37): Show c.-1938_-1937insTGTGTGTGTGTGTGTGTGTGTGTGTG	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding		1706		chr18	TogoVar
LAMA3_chr18_23684453_23960066	23837570	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02602.hp1 HG02683.hp2 HG01928.hp1 HG02602.hp1 HG02683.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0002g0155 a0001c0001t0002g0208 a0003c0004t0001g0275 a0001c0001t0002g0155 a0001c0001t0002g0208 a0003c0004t0001g0275	3	280	0.0107	26	c.309 others(43): Show c.3093+505_3093+506insATATATATATATATATATATATATAT	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	25/74		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62334753	C C	CAGGGCTC others(19): Show CAGGGCTCAGGGCTCAGGGCGAGGGCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01123.hp1 HG02129.hp1 HG00423.hp2 HG01123.hp1 HG02129.hp1	a0024 a0038 a0061 a0024 a0038 a0061	a0024c0121 a0038c0088 a0061c0106 a0024c0121 a0038c0088 a0061c0106	a0024c0121t0001 a0038c0088t0001 a0061c0106t0001 a0024c0121t0001 a0038c0088t0001 a0061c0106t0001	a0024c0121t0001g0162 a0038c0088t0001g0169 a0061c0106t0001g0144 a0024c0121t0001g0162 a0038c0088t0001g0169 a0061c0106t0001g0144	3	186	0.0161	26	c.248 others(43): Show c.2483-133_2483-132insCGCCCTCGCCCTGAGCCCTGAGCCCT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	20/79			chr20	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(19): Show GTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0017 a0001c0035t0001g0017	1	308	0.0033	26	c.419 others(45): Show c.419-25551_419-25550insGTGTGTGTATATATATATATATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC1_chr1_183018420_183150592	183150108	T T	TCCTCACA others(19): Show TCCTCACACACCACACAGCCCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0262 a0001c0003t0003g0262	1	308	0.0033	26	c.73 others(37): Show c.7318_*7319insCCTCACACACCACACAGCCCACACCC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4517		chr1	TogoVar
LAMC3_chr9_131004174_131099473	131022213	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0016 a0016	a0016c0087 a0016c0087	a0016c0087t0026 a0016c0087t0026	a0016c0087t0026g0172 a0016c0087t0026g0172	1	360	0.0028	26	c.374 others(43): Show c.374-4071_374-4070insCACACACACACACACACACACACACA	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMC3_chr9_131004174_131099473	131022215	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG02622.hp1 others(3): Show HG00738.hp2 HG01167.hp1 HG02622.hp1 HG02622.hp2 HG02976.hp1 HG03471.hp1	a0016 a0018 a0031 others(3): Show a0016 a0018 a0031 a0043 a0063 a0077	a0016c0086 a0018c0006 a0031c0025 others(3): Show a0016c0086 a0018c0006 a0031c0025 a0043c0170 a0063c0165 a0077c0205	a0016c0086t0010 a0018c0006t0044 a0031c0025t0001 others(3): Show a0016c0086t0010 a0018c0006t0044 a0031c0025t0001 a0043c0170t0001 a0063c0165t0006 a0077c0205t0014	a0016c0086t0010g0110 a0018c0006t0044g0265 a0031c0025t0001g0275 others(3): Show a0016c0086t0010g0110 a0018c0006t0044g0265 a0031c0025t0001g0275 a0043c0170t0001g0264 a0063c0165t0006g0266 a0077c0205t0014g0274	6	360	0.0167	26	c.374 others(43): Show c.374-4066_374-4041dupCACACACACACACACACACACACACA	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMC3_chr9_131004174_131099473	131032508	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTTGCTCTCTCTCGCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp1 HG00099.hp1 HG01168.hp1	a0005 a0051 a0005 a0051	a0005c0007 a0051c0111 a0005c0007 a0051c0111	a0005c0007t0003 a0051c0111t0002 a0005c0007t0003 a0051c0111t0002	a0005c0007t0003g0335 a0051c0111t0002g0347 a0005c0007t0003g0335 a0051c0111t0002g0347	2	360	0.0056	26	c.809 others(41): Show c.809+359_809+384dupGTCTCTCTCTCTTGCTCTCTCTCGCT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMC3_chr9_131004174_131099473	131046518	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19012.hp2 NA19070.hp1 NA18952.hp1 NA19012.hp2 NA19070.hp1	a0015 a0018 a0097 a0015 a0018 a0097	a0015c0137 a0018c0173 a0097c0192 a0015c0137 a0018c0173 a0097c0192	a0015c0137t0001 a0018c0173t0003 a0097c0192t0039 a0015c0137t0001 a0018c0173t0003 a0097c0192t0039	a0015c0137t0001g0192 a0018c0173t0003g0277 a0097c0192t0039g0290 a0015c0137t0001g0192 a0018c0173t0003g0277 a0097c0192t0039g0290	3	360	0.0083	26	c.151 others(43): Show c.1519+859_1519+884dupTTTTTTTTTTTTTTTTTTTTTTTTTT	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(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01257.hp2 HG01516.hp2 HG01255.hp1 HG01257.hp2 HG01516.hp2	a0009 a0012 a0009 a0012	a0009c0027 a0012c0185 a0009c0027 a0012c0185	a0009c0027t0002 a0012c0185t0001 a0009c0027t0002 a0012c0185t0001	a0009c0027t0002g0127 a0009c0027t0002g0128 a0012c0185t0001g0280 a0009c0027t0002g0127 a0009c0027t0002g0128 a0012c0185t0001g0280	3	360	0.0083	26	c.151 others(45): Show c.1519+1522_1519+1523insTTTTTTTTTTTTTTTTTTTTTTTTTT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP1_chr13_113292239_113328672	113322742	A A	AGGGGTGG others(19): Show AGGGGTGGGGGTGCCGCTCTCTCTGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0145 a0001c0001t0026g0145	1	354	0.0028	26	c.33 others(35): Show c.339_*364dupCTCTCTGAGGGGGTGGGGGTGCCGCT	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	9/9	365	INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0048 a0001c0003t0002g0048	1	372	0.0027	26	c.888 others(43): Show c.888+2800_888+2801insATATATATATATATATATATATTTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMTOR3_chr4_99873336_99899427	99886920	G G	GTATGTAT others(19): Show GTATGTATGTATATATGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	384	0.0026	26	c.103 others(41): Show c.103+375_103+376insTACACACACACATATATACATACATA	LAMTOR3	ENSG00000109270.13	transcript	ENST00000499666.7	protein_coding	4/6			chr4	TogoVar
LAP3_chr4_17572198_17612970	17573730	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 NA18612.hp1 HG04199.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0224 a0001c0001t0004g0017 a0001c0001t0004g0224	2	300	0.0067	26	c.-37 others(37): Show c.-3736_-3735insTGTGTGTGTGTGTGTGTGTATATATA	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding		3467		chr4	TogoVar
LAP3_chr4_17572198_17612970	17580184	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0213 a0001c0005t0003g0213	1	300	0.0033	26	c.218 others(41): Show c.218+246_218+247insATATATATATATATATATATATATGT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LAPTM4A_chr2_20027650_20056628	20047696	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	424	0.0024	26	c.111 others(43): Show c.111+3713_111+3714insCTTTTTTCTTTTTTTTTTTTTTTTTT	LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6			chr2	TogoVar
LAPTM4A_chr2_20027650_20056628	20047697	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02155.hp1 NA19002.hp2 HG02074.hp1 HG02155.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	3	424	0.0071	26	c.111 others(43): Show c.111+3712_111+3713insCTTTTTTCTTTTTTTTTTTTTTTTTT	LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6			chr2	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00642.hp2 others(28): Show HG00423.hp2 HG00544.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp2 HG01256.hp2 HG02080.hp2 HG02895.hp2 HG02970.hp2 HG03098.hp2 HG03491.hp1 HG03491.hp2 HG03688.hp1 HG03710.hp2 HG04184.hp1 NA18612.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18953.hp1 NA18964.hp2 NA18974.hp1 NA18980.hp2 NA19011.hp1 NA19030.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19081.hp1 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0002t0015 a0001c0002t0017	a0001c0001t0001g0264 a0001c0001t0001g0320 a0001c0001t0001g0344 others(28): Show a0001c0001t0001g0264 a0001c0001t0001g0320 a0001c0001t0001g0344 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0152 a0001c0001t0002g0259 a0001c0001t0002g0268 a0001c0001t0002g0277 a0001c0001t0002g0288 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0316 a0001c0001t0002g0336 a0001c0001t0002g0340 a0001c0001t0003g0077 a0001c0001t0003g0308 a0001c0001t0005g0132 a0001c0001t0005g0153 a0001c0001t0007g0199 a0001c0001t0011g0034 a0001c0001t0013g0235 a0001c0001t0013g0236 a0001c0001t0016g0276 a0001c0001t0016g0339 a0001c0002t0015g0246 a0001c0002t0017g0241	31	380	0.0816	26	c.603 others(43): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAAAAAAA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97850474	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	380	0.0026	26	c.604 others(41): Show c.604-908_604-907insGTGTGTGTGTATGTGTGTGTGTGTGT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97850476	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19240.hp1 HG02886.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0253 a0001c0001t0010g0254 a0001c0001t0010g0253 a0001c0001t0010g0254	2	380	0.0053	26	c.604 others(41): Show c.604-908_604-907insGTGTGTGTGTGTATGTGTGTGTGTGT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33416906	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03098.hp1 NA18906.hp2 HG01192.hp1 HG03098.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0004 a0001c0001t0005 a0003c0011t0001 a0001c0001t0004 a0001c0001t0005 a0003c0011t0001	a0001c0001t0004g0010 a0001c0001t0005g0024 a0003c0011t0001g0082 a0001c0001t0004g0010 a0001c0001t0005g0024 a0003c0011t0001g0082	3	110	0.0273	26	c.892 others(45): Show c.892+15254_892+15255insAAAAAAAAAAAAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	7/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33651225	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0025 a0001c0019t0003g0025	1	110	0.0091	26	c.107 others(41): Show c.107-558_107-557insTTTTTTTTTTTTTTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33865832	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20129.hp2 HG03041.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0003 a0001c0001t0006 a0001c0003t0003	a0001c0001t0006g0052 a0001c0003t0003g0062 a0001c0001t0006g0052 a0001c0003t0003g0062	2	110	0.0182	26	c.-83 others(45): Show c.-83+54137_-83+54162dupAAAAAAAAAAAAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33878129	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0012 a0001c0008t0012	a0001c0008t0012g0094 a0001c0008t0012g0094	1	110	0.0091	26	c.-83 others(45): Show c.-83+41865_-83+41866insAAAAAAAAAAAAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02257.hp2 NA18970.hp1 HG00738.hp1 HG02257.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0152 a0001c0001t0001g0171 a0001c0001t0001g0173	3	336	0.0089	26	c.813 others(41): Show c.813+418_813+419insGTGTATATATATATATATATATATAT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG04228.hp1 HG00140.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0191 a0001c0001t0001g0178 a0001c0001t0001g0191	2	336	0.0060	26	c.813 others(41): Show c.813+418_813+419insGTGTGTATATATATATATATATATAT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTGT others(19): Show GTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0132 a0001c0001t0007g0132	1	336	0.0030	26	c.813 others(41): Show c.813+418_813+419insGTGTGTGTATATATATATATATATAT	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(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18982.hp2 NA18998.hp2 HG01106.hp1 NA18982.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0012 a0002c0002t0002 a0002c0002t0012	a0002c0002t0002g0034 a0002c0002t0002g0080 a0002c0002t0012g0096 a0002c0002t0002g0034 a0002c0002t0002g0080 a0002c0002t0012g0096	3	336	0.0089	26	c.988 others(43): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128143796	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02809.hp1 HG02886.hp2 others(1): Show HG01517.hp2 HG02809.hp1 HG02886.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0003g0212 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0003g0212 a0001c0001t0003g0216	4	336	0.0119	26	c.152 others(47): Show c.1525-18376_1525-18375insGTGTGTGTGTGTGTGTGTGTGTGT GT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1_chr5_154750377_154822605	154796114	A A	ATATATAT others(19): Show ATATATATTATATATATTTTATATATT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0116 a0001c0003t0002g0116	1	304	0.0033	26	c.137 others(43): Show c.1377+812_1377+837dupTTTATATATTTATATATTATATATAT	LARP1	ENSG00000155506.19	transcript	ENST00000518297.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	318	0.0031	26	c.804 others(43): Show c.804+4787_804+4788insATATATATATATATATATATATATTT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar

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