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
LIPH_chr3_185501262_185557588	185538718	A A	AATATATG others(35): Show AATATATGTACATATATATACATATATGTACATATATATACAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0063 a0001c0002t0004g0063	1	356	0.0028	42	c.50- others(57): Show c.50-3628_50-3587dupATGTATATATATGTACATATATGTATATAT ATGTACATATAT		LIPH	ENSG00000163898.10	transcript	ENST00000296252.9	protein_coding	1/9						chr3	TogoVar
LMAN2_chr5_177326567_177356668	177343584	C C	CACACACA others(35): Show CACACACACACGGAATGTGGTCTAGACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02647.hp2 HG02922.hp2 others(8): Show HG01167.hp2 HG02647.hp2 HG02922.hp2 HG02970.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA19043.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0191 a0001c0001t0001g0216 a0001c0001t0002g0037 others(6): Show a0001c0001t0001g0191 a0001c0001t0001g0216 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0227	11	239	0.0460	42	c.316 others(59): Show c.316-4980_316-4979insTTGTGTGTGTGTGTGTGTCTAGACCACA TTCCGTGTGTGTGT		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding	2/7						chr5	TogoVar
LMF1_chr16_848634_975984	953106	C C	CACGGACC others(35): Show CACGGACCCCAAACCAGCCTCCTACAAGTCCACAGAGACACGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp2 HG02109.hp1 others(12): Show HG00558.hp1 HG00738.hp2 HG02109.hp1 HG02109.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG03579.hp2 NA18522.hp2 NA18948.hp2 NA19043.hp1 NA19064.hp2 NA19066.hp2 NA19077.hp1 NA20805.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0041 a0004c0019 a0011c0047	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0001c0012t0001 a0001c0041t0001 a0004c0019t0001 a0011c0047t0010	a0001c0001t0001g0024 a0001c0002t0001g0041 a0001c0002t0002g0282 others(12): Show a0001c0001t0001g0024 a0001c0002t0001g0041 a0001c0002t0002g0282 a0001c0002t0011g0292 a0001c0004t0001g0059 a0001c0004t0001g0087 a0001c0005t0001g0129 a0001c0006t0001g0081 a0001c0010t0001g0279 a0001c0012t0001g0098 a0001c0012t0001g0099 a0001c0012t0001g0101 a0001c0041t0001g0088 a0004c0019t0001g0082 a0011c0047t0010g0281	15	288	0.0521	42	c.503 others(59): Show c.503+1250_503+1251insCCGTGTCTCTGTGGACTTGTAGGAGGCT GGTTTGGGGTCCGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953177	A A	ACACGGAC others(35): Show ACACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01978.hp1 HG02300.hp1 others(3): Show HG00741.hp2 HG01978.hp1 HG02300.hp1 HG02683.hp1 HG03239.hp1 NA18906.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0010 a0001c0033 a0004c0034 others(1): Show a0001c0010 a0001c0033 a0004c0034 a0008c0036	a0001c0010t0001 a0001c0033t0001 a0004c0034t0015 others(1): Show a0001c0010t0001 a0001c0033t0001 a0004c0034t0015 a0008c0036t0003	a0001c0010t0001g0112 a0001c0010t0001g0272 a0001c0010t0001g0276 others(3): Show a0001c0010t0001g0112 a0001c0010t0001g0272 a0001c0010t0001g0276 a0001c0033t0001g0274 a0004c0034t0015g0273 a0008c0036t0003g0275	6	189	0.0317	42	c.503 others(59): Show c.503+1179_503+1180insGGTGTCTGTGTGGACGTGTAGGAGGCTG GTTTGGGGTCCGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953511	A A	ACACCCAC others(35): Show ACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0285 a0001c0002t0002g0285	1	227	0.0044	42	c.503 others(57): Show c.503+845_503+846insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT TTGGGGTGGGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953511	A A	ACACCCAC others(35): Show ACACCCACCCCGCACCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0149 a0001c0011t0001g0149	1	227	0.0044	42	c.503 others(57): Show c.503+845_503+846insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GCGGGGTGGGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953511	A A	ACACCCAC others(35): Show ACACCCACTCCAAACCAGCCTCCTGCACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0030 a0001c0004t0004g0030	1	227	0.0044	42	c.503 others(57): Show c.503+845_503+846insGGTGTCTGTGTGGACGTGCAGGAGGCTGGT TTGGAGTGGGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953512	C C	CACCCACC others(35): Show CACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01069.hp1 others(35): Show HG00544.hp2 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01168.hp1 HG02004.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02257.hp2 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02896.hp1 HG02976.hp2 HG03130.hp1 HG03486.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18947.hp1 NA18975.hp1 NA18982.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp2 NA19088.hp1 NA20752.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0008	a0001c0002 a0001c0004 a0001c0005 others(10): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0013 a0001c0044 a0001c0067 a0002c0016 a0002c0017 a0004c0019 a0005c0043 a0008c0045	a0001c0002t0001 a0001c0004t0001 a0001c0004t0016 others(14): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0016 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0013t0001 a0001c0013t0014 a0001c0044t0001 a0001c0067t0001 a0002c0016t0001 a0002c0017t0001 a0004c0019t0001 a0005c0043t0003 a0008c0045t0003	a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 others(35): Show a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0004t0001g0054 a0001c0004t0016g0025 a0001c0005t0001g0037 a0001c0005t0001g0047 a0001c0005t0001g0068 a0001c0006t0001g0073 a0001c0006t0001g0286 a0001c0006t0001g0290 a0001c0006t0001g0291 a0001c0006t0002g0287 a0001c0006t0002g0288 a0001c0008t0001g0055 a0001c0008t0001g0056 a0001c0008t0001g0074 a0001c0008t0001g0089 a0001c0008t0002g0057 a0001c0013t0001g0042 a0001c0013t0014g0022 a0001c0044t0001g0034 a0001c0067t0001g0075 a0002c0016t0001g0062 a0002c0017t0001g0080 a0002c0017t0001g0096 a0004c0019t0001g0079 a0005c0043t0003g0119 a0008c0045t0003g0066	38	270	0.1407	42	c.503 others(57): Show c.503+844_503+845insCCGTGTCTGTGTGAACGTGTAGGAGGCTGG TTTGGGGTGGGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953651	A A	ACACCCAC others(35): Show ACACCCACCCCACACCAGCCTCCTACACGTTCACACAGACACC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0168 a0001c0013t0001g0168	1	179	0.0056	42	c.503 others(57): Show c.503+705_503+706insGGTGTCTGTGTGAACGTGTAGGAGGCTGGT GTGGGGTGGGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953875	A A	ACACCCAC others(35): Show ACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18964.hp1 HG02145.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0175 a0001c0003t0001g0163 a0001c0001t0003g0175 a0001c0003t0001g0163	2	155	0.0129	42	c.503 others(57): Show c.503+481_503+482insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GTGGGGTGGGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953875	A A	ACACCCAC others(35): Show ACACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0012 a0012	a0012c0037 a0012c0037	a0012c0037t0005 a0012c0037t0005	a0012c0037t0005g0278 a0012c0037t0005g0278	1	154	0.0065	42	c.503 others(57): Show c.503+481_503+482insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT TTGGAGTGGGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953875	A A	ACACCCAC others(35): Show ACACCCACTCCAAACCAGCCTCCTACATGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02300.hp1 HG02683.hp1 others(1): Show HG00741.hp2 HG02300.hp1 HG02683.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0010 a0001c0033 a0004c0034 a0001c0010 a0001c0033 a0004c0034	a0001c0010t0001 a0001c0033t0001 a0004c0034t0015 a0001c0010t0001 a0001c0033t0001 a0004c0034t0015	a0001c0010t0001g0112 a0001c0010t0001g0272 a0001c0033t0001g0274 others(1): Show a0001c0010t0001g0112 a0001c0010t0001g0272 a0001c0033t0001g0274 a0004c0034t0015g0273	4	157	0.0255	42	c.503 others(57): Show c.503+481_503+482insGGTGTCTGTGTGGACATGTAGGAGGCTGGT TTGGAGTGGGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953876	C C	CACCCACC others(35): Show CACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	266	0.0038	42	c.503 others(57): Show c.503+480_503+481insCCGTGTCTGTGTGAACGTGTAGGAGGCTGG TTTGGGGTGGGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953985	A A	ACACCCAC others(35): Show ACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	144	0.0069	42	c.503 others(57): Show c.503+371_503+372insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GTGGGGTGGGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953985	A A	ACACCCAC others(35): Show ACACCCACTCCAAACCAGCCTCCTGCACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0101 a0001c0012t0001g0101	1	144	0.0069	42	c.503 others(57): Show c.503+371_503+372insGGTGTCTGTGTGGACGTGCAGGAGGCTGGT TTGGAGTGGGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953986	C C	CACCCACC others(35): Show CACCCACCCCACACCAGCTTCCTACACGTTCACACAGACACGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0113 a0001c0005t0001g0113	1	261	0.0038	42	c.503 others(57): Show c.503+370_503+371insCCGTGTCTGTGTGAACGTGTAGGAAGCTGG TGTGGGGTGGGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953989	C C	CCACCCCA others(35): Show CCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0003 a0008c0036t0003	a0008c0036t0003g0275 a0008c0036t0003g0275	1	276	0.0036	42	c.503 others(57): Show c.503+367_503+368insAGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTTTGGGGTG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMOD1_chr1_201891456_201951548	201947181	G G	GGAGAGAG others(35): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0113 a0002c0002t0002g0113	1	57	0.0175	42	c.-84 others(51): Show c.-842_-841insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC		LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding					634		chr1	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0133 a0001c0001t0015g0133	1	255	0.0039	42	c.165 others(61): Show c.1657-1733_1657-1732insATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT		LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2						chr3	TogoVar
LMTK2_chr7_98101862_98214638	98140148	T T	TTCCTTCC others(35): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	290	0.0034	42	c.232 others(59): Show c.232-1248_232-1247insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CTTTCTTTCTTTCT		LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LMTK2_chr7_98101862_98214638	98140149	T T	TCCTTCCT others(35): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	296	0.0034	42	c.232 others(59): Show c.232-1248_232-1247insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC		LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13						chr7	TogoVar
LNPK_chr2_175918882_176007267	175951584	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0155 a0001c0001t0009g0155	1	112	0.0089	42	c.494 others(59): Show c.494-3893_494-3892insATATATATATATATATATATATATATAT ATATATATATATAT		LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12						chr2	TogoVar
LNPK_chr2_175918882_176007267	175951605	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATCTATATC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0122 a0001c0001t0012g0122	1	361	0.0028	42	c.494 others(59): Show c.494-3914_494-3913insGATATAGATATATATATATATATATATA TATATATATATATA		LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12						chr2	TogoVar
LNPK_chr2_175918882_176007267	175951607	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0138 a0001c0001t0008g0138	1	347	0.0029	42	c.494 others(59): Show c.494-3916_494-3915insGATATATATATATATATATATATATATA TATATATATATATA		LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12						chr2	TogoVar
LNX2_chr13_27540913_27625529	27583202	G G	GCGCGCGC others(35): Show GCGCGCGCACGCGTGCGCGCGCGTGTCCTCTCCAATATAACTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0048 a0001c0001t0015g0048	1	351	0.0028	42	c.-10 others(61): Show c.-100-1400_-100-1399insAAGTTATATTGGAGAGGACACGCGCG CGCACGCGTGCGCGCG		LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9						chr13	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	107	0.0093	42	c.-10 others(61): Show c.-100-1453_-100-1452insGCGCGCGCGCGCGCGCGCGCGCGCGC GCGCACACACACACAC		LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9						chr13	TogoVar
LOC102723971_chr9_135609183_135624893	135619921	A A	ATCTCCCC others(35): Show ATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCTTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	434	0.0023	42	c.96 others(51): Show c.969_*970insTCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCTTC TCCTCT		LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding					29		chr9	TogoVar
LOC112267897_chr13_63741741_63753176	63746853	G G	GTGGCTAT others(35): Show GTGGCTATGGCTCCAGCTATGGCTGTGGCTATGGCTCTGGTTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0000 a0002c0002t0006g0000	1	424	0.0024	42	c.65_ others(47): Show c.65_66insCAGCTATGGCTGTGGCTATGGCTCTGGTTATGGCTATGGC TC	p.Ser others(53): Show p.Ser22_Gly23insSerTyrGlyCysGlyTyrGlySerGlyTyrGlyT yrGlySer	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	126/1436	66/390	22/129		INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC114841035_chr11_64236095_64249132	64237085	A A	AAGAGAGA others(35): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	127	0.0079	42	c.-41 others(53): Show c.-4195_-4194insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG		LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding					4009		chr11	TogoVar
LOC127933115_chrX_23778278_23788367	23780502	A A	ATATATAT others(35): Show ATATATATATTATATATAATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	109	0.0092	42	c.-27 others(53): Show c.-2776_-2775insTATATATATTATATATAATATATATATAATATAT ATATATAT		LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding					2775		chrX	TogoVar
LOC127933115_chrX_23778278_23788367	23780502	A A	ATATATAT others(35): Show ATATATATATTATATATAATATATATATATAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	109	0.0092	42	c.-27 others(53): Show c.-2776_-2775insTATATATATTATATATAATATATATATATAATAT ATATATAT		LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding					2775		chrX	TogoVar
LOC127933115_chrX_23778278_23788367	23780502	A A	ATATATAT others(35): Show ATATATATTATATATAATATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01516.hp2 HG01517.hp1 HG00099.hp2 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	111	0.0270	42	c.-27 others(53): Show c.-2776_-2775insTATATATTATATATAATATATATATATAATATAT ATATATAT		LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding					2775		chrX	TogoVar
LOC128125818_chr4_6059977_6075162	6067649	A A	ACAGGTCA others(35): Show ACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	438	0.0023	42	c.106 others(59): Show c.106+2407_106+2408insCAGAAGAGCTTGAGTGAACGTGGAGCTC AGGGGGGTGACCTG		LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1						chr4	TogoVar
LOC729966_chr19_18245034_18260362	18251681	C C	CCCCCCGC others(35): Show CCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02071.hp2 HG04184.hp1 HG01192.hp2 HG02071.hp2 HG04184.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0062 a0003c0003t0001g0034 a0001c0001t0001g0062 a0003c0003t0001g0034	3	9	0.3333	42	c.496 others(57): Show c.496+382_496+383insCGGGGGCGGGGGCGGGGGCGGGGGCGGGGG CGGGGGCGGGGG		LOC729966	ENSG00000284797.2	transcript	ENST00000643046.2	protein_coding	2/3						chr19	TogoVar
LPIN2_chr18_2911999_3018144	2956311	G G	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0259 a0001c0001t0117g0259	1	21	0.0476	42	c.193 others(59): Show c.193-1713_193-1712insACACACACACACACACACACACACACAC ACACACACACACAC		LPIN2	ENSG00000101577.11	transcript	ENST00000677752.1	protein_coding	2/19						chr18	TogoVar
LPP_chr3_188149157_188895671	188613297	T T	TCTATATC others(35): Show TCTATATCTATACCTATATCTATATCTATATCTATATCTATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01256.hp2 others(1): Show HG01074.hp2 HG01167.hp1 HG01256.hp2 HG01361.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0010 a0001c0001 a0001c0006 a0004c0010	a0001c0001t0006 a0001c0001t0050 a0001c0006t0040 others(1): Show a0001c0001t0006 a0001c0001t0050 a0001c0006t0040 a0004c0010t0034	a0001c0001t0006g0032 a0001c0001t0050g0019 a0001c0006t0040g0002 others(1): Show a0001c0001t0006g0032 a0001c0001t0050g0019 a0001c0006t0040g0002 a0004c0010t0034g0063	4	74	0.0541	42	c.111 others(61): Show c.1113+3464_1113+3465insCCTATATCTATATCTATATCTATATC TATACCTATATCTATA		LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188843786	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0005 a0003c0011t0005	a0003c0011t0005g0071 a0003c0011t0005g0071	1	32	0.0313	42	c.141 others(63): Show c.1411-22402_1411-22401insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA		LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRBA_chr4_150259435_151020284	150658504	A A	ACTCTCCC others(35): Show ACTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	174	0.0057	42	c.592 others(63): Show c.5921+25046_5921+25047insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAG		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56						chr4	TogoVar
LRBA_chr4_150259435_151020284	150658505	G G	GTCTCCCT others(35): Show GTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02280.hp1 HG02630.hp1 others(1): Show HG01099.hp1 HG02280.hp1 HG02630.hp1 HG02922.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0014 a0002c0022 a0005c0038 others(1): Show a0001c0014 a0002c0022 a0005c0038 a0007c0020	a0001c0014t0001 a0002c0022t0001 a0005c0038t0002 others(1): Show a0001c0014t0001 a0002c0022t0001 a0005c0038t0002 a0007c0020t0001	a0001c0014t0001g0054 a0002c0022t0001g0114 a0005c0038t0002g0083 others(1): Show a0001c0014t0001g0054 a0002c0022t0001g0114 a0005c0038t0002g0083 a0007c0020t0001g0006	4	76	0.0526	42	c.592 others(63): Show c.5921+25004_5921+25045dupGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGA		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56						chr4	TogoVar
LRBA_chr4_150259435_151020284	150694462	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0011 a0011	a0011c0031 a0011c0031	a0011c0031t0001 a0011c0031t0001	a0011c0031t0001g0039 a0011c0031t0001g0039	1	32	0.0313	42	c.575 others(63): Show c.5755-10746_5755-10745insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	36/56						chr4	TogoVar
LRBA_chr4_150259435_151020284	150805325	A A	AAAGGAAA others(35): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAGAAGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0127 a0007c0016t0001g0127	1	173	0.0058	42	c.551 others(59): Show c.5518+945_5518+946insCTCCTTCTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTT		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	33/56						chr4	TogoVar
LRCH1_chr13_46548170_46749898	46573866	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	90	0.0111	42	c.307 others(61): Show c.307+20164_307+20165insATATATATATATATATATATATATAT ATATATATATATTTTT		LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr13	TogoVar
LRCH3_chr3_197786254_197893436	197817360	G G	GTGTGTGT others(35): Show GTGTGTGTCTGTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02647.hp2 HG02055.hp1 HG02451.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0040 a0001c0001t0002 a0001c0001t0027 a0001c0001t0040	a0001c0001t0002g0119 a0001c0001t0027g0117 a0001c0001t0040g0195 a0001c0001t0002g0119 a0001c0001t0027g0117 a0001c0001t0040g0195	3	26	0.1154	42	c.534 others(55): Show c.534+59_534+60insGTGTGTCTGTGTGTGTGTGTGTGTATATATAT ATATATATAT		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197817360	G G	GTGTGTGT others(35): Show GTGTGTGTCTGTGTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0111 a0002c0003t0002g0111	1	24	0.0417	42	c.534 others(55): Show c.534+59_534+60insGTGTGTCTGTGTGTGTGTGTGTGTGTGTATAT ATATATATAT		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197817360	G G	GTGTGTGT others(35): Show GTGTGTGTGTCTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02071.hp1 HG02071.hp2 others(2): Show HG00558.hp1 HG02071.hp1 HG02071.hp2 HG03579.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003	a0001c0001t0008 a0001c0002t0001 a0001c0011t0017 others(1): Show a0001c0001t0008 a0001c0002t0001 a0001c0011t0017 a0002c0003t0002	a0001c0001t0008g0273 a0001c0002t0001g0094 a0001c0011t0017g0237 others(2): Show a0001c0001t0008g0273 a0001c0002t0001g0094 a0001c0011t0017g0237 a0002c0003t0002g0092 a0002c0003t0002g0172	5	28	0.1786	42	c.534 others(55): Show c.534+59_534+60insGTGTGTGTCTGTGTGTGTGTGTGTGTATATAT ATATATATAT		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197817360	G G	GTGTGTGT others(35): Show GTGTGTGTGTCTGTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02300.hp2 HG02970.hp1 others(3): Show HG01081.hp1 HG02300.hp2 HG02970.hp1 HG03942.hp2 NA18990.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0054 a0001c0002t0015 others(1): Show a0001c0001t0001 a0001c0001t0054 a0001c0002t0015 a0001c0002t0042	a0001c0001t0001g0174 a0001c0001t0001g0191 a0001c0001t0001g0240 others(3): Show a0001c0001t0001g0174 a0001c0001t0001g0191 a0001c0001t0001g0240 a0001c0001t0054g0154 a0001c0002t0015g0252 a0001c0002t0042g0087	6	29	0.2069	42	c.534 others(55): Show c.534+59_534+60insGTGTGTGTCTGTGTGTGTGTGTGTGTGTATAT ATATATATAT		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197817360	G G	GTGTGTGT others(35): Show GTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02293.hp2 NA18945.hp2 others(3): Show HG00408.hp2 HG02293.hp2 NA18945.hp2 NA18963.hp1 NA18966.hp1 NA18970.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0001 a0001c0001t0005 a0001c0002t0025 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0025 a0004c0009t0068	a0001c0001t0001g0149 a0001c0001t0001g0217 a0001c0001t0001g0261 others(3): Show a0001c0001t0001g0149 a0001c0001t0001g0217 a0001c0001t0001g0261 a0001c0001t0005g0262 a0001c0002t0025g0130 a0004c0009t0068g0163	6	29	0.2069	42	c.534 others(55): Show c.534+59_534+60insGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTAT ATATATATAT		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRFN5_chr14_41601876_41909549	41734344	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19001.hp2 NA18984.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0246 a0001c0002t0003g0249 a0001c0002t0003g0246 a0001c0002t0003g0249	2	227	0.0088	42	c.-19 others(63): Show c.-196-32509_-196-32508insATATATATATATATATATATATAT ATATATATATATATATTT		LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
LRIT3_chr4_109843107_109877315	109850418	C C	CTTCTTTC others(35): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	247	0.0040	42	c.117 others(59): Show c.117-1086_117-1085insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT		LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3						chr4	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CCTTCCTT others(35): Show CCTTCCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0003 a0002c0001t0003g0003	1	17	0.0588	42	c.117 others(59): Show c.117-1079_117-1078insCCTTCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT		LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr4	TogoVar

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