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
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02965.hp2 NA18906.hp1 HG01515.hp2 HG02965.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0000 a0003c0004t0001g0000 a0001c0001t0001g0000 a0003c0004t0001g0000	3	256	0.0117	32	c.-11 others(43): Show c.-1137_-1136insTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGGAAAGAAAGAAAGAAAGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02074.hp1 HG02257.hp1 others(3): Show HG02071.hp2 HG02074.hp1 HG02257.hp1 NA19089.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	259	0.0232	32	c.-11 others(43): Show c.-1137_-1136insTTTCCTTCTTTCTTTCTTTCTTTCCTTTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGGAAAGAAAGAAAGAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	1	254	0.0039	32	c.-11 others(43): Show c.-1137_-1136insTTTCTTTCCTTCTTTCTTTCTTTCCTTTCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGGAA others(25): Show GAAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 NA18997.hp1 NA19064.hp1 others(1): Show HG02293.hp2 NA18997.hp1 NA19064.hp1 NA19085.hp1	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0007c0008 a0013c0015 a0001c0001 a0007c0008 a0013c0015	a0001c0001t0001 a0007c0008t0001 a0013c0015t0001 a0001c0001t0001 a0007c0008t0001 a0013c0015t0001	a0001c0001t0001g0000 a0007c0008t0001g0000 a0013c0015t0001g0000 a0001c0001t0001g0000 a0007c0008t0001g0000 a0013c0015t0001g0000	4	257	0.0156	32	c.-11 others(43): Show c.-1137_-1136insTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310409	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	54	0.0185	32	c.-11 others(43): Show c.-1157_-1156insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1101		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310386	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp2 NA18976.hp1 NA18966.hp1 NA18966.hp2 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0003t0001g0000	3	325	0.0092	32	c.49 others(43): Show c.4946_*4947insCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4525		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	253	0.0040	32	c.49 others(43): Show c.4943_*4944insTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 NA18993.hp1 HG01169.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	254	0.0079	32	c.49 others(43): Show c.4943_*4944insTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG02965.hp1 NA18906.hp1 HG01515.hp2 HG02965.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0003t0001g0000	3	255	0.0118	32	c.49 others(43): Show c.4943_*4944insTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(25): Show GAAAGAAAGGAAAGAAAGAAAGAAAGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02074.hp2 HG02257.hp1 others(2): Show HG02071.hp2 HG02074.hp2 HG02257.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	257	0.0195	32	c.49 others(43): Show c.4943_*4944insTTTCCTTCTTTCTTTCTTTCTTTCCTTTCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGGAA others(25): Show GAAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 NA19064.hp2 NA19090.hp2 HG02293.hp2 NA19064.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	255	0.0118	32	c.49 others(43): Show c.4943_*4944insTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310409	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	57	0.0175	32	c.49 others(43): Show c.4923_*4924insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4502		chr17	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562378	T T	TATATATA others(25): Show TATATATATATATACATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03834.hp1 HG03688.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	419	0.0048	32	c.-10 others(43): Show c.-1090_-1089insGTATATATATATATATATGTATATATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1065		chr21	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562380	T T	TATATATA others(25): Show TATATATATATACATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	410	0.0024	32	c.-10 others(43): Show c.-1092_-1091insGTGTATATATATATATATATGTATATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1067		chr21	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562384	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0000 a0001c0004t0001g0000	1	377	0.0027	32	c.-10 others(43): Show c.-1096_-1095insGTGTGTGTATATATATATATATATATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1071		chr21	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562392	T T	TATATATA others(25): Show TATATATATACACACATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	402	0.0025	32	c.-11 others(43): Show c.-1104_-1103insGTGTATATATATATATATGTGTGTATATATAT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1079		chr21	TogoVar
KRTAP2-1_chr17_41041541_41052316	41051131	A A	AATATATA others(25): Show AATATATATAATATATTATATATATAGTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	262	0.0038	32	c.-38 others(43): Show c.-3865_-3864insATTTTACTATATATATAATATATTATATATAT	KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding		3816		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41050842	T T	TAAAATAT others(25): Show TAAAATATATATTAATATATTACATATATAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0000 a0006c0009t0002g0000	1	409	0.0024	32	c.39 others(43): Show c.3997_*3998insTACTATATATGTAATATATTAATATATATTTT	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3655		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41051131	A A	AATATATA others(25): Show AATATATATAATATATTATATATATAGTAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	259	0.0039	32	c.37 others(43): Show c.3708_*3709insATTTTACTATATATATAATATATTATATATAT	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3366		chr17	TogoVar
KRTAP3-1_chr17_41003521_41014128	41007665	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 NA20300.hp1 HG03492.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	235	0.0085	32	c.11 others(43): Show c.1112_*1113insTATATATATATATATATATATATATATATATA	KRTAP3-1	ENSG00000212901.4	transcript	ENST00000391588.3	protein_coding		855		chr17	TogoVar
KRTAP3-2_chr17_40994193_41004906	41001915	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01099.hp2 others(20): Show HG00099.hp2 HG00280.hp1 HG01099.hp2 HG01192.hp1 HG02109.hp1 HG02148.hp2 HG02155.hp2 HG02602.hp2 HG02818.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18951.hp1 NA18959.hp1 NA18969.hp1 NA18991.hp1 NA19006.hp1 NA19055.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	23	470	0.0489	32	c.-20 others(43): Show c.-2063_-2062insTACACACACACACACACACATACACACACACA	KRTAP3-2	ENSG00000212900.3	transcript	ENST00000391587.3	protein_coding		2010		chr17	TogoVar
KRTAP3-3_chr17_40988430_40999164	40989333	A A	ATCCATAG others(25): Show ATCCATAGGTTATTAGAACTGTGTTGTTTGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	470	0.0021	32	c.44 others(43): Show c.4467_*4468insAATCAAACAACACAGTTCTAATAACCTATGGA	KRTAP3-3	ENSG00000212899.3	transcript	ENST00000391586.3	protein_coding		4096		chr17	TogoVar
KRTAP4-7_chr17_41079150_41090144	41090041	G G	GCAAGAAA others(25): Show GCAAGAAAGAGAAAGAAAGAAAGCAAGAAAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03471.hp2 NA21309.hp1 HG02109.hp1 HG03471.hp2 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0000 a0004c0004t0002g0000	3	383	0.0078	32	c.53 others(43): Show c.5367_*5368insCAAGAAAGAGAAAGAAAGAAAGCAAGAAAGCA	KRTAP4-7	ENSG00000240871.7	transcript	ENST00000391417.6	protein_coding		4898		chr17	TogoVar
KRTAP4-7_chr17_41079150_41090144	41090064	C C	CAAGAAAG others(25): Show CAAGAAAGCAAGAAAGCAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0000 a0004c0004t0002g0000	1	147	0.0068	32	c.53 others(43): Show c.5390_*5391insAAGAAAGCAAGAAAGCAAGAAAGAAAGAAAGA	KRTAP4-7	ENSG00000240871.7	transcript	ENST00000391417.6	protein_coding		4921		chr17	TogoVar
KRTAP4-9_chr17_41100389_41111488	41108195	C C	CCTTCCTT others(25): Show CCTTCCTTATAAGGAAGGCAAGATTTACTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18973.hp2 NA18976.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18987.hp1 NA18989.hp1 NA18993.hp1 NA19006.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	184	424	0.4340	32	c.21 others(43): Show c.2174_*2175insCTTCCTTATAAGGAAGGCAAGATTTACTTTTA	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		1708		chr17	TogoVar
KRTAP4-9_chr17_41100389_41111488	41108228	C C	CTTCCTTA others(25): Show CTTCCTTATAAGGAAGGCAAGATTTACTTTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02970.hp2 HG02647.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	424	0.0047	32	c.22 others(43): Show c.2207_*2208insTTCCTTATAAGGAAGGCAAGATTTACTTTTAT	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		1741		chr17	TogoVar
KRTAP4-9_chr17_41100389_41111488	41110042	A A	AAAGCAAG others(25): Show AAAGCAAGCAAGAAAGAAAGAAAGAAAGCAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	403	0.0025	32	c.40 others(43): Show c.4021_*4022insAAGCAAGCAAGAAAGAAAGAAAGAAAGCAAGC	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding		3555		chr17	TogoVar
KRTAP5-10_chr11_71560563_71571735	71569137	T T	TGGGGGGG others(25): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	466	0.0021	32	c.29 others(43): Show c.2941_*2942insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	KRTAP5-10	ENSG00000204572.10	transcript	ENST00000398531.3	protein_coding		2403		chr11	TogoVar
KRTAP5-1_chr11_1579342_1590283	1583879	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG01175.hp2 others(19): Show HG00408.hp1 HG00642.hp2 HG01175.hp2 HG01433.hp2 HG02027.hp2 HG02572.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03492.hp1 HG03704.hp1 NA18940.hp1 NA18945.hp2 NA18950.hp1 NA18973.hp1 NA18988.hp1 NA19007.hp2 NA19063.hp2 NA19087.hp1 NA20905.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0003 a0007c0008 a0002c0002 a0003c0003 a0007c0008	a0002c0002t0001 a0003c0003t0001 a0007c0008t0001 a0002c0002t0001 a0003c0003t0001 a0007c0008t0001	a0002c0002t0001g0000 a0003c0003t0001g0000 a0007c0008t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 a0007c0008t0001g0000	22	138	0.1594	32	c.53 others(41): Show c.533_*534insACACACACACACACACACACACACACACACAC	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		462		chr11	TogoVar
KRTAP5-3_chr11_1602565_1613463	1605805	T T	TTATGTAT others(25): Show TTATGTATGTATGTATGTATGTATGTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	426	0.0023	32	c.18 others(43): Show c.1863_*1864insCATACATACATACATACATACATACATACATA	KRTAP5-3	ENSG00000196224.7	transcript	ENST00000399685.1	protein_coding		1759		chr11	TogoVar
KRTAP5-5_chr11_1624775_1635930	1629420	G G	GCAAGACA others(25): Show GCAAGACACGATGCTCCCGCAGAGGAATCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01255.hp2 HG01261.hp1 others(2): Show HG01074.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG02273.hp2	a0005 a0009 a0005 a0009	a0005c0017 a0009c0010 a0005c0017 a0009c0010	a0005c0017t0004 a0009c0010t0004 a0005c0017t0004 a0009c0010t0004	a0005c0017t0004g0000 a0009c0010t0004g0000 a0005c0017t0004g0000 a0009c0010t0004g0000	5	444	0.0113	32	c.-42 others(41): Show c.-421_-420insCAAGACACGATGCTCCCGCAGAGGAATCTTCC	KRTAP5-5	ENSG00000185940.11	transcript	ENST00000399676.4	protein_coding		354		chr11	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522658	T T	TGCCGTAT others(25): Show TGCCGTATTCTTGGGCGAGTACGCTGGTGACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	458	0.0022	32	c.-46 others(43): Show c.-4643_-4642insGCCGTATTCTTGGGCGAGTACGCTGGTGACAC	KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding		4608		chr11	TogoVar
KRTAP7-1_chr21_30824039_30834759	30825678	G G	GAAAAGTT others(25): Show GAAAAGTTCAAGACGAGTCAGACAGGAATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	423	0.0024	32	c.37 others(43): Show c.3756_*3757insAGATATTCCTGTCTGACTCGTCTTGAACTTTT	KRTAP7-1	ENSG00000274749.1	transcript	ENST00000621162.1	protein_coding		3360		chr21	TogoVar
KRTAP9-6_chr17_41260378_41270860	41263222	T T	TGAAGGAA others(25): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01243.hp2 HG01516.hp2 others(11): Show HG00673.hp1 HG01243.hp2 HG01516.hp2 HG01517.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02818.hp1 HG04115.hp1 NA18967.hp1 NA18984.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	14	28	0.5000	32	c.-21 others(43): Show c.-2156_-2155insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	KRTAP9-6	ENSG00000212659.2	transcript	ENST00000391355.2	protein_coding		2155		chr17	TogoVar
KSR1_chr17_27451448_27631435	27563981	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02818.hp2 HG02486.hp2 HG02818.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0001 a0001c0010t0003g0001	2	67	0.0299	32	c.372 others(51): Show c.372+13298_372+13299insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR2_chr12_117448012_117973990	117611445	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0122 a0001c0003t0122	a0001c0003t0122g0136 a0001c0003t0122g0136	1	47	0.0213	32	c.117 others(53): Show c.1172-29087_1172-29086insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117656940	G G	GGAGATAT others(25): Show GGAGATATATATATATATATATATATAATAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02572.hp1 others(2): Show HG01243.hp2 HG02055.hp1 HG02572.hp1 HG02572.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0014	a0001c0001t0013 a0001c0001t0117 a0001c0003t0002 others(2): Show a0001c0001t0013 a0001c0001t0117 a0001c0003t0002 a0001c0006t0018 a0001c0014t0066	a0001c0001t0013g0128 a0001c0001t0117g0121 a0001c0003t0002g0146 others(2): Show a0001c0001t0013g0128 a0001c0001t0117g0121 a0001c0003t0002g0146 a0001c0006t0018g0081 a0001c0014t0066g0064	5	191	0.0262	32	c.117 others(53): Show c.1171+10533_1171+10534insTCCTATTATATATATATATATATA TATATCTC	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117794000	A A	ACACACAC others(25): Show ACACACACCAACATGCACACTCACACCAACATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19043.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0111 a0001c0001t0100 a0001c0001t0111	a0001c0001t0100g0148 a0001c0001t0111g0174 a0001c0001t0100g0148 a0001c0001t0111g0174	2	191	0.0105	32	c.473 others(51): Show c.473-32508_473-32477dupCATGTTGGTGTGAGTGTGCATGTTGG TGTGTG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
KYNU_chr2_142872664_143060833	142977372	G G	GAGATATA others(25): Show GAGATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0270 a0001c0001t0040g0270	1	160	0.0063	32	c.730 others(49): Show c.730-7711_730-7710insGATATATATATATATATATATATATATA TATA	KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
KYNU_chr2_142872664_143060833	142977372	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02273.hp1 HG03710.hp1 others(5): Show HG02027.hp2 HG02273.hp1 HG03710.hp1 HG04204.hp1 NA18522.hp2 NA18973.hp2 NA19062.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0079 a0001c0001t0153 a0002c0002t0003	a0001c0001t0001g0008 a0001c0001t0009g0172 a0001c0001t0014g0239 others(5): Show a0001c0001t0001g0008 a0001c0001t0009g0172 a0001c0001t0014g0239 a0001c0001t0015g0007 a0001c0001t0015g0058 a0001c0001t0079g0131 a0001c0001t0153g0111 a0002c0002t0003g0266	8	167	0.0479	32	c.730 others(49): Show c.730-7698_730-7697insATATATATATATATATATATATATATAT ATAT	KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
L1CAM_chrX_153856516_153891173	153859456	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	197	0.0051	32	c.32 others(43): Show c.3206_*3207insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding		2059		chrX	TogoVar
L1TD1_chr1_62189849_62217328	62216224	A A	AAAACAAA others(25): Show AAAACAAACACCTCTTTTCTTTTTATTGCTAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0236 a0001c0004t0005g0236	1	397	0.0025	32	c.48 others(43): Show c.4852_*4853insAAACAAACACCTCTTTTCTTTTTATTGCTAGT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding		3897		chr1	TogoVar
L3MBTL4_chr18_5949717_6419911	5960047	T T	TATATATA others(25): Show TATATATATATATACATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	92	0.0109	32	c.167 others(47): Show c.1677+46_1677+47insGTGTGTGTATATATATATGTATATATATAT AT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6099585	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03017.hp1 HG03486.hp1 others(1): Show HG01952.hp2 HG03017.hp1 HG03486.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0004t0006 a0002c0002t0001 a0001c0001t0002 a0001c0004t0006 a0002c0002t0001	a0001c0001t0002g0029 a0001c0001t0002g0062 a0001c0004t0006g0074 others(1): Show a0001c0001t0002g0029 a0001c0001t0002g0062 a0001c0004t0006g0074 a0002c0002t0001g0061	4	5	0.8000	32	c.120 others(51): Show c.1200-6058_1200-6057insATATATATATATATATATATATATAT ATATAT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6118208	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01981.hp2 NA19009.hp2 HG00558.hp2 HG01981.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0006 a0001c0001t0002g0044 a0002c0002t0001g0021 a0001c0001t0002g0006 a0001c0001t0002g0044 a0002c0002t0001g0021	3	46	0.0652	32	c.119 others(53): Show c.1199+19985_1199+19986insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
LAMA1_chr18_6936742_7122797	7021794	A A	AATAATAT others(25): Show AATAATATATAATATAATATATTATTATATAAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0041 a0041	a0041c0126 a0041c0126	a0041c0126t0002 a0041c0126t0002	a0041c0126t0002g0034 a0041c0126t0002g0034	1	263	0.0038	32	c.270 others(51): Show c.2701+1369_2701+1370insATTATATAATAATATATTATATTATA TATTAT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	19/62			chr18	TogoVar
LAMA1_chr18_6936742_7122797	7031680	C C	CAAATAAA others(25): Show CAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG03453.hp2 others(2): Show HG02109.hp2 HG03098.hp2 HG03453.hp2 HG03486.hp1 NA18906.hp2	a0059 a0091 a0098 others(2): Show a0059 a0091 a0098 a0099 a0108	a0059c0037 a0091c0043 a0098c0051 others(2): Show a0059c0037 a0091c0043 a0098c0051 a0099c0208 a0108c0153	a0059c0037t0006 a0091c0043t0002 a0098c0051t0001 others(2): Show a0059c0037t0006 a0091c0043t0002 a0098c0051t0001 a0099c0208t0003 a0108c0153t0001	a0059c0037t0006g0242 a0091c0043t0002g0114 a0098c0051t0001g0276 others(2): Show a0059c0037t0006g0242 a0091c0043t0002g0114 a0098c0051t0001g0276 a0099c0208t0003g0126 a0108c0153t0001g0241	5	164	0.0305	32	c.227 others(49): Show c.2274+385_2274+386insATTTATTTATTTATTTATTTATTTATTT ATTT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	16/62			chr18	TogoVar
LAMA2_chr6_128878138_129521566	129066038	G G	GTATGTCT others(25): Show GTATGTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0014 a0014	a0014c0010 a0014c0010	a0014c0010t0003 a0014c0010t0003	a0014c0010t0003g0054 a0014c0010t0003g0054	1	17	0.0588	32	c.396 others(49): Show c.396+6143_396+6144insATGTCTTTTTTTTTTTTTTTTTTTTTTT TTTT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	3/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129200274	G G	GTGTATAT others(25): Show GTGTATATATACGTGTACACATATACATGTGTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG02818.hp1 HG02895.hp2 HG02897.hp1 NA21309.hp1	a0002 a0003 a0026 a0002 a0003 a0026	a0002c0003 a0003c0018 a0026c0037 a0002c0003 a0003c0018 a0026c0037	a0002c0003t0003 a0003c0018t0001 a0026c0037t0001 a0002c0003t0003 a0003c0018t0001 a0026c0037t0001	a0002c0003t0003g0038 a0002c0003t0003g0039 a0003c0018t0001g0032 others(1): Show a0002c0003t0003g0038 a0002c0003t0003g0039 a0003c0018t0001g0032 a0026c0037t0001g0065	4	59	0.0678	32	c.178 others(51): Show c.1782+7422_1782+7423insGTATATATACGTGTACACATATACAT GTGTAT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129205478	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG04204.hp2 NA18979.hp1 HG00323.hp1 HG04204.hp2 NA18979.hp1	a0001 a0005 a0033 a0001 a0005 a0033	a0001c0067 a0005c0015 a0033c0013 a0001c0067 a0005c0015 a0033c0013	a0001c0067t0001 a0005c0015t0001 a0033c0013t0002 a0001c0067t0001 a0005c0015t0001 a0033c0013t0002	a0001c0067t0001g0070 a0005c0015t0001g0061 a0033c0013t0002g0031 a0001c0067t0001g0070 a0005c0015t0001g0061 a0033c0013t0002g0031	3	55	0.0545	32	c.178 others(53): Show c.1782+12641_1782+12642insTATATATATATATATATATATATA TATATATA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar

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