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
LIPG_chr18_49557057_49604185	49558431	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG02735.hp1 HG00639.hp2 HG01106.hp2 HG02735.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0108 a0002c0002t0009 a0001c0001t0010 a0001c0001t0108 a0002c0002t0009	a0001c0001t0010g0152 a0001c0001t0108g0153 a0002c0002t0009g0357 a0001c0001t0010g0152 a0001c0001t0108g0153 a0002c0002t0009g0357	3	384	0.0078	30	c.-38 others(41): Show c.-3878_-3877insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding		3625		chr18	TogoVar
LIPG_chr18_49557057_49604185	49579001	G G	GGGGAGAG others(23): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG03516.hp1 others(2): Show HG02109.hp2 HG02258.hp2 HG03516.hp1 HG03834.hp1 NA18941.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0039 a0001c0001t0047 others(2): Show a0001c0001t0003 a0001c0001t0039 a0001c0001t0047 a0001c0001t0081 a0002c0002t0014	a0001c0001t0003g0125 a0001c0001t0039g0178 a0001c0001t0047g0207 others(2): Show a0001c0001t0003g0125 a0001c0001t0039g0178 a0001c0001t0047g0207 a0001c0001t0081g0269 a0002c0002t0014g0337	5	384	0.0130	30	c.794 others(47): Show c.794-2206_794-2177dupAGAGGGAGAGGGAGAGGGAGAGGGAGAG GG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579764	C C	CTTTCCTT others(23): Show CTTTCCTTTCCTTTCCTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02523.hp2 HG01358.hp1 HG02523.hp2	a0001 a0006 a0001 a0006	a0001c0005 a0006c0008 a0001c0005 a0006c0008	a0001c0005t0100 a0006c0008t0008 a0001c0005t0100 a0006c0008t0008	a0001c0005t0100g0183 a0006c0008t0008g0295 a0001c0005t0100g0183 a0006c0008t0008g0295	2	384	0.0052	30	c.794 others(47): Show c.794-1647_794-1646insCTTTCCTTTCCTTTCTTTTCTTTTCTTT TC	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579764	C C	CTTTCCTT others(23): Show CTTTCCTTTCCTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19240.hp1 HG02965.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0123 a0001c0001t0003 a0001c0001t0123	a0001c0001t0003g0011 a0001c0001t0123g0012 a0001c0001t0003g0011 a0001c0001t0123g0012	2	384	0.0052	30	c.794 others(47): Show c.794-1647_794-1646insCTTTCCTTTCTTTTCTTTTCTTTTCTTT TC	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579764	C C	CTTTCTTT others(23): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0016	a0003c0004t0016g0148 a0003c0004t0016g0148	1	384	0.0026	30	c.794 others(47): Show c.794-1623_794-1594dupTCTTTTCTTTTCTTTTCTTTTCTTTTCT TT	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPH_chr3_185501262_185557588	185528308	G G	GAAGAAAG others(23): Show GAAGAAAGAAAGAAGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0003 a0007c0005t0003	a0007c0005t0003g0201 a0007c0005t0003g0201	1	358	0.0028	30	c.527 others(45): Show c.527-724_527-723insTCTTTCTTTCTTTCTTCTTCTTTCTTTCTT	LIPH	ENSG00000163898.10	transcript	ENST00000296252.9	protein_coding	3/9			chr3	TogoVar
LIPI_chr21_14103813_14215955	14161609	A A	AATATACA others(23): Show AATATACATATATTATATATTAATGTATAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03834.hp1 NA18969.hp1 others(2): Show HG02109.hp1 HG03834.hp1 NA18969.hp1 NA18987.hp2 NA19005.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0007 a0003c0005t0002 a0003c0005t0007	a0003c0005t0002g0275 a0003c0005t0002g0283 a0003c0005t0002g0284 others(2): Show a0003c0005t0002g0275 a0003c0005t0002g0283 a0003c0005t0002g0284 a0003c0005t0002g0288 a0003c0005t0007g0322	5	362	0.0138	30	c.100 others(49): Show c.1006+1809_1006+1810insATTATACATTAATATATAATATATGT ATAT	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding	7/9			chr21	TogoVar
LIPI_chr21_14103813_14215955	14213002	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG02004.hp1 HG01168.hp1 HG02004.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0012 a0007c0009t0001g0012	2	362	0.0055	30	c.-21 others(41): Show c.-2158_-2157insATATATATATATATATATATATATATATAT	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2048		chr21	TogoVar
LIPM_chr10_88797730_88825546	88808910	C C	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG03098.hp2 HG00597.hp2 HG00609.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0094 a0001c0002t0001g0125 a0001c0005t0001g0205 a0001c0002t0001g0094 a0001c0002t0001g0125 a0001c0005t0001g0205	3	462	0.0065	30	c.265 others(45): Show c.265+526_265+555dupATTTTATTTTATTTTATTTTATTTTATTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIPM_chr10_88797730_88825546	88822544	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	462	0.0022	30	c.20 others(41): Show c.2043_*2044insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding		1999		chr10	TogoVar
LIPM_chr10_88797730_88825546	88823827	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	462	0.0022	30	c.33 others(41): Show c.3326_*3327insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding		3282		chr10	TogoVar
LIPT1_chr2_99149967_99168137	99166858	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	406	0.0025	30	c.37 others(41): Show c.3779_*3780insATATATATATATATATATATATATATATAT	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding		3722		chr2	TogoVar
LLPH_chr12_66111555_66135750	66128206	G G	GATTGAGA others(23): Show GATTGAGAAATACTGCTCTTTTCCTTGGGCA	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	364	0.0028	30	c.211 others(45): Show c.211+660_211+689dupTGCCCAAGGAAAAGAGCAGTATTTCTCAAT	LLPH	ENSG00000139233.7	transcript	ENST00000266604.7	protein_coding	2/2			chr12	TogoVar
LMF1_chr16_848634_975984	953215	C C	CCCAAACC others(23): Show CCCAAACCAGCCTCCTACATATCCACACAGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	294	0.0034	30	c.503 others(47): Show c.503+1141_503+1142insTCTGTGTGGATATGTAGGAGGCTGGTTT GG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	954023	C C	CCCAAACC others(23): Show CCCAAACCAGCCTCCTACACGTCCACACAGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0290 a0001c0006t0001g0290	1	294	0.0034	30	c.503 others(45): Show c.503+333_503+334insTCTGTGTGGACGTGTAGGAGGCTGGTTTGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMNA_chr1_156109711_156142866	156140160	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18951.hp1 NA19090.hp2 NA18946.hp1 NA18951.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0124 a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0124	3	286	0.0105	30	c.23 others(41): Show c.2396_*2397insACACACACACACACACACACACACACACAC	LMNA	ENSG00000160789.24	transcript	ENST00000677389.1	protein_coding		2295		chr1	TogoVar
LMNA_chr1_156109711_156145081	156140160	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18951.hp1 NA18946.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0058 a0001c0001t0001g0075	2	286	0.0070	30	c.10 others(41): Show c.1054_*1055insACACACACACACACACACACACACACACAC	LMNA	ENSG00000160789.24	transcript	ENST00000368300.9	protein_coding		80		chr1	TogoVar
LMNB1_chr5_126772136_126842020	126800981	A A	ATATATAT others(23): Show ATATATATATATATATATATAATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0311 a0001c0001t0003g0311	1	374	0.0027	30	c.360 others(47): Show c.360-3795_360-3794insTATATATATATATATATATAATTTTTTT TT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10			chr5	TogoVar
LMO7_chr13_75631330_75864866	75632862	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01346.hp2 HG02293.hp1 others(1): Show HG01106.hp1 HG01346.hp2 HG02293.hp1 HG03041.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0007c0009 a0001c0001 a0002c0003 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0007c0009t0009	a0001c0001t0001g0218 a0001c0001t0002g0265 a0002c0003t0001g0192 others(1): Show a0001c0001t0001g0218 a0001c0001t0002g0265 a0002c0003t0001g0192 a0007c0009t0009g0251	4	272	0.0147	30	c.-37 others(41): Show c.-3796_-3795insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding		3467		chr13	TogoVar
LMO7_chr13_75631330_75864866	75681700	G G	GTATGTGT others(23): Show GTATGTGTATATATATATGTATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0032 a0004c0004t0002g0032	1	272	0.0037	30	c.70- others(47): Show c.70-31478_70-31449dupGTGTATATATATATGTATATATATATAT AT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LMO7_chr13_75631330_75864866	75681718	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0225 a0003c0002t0001g0225	1	272	0.0037	30	c.70- others(47): Show c.70-31462_70-31433dupATATATATATATATATATATATATATAT AT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LMOD1_chr1_201891456_201951548	201901532	A A	ATATATAT others(23): Show ATATATATATATATATACACATATATATATG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	400	0.0025	30	c.262 others(45): Show c.262-782_262-781insCATATATATATGTGTATATATATATATATA	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding	1/2			chr1	TogoVar
LMOD1_chr1_201891456_201951548	201947181	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG03491.hp2 NA18998.hp1 HG02083.hp2 HG03491.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0060 a0001c0001t0001g0089 a0001c0001t0001g0096	3	400	0.0075	30	c.-84 others(39): Show c.-842_-841insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		634		chr1	TogoVar
LMOD1_chr1_201891456_201951548	201948342	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp2 NA19011.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0252 a0002c0002t0002g0258 a0001c0001t0001g0252 a0002c0002t0002g0258	2	400	0.0050	30	c.-20 others(41): Show c.-2003_-2002insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		1795		chr1	TogoVar
LMOD3_chr3_69101065_69127595	69109540	T T	TTTTTTTG others(23): Show TTTTTTTGAGATGGAGTCTCAGTCTATCTTC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0342 a0001c0002t0031g0342	1	428	0.0023	30	c.165 others(47): Show c.1657-420_1657-419insGAAGATAGACTGAGACTCCATCTCAAAA AA	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19062.hp1 NA19054.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0096 a0001c0001t0003g0086 a0001c0001t0003g0096	2	428	0.0047	30	c.165 others(49): Show c.1657-1733_1657-1732insATATATATATTTTTTTTTTTTTTTTT TTTT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18988.hp2 NA18950.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0083 a0001c0001t0021g0084 a0001c0001t0021g0083 a0001c0001t0021g0084	2	428	0.0047	30	c.165 others(49): Show c.1657-1733_1657-1732insATATATATATATTTTTTTTTTTTTTT TTTT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	428	0.0023	30	c.165 others(49): Show c.1657-1733_1657-1732insATATATATATATATTTTTTTTTTTTT TTTT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMTK2_chr7_98101862_98214638	98140149	T T	TCCTTCCT others(23): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	390	0.0026	30	c.232 others(47): Show c.232-1248_232-1247insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CC	LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13			chr7	TogoVar
LMX1A_chr1_165196867_165361715	165337888	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02922.hp1 others(2): Show HG01891.hp2 HG02055.hp1 HG02922.hp1 HG02965.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0004 a0001c0003t0001 a0001c0001t0001 a0001c0002t0004 a0001c0003t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0002t0004g0208 a0001c0003t0001g0127	5	288	0.0174	30	c.263 others(49): Show c.263+15187_263+15188insCACACACACACACACACACACACACA CACA	LMX1A	ENSG00000162761.14	transcript	ENST00000342310.7	protein_coding	3/8			chr1	TogoVar
LMX1B_chr9_126608928_126706032	126668443	T T	TTTATTAT others(23): Show TTTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02145.hp1 HG01192.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0102 a0001c0002t0104 a0001c0001t0102 a0001c0002t0104	a0001c0001t0102g0153 a0001c0002t0104g0194 a0001c0001t0102g0153 a0001c0002t0104g0194	2	342	0.0059	30	c.327 others(49): Show c.327-22367_327-22366insATTATTATTATTATTATTATTATTAT TATT	LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
LNPK_chr2_175918882_176007267	175941267	A A	ATATATTT others(23): Show ATATATTTATATTTATATTTATATTTATATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp1 HG01081.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0137 a0001c0001t0012g0142 a0001c0001t0009g0137 a0001c0001t0012g0142	2	368	0.0054	30	c.707 others(47): Show c.707-1640_707-1611dupAATATAAATATAAATATAAATATAAATA TA	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	9/12			chr2	TogoVar
LNPK_chr2_175918882_176007267	175951584	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG02004.hp2 others(17): Show HG01884.hp2 HG01934.hp1 HG02004.hp2 HG02132.hp1 HG02135.hp2 HG02559.hp1 HG02615.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp2 HG03927.hp2 HG04115.hp2 NA18942.hp1 NA18945.hp1 NA18975.hp1 NA19058.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 others(7): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0034 a0001c0001t0059 a0001c0001t0069 a0001c0001t0089	a0001c0001t0005g0095 a0001c0001t0005g0104 a0001c0001t0005g0105 others(17): Show a0001c0001t0005g0095 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0111 a0001c0001t0006g0153 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0010g0177 a0001c0001t0017g0149 a0001c0001t0017g0150 a0001c0001t0021g0098 a0001c0001t0021g0100 a0001c0001t0021g0113 a0001c0001t0021g0118 a0001c0001t0024g0174 a0001c0001t0024g0176 a0001c0001t0034g0159 a0001c0001t0059g0161 a0001c0001t0069g0158 a0001c0001t0089g0344	20	368	0.0544	30	c.494 others(47): Show c.494-3893_494-3892insATATATATATATATATATATATATATAT AT	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12			chr2	TogoVar
LNPK_chr2_175918882_176007267	175951605	A A	ATATATAT others(23): Show ATATATATATATATATATATATATCTATATC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0119 a0001c0001t0020g0119	1	368	0.0027	30	c.494 others(47): Show c.494-3914_494-3913insGATATAGATATATATATATATATATATA TA	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12			chr2	TogoVar
LNPK_chr2_175918882_176007267	175951607	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	368	0.0027	30	c.494 others(47): Show c.494-3916_494-3915insGATAGATATATATATATATATATATATA TA	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12			chr2	TogoVar
LNX1_chr4_53454301_53596486	53492506	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01496.hp1 HG02273.hp2 others(4): Show HG01358.hp1 HG01496.hp1 HG02273.hp2 HG03927.hp1 NA18747.hp1 NA18957.hp1 NA19077.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0094 a0001c0001t0001g0126 a0001c0001t0001g0185 others(4): Show a0001c0001t0001g0094 a0001c0001t0001g0126 a0001c0001t0001g0185 a0001c0001t0001g0248 a0001c0001t0001g0267 a0001c0001t0001g0292 a0006c0011t0001g0274	7	356	0.0197	30	c.135 others(49): Show c.1350+3487_1350+3516dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	6/10			chr4	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GCATATAT others(23): Show GCATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18952.hp2 HG02083.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0035 a0001c0001t0005g0031 a0001c0001t0005g0035	2	358	0.0056	30	c.122 others(47): Show c.1225-581_1225-580insTATATATATATATATATATATATATATA TG	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02615.hp1 HG02155.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0260 a0001c0001t0012g0020 a0001c0001t0002g0260 a0001c0001t0012g0020	2	358	0.0056	30	c.122 others(47): Show c.1225-581_1225-580insTATATATATATATATATATATATATATA TA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTATATAT others(23): Show GTATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0333 a0002c0002t0002g0333	1	358	0.0028	30	c.122 others(47): Show c.1225-581_1225-580insTATATACATATATATATATATATATATA TA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27608797	T T	TTTTTGTT others(23): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp1 NA19030.hp2 others(1): Show HG02970.hp1 HG03041.hp1 NA19030.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0009 a0002c0002t0002 a0001c0003t0009 a0002c0002t0002	a0001c0003t0009g0229 a0001c0003t0009g0243 a0001c0003t0009g0244 others(1): Show a0001c0003t0009g0229 a0001c0003t0009g0243 a0001c0003t0009g0244 a0002c0002t0002g0339	4	358	0.0112	30	c.-10 others(51): Show c.-101+11577_-101+11578insCAAAACAAAACAAAACAAAACAAA ACAAAA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LOC114841035_chr11_64236095_64249132	64237085	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	30	c.-41 others(41): Show c.-4195_-4194insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		4009		chr11	TogoVar
LOC128462377_chr16_89312046_89423292	89325288	A A	ATTAGCCG others(23): Show ATTAGCCGGGCACTGTGGTGCATGCTGGCGG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	366	0.0027	30	c.10- others(45): Show c.10-8243_10-8214dupCCGCCAGCATGCACCACAGTGCCCGGCTAA	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89327066	G G	GGGAAATG others(23): Show GGGAAATGCAGAGGTGGGGAATGCAGAGGTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	366	0.0027	30	c.10- others(45): Show c.10-9992_10-9991insAACCTCTGCATTCCCCACCTCTGCATTTCC	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89329995	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG03130.hp2 others(1): Show HG02109.hp1 HG02572.hp1 HG03130.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0364 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0364 a0001c0001t0001g0365	4	366	0.0109	30	c.10- others(47): Show c.10-12950_10-12921dupATTTTATTTTATTTTATTTTATTTTATT TT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89415829	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01361.hp2 HG02148.hp2 others(1): Show HG01358.hp2 HG01361.hp2 HG02148.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 others(1): Show a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187	4	366	0.0109	30	c.9+2 others(43): Show c.9+2454_9+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC729966_chr19_18245034_18260362	18251681	C C	CCCCCCGC others(23): Show CCCCCCGCCCCCGCCCCCGCCCCCGCCCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03490.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0013t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0013t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0024 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0057 a0001c0001t0001g0086 a0001c0001t0001g0111 a0001c0001t0003g0029 a0001c0013t0001g0073 a0002c0002t0001g0095 a0003c0003t0001g0002 a0003c0003t0001g0015 a0003c0003t0001g0022 a0003c0003t0001g0060 a0003c0003t0001g0080	126	454	0.2775	30	c.496 others(45): Show c.496+382_496+383insCGGGGGCGGGGGCGGGGGCGGGGGCGGGGG	LOC729966	ENSG00000284797.2	transcript	ENST00000643046.2	protein_coding	2/3			chr19	TogoVar
LOC729966_chr19_18245034_18260362	18251681	C C	CCCCCCGC others(23): Show CCCCCCGCCCCCGTCCCCGCCCCCGCCCCCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp1 HG02717.hp1 HG03225.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0044 a0004c0004t0002g0045 a0004c0004t0002g0044 a0004c0004t0002g0045	2	454	0.0044	30	c.496 others(45): Show c.496+382_496+383insCGGGGGCGGGGGCGGGGACGGGGGCGGGGG	LOC729966	ENSG00000284797.2	transcript	ENST00000643046.2	protein_coding	2/3			chr19	TogoVar
LOC93622_chr4_6669075_6681047	6678064	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 NA18944.hp1 NA18972.hp1 others(10): Show HG00544.hp1 NA18944.hp1 NA18972.hp1 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19058.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0000 a0001c0001t0008g0000 a0001c0001t0004g0000 a0001c0001t0008g0000	13	462	0.0281	30	c.34 others(41): Show c.3492_*3493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LOC93622	ENSG00000170846.17	transcript	ENST00000635031.2	protein_coding		2018		chr4	TogoVar
LOXHD1_chr18_46472273_46662220	46545627	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0140 a0003c0003t0001g0140	1	270	0.0037	30	c.351 others(47): Show c.3515-207_3515-206insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	22/40			chr18	TogoVar
LOXL2_chr8_23291897_23409120	23328709	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0002 a0002c0021t0002	a0002c0021t0002g0077 a0002c0021t0002g0077	1	348	0.0029	30	c.967 others(45): Show c.967-174_967-145dupCACACACACACACACACACACACACACACA	LOXL2	ENSG00000134013.16	transcript	ENST00000389131.8	protein_coding	5/13			chr8	TogoVar

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