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
ANKRD11_chr16_89262630_89495561	89455022	G G	GTTCCTCA others(92): Show GTTCCTCAAGCTGCTCCCCTGGGTGCTTCTAGCATTCCTCAAGCTGCTTC CCTGGGTGCTTCTAGGGTTCCTCAAGCTGCTCCCCTGGGTGCTGTTAGGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0123 a0001c0006t0003g0123	1	308	0.0032	99	c.-14 others(120): Show c.-145+35222_-145+35223insGCCTAACAGCACCCAGGGGAGCAG CTTGAGGAACCCTAGAAGCACCCAGGGAAGCAGCTTGAGGAATGCTAGAA GCACCCAGGGGAGCAGCTTGAGGAA	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKUB1_chr3_149756100_149797554	149764542	T T	TCCCTTCC others(92): Show TCCCTTCCTTCCTTTCCCTTCCTTCCTTTCCCTTCCTTCCTTCCCTCCCT CCCTCCCTCTCTCCCTTCCTTCCATCCTTCCTTTCTTCCTTCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02109.hp2 HG02630.hp2 others(10): Show HG01169.hp1 HG02109.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp1 HG06807.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0003 a0001c0007 a0001c0014 others(3): Show a0001c0003 a0001c0007 a0001c0014 a0002c0005 a0004c0008 a0007c0023	a0001c0003t0005 a0001c0007t0004 a0001c0014t0004 others(3): Show a0001c0003t0005 a0001c0007t0004 a0001c0014t0004 a0002c0005t0007 a0004c0008t0004 a0007c0023t0004	a0001c0003t0005g0035 a0001c0003t0005g0305 a0001c0007t0004g0250 others(8): Show a0001c0003t0005g0035 a0001c0003t0005g0305 a0001c0007t0004g0250 a0001c0014t0004g0048 a0002c0005t0007g0039 a0004c0008t0004g0125 a0004c0008t0004g0145 a0004c0008t0004g0185 a0004c0008t0004g0209 a0004c0008t0004g0245 a0007c0023t0004g0132	13	232	0.0560	99	c.150 others(118): Show c.1505+2614_1505+2615insGAGGGAAGGAAGGAAGAAAGGAAGGA TGGAAGGAAGGGAGAGAGGGAGGGAGGGAGGGAAGGAAGGAAGGGAAAGG AAGGAAGGGAAAGGAAGGAAGGG	ANKUB1	ENSG00000206199.11	transcript	ENST00000446160.7	protein_coding	5/5			chr3	TogoVar
AP2A2_chr11_920870_1017240	980013	C C	CTGTCCTG others(92): Show CTGTCCTGGAGCGGTGACAGGCTGCCTGGTGCCGTGTCCTGGAGCGGTGA CAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	266	0.0038	99	c.604 others(116): Show c.604-1160_604-1159insTGGTGCCGTGTCCTGGAGCGGTGACAGG CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCC	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	980397	G G	GTGCCCGG others(92): Show GTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02258.hp1 HG02572.hp1 others(6): Show HG00642.hp2 HG02258.hp1 HG02572.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp2 HG02976.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0047 others(6): Show a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0001g0102	9	133	0.0677	99	c.604 others(114): Show c.604-736_604-735insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP3S2_chr15_89825599_89898994	89854666	T T	TGCCCGGC others(92): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0104 a0001c0001t0005g0104	1	304	0.0033	99	c.345 others(118): Show c.345+16808_345+16809insGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854666	T T	TGCCCGGC others(92): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	304	0.0033	99	c.345 others(118): Show c.345+16808_345+16809insGGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854676	G G	GCCGCCCC others(92): Show GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	310	0.0032	99	c.345 others(118): Show c.345+16700_345+16798dupGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGG	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854796	T T	TGGGGGGG others(92): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19079.hp1 NA18959.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	2	116	0.0172	99	c.345 others(118): Show c.345+16678_345+16679insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854796	T T	TGGGGGGG others(92): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01358.hp2 HG02258.hp2 others(19): Show HG00099.hp1 HG01358.hp2 HG02258.hp2 HG02886.hp2 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03831.hp2 HG04115.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18969.hp1 NA18973.hp2 NA19002.hp2 NA19009.hp2 NA19058.hp1 NA19091.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0035	a0001c0001t0003g0008 a0001c0001t0003g0096 a0001c0001t0003g0100 others(19): Show a0001c0001t0003g0008 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0107 a0001c0001t0003g0113 a0001c0001t0003g0116 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0005g0077 a0001c0001t0005g0082 a0001c0001t0007g0005 a0001c0001t0007g0108 a0001c0001t0015g0095 a0001c0001t0017g0020 a0001c0001t0017g0021 a0001c0001t0018g0089 a0001c0001t0018g0145 a0001c0001t0025g0022 a0001c0001t0027g0106 a0001c0001t0028g0141 a0001c0001t0035g0086	22	136	0.1618	99	c.345 others(118): Show c.345+16580_345+16678dupCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854895	G G	GGGGGGGG others(92): Show GGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18960.hp2 HG00642.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0024 a0001c0001t0008 a0001c0001t0024	a0001c0001t0008g0121 a0001c0001t0024g0109 a0001c0001t0008g0121 a0001c0001t0024g0109	2	283	0.0071	99	c.345 others(118): Show c.345+16579_345+16580insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854895	G G	GGGGGGGG others(92): Show GGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	282	0.0035	99	c.345 others(118): Show c.345+16579_345+16580insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854895	G G	GGGGGGGG others(92): Show GGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03927.hp2 HG00621.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0138 a0001c0001t0003g0097 a0001c0001t0003g0138	2	283	0.0071	99	c.345 others(118): Show c.345+16579_345+16580insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
ARFRP1_chr20_63693647_63712976	63693675	A A	ACCTCCAC others(92): Show ACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCACCACCTCCAC CACCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	155	0.0065	99	c.67 others(110): Show c.6767_*6768insAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGT GGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGG TGGAGGTGGTGGAGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4971		chr20	TogoVar
ARHGAP24_chr4_85470150_86007666	85487726	A A	ATTATATT others(92): Show ATTATATTATATAATATATATTTATATTATATATTATATAATATATATTT ATTATATATTATATAATATATATTTATTATATATTATATAAATATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	101	0.0099	99	c.-21 others(118): Show c.-21+12168_-21+12169insTATATTATATAATATATATTTATATT ATATATTATATAATATATATTTATTATATATTATATAATATATATTTATT ATATATTATATAAATATATATTT	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP28_chr18_6724716_6920716	6909301	T T	TTTTCTTT others(92): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	191	0.0052	99	c.209 others(116): Show c.2095+280_2095+281insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTT	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARHGAP6_chrX_11132544_11670920	11590862	A A	AGAAGAGA others(92): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAAAAGAAAAGAAAAGAAGGAAAGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	68	0.0147	99	c.588 others(118): Show c.588+73378_588+73379insCTTTCTTTCCTTCTTTCCTTCTTTTC TTTTCTTTTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTC	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	1/12			chrX	TogoVar
ARHGAP8_chr22_44747575_44867784	44800725	G G	GGCGCCCC others(92): Show GGCGCCCCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAG CTGTCCGTGTGTGGGGGCGCCCCTCCCCGCAGCTGTCCGTGTGTGGGGGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02698.hp2 HG03710.hp1 HG01257.hp2 HG02698.hp2 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0009 a0001c0010 a0003c0002 a0001c0009 a0001c0010 a0003c0002	a0001c0009t0001 a0001c0010t0001 a0003c0002t0002 a0001c0009t0001 a0001c0010t0001 a0003c0002t0002	a0001c0009t0001g0389 a0001c0010t0001g0244 a0003c0002t0002g0329 a0001c0009t0001g0389 a0001c0010t0001g0244 a0003c0002t0002g0329	3	321	0.0093	99	c.80- others(114): Show c.80-1352_80-1351insGCGCCCCTCCCCGCAGCTGTCCATGTGTGG GGGGCGCCCCTCCCCGCAGCTGTCCGTGTGTGGGGGCGCCCCTCCCCGCA GCTGTCCGTGTGTGGGGGC	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11			chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44800725	G G	GGCGCCCC others(92): Show GGCGCCCCTCCCCGCAGCTGTCCGTGTGTGGGGGCGCCCCTCCCCGCAGC TGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0341 a0001c0009t0001g0341	1	319	0.0031	99	c.80- others(114): Show c.80-1352_80-1351insGCGCCCCTCCCCGCAGCTGTCCGTGTGTGG GGGCGCCCCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCA GCTGTCCGTGTGTGGGGGC	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11			chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44800725	G G	GGCGCCCC others(92): Show GGCGCCCCTCCCCGCAGCTGTCCGTGTGTGGGGGGCGCCCCTCCCCGCAG CTGTCCGTGTGTGGGGGCGCCCCTCCCCGCAGCTGTCCGTGTGTGGGGGC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0123 a0003c0002t0002g0123	1	319	0.0031	99	c.80- others(114): Show c.80-1352_80-1351insGCGCCCCTCCCCGCAGCTGTCCGTGTGTGG GGGGCGCCCCTCCCCGCAGCTGTCCGTGTGTGGGGGCGCCCCTCCCCGCA GCTGTCCGTGTGTGGGGGC	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11			chr22	TogoVar
ARHGDIG_chr16_275591_288010	285931	C C	CCCCAACC others(92): Show CCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCC CAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0015 a0001c0001t0012g0015	1	385	0.0026	99	c.31 others(110): Show c.3117_*3118insCCCAACCCCAACACCAACCCCGCGGTTCTCCCAA CCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCGCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2922		chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1919870	C C	CTCTGTGG others(92): Show CTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCTGTTCTGTGGGTG ATGGAGCTGTTCTATGGGTGATGGAGCTGTTCTATGGGTGATGGAGCTGT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0127 a0002c0127	a0002c0127t0001 a0002c0127t0001	a0002c0127t0001g0013 a0002c0127t0001g0013	1	361	0.0028	99	c.214 others(118): Show c.2144-3048_2144-3047insGTGATGGAGCTGTTCTATGGGTGATG GAGCTGTTCTATGGGTGATGGAGCTGTTCTGTGGGTGATGAGCTGTTCTG TCAGTGATGGAGCTGTTCTGTGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARMH3_chr10_101840599_102061173	101928873	A A	AGCACCCA others(92): Show AGCACCCACCACCATGCCCGGCTAATTTTCGTATTTTTAGTAGAGACAGG GTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	260	0.0038	99	c.178 others(120): Show c.1781+10891_1781+10989dupGATCACCTGAGGTCAGGAGTTTGA GACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACGAAA ATTAGCCGGGCATGGTGGTGGGTGC	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	23/25			chr10	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(92): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	288	0.0035	99	c.42 others(110): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(92): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	288	0.0035	99	c.42 others(110): Show c.4205_*4206insTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ATP10B_chr5_160558120_160857211	160652889	T T	TTATATAA others(92): Show TTATATAATATATTATATATACATGTATATATAATATATATACATGTATA TATAATATATTATATATACATGTATATATAATATATTATATATACATGTA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0086 a0002c0004t0008g0086	1	88	0.0114	99	c.676 others(116): Show c.676-3634_676-3633insTACATGTATATATAATATATTATATATA CATGTATATATAATATATTATATATACATGTATATATATTATATATACAT GTATATATAATATATTATATA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160652889	T T	TTATATAA others(92): Show TTATATAATATATTATATATACATGTATATATAATATATTATATATACAT GTATATATATTATATATACATGTATATATAATATATTATATATACATGTA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0017 a0001c0002t0005g0017	1	88	0.0114	99	c.676 others(116): Show c.676-3634_676-3633insTACATGTATATATAATATATTATATATA CATGTATATATAATATATATACATGTATATATAATATATTATATATACAT GTATATATAATATATTATATA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653696	A A	ATTAATAT others(92): Show ATTAATATACGTATATACATATATAAATATGTTGTATATACGTATATACA TATATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG00738.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0014 a0001c0001t0002 a0001c0005t0014	a0001c0001t0002g0075 a0001c0005t0014g0022 a0001c0001t0002g0075 a0001c0005t0014g0022	2	158	0.0127	99	c.676 others(116): Show c.676-4441_676-4440insCAACATATATTTATATATGTATATACGT ATATACAACATATATTTATATATGTATATACGTATATACAACATATTTAT ATATGTATATACGTATATTAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160654076	C C	CATATATA others(92): Show CATATATAAATATATGTTGTATATACGTATATACATATATAAATATATGT TGTATATACGTATATACATATAAATATATGTTGTATATACGTATATACAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0046 a0017c0022t0046	a0017c0022t0046g0056 a0017c0022t0046g0056	1	214	0.0047	99	c.676 others(116): Show c.676-4821_676-4820insATGTATATACGTATATACAACATATATT TATATGTATATACGTATATACAACATATATTTATATATGTATATACGTAT ATACAACATATATTTATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP1A3_chr19_41961582_41999230	41990078	T T	TTTTTCCG others(92): Show TTTTTCCGTCTTTCGGTCTGTCTCTCTCTGTCATTGTGTCTCTATCTTCA TCTCTCAAGCTGTCTCCTCTGGGATGCTCACATCTCTCCCTACCTGTCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	280	0.0036	99	c.7-1 others(112): Show c.7-1615_7-1517dupGAGACAGGTAGGGAGAGATGTGAGCATCCCAG AGGAGACAGCTTGAGAGATGAAGATAGAGACACAATGACAGAGAGAGACA GACCGAAAGACGGAAAA	ATP1A3	ENSG00000105409.19	transcript	ENST00000648268.1	protein_coding	1/22			chr19	TogoVar
AVL9_chr7_32490489_32593726	32579574	T T	TATTATAT others(92): Show TATTATATATATAATATATTATATTATATATTATGTATATAATATATTAT ATTATATATTATGTATATAATATATTATATTATATATTATGTATATTATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0024	a0002c0003t0024g0148 a0002c0003t0024g0148	1	306	0.0033	99	c.168 others(116): Show c.1689-645_1689-644insATTATATATATAATATATTATATTATAT ATTATGTATATAATATATTATATTATATATTATGTATATAATATATTATA TTATATATTATGTATATTATA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15			chr7	TogoVar
AXIN1_chr16_282440_357723	285931	C C	CCCCAACC others(92): Show CCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCC CAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0235 a0001c0003t0003g0235	1	322	0.0031	99	c.21 others(110): Show c.2190_*2191insAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGG GTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTT GGTGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1508		chr16	TogoVar
AZU1_chr19_822837_837018	829178	G G	GTCAGATG others(92): Show GTCAGATGAGGGAGACCCAGATAAGGGAATGGGGTCAGATGGAGGAGGTG CAGAGAAGGGAAGGGGGTCAGATGGAGGAGGCACAGAGAAGGGAAGGGGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	164	0.0061	99	c.216 others(114): Show c.216-377_216-376insAGGGAGACCCAGATAAGGGAATGGGGTCAG ATGGAGGAGGTGCAGAGAAGGGAAGGGGGTCAGATGGAGGAGGCACAGAG AAGGGAAGGGGCTCAGATG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	829178	G G	GTCAGATG others(92): Show GTCAGATGAGGGAGGCCCAGATAAGGGAATGGGGTCAGATGGAGGAGGTG CAGAGAAGGGAAGGGGATCAGATGGAGGAGGCACAGAGAAGGGAAGGGGC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	164	0.0061	99	c.216 others(114): Show c.216-377_216-376insAGGGAGGCCCAGATAAGGGAATGGGGTCAG ATGGAGGAGGTGCAGAGAAGGGAAGGGGATCAGATGGAGGAGGCACAGAG AAGGGAAGGGGCTCAGATG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	829178	G G	GTCAGATG others(92): Show GTCAGATGAGGGAGGCCCAGATAAGGGAATGGGGTCAGATGGAGGAGGTG CAGAGAAGGGAAGGGGGTCAGATGGAGGAGGCACAGAGAAGGGAAGGGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(214): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009	a0001c0002 a0001c0003 a0001c0004 others(8): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0002c0005 a0003c0006 a0004c0013 a0006c0012 a0007c0017 a0009c0016	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 a0001c0009t0001 a0002c0005t0001 a0003c0006t0001 a0004c0013t0001 a0006c0012t0001 a0007c0017t0001 a0009c0016t0005	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(34): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0002g0004 a0001c0003t0001g0002 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0024 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0056 a0001c0004t0001g0002 a0001c0004t0001g0004 a0001c0004t0001g0006 a0001c0004t0001g0009 a0001c0004t0001g0018 a0001c0008t0001g0003 a0001c0009t0001g0004 a0002c0005t0001g0012 a0003c0006t0001g0014 a0004c0013t0001g0008 a0006c0012t0001g0002 a0007c0017t0001g0002 a0009c0016t0005g0029	217	380	0.5711	99	c.216 others(114): Show c.216-377_216-376insAGGGAGGCCCAGATAAGGGAATGGGGTCAG ATGGAGGAGGTGCAGAGAAGGGAAGGGGGTCAGATGGAGGAGGCACAGAG AAGGGAAGGGGCTCAGATG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	829232	T T	TAAGGGAA others(92): Show TAAGGGAAGGGGCTCAGATGGAGGAGGTGCAGAGAAGGGGAGGGGGTCAA ATGGAGGAGGCTCAGAAAAGGGAAGGGGGTCAGATAGAGGAGGCGCAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG03195.hp2 others(1): Show HG02572.hp2 HG02615.hp1 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0027 a0001c0003t0001g0030 a0001c0004t0001g0018 a0001c0003t0001g0027 a0001c0003t0001g0030 a0001c0004t0001g0018	4	167	0.0240	99	c.216 others(114): Show c.216-282_216-281insAATGGAGGAGGCTCAGAAAAGGGAAGGGGG TCAGATAGAGGAGGCGCAGAGAAGGGAAGGGGCTCAGATGGAGGAGGTGC AGAGAAGGGGAGGGGGTCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	829232	T T	TAAGGGAA others(92): Show TAAGGGAAGGGGCTCAGATGGAGGAGGTGCAGAGAAGGGGAGGGGGTCAG ATGGAGGAGGCTCAGAAAAGGGAAGGGGGTCAGATAGAGGAGGCGCAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(103): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp1 HG01258.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG04184.hp1 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19010.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19065.hp1 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 others(1): Show a0001c0002 a0001c0004 a0001c0008 a0001c0009	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0008t0001 a0001c0009t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 others(8): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0002g0004 a0001c0004t0001g0004 a0001c0008t0001g0003 a0001c0009t0001g0004	106	269	0.3941	99	c.216 others(114): Show c.216-265_216-264insAAAGGGAAGGGGGTCAGATAGAGGAGGCGC AGAGAAGGGAAGGGGCTCAGATGGAGGAGGTGCAGAGAAGGGGAGGGGGT CAGATGGAGGAGGCTCAGA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
AZU1_chr19_822837_837018	829232	T T	TAAGGGAA others(92): Show TAAGGGAAGGGGCTCAGATGGAGGAGGTGCAGAGAAGGGGAGGGGGTCAG ATGGAGGAGGCTCAGAGAAGGGAAGGGGGTCAGATAGAGGAGGCGCAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00673.hp2 others(112): Show HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18966.hp1 NA18980.hp1 NA18999.hp1 NA19000.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19082.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0003c0006 a0004c0013 a0006c0012 a0007c0017	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0002c0005t0001 a0003c0006t0001 a0004c0013t0001 a0006c0012t0001 a0007c0017t0001	a0001c0002t0001g0002 a0001c0002t0001g0032 a0001c0002t0001g0033 others(23): Show a0001c0002t0001g0002 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0003t0001g0002 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0020 a0001c0003t0001g0024 a0001c0003t0001g0031 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0056 a0001c0004t0001g0002 a0001c0004t0001g0006 a0001c0004t0001g0009 a0002c0005t0001g0012 a0002c0005t0001g0013 a0002c0005t0001g0035 a0003c0006t0001g0014 a0004c0013t0001g0008 a0006c0012t0001g0002 a0007c0017t0001g0002	115	278	0.4137	99	c.216 others(114): Show c.216-254_216-253insGGTCAGATAGAGGAGGCGCAGAGAAGGGAA GGGGCTCAGATGGAGGAGGTGCAGAGAAGGGGAGGGGGTCAGATGGAGGA GGCTCAGAGAAGGGAAGGG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
BDH1_chr3_197504783_197560968	197513395	A A	ACTCAGCC others(92): Show ACTCAGCCCATCCAGGTGTGCCCCCGGGAGGGCACTCAGCCCATCCAGGT GTGCCCCCGGGAGGGCACTCAGCCCATCCAGGTGTGCCCCCGGGAGGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01256.hp2 HG00733.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0051 a0001c0001t0020 a0001c0001t0051	a0001c0001t0020g0052 a0001c0001t0051g0051 a0001c0001t0020g0052 a0001c0001t0051g0051	2	296	0.0068	99	c.562 others(114): Show c.562+868_562+869insGGCCCTCCCGGGGGCACACCTGGATGGGCT GAGTGCCCTCCCGGGGGCACACCTGGATGGGCTGAGTGCCCTCCCGGGGG CACACCTGGATGGGCTGAG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	7/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197513428	C C	CCTCAGCC others(92): Show CCTCAGCCCATCCAGGTGTGCCCCCGGGAGGGCACTCAGCCCATCCAGGT GTGCCCCCGGGAGGGCCCTCAGCCCATCCAGGTGTGCCCCCGGGAGGGCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp2 others(15): Show HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01256.hp1 HG01258.hp2 HG02109.hp1 HG02559.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03579.hp1 HG03669.hp2 HG06807.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011	a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 others(11): Show a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0048 a0001c0002t0011 a0001c0002t0018 a0001c0002t0031 a0001c0002t0043 a0001c0002t0047 a0001c0003t0014 a0001c0003t0017 a0001c0003t0019 a0001c0003t0032 a0001c0011t0041	a0001c0001t0014g0211 a0001c0001t0018g0212 a0001c0001t0019g0213 others(13): Show a0001c0001t0014g0211 a0001c0001t0018g0212 a0001c0001t0019g0213 a0001c0001t0048g0205 a0001c0002t0011g0029 a0001c0002t0011g0262 a0001c0002t0018g0202 a0001c0002t0031g0038 a0001c0002t0043g0062 a0001c0002t0047g0263 a0001c0003t0014g0010 a0001c0003t0017g0086 a0001c0003t0017g0089 a0001c0003t0019g0087 a0001c0003t0032g0045 a0001c0011t0041g0112	18	306	0.0588	99	c.562 others(114): Show c.562+835_562+836insTGCCCTCCCGGGGGCACACCTGGATGGGCT GAGGGCCCTCCCGGGGGCACACCTGGATGGGCTGAGTGCCCTCCCGGGGG CACACCTGGATGGGCTGAG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	7/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197513428	C C	CCTCAGCC others(92): Show CCTCAGCCCATCCAGGTGTGCCCCCGGGAGGGCCCTCAGCCCATCCAGGT GTGCCCCCGGGAGGGCCCTCAGCCCATCCAGGTGTGCCCCCGGGAGGGCA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0034 a0001c0001t0030g0034	1	289	0.0035	99	c.562 others(114): Show c.562+835_562+836insTGCCCTCCCGGGGGCACACCTGGATGGGCT GAGGGCCCTCCCGGGGGCACACCTGGATGGGCTGAGGGCCCTCCCGGGGG CACACCTGGATGGGCTGAG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	7/7			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425953	G G	GGGGGAAG others(92): Show GGGGGAAGTGGAGGGGAGGGGGAGGGGAGGGGAGGGAGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp2 HG02976.hp1 others(5): Show HG02109.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0269	8	191	0.0419	99	c.490 others(118): Show c.490-21359_490-21358insAGTGGAGGGGAGGGGGAGGGGAGGGG AGGGAGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BMPR2_chr2_202371327_202572749	202384569	T T	TTTCTTTC others(92): Show TTTCTTTCTTTCTTTCTTTCTTCTTTCTTTTCTTTCTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0156 a0001c0001t0005g0156	1	12	0.0833	99	c.76+ others(114): Show c.76+7021_76+7022insCTTTCTTTCTTTCTTTCTTCTTTCTTTTCT TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202535032	T T	TGGCTGAC others(92): Show TGGCTGACCCCCCCCACCTCCCTCCCGGACGGGTCGGCTGGCCGGGCGGG TGGCTGACCCCCCCACCTCCCTCCCGGACAGGTCGGCTGGCCTGGCTGGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	222	0.0045	99	c.127 others(118): Show c.1276+2313_1276+2314insCACCTCCCTCCCGGACGGGTCGGCTG GCCGGGCGGGTGGCTGACCCCCCCACCTCCCTCCCGGACAGGTCGGCTGG CCTGGCTGGGGGCTGACCCCCCC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202535064	T T	TCGGCTGG others(92): Show TCGGCTGGCCGGGCGGGTGGCTGACCCCCCCACCTCCCTCCCGGACAGGT CGGCTGGCCTGGCTGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	219	0.0046	99	c.127 others(118): Show c.1276+2341_1276+2342insGGGCGGGTGGCTGACCCCCCCACCTC CCTCCCGGACAGGTCGGCTGGCCTGGCTGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BPI_chr20_38299156_38342505	38321039	G G	GGATGAAT others(92): Show GGATGAATGGATGGATGGATGGATAAGTGGGTGGATGGGTGGGTGGATGA ATGAATGGGTGGGTGGGTAGATGGGTGGGTGGGTAGGTGGATGGGTGAGT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0057	1	424	0.0024	99	c.756 others(114): Show c.756+765_756+766insGATGAATGGATGGATGGATGGATAAGTGGG TGGATGGGTGGGTGGATGAATGAATGGGTGGGTGGGTAGATGGGTGGGTG GGTAGGTGGATGGGTGAGT	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	7/14			chr20	TogoVar
BSG_chr19_567596_588493	570679	G G	GGGTGGAA others(92): Show GGGTGGAAAGGGCGGAGGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGGGA GGGGGCGGAGGGGTGGGTGGGGGAGGGGTGGAGGGGTGGGTGGAAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03225.hp2 HG03098.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	280	0.0071	99	c.-19 others(110): Show c.-1956_-1955insGGTGGAAAGGGCGGAGGGGTGGGTGGGGGAGGGG CGGAGGGGTGGGGGAGGGGGCGGAGGGGTGGGTGGGGGAGGGGTGGAGGG GTGGGTGGAAGGGGC	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1916		chr19	TogoVar
BSN_chr3_49549477_49676549	49605580	T T	TTATATAT others(92): Show TTATATATATTTATATATAATATATATTATATATTATATATATTTATATT ATTATATTTTATATTATTTATATATATTTATATATAATAATATTATTATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0124 a0001c0001t0011g0124	1	84	0.0119	99	c.225 others(118): Show c.225-19388_225-19387insATTTATATATAATATATATTATATAT TATATATATTTATATTATTATATTTTATATTATTTATATATATTTATATA TAATAATATTATTATATATATAT	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTN1A1_chr6_26495303_26515425	26514199	T T	TTATATAT others(92): Show TTATATATATATACACACACATATATAATATATGTGCACATATATATATT ATATATATATTATATATATATTATATATATATATATATATATATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	179	0.0056	99	c.50 others(110): Show c.5025_*5026insTATATATATATACACACACATATATAATATATGT GCACATATATATATTATATATATATTATATATATATTATATATATATATA TATATATATATTATA	BTN1A1	ENSG00000124557.14	transcript	ENST00000684113.1	protein_coding		3775		chr6	TogoVar
C12orf40_chr12_39621183_39726914	39714094	C C	CATGTATA others(92): Show CATGTATATACGTATGTATACGTGTATATGTATATATGTACATACGTATA TATGTATATACGTATGTATCGTGTATATGTATATATGTACATACGTATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01981.hp2 HG01346.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0050 a0001c0001t0001g0062	2	139	0.0144	99	c.141 others(118): Show c.1412-2602_1412-2601insGTATGTATCGTGTATATGTATATATG TACATACGTATATATGTATATACGTATGTATACGTGTATATGTATATATG TACATACGTATATATGTATATAC	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C1RL_chr12_7089554_7114214	7101128	T T	TCTTTCCC others(92): Show TCTTTCCCTCCCTCCCTCCTTCCTTTCCTTCCTTCCCTCCCTCCCTCCTT CCTTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp2 HG02895.hp2 HG03139.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0034 a0004c0007t0001g0034	2	3	0.6667	99	c.490 others(114): Show c.490+769_490+770insGAAGGAAAGAAGGAAGGAGGGAGGGAGGGA GGGAAGGAAGGAAGGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAAGGA AGGAGGGAGGGAGGGAAAG	C1RL	ENSG00000139178.12	transcript	ENST00000266542.9	protein_coding	3/5			chr12	TogoVar

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