Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LCTL_chr15_66542532_66570998	66566804	T T	TTTTCTTT others(23): Show TTTTCTTTCTCTTTCTTCTTCTTCTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0237 a0010c0016t0001g0237	1	434	0.0023	30	c.-97 others(39): Show c.-971_-970insGAAAGAAGAAGAAGAAGAAAGAGAAAGAAA		LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding					807		chr15	TogoVar
LDAF1_chr16_21153674_21185616	21156996	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	390	0.0026	30	c.-18 others(41): Show c.-1849_-1848insACACACACACACACACACACACACACACAC		LDAF1	ENSG00000011638.11	transcript	ENST00000233047.9	protein_coding					1677		chr16	TogoVar
LDAH_chr2_20679031_20828101	20716720	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01106.hp1 others(3): Show HG00642.hp2 HG01081.hp1 HG01106.hp1 HG01934.hp1 HG03492.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0001 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0100 a0001c0001t0001g0154 a0001c0001t0001g0162 others(3): Show a0001c0001t0001g0100 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0012g0007	6	258	0.0233	30	c.704 others(49): Show c.704-15069_704-15068insTATATATATATATATATATATATATA TATA		LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6						chr2	TogoVar
LDB2_chr4_16496541_16903645	16592505	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	162	0.0062	30	c.408 others(47): Show c.408+3197_408+3198insGTGTGTGTATATATATATATATATATAT AT		LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	3/7						chr4	TogoVar
LDB2_chr4_16496541_16903645	16659671	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02602.hp1 HG02602.hp2 others(2): Show HG02132.hp1 HG02602.hp1 HG02602.hp2 HG03017.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0002g0040 others(2): Show a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0002g0040 a0001c0001t0003g0131 a0001c0001t0003g0136	5	162	0.0309	30	c.236 others(49): Show c.236-63797_236-63796insTATATATATATATATATATATATATA CACA		LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7						chr4	TogoVar
LDB2_chr4_16496541_16903645	16659671	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG04115.hp1 HG03098.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0043 a0001c0002t0001g0030 a0001c0001t0002g0043 a0001c0002t0001g0030	2	162	0.0124	30	c.236 others(49): Show c.236-63797_236-63796insTATATATATATATATATATATATACA CACA		LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7						chr4	TogoVar
LDB2_chr4_16496541_16903645	16897910	A A	ATATATAT others(23): Show ATATATATATATATATATATATACACATATG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	162	0.0062	30	c.132 others(45): Show c.132+443_132+444insCATATGTGTATATATATATATATATATATA		LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	1/7						chr4	TogoVar
LDB3_chr10_86663511_86705050	86666824	C C	CCAGAGAG others(23): Show CCAGAGAGACAGCGTGCAGCTCCAGGTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	412	0.0024	30	c.-17 others(41): Show c.-1770_-1769insCAGAGAGACAGCGTGCAGCTCCAGGTACAG		LDB3	ENSG00000122367.21	transcript	ENST00000263066.11	protein_coding					1686		chr10	TogoVar
LDB3_chr10_86663511_86741072	86666824	C C	CCAGAGAG others(23): Show CCAGAGAGACAGCGTGCAGCTCCAGGTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0147 a0001c0001t0013g0147	1	332	0.0030	30	c.-17 others(41): Show c.-1770_-1769insCAGAGAGACAGCGTGCAGCTCCAGGTACAG		LDB3	ENSG00000122367.21	transcript	ENST00000361373.9	protein_coding					1686		chr10	TogoVar
LDHAL6A_chr11_18450856_18484601	18467902	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0319 a0001c0001t0019g0319	1	420	0.0024	30	c.418 others(47): Show c.418+2109_418+2110insTATACACACACACATATATATATATATA TA		LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36105238	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0211 a0001c0001t0011g0211	1	236	0.0042	30	c.454 others(47): Show c.454+6778_454+6779insTGTGTGTGTGTGTGTGTGTGTGTGTGTG AG		LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36128117	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00741.hp1 others(15): Show HG00099.hp2 HG00639.hp1 HG00741.hp1 HG01175.hp2 HG01346.hp1 HG01884.hp2 HG02280.hp1 HG02523.hp2 HG02896.hp1 HG02976.hp1 HG03492.hp2 HG03834.hp2 HG04204.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA19012.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0002c0006 a0007c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0002c0004t0007 a0002c0006t0001 a0007c0012t0002	a0001c0001t0001g0054 a0001c0001t0001g0123 a0001c0001t0001g0142 others(15): Show a0001c0001t0001g0054 a0001c0001t0001g0123 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0153 a0001c0001t0004g0188 a0001c0001t0005g0094 a0001c0001t0007g0053 a0001c0002t0001g0090 a0001c0002t0001g0113 a0001c0002t0001g0130 a0001c0002t0002g0026 a0002c0004t0007g0233 a0002c0006t0001g0227 a0007c0012t0002g0107	18	236	0.0763	30	c.454 others(49): Show c.454+29674_454+29675insATATATATATATATATATATATATAT ATAT		LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36128124	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00099.hp1 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0128 a0001c0002t0003g0133 a0001c0002t0003g0128 a0001c0002t0003g0133	2	236	0.0085	30	c.454 others(49): Show c.454+29674_454+29675insATATATATATATATATATGTATATAT ATAT		LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36146773	C C	CTTTATTT others(23): Show CTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00609.hp2 others(19): Show HG00099.hp1 HG00099.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG01081.hp1 HG01346.hp1 HG01884.hp2 HG02055.hp1 HG02056.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02630.hp1 HG02895.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03834.hp1 NA18951.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0002c0003t0001 a0002c0004t0004 a0002c0004t0007 a0004c0010t0001	a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0103 others(19): Show a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0002g0124 a0001c0001t0003g0052 a0001c0001t0006g0012 a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0002t0001g0090 a0001c0002t0003g0077 a0001c0002t0003g0128 a0001c0002t0003g0133 a0001c0002t0005g0070 a0002c0003t0001g0003 a0002c0004t0004g0231 a0002c0004t0007g0233 a0004c0010t0001g0041	22	236	0.0932	30	c.454 others(49): Show c.454+48338_454+48339insTTATTTTATTTTATTTTATTTTATTT TATT		LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD4_chr18_13213760_13657751	13262129	C C	CGTGGAAA others(23): Show CGTGGAAACTGAGTCCCGTGTGGCTCTGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp1 HG02896.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0040 a0001c0001t0036 a0001c0001t0040	a0001c0001t0036g0129 a0001c0001t0040g0127 a0001c0001t0036g0129 a0001c0001t0040g0127	2	178	0.0112	30	c.-46 others(51): Show c.-466-15957_-466-15956insTGGCTCTGTGTGTGGAAACTGAGT CCCGTG		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13262549	T T	TCCGTGCG others(23): Show TCCGTGCGTTGGGGCTGAGTCCCGTGCGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG02027.hp1 others(1): Show HG00558.hp1 HG00597.hp1 HG02027.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0047 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0047 a0001c0001t0066	a0001c0001t0003g0066 a0001c0001t0009g0155 a0001c0001t0047g0114 others(1): Show a0001c0001t0003g0066 a0001c0001t0009g0155 a0001c0001t0047g0114 a0001c0001t0066g0115	4	178	0.0225	30	c.-46 others(51): Show c.-466-15555_-466-15554insCGTGCGTTGGGGCTGAGTCCCGTG CGGCCC		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13262772	G G	GCTGAGTC others(23): Show GCTGAGTCCCGTGCGGCCCTGTGTGTGGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00597.hp2 others(38): Show HG00099.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01952.hp2 HG01978.hp1 HG02074.hp1 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03942.hp2 NA18906.hp1 NA18945.hp2 NA18948.hp2 NA18980.hp2 NA19057.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0062 a0001c0002t0001 a0001c0002t0014	a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0065 others(38): Show a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0141 a0001c0001t0001g0167 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0087 a0001c0001t0002g0101 a0001c0001t0002g0138 a0001c0001t0003g0130 a0001c0001t0003g0154 a0001c0001t0004g0153 a0001c0001t0004g0175 a0001c0001t0006g0103 a0001c0001t0006g0132 a0001c0001t0007g0142 a0001c0001t0008g0053 a0001c0001t0011g0105 a0001c0001t0013g0143 a0001c0001t0013g0169 a0001c0001t0017g0088 a0001c0001t0020g0092 a0001c0001t0020g0178 a0001c0001t0023g0093 a0001c0001t0025g0106 a0001c0001t0027g0069 a0001c0001t0028g0144 a0001c0001t0031g0039 a0001c0001t0032g0122 a0001c0001t0034g0102 a0001c0001t0036g0129 a0001c0001t0037g0098 a0001c0001t0040g0127 a0001c0001t0048g0041 a0001c0001t0050g0168 a0001c0001t0051g0077 a0001c0001t0062g0033 a0001c0002t0001g0136 a0001c0002t0014g0123	41	178	0.2303	30	c.-46 others(51): Show c.-466-15317_-466-15316insCCTGTGTGTGGAAACTGAGTCCCG TGCGGC		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13262828	T T	TGGGGCTG others(23): Show TGGGGCTGAGTCCCGTGCGGCCCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00597.hp2 others(36): Show HG00099.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01952.hp2 HG01978.hp1 HG02074.hp1 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03942.hp2 NA18906.hp1 NA18945.hp2 NA18948.hp2 NA18980.hp2 NA19057.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0037 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0062 a0001c0002t0001 a0001c0002t0014	a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0065 others(36): Show a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0141 a0001c0001t0001g0167 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0087 a0001c0001t0002g0101 a0001c0001t0002g0138 a0001c0001t0003g0130 a0001c0001t0003g0154 a0001c0001t0004g0153 a0001c0001t0004g0175 a0001c0001t0006g0103 a0001c0001t0006g0132 a0001c0001t0007g0142 a0001c0001t0008g0053 a0001c0001t0011g0105 a0001c0001t0013g0143 a0001c0001t0013g0169 a0001c0001t0017g0088 a0001c0001t0020g0092 a0001c0001t0020g0178 a0001c0001t0023g0093 a0001c0001t0025g0106 a0001c0001t0027g0069 a0001c0001t0028g0144 a0001c0001t0031g0039 a0001c0001t0032g0122 a0001c0001t0034g0102 a0001c0001t0037g0098 a0001c0001t0048g0041 a0001c0001t0050g0168 a0001c0001t0051g0077 a0001c0001t0062g0033 a0001c0002t0001g0136 a0001c0002t0014g0123	39	178	0.2191	30	c.-46 others(51): Show c.-466-15257_-466-15256insCCTGTGTGTGGGGGCTGAGTCCCG TGCGGC		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13262845	C C	CGGCCCTG others(23): Show CGGCCCTGTGTGTGGGGGCTGAGTCCCGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp1 HG02896.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0040 a0001c0001t0036 a0001c0001t0040	a0001c0001t0036g0129 a0001c0001t0040g0127 a0001c0001t0036g0129 a0001c0001t0040g0127	2	178	0.0112	30	c.-46 others(51): Show c.-466-15257_-466-15256insCCTGTGTGTGGGGGCTGAGTCCCG TGTGGC		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13262918	G G	GGAAACTG others(23): Show GGAAACTGAGTCCCGTGCGGCTCCGTGCGTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02615.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0058 a0001c0001t0004g0057 a0001c0001t0002g0058 a0001c0001t0004g0057	2	178	0.0112	30	c.-46 others(51): Show c.-466-15186_-466-15185insAAACTGAGTCCCGTGCGGCTCCGT GCGTTG		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13262945	C C	CGTGGGGG others(23): Show CGTGGGGGCTGAGTCCCGTGCGGCCCTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG02027.hp1 others(1): Show HG00558.hp1 HG00597.hp1 HG02027.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0047 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0047 a0001c0001t0066	a0001c0001t0003g0066 a0001c0001t0009g0155 a0001c0001t0047g0114 others(1): Show a0001c0001t0003g0066 a0001c0001t0009g0155 a0001c0001t0047g0114 a0001c0001t0066g0115	4	178	0.0225	30	c.-46 others(51): Show c.-466-15137_-466-15136insCCTGTGTGTGGGGGCTGAGTCCCG TGCGGC		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13610305	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0099 a0001c0001t0010g0099	1	178	0.0056	30	c.182 others(49): Show c.182-10812_182-10811insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTC		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6						chr18	TogoVar
LEMD3_chr12_65164583_65253355	65180989	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	398	0.0025	30	c.152 others(49): Show c.1522+9892_1522+9893insCACACACACACACACACACACACACA CACA		LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
LEMD3_chr12_65164583_65253355	65193732	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19004.hp2 HG02895.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0166 a0001c0001t0001g0048 a0001c0001t0001g0166	2	398	0.0050	30	c.152 others(51): Show c.1523-17180_1523-17151dupGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT		LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
LEO1_chr15_51933025_51976778	51934711	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	388	0.0026	30	c.34 others(41): Show c.3444_*3445insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		LEO1	ENSG00000166477.13	transcript	ENST00000299601.10	protein_coding					3313		chr15	TogoVar
LEO1_chr15_51933025_51976778	51961352	A A	AGGTGGTG others(23): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19081.hp2 NA18965.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0309 a0001c0002t0001g0293 a0001c0002t0001g0309	2	388	0.0052	30	c.920 others(45): Show c.920-649_920-620dupACCACCACCACCACCACCACCACCACCACC		LEO1	ENSG00000166477.13	transcript	ENST00000299601.10	protein_coding	3/11						chr15	TogoVar
LEPROT_chr1_65415668_65441007	65417065	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG01516.hp1 others(14): Show HG00323.hp2 HG00408.hp2 HG01516.hp1 HG01517.hp1 HG02074.hp1 HG02257.hp1 HG03130.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18975.hp1 NA18985.hp2 NA18991.hp1 NA18994.hp2 NA19001.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0044 a0001c0001t0052 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0004g0032 a0001c0001t0014g0036 a0001c0001t0014g0079 a0001c0001t0044g0001 a0001c0001t0052g0001 a0001c0002t0001g0001	17	402	0.0423	30	c.-36 others(41): Show c.-3660_-3659insATATATATATATATATATATATATATATAT		LEPROT	ENSG00000213625.9	transcript	ENST00000371065.9	protein_coding					3602		chr1	TogoVar
LEPR_chr1_65415668_65646559	65417065	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01516.hp1 HG01517.hp1 others(5): Show HG00323.hp2 HG01516.hp1 HG01517.hp1 HG02129.hp1 HG02257.hp1 NA18946.hp2 NA18985.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0003c0005	a0001c0001t0003 a0002c0002t0001 a0003c0004t0006 others(1): Show a0001c0001t0003 a0002c0002t0001 a0003c0004t0006 a0003c0005t0027	a0001c0001t0003g0064 a0002c0002t0001g0050 a0002c0002t0001g0053 others(5): Show a0001c0001t0003g0064 a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0056 a0002c0002t0001g0057 a0003c0004t0006g0005 a0003c0004t0006g0082 a0003c0005t0027g0008	8	216	0.0370	30	c.-37 others(41): Show c.-3772_-3771insATATATATATATATATATATATATATATAT		LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding					3602		chr1	TogoVar
LEPR_chr1_65415668_65646559	65488186	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0042 a0003c0004t0006g0042	1	216	0.0046	30	c.-21 others(49): Show c.-21+62827_-21+62828insCTCTCTCTCTCTCTTTCTTTCTTTCT TTCT		LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488226	C C	CTCTCTTT others(23): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0077 a0003c0004t0006g0077	1	216	0.0046	30	c.-21 others(49): Show c.-21+62851_-21+62852insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT		LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
LEUTX_chr19_39773854_39791291	39789487	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	476	0.0021	30	c.33 others(41): Show c.3352_*3353insATATATATATATATATATATATATATATAT		LEUTX	ENSG00000213921.8	transcript	ENST00000638280.2	protein_coding					3197		chr19	TogoVar
LHFPL2_chr5_78480230_78653772	78651583	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0065 a0001c0001t0010g0065	1	254	0.0039	30	c.-34 others(41): Show c.-3435_-3434insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding					2812		chr5	TogoVar
LHFPL3_chr7_104323603_104913561	104614653	C C	CTTCTCTT others(23): Show CTTCTCTTCTCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	86	0.0116	30	c.446 others(51): Show c.446-122021_446-122020insTCTCTTCTCTCCTTCCTTCCTTCC TTCCTT		LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124457271	T T	TTCCTTCT others(23): Show TTCCTTCTTTCTTTCTCTCTCTCTCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	260	0.0039	30	c.-45 others(41): Show c.-4592_-4591insTCCTTCTTTCTTTCTCTCTCTCTCTCCCTC		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding					4551		chr10	TogoVar
LHPP_chr10_124456823_124619141	124471641	A A	ATATATGT others(23): Show ATATATGTATTTATATATATTTATATATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(29): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00639.hp2 HG00642.hp2 HG01081.hp2 HG01168.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01943.hp2 HG01981.hp1 HG02129.hp2 HG02132.hp2 HG02683.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18980.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0016	a0001c0001t0001g0032 a0001c0001t0001g0091 a0001c0001t0001g0104 others(29): Show a0001c0001t0001g0032 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0218 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0031 a0002c0002t0001g0039 a0002c0002t0001g0058 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0125 a0002c0002t0001g0129 a0002c0002t0001g0151 a0002c0002t0001g0176 a0002c0002t0001g0209 a0002c0002t0001g0251 a0002c0002t0002g0168 a0002c0002t0003g0030 a0002c0002t0016g0052	32	260	0.1231	30	c.125 others(47): Show c.125+9673_125+9674insTTATATATAATTATATGTATTTATATAT AT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LHX3_chr9_136191250_136210128	136208291	T T	TGGAGGGT others(23): Show TGGAGGGTGCAGGGAGGGCCAAGGTGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp2 others(30): Show HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00733.hp1 HG01168.hp1 HG01255.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG02056.hp1 HG02080.hp2 HG02135.hp1 HG02615.hp1 HG02622.hp1 HG03669.hp1 HG03710.hp1 HG04115.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18965.hp2 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA19084.hp1 NA19090.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0002g0003 a0001c0001t0005g0020 a0001c0001t0007g0114 a0001c0001t0009g0092 a0001c0001t0010g0124	33	438	0.0753	30	c.-32 others(41): Show c.-3280_-3279insCCCCCCACCTTGGCCCTCCCTGCACCCTCC		LHX3	ENSG00000107187.17	transcript	ENST00000371748.10	protein_coding					3164		chr9	TogoVar
LHX4_chr1_180225264_180283984	180264378	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG02004.hp2 others(1): Show HG00140.hp1 HG01081.hp1 HG02004.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0011 a0002c0002t0001 a0001c0001t0009 a0001c0001t0011 a0002c0002t0001	a0001c0001t0009g0068 a0001c0001t0011g0159 a0001c0001t0011g0164 others(1): Show a0001c0001t0009g0068 a0001c0001t0011g0159 a0001c0001t0011g0164 a0002c0002t0001g0095	4	402	0.0100	30	c.249 others(47): Show c.249-2008_249-1979dupCACACACACACACACACACACACACACA CA		LHX4	ENSG00000121454.6	transcript	ENST00000263726.4	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
LHX4_chr1_180225264_180283984	180277094	T T	TTTTTTCT others(23): Show TTTTTTCTTTTTTCCCCCCCCCCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0327 a0001c0001t0028g0327	1	402	0.0025	30	c.25 others(41): Show c.2515_*2516insTTTTTCTTTTTTCCCCCCCCCCCCCCCCCC		LHX4	ENSG00000121454.6	transcript	ENST00000263726.4	protein_coding	6/6				2516		chr1	TogoVar
LIAT1_chr17_405325_419666	413442	T T	TGGCCCTC others(23): Show TGGCCCTCAAGGGCTTCCACCCCGACCCCGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp1 HG01099.hp1 HG01952.hp1 others(18): Show HG00639.hp1 HG01099.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02717.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG04184.hp2 NA18522.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0005 a0006 a0029 a0005 a0006 a0029	a0005c0005 a0006c0007 a0006c0037 others(1): Show a0005c0005 a0006c0007 a0006c0037 a0029c0047	a0005c0005t0001 a0006c0007t0001 a0006c0037t0001 others(1): Show a0005c0005t0001 a0006c0007t0001 a0006c0037t0001 a0029c0047t0001	a0005c0005t0001g0006 a0006c0007t0001g0004 a0006c0007t0001g0017 others(4): Show a0005c0005t0001g0006 a0006c0007t0001g0004 a0006c0007t0001g0017 a0006c0007t0001g0026 a0006c0007t0001g0033 a0006c0037t0001g0004 a0029c0047t0001g0011	21	434	0.0484	30	c.630 others(37): Show c.630_659dupGGCCCTCAAGGGCTTCCACCCCGACCCCGA	p.Glu others(13): Show p.Glu210_Pro219dup	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	678/1841	660/1272	220/423		INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413494	C C	CAACCCCG others(23): Show CAACCCCGAGGCCCTCAAGGGCTTCCACCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp1 HG02818.hp1 NA19043.hp1 HG02055.hp1 HG02818.hp1 NA19043.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0007 a0007c0006t0001g0024 a0007c0006t0001g0007 a0007c0006t0001g0024	3	434	0.0069	30	c.651 others(37): Show c.651_652insAACCCCGAGGCCCTCAAGGGCTTCCACCCT	p.Pro others(43): Show p.Pro217_Asp218insAsnProGluAlaLeuLysGlyPheHisPro	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	670/1841	652/1272	218/423			chr17	TogoVar
LIAT1_chr17_405325_419666	413495	G G	AACCCCGA others(23): Show AACCCCGAGGCCCTCAAGGGCTTCCACCCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01167.hp1 HG02486.hp1 HG02572.hp2 others(5): Show HG01167.hp1 HG02486.hp1 HG02572.hp2 HG02809.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp1	a0007 a0021 a0007 a0021	a0007c0006 a0021c0021 a0007c0006 a0021c0021	a0007c0006t0001 a0021c0021t0001 a0007c0006t0001 a0021c0021t0001	a0007c0006t0001g0007 a0007c0006t0001g0034 a0021c0021t0001g0007 others(1): Show a0007c0006t0001g0007 a0007c0006t0001g0034 a0021c0021t0001g0007 a0021c0021t0001g0035	8	434	0.0184	30	c.651 others(37): Show c.651_652insAACCCCGAGGCCCTCAAGGGCTTCCACCCT	p.Pro others(43): Show p.Pro217_Asp218insAsnProGluAlaLeuLysGlyPheHisPro	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	670/1841	652/1272	218/423			chr17	TogoVar
LIAT1_chr17_405325_419666	413606	T T	TTCCACCC others(23): Show TTCCACCCCGACCCCGAGGCCCTCAAGGGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03654.hp2 HG03654.hp2	a0032 a0032	a0032c0038 a0032c0038	a0032c0038t0001 a0032c0038t0001	a0032c0038t0001g0004 a0032c0038t0001g0004	1	434	0.0023	30	c.792 others(37): Show c.792_793insATCCACCCCGACCCCGAGGCCCTCAAGGGC	p.Gly others(43): Show p.Gly264_Phe265insIleHisProAspProGluAlaLeuLysGly	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	811/1841	793/1272	265/423		INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413626	C C	CCTCAAGG others(23): Show CCTCAAGGGCATCCACCCCGACCCCGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp2 HG03225.hp2 HG02145.hp2 HG03225.hp2	a0019 a0019	a0019c0018 a0019c0018	a0019c0018t0001 a0019c0018t0001	a0019c0018t0001g0002 a0019c0018t0001g0002	2	434	0.0046	30	c.792 others(37): Show c.792_793insATCCACCCCGACCCCGAGGCTCTCAAGGGC	p.Gly others(43): Show p.Gly264_Phe265insIleHisProAspProGluAlaLeuLysGly	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	811/1841	793/1272	265/423		INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413794	T T	TGACCCCG others(23): Show TGACCCCGAGGCCCTCAAGGGCTTCCACCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01256.hp2 HG01258.hp2 HG01496.hp2 others(4): Show HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG02273.hp1 HG02300.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0001 a0008c0008t0001g0001	7	434	0.0161	30	c.958 others(37): Show c.958_987dupGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Glu others(13): Show p.Glu320_Pro329dup	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	1006/1841	988/1272	330/423		INFO_REALIGN_3_PRIME	chr17	TogoVar
LIFR_chr5_38469668_38561646	38517856	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	374	0.0027	30	c.561 others(47): Show c.561+5562_561+5563insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		LIFR	ENSG00000113594.10	transcript	ENST00000453190.7	protein_coding	5/19						chr5	TogoVar
LILRA5_chr19_54302070_54318166	54304811	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	409	0.0024	30	c.26 others(41): Show c.2601_*2602insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		LILRA5	ENSG00000187116.14	transcript	ENST00000432233.8	protein_coding					2258		chr19	TogoVar
LILRA6_chr19_54231590_54247790	54237879	T T	TTAGATGT others(23): Show TTAGATGTATTTTTGGGTTTTATGGCTGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0060 a0060	a0060c0055 a0060c0055	a0060c0055t0060 a0060c0055t0060	a0060c0055t0060g0187 a0060c0055t0060g0187	1	450	0.0022	30	c.10 others(41): Show c.1044_*1073dupCAACAGCCATAAAACCCAAAAATACATCTA		LILRA6	ENSG00000244482.11	transcript	ENST00000396365.7	protein_coding	8/8				1073		chr19	TogoVar
LILRB5_chr19_54244421_54262273	54258277	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 NA18954.hp2 HG01074.hp2 NA18954.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0013 a0001c0001t0001 a0006c0010t0013	a0001c0001t0001g0012 a0006c0010t0013g0032 a0001c0001t0001g0012 a0006c0010t0013g0032	2	474	0.0042	30	c.-10 others(41): Show c.-1085_-1084insGTATATATATATATATATATATATATATAT		LILRB5	ENSG00000105609.17	transcript	ENST00000449561.3	protein_coding					1005		chr19	TogoVar
LIMA1_chr12_50170788_50288520	50175363	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0231	1	294	0.0034	30	c.17 others(41): Show c.1700_*1701insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding					424		chr12	TogoVar
LIMA1_chr12_50170788_50288520	50183810	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	294	0.0034	30	c.114 others(49): Show c.1141-1774_1141-1773insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding	9/10						chr12	TogoVar

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