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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LHFPL4_chr3_9493361_9558822	9557471	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	360	0.0028	22	c.-39 others(33): Show c.-3956_-3955insCTTTCTTTCTTTCTTTCTTTCT	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		3650		chr3	TogoVar
LHFPL5_chr6_35800352_35829070	35821481	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	386	0.0026	22	c.17 others(39): Show c.17-1488_*17-1487insGTGTGTGTATGTGTGTGTGTGT	LHFPL5	ENSG00000197753.11	transcript	ENST00000360215.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LHPP_chr10_124456823_124619141	124457275	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCCCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	260	0.0039	22	c.-45 others(33): Show c.-4588_-4587insTCTCTCTCTCTCTCCCTCTCTC	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding		4547		chr10	TogoVar
LHPP_chr10_124456823_124619141	124457275	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	260	0.0039	22	c.-45 others(33): Show c.-4588_-4587insTCTCTCTCTCTCTCTCTCTCTC	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding		4547		chr10	TogoVar
LHPP_chr10_124456823_124619141	124507697	T T	TGGGGGGG others(15): Show TGGGGGGGTAGGGAGGATTTCAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0258 a0003c0003t0002g0258	1	260	0.0039	22	c.625 others(39): Show c.625-9482_625-9481insGGGGGGTAGGGAGGATTTCAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHX4_chr1_180225264_180283984	180229959	C C	CGGAGGCG others(15): Show CGGAGGCGGGGGGGGCGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	402	0.0025	22	c.-57 others(31): Show c.-571_-570insGGAGGCGGGGGGGGCGGGGGGG	LHX4	ENSG00000121454.6	transcript	ENST00000263726.4	protein_coding		304		chr1	TogoVar
LHX4_chr1_180225264_180283984	180264378	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG01515.hp2 others(1): Show HG00099.hp1 HG00597.hp1 HG01515.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0011 a0001c0001t0029 others(1): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0029 a0002c0002t0001	a0001c0001t0009g0147 a0001c0001t0011g0052 a0001c0001t0029g0215 others(1): Show a0001c0001t0009g0147 a0001c0001t0011g0052 a0001c0001t0029g0215 a0002c0002t0001g0183	4	402	0.0100	22	c.249 others(39): Show c.249-2000_249-1979dupCACACACACACACACACACACA	LHX4	ENSG00000121454.6	transcript	ENST00000263726.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
LIFR_chr5_38469668_38561646	38517856	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01243.hp2 HG01361.hp2 others(3): Show HG00423.hp1 HG01243.hp2 HG01361.hp2 HG03239.hp2 HG03704.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0039 a0001c0001t0001 a0001c0001t0007 a0001c0001t0039	a0001c0001t0001g0216 a0001c0001t0001g0250 a0001c0001t0001g0253 others(3): Show a0001c0001t0001g0216 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0007g0127 a0001c0001t0039g0206	6	374	0.0160	22	c.561 others(39): Show c.561+5541_561+5562dupTTTTTTTTTTTTTTTTTTTTTT	LIFR	ENSG00000113594.10	transcript	ENST00000453190.7	protein_coding	5/19			chr5	TogoVar
LIG1_chr19_48110445_48175344	48142442	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01891.hp2 others(2): Show HG00735.hp1 HG00738.hp1 HG01891.hp2 HG02486.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0295 a0001c0001t0001g0301	5	330	0.0152	22	c.914 others(39): Show c.914+1100_914+1101insTTTTTTTTTTTTTTTTTTTTTT	LIG1	ENSG00000105486.15	transcript	ENST00000263274.12	protein_coding	11/27			chr19	TogoVar
LIG1_chr19_48110445_48175344	48153820	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	330	0.0030	22	c.466 others(35): Show c.466+30_466+51dupTGTGTGTGTGTGTGTGTGTGTG	LIG1	ENSG00000105486.15	transcript	ENST00000263274.12	protein_coding	6/27			chr19	TogoVar
LIG4_chr13_108202442_108220536	108207175	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01069.hp2 HG01099.hp1 others(8): Show HG00408.hp2 HG01069.hp2 HG01099.hp1 HG01943.hp1 HG02451.hp2 HG03139.hp2 HG03209.hp2 NA18522.hp1 NA18963.hp1 NA18977.hp2 NA18987.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0005c0006t0001 a0001c0001t0001 a0001c0001t0003 a0005c0006t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0033 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0061 a0001c0001t0001g0165 a0001c0001t0003g0045 a0005c0006t0001g0016 a0005c0006t0001g0088 a0005c0006t0001g0092	11	374	0.0294	22	c.13 others(33): Show c.1357_*1358insTTTTTTTTTTTTTTTTTTTTTT	LIG4	ENSG00000174405.15	transcript	ENST00000442234.6	protein_coding		266		chr13	TogoVar
LILRB5_chr19_54244421_54262273	54258247	C C	CATATATA others(15): Show CATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	474	0.0021	22	c.-10 others(33): Show c.-1055_-1054insATATATATATATATATATATAT	LILRB5	ENSG00000105609.17	transcript	ENST00000449561.3	protein_coding		975		chr19	TogoVar
LILRB5_chr19_54244421_54262273	54258277	T T	TATATATA others(15): Show TATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 NA19054.hp2 HG02738.hp2 NA19054.hp2	a0006 a0014 a0006 a0014	a0006c0010 a0014c0023 a0006c0010 a0014c0023	a0006c0010t0013 a0014c0023t0013 a0006c0010t0013 a0014c0023t0013	a0006c0010t0013g0032 a0014c0023t0013g0075 a0006c0010t0013g0032 a0014c0023t0013g0075	2	474	0.0042	22	c.-10 others(33): Show c.-1085_-1084insGTATATATATATATATATATAT	LILRB5	ENSG00000105609.17	transcript	ENST00000449561.3	protein_coding		1005		chr19	TogoVar
LIMA1_chr12_50170788_50288520	50175363	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	294	0.0034	22	c.17 others(33): Show c.1700_*1701insTTTTTTTTTTTTTTTTTTTTTT	LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding		424		chr12	TogoVar
LIMA1_chr12_50170788_50288520	50214024	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG02818.hp1 others(1): Show HG02622.hp1 HG02809.hp2 HG02818.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0167 a0001c0001t0003g0105 a0001c0001t0003g0108 others(1): Show a0001c0001t0001g0167 a0001c0001t0003g0105 a0001c0001t0003g0108 a0001c0001t0003g0112	4	294	0.0136	22	c.630 others(39): Show c.630+7975_631-7957dupTGTGTGTGTGTGTGTGTGTGTG	LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding	4/10			chr12	TogoVar
LIMA1_chr12_50170788_50288520	50214051	C C	CACACACA others(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02040.hp1 HG03831.hp1 HG01261.hp1 HG02040.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0002g0007 a0001c0001t0002g0064 a0001c0001t0001g0044 a0001c0001t0002g0007 a0001c0001t0002g0064	3	294	0.0102	22	c.630 others(39): Show c.630+7969_630+7970insATGTGTGTGTGTGTGTGTGTGT	LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding	4/10			chr12	TogoVar
LIMA1_chr12_50170788_50288520	50280144	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02897.hp1 HG02572.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0107 a0001c0001t0003g0106 a0001c0001t0001g0107 a0001c0001t0003g0106	2	294	0.0068	22	c.-24 others(39): Show c.-24+3254_-24+3275dupAAAAAAAAAAAAAAAAAAAAAA	LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding	1/10			chr12	TogoVar
LIMCH1_chr4_41533157_41705044	41557546	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0010 a0002c0002t0014g0010	1	154	0.0065	22	c.-24 others(43): Show c.-241+19204_-241+19225dupGTGTGTGTGTGTGTGTGTGTGT	LIMCH1	ENSG00000064042.18	transcript	ENST00000503057.6	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr4	TogoVar
LIMD1_chr3_45589751_45691341	45663868	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03225.hp1 NA18906.hp1 HG02451.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0111 a0001c0001t0155 a0001c0001t0096 a0001c0001t0111 a0001c0001t0155	a0001c0001t0096g0138 a0001c0001t0111g0133 a0001c0001t0155g0023 a0001c0001t0096g0138 a0001c0001t0111g0133 a0001c0001t0155g0023	3	358	0.0084	22	c.151 others(41): Show c.1511-1762_1511-1761insTTTTTTTTTTTTTTTTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0069 a0001c0001t0013g0069	1	358	0.0028	22	c.96 others(33): Show c.9604_*9605insTATATATATATATATATATATT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0099 a0001c0002t0099	a0001c0002t0099g0322 a0001c0002t0099g0322	1	358	0.0028	22	c.96 others(33): Show c.9604_*9605insTATATATATATATATATATTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02615.hp2 HG00140.hp1 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0098 a0001c0003t0141 a0001c0002t0098 a0001c0003t0141	a0001c0002t0098g0325 a0001c0003t0141g0153 a0001c0002t0098g0325 a0001c0003t0141g0153	2	358	0.0056	22	c.96 others(33): Show c.9604_*9605insTATATATATATATATATTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03688.hp1 HG02809.hp2 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0067 a0001c0002t0036 a0001c0002t0067	a0001c0002t0036g0320 a0001c0002t0067g0008 a0001c0002t0036g0320 a0001c0002t0067g0008	2	358	0.0056	22	c.96 others(33): Show c.9604_*9605insTATATATATATATATTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA20300.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0016 a0001c0001t0039g0020 a0001c0001t0039g0016 a0001c0001t0039g0020	2	358	0.0056	22	c.96 others(33): Show c.9604_*9605insTATATATATATATTTTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 NA19043.hp2 HG02559.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0011 a0001c0001t0009 a0001c0002t0011	a0001c0001t0009g0022 a0001c0002t0011g0034 a0001c0001t0009g0022 a0001c0002t0011g0034	2	358	0.0056	22	c.96 others(33): Show c.9604_*9605insTATATATATATTTTTTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMK1_chr7_74078804_74127525	74102484	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02976.hp1 NA18992.hp1 others(2): Show HG02040.hp2 HG02976.hp1 NA18992.hp1 NA18993.hp1 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0103 a0001c0001t0001g0213 a0001c0001t0001g0230 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0213 a0001c0001t0001g0230 a0002c0002t0001g0212 a0002c0002t0001g0223	5	302	0.0166	22	c.608 others(39): Show c.608+3264_608+3265insTTTTTTTTTTTTTTTTTTTTTT	LIMK1	ENSG00000106683.15	transcript	ENST00000336180.7	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
LIMK2_chr22_31207298_31285080	31246183	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01192.hp1 HG01168.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0310 a0001c0001t0001g0286 a0001c0001t0001g0310	2	358	0.0056	22	c.117 others(41): Show c.117-12096_117-12075dupACACACACACACACACACACAC	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31257040	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00735.hp2 others(5): Show HG00544.hp1 HG00639.hp2 HG00735.hp2 HG01934.hp2 NA18948.hp1 NA18969.hp1 NA18983.hp1 NA18989.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0163 a0001c0003t0003g0165 a0001c0003t0003g0189 others(5): Show a0001c0003t0003g0163 a0001c0003t0003g0165 a0001c0003t0003g0189 a0001c0003t0003g0197 a0001c0003t0003g0198 a0001c0003t0003g0200 a0001c0003t0003g0207 a0001c0003t0003g0209	8	358	0.0224	22	c.117 others(39): Show c.117-1238_117-1217dupTTTTTTTTTTTTTTTTTTTTTT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMS1_chr2_108529470_108692246	108556013	A A	ACAAATCT others(15): Show ACAAATCTATACATAGTGATGTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0236 a0001c0002t0004g0236	1	246	0.0041	22	c.32+ others(39): Show c.32+21423_32+21424insTCTATACATAGTGATGTTCAAA	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIMS1_chr2_108529470_108692246	108569764	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0218 a0001c0002t0007g0218	1	246	0.0041	22	c.32+ others(39): Show c.32+35189_32+35190insTTTTTTTTTTTTTTTTTTTTTT	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
LIN28B_chr6_104952107_105088332	105023372	T T	TATATATA others(15): Show TATATATAATTATATTATATATA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	278	0.0036	22	c.199 others(39): Show c.199-2918_199-2897dupATTATATTATATATAATATATA	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LIN28B_chr6_104952107_105088332	105023484	A A	ATATATAA others(15): Show ATATATAATATATATAATTATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01255.hp1 others(26): Show HG00735.hp1 HG01106.hp2 HG01255.hp1 HG01258.hp2 HG01516.hp1 HG02027.hp1 HG02165.hp2 HG02257.hp2 HG02698.hp1 HG02738.hp2 HG02965.hp2 HG03239.hp2 HG03490.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 NA18939.hp2 NA18957.hp2 NA18961.hp2 NA18984.hp2 NA18990.hp1 NA19003.hp2 NA19043.hp1 NA19064.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0051 others(26): Show a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0002g0020 a0001c0001t0002g0047 a0001c0001t0002g0110 a0001c0001t0002g0228 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0274 a0001c0001t0011g0089	29	278	0.1043	22	c.199 others(39): Show c.199-2774_199-2753dupTATATTATATAATATATATAAT	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LIN28B_chr6_104952107_105088332	105070592	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02976.hp2 HG03209.hp2 others(2): Show HG01358.hp2 HG02976.hp2 HG03209.hp2 HG03579.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0015 a0001c0001t0001g0232 a0001c0001t0004g0254 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0232 a0001c0001t0004g0254 a0001c0001t0006g0171 a0001c0001t0006g0173	5	278	0.0180	22	c.384 others(39): Show c.384-7794_384-7773dupACACACACACACACACACACAC	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LIN52_chr14_74079956_74206493	74130278	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	354	0.0028	22	c.283 others(41): Show c.283+29058_283+29059insTTTTTTTTTTTTTTTTTTTTTT	LIN52	ENSG00000205659.12	transcript	ENST00000555028.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LIN52_chr14_74079956_74206493	74130279	T T	TTTTTTTT others(15): Show TTTTTTTTTTGTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0086 a0001c0001t0012g0086	1	354	0.0028	22	c.283 others(41): Show c.283+29050_283+29051insGTTTTTTTTTTTGTTTTTTTTT	LIN52	ENSG00000205659.12	transcript	ENST00000555028.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LIN54_chr4_82919603_83015823	82947235	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0300 a0001c0001t0014g0300	1	304	0.0033	22	c.952 others(37): Show c.952-762_952-761insAAAAAAAAAAAAAAAAAAAAAA	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	4/12			chr4	TogoVar
LIN7A_chr12_80787520_80942934	80807063	G G	GTTTTTTT others(15): Show GTTTTTTTTTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	292	0.0034	22	c.702 others(39): Show c.702+4401_702+4402insAAAAAAAAAAAACAAAAAAAAA	LIN7A	ENSG00000111052.8	transcript	ENST00000552864.6	protein_coding	5/5			chr12	TogoVar
LIN7A_chr12_80787520_80942934	80807063	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	292	0.0034	22	c.702 others(39): Show c.702+4380_702+4401dupAAAAAAAAAAAAAAAAAAAAAA	LIN7A	ENSG00000111052.8	transcript	ENST00000552864.6	protein_coding	5/5			chr12	TogoVar
LIN7A_chr12_80787520_80942934	80820630	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0029 a0001c0001t0023g0195 a0001c0001t0005g0029 a0001c0001t0023g0195	2	292	0.0069	22	c.484 others(39): Show c.484-8969_484-8948dupGTGTGTGTGTGTGTGTGTGTGT	LIN7A	ENSG00000111052.8	transcript	ENST00000552864.6	protein_coding	4/5			chr12	TogoVar
LIN7A_chr12_80787520_80942934	80901686	T T	TACAAATT others(15): Show TACAAATTTAACTTTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG01081.hp2 others(30): Show HG00438.hp2 HG00733.hp2 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01928.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02135.hp1 HG03491.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04228.hp1 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA19005.hp2 NA19063.hp2 NA19066.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0028	a0001c0001t0001g0038 a0001c0001t0001g0143 a0001c0001t0001g0160 others(30): Show a0001c0001t0001g0038 a0001c0001t0001g0143 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0001g0257 a0001c0001t0002g0129 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0007g0222 a0001c0001t0009g0164 a0001c0001t0017g0128 a0001c0001t0028g0286	33	292	0.1130	22	c.83- others(39): Show c.83-12339_83-12318dupGGACAGGAAAAGTTAAATTTGT	LIN7A	ENSG00000111052.8	transcript	ENST00000552864.6	protein_coding	1/5			chr12	TogoVar
LINGO2_chr9_27932617_29218601	27981550	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01261.hp2 HG00639.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0046 a0001c0001t0032g0023 a0001c0001t0001g0046 a0001c0001t0032g0023	2	62	0.0323	22	c.-35 others(41): Show c.-35-30845_-35-30844insCTTTTTTTTTTTTTTTTTTTTT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28233061	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	62	0.0161	22	c.-36 others(41): Show c.-36+62146_-36+62147insTTATATATATATATATATATAT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28384329	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp2 HG02895.hp2 others(2): Show HG00639.hp2 HG02451.hp2 HG02895.hp2 HG02897.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0036	a0001c0001t0005g0057 a0001c0001t0006g0003 a0001c0001t0006g0004 others(2): Show a0001c0001t0005g0057 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0014g0008 a0001c0001t0036g0062	5	62	0.0807	22	c.-22 others(43): Show c.-227-11462_-227-11461insTATATATATATATATATATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	4/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28433949	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	62	0.0161	22	c.-22 others(43): Show c.-228+41990_-228+41991insTATATATATATATATATATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	4/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28744609	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00741.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 a0001c0001t0001 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0046 a0001c0001t0015g0012 a0001c0001t0016g0011 a0001c0001t0001g0046 a0001c0001t0015g0012 a0001c0001t0016g0011	3	62	0.0484	22	c.-39 others(43): Show c.-394-74351_-394-74330dupACACACACACACACACACACAC	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28790325	C C	CTTTCTTT others(15): Show CTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0060 a0001c0001t0035g0060	1	62	0.0161	22	c.-39 others(45): Show c.-394-120046_-394-120045insAAAAAAAAAAAAAAAAAAGAAA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28797359	T T	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0030 a0001c0001t0027g0030	1	62	0.0161	22	c.-39 others(45): Show c.-394-127080_-394-127079insCTCTCTCTCTCTCTCTCTATAT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28797359	T T	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0031 a0001c0001t0022g0031	1	62	0.0161	22	c.-39 others(45): Show c.-394-127080_-394-127079insCTCTCTCTCTCTCTATATATAT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28837649	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01261.hp2 HG06807.hp1 HG00639.hp2 HG01261.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0001c0001t0032 a0002c0002t0001 a0001c0001t0014 a0001c0001t0032 a0002c0002t0001	a0001c0001t0014g0008 a0001c0001t0032g0023 a0002c0002t0001g0050 a0001c0001t0014g0008 a0001c0001t0032g0023 a0002c0002t0001g0050	3	62	0.0484	22	c.-39 others(45): Show c.-395+110168_-395+110169insATATATATATATATATATATAT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28883628	G G	GTGTGTAT others(15): Show GTGTGTATGTATATATATGTATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	62	0.0161	22	c.-39 others(43): Show c.-395+64189_-395+64190insTATACATATATATACATACACA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar

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