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
KIRREL2_chr19_35851911_35872136	35864741	T T	TCACCCCC others(34): Show TCACCCCCTACTCACCCATGCCCTTGCCTCTCTCCACCCTAC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	338	0.0030	41	c.179 others(56): Show c.1791+28_1791+29insCACCCCCTACTCACCCATGCCCTTGCCTCT CTCCACCCTAC	KIRREL2	ENSG00000126259.20	transcript	ENST00000360202.10	protein_coding	14/14			chr19	TogoVar
KIRREL3_chr11_126418358_127005770	126923176	C C	CTTCTTCT others(34): Show CTTCTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTTCTCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0036 a0001c0001t0045g0036	1	58	0.0172	41	c.55+ others(58): Show c.55+77278_55+77279insAGAGAAGAAGAAGAAGAGAAGAAGAAGA AGAAGAAGAAGAA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KLHDC10_chr7_130065534_130140705	130128889	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0077 a0001c0001t0004g0077	1	173	0.0058	41	c.980 others(56): Show c.980-547_980-546insAAAAAAATATATATATATATATATATATAT ATATATATATA	KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	26	0.0385	41	c.22 others(52): Show c.2297_*2298insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	26	0.0385	41	c.22 others(52): Show c.2297_*2298insAAAAAAAAAAAATATATATATATATATATATATA TATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG03041.hp1 HG01928.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0162 a0001c0001t0001g0090 a0001c0001t0001g0162	2	27	0.0741	41	c.22 others(52): Show c.2297_*2298insAAAAAATATATATATATATATATATATATATATA TATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC4_chr16_87702812_87770986	87706118	A A	AGCAAACA others(34): Show AGCAAACACAAGCTGCAGCCCTCGCGGGGGGGTCAGCGTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	378	0.0026	41	c.19 others(52): Show c.1918_*1958dupATTACGCTGACCCCCCCGCGAGGGCTGCAGCTTG TGTTTGC	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		1693		chr16	TogoVar
KLHL14_chr18_32667673_32778023	32773926	G G	GTTTTTTT others(34): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	10	0.1000	41	c.-13 others(52): Show c.-1304_-1303insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	KLHL14	ENSG00000197705.10	transcript	ENST00000359358.9	protein_coding		904		chr18	TogoVar
KLHL20_chr1_173709981_173791692	173755722	A A	AAGATAAG others(34): Show AAGATAAGCTAAAAAATAAATAAAAAAAAAGATATCTAAAAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	308	0.0032	41	c.852 others(56): Show c.852-200_852-199insGATAAGCTAAAAAATAAATAAAAAAAAAGA TATCTAAAATA	KLHL20	ENSG00000076321.11	transcript	ENST00000209884.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
KRT2_chr12_52639558_52657211	52647892	T T	TCCTCCCC others(34): Show TCCTCCCCCTTCCCTCCCCCCCTTCCCCCCCCCTTCCCCAGG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0071 a0014c0018t0001g0071	1	464	0.0022	41	c.112 others(56): Show c.1123-38_1123-37insCCTGGGGAAGGGGGGGGGAAGGGGGGGAGG GAAGGGGGAGG	KRT2	ENSG00000172867.4	transcript	ENST00000309680.4	protein_coding	5/8			chr12	TogoVar
KRT8_chr12_52892191_52910076	52894985	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	334	0.0030	41	c.24 others(52): Show c.2442_*2443insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2205		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894989	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	320	0.0031	41	c.24 others(52): Show c.2438_*2439insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2201		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894997	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	1	357	0.0028	41	c.24 others(52): Show c.2430_*2431insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2193		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894997	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0031 a0001c0002t0004g0031	1	357	0.0028	41	c.24 others(52): Show c.2430_*2431insCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2193		chr12	TogoVar
KRT8_chr12_52892191_52910076	52895015	A A	AAAGAAAG others(34): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	384	0.0026	41	c.24 others(52): Show c.2412_*2413insACTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2175		chr12	TogoVar
KRTAP10-12_chr21_44692172_44703044	44697007	T T	TCCCATCC others(34): Show TCCCATCCAGCACCCAGACGCTCACTCACTCCCTCCCTCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG03704.hp1 HG01070.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	350	0.0057	41	c.-19 others(50): Show c.-195_-194insCCCATCCAGCACCCAGACGCTCACTCACTCCCTCCC TCCTG	KRTAP10-12	ENSG00000189169.8	transcript	ENST00000400365.3	protein_coding		164		chr21	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGGAAAGGAAAGAAAGAAAGAAAGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	253	0.0040	41	c.49 others(52): Show c.4943_*4944insTTTCCTTCTTTCTTTCTTTCTTTCCTTTCCTTTC TTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP25-1_chr21_30284145_30294514	30285520	A A	AATCGTTA others(34): Show AATCGTTATAATCCAAAAAAGGTAGGGAATGTATTTCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	450	0.0022	41	c.36 others(52): Show c.3661_*3662insAGGGAGAAATACATTCCCTACCTTTTTTGGATTA TAACGAT	KRTAP25-1	ENSG00000232263.1	transcript	ENST00000416044.1	protein_coding		3624		chr21	TogoVar
KRTAP4-9_chr17_41100389_41111488	41110054	C C	CAAGAAAG others(34): Show CAAGAAAGAAAGAAAGCAAGCAAGAAAGAAAGAAAGAAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00621.hp1 others(35): Show HG00280.hp1 HG00423.hp2 HG00621.hp1 HG01106.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01433.hp1 HG01433.hp2 HG01952.hp1 HG01993.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG04199.hp1 NA18947.hp1 NA18981.hp1 NA18982.hp1 NA18987.hp1 NA19043.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	38	167	0.2275	41	c.40 others(52): Show c.4033_*4034insAAGAAAGAAAGAAAGCAAGCAAGAAAGAAAGAAA GAAAAGA	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		3567		chr17	TogoVar
KRTAP4-9_chr17_41100389_41111488	41110054	C C	CAAGAAAG others(34): Show CAAGAAAGAAAGAAAGCAAGCAAGCAAGAAAGAAAGAAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01175.hp2 NA20805.hp2 HG01081.hp2 HG01175.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	132	0.0227	41	c.40 others(52): Show c.4033_*4034insAAGAAAGAAAGAAAGCAAGCAAGCAAGAAAGAAA GAAAAGA	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		3567		chr17	TogoVar
KRTAP4-9_chr17_41100389_41111488	41110054	C C	CAAGCAAG others(34): Show CAAGCAAGAAAGAAAGCAAGCAAGAAAGAAAGAAAGAAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03491.hp2 NA18612.hp1 others(2): Show HG02735.hp2 HG03491.hp2 NA18612.hp1 NA18963.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	134	0.0373	41	c.40 others(52): Show c.4033_*4034insAAGCAAGAAAGAAAGCAAGCAAGAAAGAAAGAAA GAAAAGA	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		3567		chr17	TogoVar
L3MBTL4_chr18_5949717_6419911	6099585	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp2 NA19002.hp1 NA19002.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0002 a0005c0009t0002 a0001c0001t0002 a0005c0009t0002	a0001c0001t0002g0020 a0005c0009t0002g0012 a0001c0001t0002g0020 a0005c0009t0002g0012	2	3	0.6667	41	c.120 others(60): Show c.1200-6058_1200-6057insATATATATATATATATATATATATAT ATATATATATATATA	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
LAMA5_chr20_62304065_62372312	62360462	T T	TGGGTGGA others(34): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02129.hp1 NA19010.hp1 HG02040.hp1 HG02129.hp1 NA19010.hp1	a0004 a0056 a0095 a0004 a0056 a0095	a0004c0091 a0056c0101 a0095c0103 a0004c0091 a0056c0101 a0095c0103	a0004c0091t0004 a0056c0101t0001 a0095c0103t0001 a0004c0091t0004 a0056c0101t0001 a0095c0103t0001	a0004c0091t0004g0001 a0056c0101t0001g0143 a0095c0103t0001g0131 a0004c0091t0004g0001 a0056c0101t0001g0143 a0095c0103t0001g0131	3	162	0.0185	41	c.450 others(58): Show c.450+1937_450+1938insTACCTATCCTTCTACCCACCCACCCATC TATCCCTCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360546	G G	GGTGGAGG others(34): Show GGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATAGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0049 a0049	a0049c0059 a0049c0059	a0049c0059t0001 a0049c0059t0001	a0049c0059t0001g0031 a0049c0059t0001g0031	1	163	0.0061	41	c.450 others(58): Show c.450+1853_450+1854insTCTATCCCTCCACCCACCCACCCACCCA TCTATCCCTCCAC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(34): Show GTGTGTGTGTGTATATATATATATATATATACTGTATATATA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19084.hp1 NA19005.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0056 a0001c0002t0002g0016 a0001c0002t0002g0056	2	130	0.0154	41	c.419 others(60): Show c.419-25551_419-25550insGTGTGTGTGTATATATATATATATAT ATACTGTATATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(34): Show GTGTGTGTGTGTATATATATATATATATATATACTGTATATA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0019 a0019	a0019c0038 a0019c0038	a0019c0038t0002 a0019c0038t0002	a0019c0038t0002g0081 a0019c0038t0002g0081	1	129	0.0078	41	c.419 others(60): Show c.419-25551_419-25550insGTGTGTGTGTATATATATATATATAT ATATACTGTATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0152 a0001c0003t0003g0152	1	255	0.0039	41	c.218 others(56): Show c.218+246_218+247insATATATATATATATATATATATATATATAT ATATGTATGTA	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12			chr4	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(34): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0254 a0001c0001t0034g0254	1	196	0.0051	41	c.603 others(58): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	9	0.1111	41	c.988 others(58): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4_chr12_50395885_50485004	50446360	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA21309.hp1 HG02970.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0160 a0001c0001t0008g0184 a0001c0001t0001g0160 a0001c0001t0008g0184	2	291	0.0069	41	c.804 others(58): Show c.804+4728_804+4729insCCCCCCCTTCCCCTCCCCCTCCCCCTCT CCCTCTCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446362	T T	TCTCTCTC others(34): Show TCTCTCTCTCCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	295	0.0034	41	c.804 others(58): Show c.804+4728_804+4729insCCCCCCCCCTTCCCCTCCCCCTCCCCCT CTCCCTCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446362	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0188 a0003c0003t0001g0188	1	295	0.0034	41	c.804 others(58): Show c.804+4730_804+4731insCCCCCCCTTCCCCTCCCCCTCCCCCTCT CCCTCTCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446364	T T	TCTCCCCC others(34): Show TCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG04228.hp2 HG03491.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0232 a0001c0001t0001g0238	2	297	0.0067	41	c.804 others(58): Show c.804+4724_804+4725insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446368	T T	TCTCCCCC others(34): Show TCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19005.hp2 HG02165.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0256 a0001c0001t0001g0247 a0001c0001t0001g0256	2	287	0.0070	41	c.804 others(58): Show c.804+4728_804+4729insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LATS2_chr13_20968036_21066586	21007545	G G	GTATATAT others(34): Show GTATATATATATATATATATATATATATATATATATATAGTA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0234 a0003c0003t0001g0234	1	199	0.0050	41	c.343 others(60): Show c.343-16142_343-16141insTACTATATATATATATATATATATAT ATATATATATATATA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LCN12_chr9_136947273_136960497	136951025	G G	GTGGGAGG others(34): Show GTGGGAGGGGGCAGCCAGGACAGGGACCTGGTGGGAGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG01175.hp1 others(6): Show HG00099.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG02135.hp2 HG02683.hp2 HG02698.hp1 HG03710.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	9	20	0.4500	41	c.-13 others(52): Show c.-1303_-1302insTGGGAGGGGGCAGCCAGGACAGGGACCTGGTGGG AGGAGGT	LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding		1247		chr9	TogoVar
LCP2_chr5_170241233_170302777	170289714	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCCTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02622.hp1 others(2): Show HG02572.hp1 HG02572.hp2 HG02622.hp1 HG03098.hp2 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0003c0012	a0001c0002t0001 a0001c0002t0003 a0001c0003t0013 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0013 a0001c0004t0001 a0003c0012t0001	a0001c0002t0001g0330 a0001c0002t0003g0010 a0001c0003t0013g0283 others(2): Show a0001c0002t0001g0330 a0001c0002t0003g0010 a0001c0003t0013g0283 a0001c0004t0001g0329 a0003c0012t0001g0282	5	380	0.0132	41	c.142 others(58): Show c.142-1699_142-1698insGAAAGAAGGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGAG	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LGSN_chr6_63270951_63324983	63281302	A A	AAAATATA others(34): Show AAAATATATATATATATATATATATATATATATATATATAAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	305	0.0033	41	c.331 others(54): Show c.331-83_331-82insATTATATATATATATATATATATATATATATA TATATATTT	LGSN	ENSG00000146166.17	transcript	ENST00000370657.9	protein_coding	3/3			chr6	TogoVar
LGSN_chr6_63270951_63324983	63281304	A A	AATATATA others(34): Show AATATATATATATATATATATATATATATATATATAATAAAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	108	0.0093	41	c.331 others(54): Show c.331-85_331-84insATTTATTATATATATATATATATATATATATA TATATATAT	LGSN	ENSG00000146166.17	transcript	ENST00000370657.9	protein_coding	3/3			chr6	TogoVar
LHFPL2_chr5_78480230_78653772	78651583	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	100	0.0100	41	c.-34 others(52): Show c.-3435_-3434insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding		2812		chr5	TogoVar
LIN54_chr4_82919603_83015823	82947235	A A	ATATATAT others(34): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0290 a0001c0001t0008g0290	1	5	0.2000	41	c.952 others(56): Show c.952-762_952-761insAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATA	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	4/12			chr4	TogoVar
LIN54_chr4_82919603_83015823	83001858	A A	AAAAGGAA others(34): Show AAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03486.hp1 HG04199.hp2 others(1): Show HG02896.hp1 HG03486.hp1 HG04199.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0084 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0055 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0120	4	204	0.0196	41	c.-33 others(58): Show c.-33+8625_-33+8626insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTT	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	1/12			chr4	TogoVar
LINGO2_chr9_27932617_29218601	28367102	A A	ATATATAA others(34): Show ATATATAACTATATATATTATATATATAATATATATAACTAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp1 HG02630.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0039 a0001c0001t0021g0051 a0001c0001t0004g0039 a0001c0001t0021g0051	2	62	0.0323	41	c.-19 others(60): Show c.-195+5733_-195+5734insATAGTTATATATATTATATATATAAT ATATATAGTTATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	5/6			chr9	TogoVar
LIPG_chr18_49557057_49604185	49579188	G G	GGGAGAGG others(34): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	382	0.0026	41	c.794 others(58): Show c.794-2224_794-2184dupAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579218	G G	GGGAGAGG others(34): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0142 a0001c0001t0102g0142	1	380	0.0026	41	c.794 others(58): Show c.794-2177_794-2176insAGAGGGAGAGGGAGAGGGAGAGGAGAGG GAGAGGGAGAGGG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	859340	G G	GAGTGGTG others(34): Show GAGTGGTGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0023 a0023	a0023c0059 a0023c0059	a0023c0059t0002 a0023c0059t0002	a0023c0059t0002g0199 a0023c0059t0002g0199	1	149	0.0067	41	c.153 others(60): Show c.1530-4635_1530-4634insACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	882847	G G	GCCCAGCG others(34): Show GCCCAGCGGAGCCCATCGCAGGACCAGGAGAAAGAGGAGCCA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	290	0.0034	41	c.730 others(58): Show c.730-3151_730-3111dupTGGCTCCTCTTTCTCCTGGTCCTGCGAT GGGCTCCGCTGGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10			chr16	TogoVar
LMF1_chr16_848634_975984	920989	A A	ACTCGGCA others(34): Show ACTCGGCACCACGTGGCCCAGAGCAGGCTCGTGAGCTGGCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0001 a0002c0052t0001	a0002c0052t0001g0018 a0002c0052t0001g0018	1	292	0.0034	41	c.515 others(58): Show c.515-9951_515-9911dupAGGCCAGCTCACGAGCCTGCTCTGGGCC ACGTGGTGCCGAG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LMNTD2_chr11_549850_565738	555205	A A	AGGGGCGG others(34): Show AGGGGCGGGGAGGAGAGCGGAGGGGCGGGGAGGAGAGCGGAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0084 a0002c0008t0001g0084	1	386	0.0026	41	c.177 others(56): Show c.1774-95_1774-94insCTCCGCTCTCCTCCCCGCCCCTCCGCTCTC CTCCCCGCCCC	LMNTD2	ENSG00000185522.9	transcript	ENST00000329451.8	protein_coding	13/13			chr11	TogoVar
LMOD1_chr1_201891456_201951548	201947181	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0110 a0002c0002t0002g0110	1	57	0.0175	41	c.-84 others(50): Show c.-842_-841insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		634		chr1	TogoVar

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