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
MICAL3_chr22_17782649_18029561	17877207	T T	TGGAGGTG others(218): Show TGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAG GTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAG GGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGG TTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTGAG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0088 a0001c0015t0003g0088	1	274	0.0037	225	c.224 others(244): Show c.2242-5185_2242-5184insCTCACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAA CCTCCCTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCATAACCTCC CTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAAC CTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877243	G G	GGGAGGTT others(218): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTATGGAGGTTAGG GAGGTTAGGGAGGTTATGGAGGTTAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	274	0.0037	225	c.224 others(244): Show c.2242-5221_2242-5220insCTAACCTCCATAACCTCCCTAACCTC CCTAACCTCCATAACCTCCATAACCTCCATAACTTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877342	G G	GGGAGGTT others(218): Show GGGAGGTTAGGGAGGTTATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAG GTTATGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAGTTAT GGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATG GCAGTTATGGAGGTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20129.hp2 HG02451.hp1 NA20129.hp2	a0001 a0024 a0001 a0024	a0001c0002 a0024c0036 a0001c0002 a0024c0036	a0001c0002t0002 a0024c0036t0002 a0001c0002t0002 a0024c0036t0002	a0001c0002t0002g0262 a0024c0036t0002g0202 a0001c0002t0002g0262 a0024c0036t0002g0202	2	274	0.0073	225	c.224 others(244): Show c.2242-5320_2242-5319insATAATCTCCCTAACCTCCATAACTGC CATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACCTCC ATAACTTCCCTAACCTCCATAACCTCCGTAACCTCCCTAACCTTCATAAC CTCCCTAACCTCCATAACTTCTCTAACCTCCATAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(218): Show GGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAAGTTATGGAGGTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0062 a0003c0004t0001g0062	1	274	0.0037	225	c.224 others(244): Show c.2242-5347_2242-5346insATAATCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAATCTCC CTAACCTCCATAACCTCCCTCACCTCCATAATCTCCCTAACCTCCATAAC CTCCCTCACCTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(218): Show GGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGATTATGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0008 a0001c0029t0008	a0001c0029t0008g0022 a0001c0029t0008g0022	1	274	0.0037	225	c.224 others(244): Show c.2242-5347_2242-5346insATAACCTCCCTAACCTCCATAATCTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAA CCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCC ATAACTTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(218): Show GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAT GGAGGTTAGGGAAGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTGAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0237 a0001c0029t0002g0237	1	274	0.0037	225	c.224 others(244): Show c.2242-5347_2242-5346insATAATCTCCCTAACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCATAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAACTTCCCTAACCTCC ATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAAC CTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877403	T T	TATGGAGG others(218): Show TATGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTA GGGAAGTTATGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0206 a0002c0003t0004g0206	1	274	0.0037	225	c.224 others(244): Show c.2242-5381_2242-5380insCACCTCCATAACCTCCATAACTTCCC TAACCTCCATAACCTCCCTCACCTCCATAATCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCT CCATAACCTCCCTCACCTCCATAACCTCCATAACCTCCCTCACCTCCAT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877445	G G	GGTTATGG others(218): Show GGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTA TGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTCTGGAGGTTAGGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGG TTATGGAGGTTATGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0008 a0008	a0008c0027 a0008c0027	a0008c0027t0002 a0008c0027t0002	a0008c0027t0002g0074 a0008c0027t0002g0074	1	274	0.0037	225	c.224 others(244): Show c.2242-5423_2242-5422insTTCCCTAACCTCCATAACCTCCATAA CCTCCCTCACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCC CTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAAC CTCCCTAACCTCCAGAATCTCCCTAACCTCCATAACCTCCCTCACCTCCA TAATCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877513	G G	GGGAGGTT others(218): Show GGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTGAGGGAGG TTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0059 a0009c0014t0001g0086 a0009c0014t0001g0059 a0009c0014t0001g0086	2	274	0.0073	225	c.224 others(244): Show c.2242-5491_2242-5490insATAACCTCCCTCACCTCCATAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAA CCTCCCTCACCTCCATAACCTCCATAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(218): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18955.hp1 NA18977.hp1 HG03704.hp1 NA18955.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0082	3	181	0.0166	225	c.107 others(244): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(218): Show CTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCCATTTCCTTTCCTTC CTTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0138 a0002c0003t0002g0138	1	181	0.0055	225	c.107 others(244): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTCCCTTTCCT TTCCTTTCCATTTCCTTTCCTTCCTTTCCTTTCCTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTCTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MIER2_chr19_300573_349796	310557	G G	GGCCCGGA others(218): Show GGCCCGGAGCTATAGAAACACGGCCCGGAGCTGCAGAAACAGGCCGGGAG CTGTAGAAACATGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACA CAGCCCGGAGCTGTAGAAACACGGCCGGGAGCTGCAGAAACACAGCCGGG AGCTATAGAAAACACGGCCCGGAGCTGTAGAAACACGGCCCGGAGCTATA GAAACGGCCCAGAGTCCAGAAACACA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	384	0.0026	225	c.984 others(242): Show c.984+1287_984+1288insTGTGTTTCTGGACTCTGGGCCGTTTCTA TAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTTTTCTATAGCTCC CGGCTGTGTTTCTGCAGCTCCCGGCCGTGTTTCTACAGCTCCGGGCTGTG TTTCTGGACTCTGGGCCGTTTCTATAGCTCCGGGCCATGTTTCTACAGCT CCCGGCCTGTTTCTGCAGCTCCGGGCCGTGTTTCTATAGCTCCGGGC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13			chr19	TogoVar
MLPH_chr2_237482251_237560322	237544315	T T	TGGGGGGA others(218): Show TGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAG TGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGT GAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAGT GAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTG GTGAGTGGGTGCACGGTAGTGAGTCG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0153 a0002c0002t0002g0153	1	286	0.0035	225	c.153 others(244): Show c.1539+1660_1539+1661insGGACAGTGGCAAGTGGGCACAGTGGT GAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGT GGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMACHC_chr1_45495300_45518382	45497707	G G	GGGGGGGG others(218): Show GGGGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCCGTCAGGGAGGGAGGT GGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCA GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCAGTCCGGGAGGGAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	386	0.0026	225	c.-26 others(236): Show c.-2626_-2625insGGGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCC GTCAGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCA TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGT	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2592		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497762	T T	TGTCAGCC others(218): Show TGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGC CGCCCCGTCTGGGAGGGAGGTGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	386	0.0026	225	c.-25 others(236): Show c.-2571_-2570insGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCC CCCCGCCAGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2537		chr1	TogoVar
MMS19_chr10_97453324_97503422	97484753	T T	TAAAAATA others(218): Show TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	372	0.0027	225	c.113 others(240): Show c.113-603_113-602insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT	MMS19	ENSG00000155229.21	transcript	ENST00000438925.7	protein_coding	1/30			chr10	TogoVar
MROH2A_chr2_233773330_233838418	233787914	A A	ATATATAC others(218): Show ATATATACATATATATTATATATACATATATATTATATATACATATATAT TATATATACATATATATTATATATACATATATATTATATATACATATATA TTATATATATACATATATATTATATATATACATATATATTATATATACAT ATATATTATATATATACATATATATTATATATACATATATATTATATATA CATATATATTATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0035 a0035	a0035c0112 a0035c0112	a0035c0112t0002 a0035c0112t0002	a0035c0112t0002g0020 a0035c0112t0002g0020	1	378	0.0027	225	c.277 others(242): Show c.277-1577_277-1576insCATATATATTATATATACATATATATTA TATATACATATATATTATATATACATATATATTATATATACATATATATT ATATATACATATATATTATATATATACATATATATTATATATATACATAT ATATTATATATACATATATATTATATATATACATATATATTATATATACA TATATATTATATATACATATATATTATATATACATATATATTATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787914	A A	ATATATAC others(218): Show ATATATACATATATATTATATATACATATATATTATATATACATATATAT TATATATACATATATATTATATATATACATATATATTATATATACATATA TATTATATATACATATATATTATATATATACATATATATTATATATACAT ATATATTATATATATACATATATATTATATATACATATATATTATATATA CATATATATTATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0114 a0114	a0114c0131 a0114c0131	a0114c0131t0002 a0114c0131t0002	a0114c0131t0002g0028 a0114c0131t0002g0028	1	378	0.0027	225	c.277 others(242): Show c.277-1577_277-1576insCATATATATTATATATACATATATATTA TATATACATATATATTATATATACATATATATTATATATATACATATATA TTATATATACATATATATTATATATACATATATATTATATATATACATAT ATATTATATATACATATATATTATATATATACATATATATTATATATACA TATATATTATATATACATATATATTATATATACATATATATTATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787916	A A	ATATACAT others(218): Show ATATACATATATATTATATATATACATATATATTATATATACATATATAT TATATATACATATATATTATATATATACATATATATTATATATACATATA TATTATATATATACATATATATTATATATACATATATATTATATATACAT ATATATTATATATATACATATATATTATATATACATATATATTATATATA CATATATATTATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0061 a0061	a0061c0193 a0061c0193	a0061c0193t0001 a0061c0193t0001	a0061c0193t0001g0059 a0061c0193t0001g0059	1	378	0.0027	225	c.277 others(242): Show c.277-1577_277-1576insCATATATATTATATATATACATATATAT TATATATACATATATATTATATATACATATATATTATATATATACATATA TATTATATATACATATATATTATATATATACATATATATTATATATACAT ATATATTATATATACATATATATTATATATATACATATATATTATATATA CATATATATTATATATACATATATATTATATATACATATATATTATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787925	T T	TATATATT others(218): Show TATATATTATATATACATATATATTATATATACATATATATTATATATAT ACATATATATTATATATACATATATATTATATATACATATATATTATATA TATACATATATATTATATATACATATATATTATATATACATATATATTAT ATATATACATATATATTATATATACATATATATTATATATACATATATAT TATATATACATATATATTATATATAC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0028 a0028	a0028c0048 a0028c0048	a0028c0048t0001 a0028c0048t0001	a0028c0048t0001g0052 a0028c0048t0001g0052	1	378	0.0027	225	c.277 others(242): Show c.277-1534_277-1533insATTATATATATACATATATATTATATAT ACATATATATTATATATACATATATATTATATATATACATATATATTATA TATACATATATATTATATATACATATATATTATATATATACATATATATT ATATATACATATATATTATATATACATATATATTATATATACATATATAT TATATATACATATATTATATATACATATATATTATATATACATATAT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195775740	C C	CCATACCT others(218): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACATCCATACCTTC CACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACGGCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0103 a0103	a0103c0121 a0103c0121	a0103c0121t0002 a0103c0121t0002	a0103c0121t0002g0140 a0103c0121t0002g0140	1	249	0.0040	225	c.129 others(246): Show c.12944-1436_12944-1435insACTGTGGAAGGTATGGCCGTGGAA GGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAA GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGATGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT G	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195775844	C C	CCCATACC others(218): Show CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTT CCACACCCATACCTTCCACAGTCATACCTTCCACGGCCATACCTTCCACA GTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0088 a0088	a0088c0180 a0088c0180	a0088c0180t0003 a0088c0180t0003	a0088c0180t0003g0204 a0088c0180t0003g0204	1	249	0.0040	225	c.129 others(246): Show c.12944-1540_12944-1539insATGTGGAAGGTATGGGTGTGGAAG GTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATG ACTGTGGAAGGTATGGCCGTGGAAGGTATGACTGTGGAAGGTATGGGTGT GGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAG GTATGGATGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATG G	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776460	C C	CCTTACCT others(218): Show CCTTACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACGGTCATA CCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTC CGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCAC CCATACCTTCCACACCCTTACCTTCCACACCCTTACCTTCCACACCCATA CCTTCCACGGCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0057 a0057	a0057c0148 a0057c0148	a0057c0148t0008 a0057c0148t0008	a0057c0148t0008g0198 a0057c0148t0008g0198	1	249	0.0040	225	c.129 others(246): Show c.12943+1842_12943+1843insACTGTGGAAGGTATGGCCGTGGAA GGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGTGTGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTG CGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAA GGTATGACCGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTAA G	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776819	G G	GTCATACC others(218): Show GTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTT CCACACCCATACCTTCCGCACCCATACCTTCCACAGTCATACCTTCCACA CCCATACCTTCCGCACCCTTACCTTCCGCACCCATACCTTCCACACCCAT ACCTTCCGCACCCATACCTTCCGCAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0044 a0044	a0044c0153 a0044c0153	a0044c0153t0001 a0044c0153t0001	a0044c0153t0001g0045 a0044c0153t0001g0045	1	249	0.0040	225	c.129 others(246): Show c.12943+1483_12943+1484insGTGCGGAAGGTATGGGTGCGGAAG GTATGGGTGTGGAAGGTATGGGTGCGGAAGGTAAGGGTGCGGAAGGTATG GGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGT GGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAG GTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATG A	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777585	C C	CCATACCT others(218): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACATCCATACCTTCCACGGCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATA CCTTCCACGGCCATACCTTCCACGGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02155.hp2 HG02451.hp1 others(4): Show HG01256.hp1 HG02155.hp2 HG02451.hp1 HG03017.hp1 HG03704.hp1 NA19064.hp2 NA19074.hp1	a0007 a0016 a0057 others(2): Show a0007 a0016 a0057 a0085 a0090	a0007c0007 a0016c0024 a0057c0148 others(2): Show a0007c0007 a0016c0024 a0057c0148 a0085c0188 a0090c0186	a0007c0007t0003 a0016c0024t0003 a0057c0148t0008 others(2): Show a0007c0007t0003 a0016c0024t0003 a0057c0148t0008 a0085c0188t0003 a0090c0186t0003	a0007c0007t0003g0154 a0007c0007t0003g0209 a0016c0024t0003g0219 others(4): Show a0007c0007t0003g0154 a0007c0007t0003g0209 a0016c0024t0003g0219 a0016c0024t0003g0221 a0057c0148t0008g0198 a0085c0188t0003g0218 a0090c0186t0003g0220	7	249	0.0281	225	c.129 others(244): Show c.12943+717_12943+718insACCGTGGAAGGTATGGCCGTGGAAGG TATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGG GTGTGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGGGTGTG GAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGG TATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777585	C C	CCATACCT others(218): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTC CACACCCATACCTTCCACATCCATACCTTCCACGGCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATA CCTTCCACGGCCATACCTTCCACGGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19043.hp1 HG03041.hp2 NA19043.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0004 a0014c0022t0004	a0014c0022t0004g0245 a0014c0022t0004g0246 a0014c0022t0004g0245 a0014c0022t0004g0246	2	249	0.0080	225	c.129 others(244): Show c.12943+717_12943+718insACCGTGGAAGGTATGGCCGTGGAAGG TATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGG GTGTGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGGGTGTG GAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGG TATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110681050	T T	TAATATAT others(218): Show TAATATATATTATATAATATATTATATATTATATTATATATATAATATAT ATAATATTATATATATTAATATTATATATATTATATAATATTATATATAT TATATAATATATATTATATATAATATATATTATATTATATATTATATTAT ATATATAATATATATAATATAATATATAATATAATATATATTATATATAA TATATATTATATTATATATTATATTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0138 a0002c0004t0013g0138	1	326	0.0031	225	c.80- others(240): Show c.80-1624_80-1623insAATATATATTATATAATATATTATATATTA TATTATATATATAATATATATAATATTATATATATTAATATTATATATAT TATATAATATTATATATATTATATAATATATATTATATATAATATATATT ATATTATATATTATATTATATATATAATATATATAATATAATATATAATA TAATATATATTATATATAATATATATTATATTATATATTATATTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14			chr9	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(218): Show TTTATAATATATAATTTATAATTATAAATTATAAATTATAATATATAATT TATAATTATAAATTTATAATATATAATTTATATATTATAATTTATAATAT ATAATTTATAATTATAAGTTATATATTATAATTTTTAATTATAAGTTATA ATATATAACTTATAATTATAAGTTATAATATATAACTTATAATTATAAGT TATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0191 a0003c0003t0001g0191	1	284	0.0035	225	c.710 others(242): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAATTATAAGTTATATATTATAACTTATAATTATAAGTTATATATTA TAACTTATAATTAAAAATTATAATATATAACTTATAATTATAAATTATAT ATTATAAATTATAATATATAAATTATATATTATAAATTTATAATTATAAA TTATATATTATAATTTATAATTTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(218): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATAATATATATAATATATATTATATATATAATATATAATATA TATAATATATATTATATATATAATATATAATATATATTATATATATAATA TATATTATATATATAATATATATTATATATAATATATATTATATATATAA TATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0295 a0001c0003t0001g0295	1	334	0.0030	225	c.547 others(242): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATATAATATATATTATATATTATATATATAATATATATTATATA TATTATATATTATATATATAATATATATTATATATATTATATATTATATA TATAATATATATTATATATATTATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(218): Show TAATATATATTATATATATAATATATAATATATATTATATATATTATATA TATAATATATAATATATATTATATATATAATATATAATATATATAATATA TATTATATATATAATATATAATATATAATATATATTATTATATATAATAT ATATTATATATATAATATATATTATATATAATAATATATTATATATATAA TATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	334	0.0030	225	c.547 others(242): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATTATTATATATAATATATATTATATATATAATATAT ATTATATATAATAATATATATTATATATTATATATTATATATATAATATA TATTATATATATTATATATTATATATATAATATATATTATATATTATATA TATAATATATATAATATATATTATATATTATATATATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYO16_chr13_108624611_109213005	109023403	A A	ATATATTA others(218): Show ATATATTATACAGATATAAATATATATTTATATATTATACAGATATAAAT ATATATTTATATATTATACAGATATAAATATATATTTATATATTATACAG ATATAAATATATATTTATATATTATACAGATATAAATATATATTTATATA TTATACAGATATAAATATATATATATTATACAGATATAAATATATATTTA TATATTATACAGATATAAATATATCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0060 a0003c0060	a0003c0060t0004 a0003c0060t0004	a0003c0060t0004g0074 a0003c0060t0004g0074	1	152	0.0066	225	c.279 others(244): Show c.2796+3605_2796+3606insTTATATATTATACAGATATAAATATA TATTTATATATTATACAGATATAAATATATATATATTATACAGATATAAA TATATATTTATATATTATACAGATATAAATATATCTTATATTATACAGAT ATAAATATATATTTATATATTATACAGATATAAATATATATTTATATATT ATACAGATATAAATATATATTTATATATTATACAGATATAAATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO1B_chr2_191240404_191430386	191398423	A A	ATCCCCCC others(218): Show ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0007 a0001c0017 a0001c0007 a0001c0017	a0001c0007t0001 a0001c0017t0001 a0001c0007t0001 a0001c0017t0001	a0001c0007t0001g0004 a0001c0017t0001g0165 a0001c0007t0001g0004 a0001c0017t0001g0165	2	170	0.0118	225	c.229 others(244): Show c.2295+1926_2295+1927insTCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30			chr2	TogoVar
NAGK_chr2_71063648_71084808	71081105	T T	TTATTTTA others(218): Show TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTATGTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTTATGTTTGTTATGTTATGTTATGTTATGTTAT GTTATGTTATGTTATGTTATGTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	442	0.0023	225	c.25 others(236): Show c.2597_*2598insTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTTGTTATGTTAT GTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1298		chr2	TogoVar
NAV2_chr11_19707837_20126601	19860067	A A	ACGGGGCA others(218): Show ACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCCGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0051 a0005c0051	a0005c0051t0010 a0005c0051t0010	a0005c0051t0010g0066 a0005c0051t0010g0066	1	166	0.0060	225	c.439 others(242): Show c.439-8852_439-8851insAGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGC GGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGGCGGGGC	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19860067	A A	ACGGGGTG others(218): Show ACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCCGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0007 a0007	a0007c0112 a0007c0112	a0007c0112t0006 a0007c0112t0006	a0007c0112t0006g0071 a0007c0112t0006g0071	1	166	0.0060	225	c.439 others(242): Show c.439-8853_439-8852insTGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG CGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGGCGGGG	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19860082	G G	GGGCAGAG others(218): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGATGGGGCGGCTGGCCCGGCAGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGGCGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03579.hp2 HG02717.hp2 HG03579.hp2	a0001 a0001	a0001c0058 a0001c0059 a0001c0058 a0001c0059	a0001c0058t0009 a0001c0059t0001 a0001c0058t0009 a0001c0059t0001	a0001c0058t0009g0068 a0001c0059t0001g0135 a0001c0058t0009g0068 a0001c0059t0001g0135	2	166	0.0121	225	c.439 others(242): Show c.439-8780_439-8779insTGGGGCGGCTGGCCCGGCAGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19860082	G G	GGGCAGAG others(218): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGATGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0062 a0002c0014t0001g0062	1	166	0.0060	225	c.439 others(242): Show c.439-8780_439-8779insTGGGGCGGCTGGCCCGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19860082	G G	GGGCAGAG others(218): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGATGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGGCGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(134): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18964.hp1 NA18964.hp2 NA18979.hp1 NA18979.hp2 NA18991.hp1 NA18991.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0023	a0001c0003 a0001c0007 a0001c0008 others(116): Show a0001c0003 a0001c0007 a0001c0008 a0001c0018 a0001c0019 a0001c0024 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0036 a0001c0044 a0001c0046 a0001c0048 a0001c0052 a0001c0053 a0001c0054 a0001c0060 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0074 a0001c0075 a0001c0076 a0001c0077 a0001c0078 a0001c0079 a0001c0081 a0001c0086 a0001c0087 a0002c0002 a0002c0004 a0002c0009 a0002c0011 a0002c0012 a0002c0013 a0002c0014 a0002c0015 a0002c0020 a0002c0021 a0002c0091 a0002c0093 a0002c0095 a0002c0096 a0002c0098 a0002c0099 a0002c0100 a0002c0101 a0002c0102 a0002c0105 a0002c0115 a0002c0116 a0002c0118 a0002c0119 a0002c0120 a0002c0122 a0002c0124 a0002c0125 a0002c0126 a0002c0130 a0002c0131 a0002c0137 a0002c0138 a0002c0139 a0003c0005 a0003c0006 a0003c0040 a0003c0043 a0003c0055 a0003c0056 a0003c0062 a0003c0063 a0003c0064 a0003c0065 a0003c0066 a0003c0088 a0004c0001 a0004c0010 a0004c0016 a0004c0017 a0004c0103 a0004c0106 a0004c0121 a0004c0133 a0004c0134 a0005c0026 a0005c0035 a0005c0061 a0005c0082 a0005c0083 a0005c0143 a0006c0022 a0006c0023 a0006c0037 a0006c0039 a0006c0142 a0007c0090 a0007c0110 a0007c0111 a0007c0114 a0008c0097 a0008c0128 a0009c0109 a0010c0038 a0011c0025 a0013c0057 a0014c0108 a0015c0107 a0016c0104 a0017c0094 a0018c0132 a0020c0123 a0021c0089 a0022c0141 a0023c0140	a0001c0003t0011 a0001c0003t0023 a0001c0003t0026 others(127): Show a0001c0003t0011 a0001c0003t0023 a0001c0003t0026 a0001c0007t0007 a0001c0007t0010 a0001c0008t0016 a0001c0008t0021 a0001c0018t0048 a0001c0019t0049 a0001c0024t0001 a0001c0028t0030 a0001c0029t0006 a0001c0030t0040 a0001c0031t0001 a0001c0032t0001 a0001c0033t0004 a0001c0034t0041 a0001c0036t0046 a0001c0044t0003 a0001c0046t0014 a0001c0048t0036 a0001c0052t0007 a0001c0053t0010 a0001c0054t0005 a0001c0060t0016 a0001c0069t0004 a0001c0070t0022 a0001c0071t0007 a0001c0072t0001 a0001c0074t0001 a0001c0075t0002 a0001c0076t0015 a0001c0077t0009 a0001c0078t0001 a0001c0079t0024 a0001c0081t0012 a0001c0086t0001 a0001c0087t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0019 a0002c0002t0033 a0002c0004t0001 a0002c0009t0001 a0002c0011t0006 a0002c0012t0003 a0002c0013t0001 a0002c0014t0001 a0002c0015t0042 a0002c0020t0001 a0002c0021t0015 a0002c0091t0004 a0002c0093t0001 a0002c0095t0013 a0002c0096t0001 a0002c0098t0003 a0002c0099t0002 a0002c0100t0002 a0002c0101t0006 a0002c0102t0014 a0002c0105t0020 a0002c0115t0006 a0002c0116t0005 a0002c0118t0001 a0002c0119t0004 a0002c0120t0015 a0002c0122t0001 a0002c0124t0003 a0002c0125t0002 a0002c0126t0004 a0002c0130t0013 a0002c0131t0005 a0002c0137t0017 a0002c0138t0001 a0002c0139t0012 a0003c0005t0005 a0003c0006t0008 a0003c0006t0047 a0003c0040t0011 a0003c0043t0009 a0003c0055t0008 a0003c0056t0013 a0003c0062t0027 a0003c0063t0005 a0003c0064t0004 a0003c0065t0003 a0003c0066t0009 a0003c0088t0002 a0004c0001t0001 a0004c0001t0006 a0004c0010t0001 a0004c0010t0037 a0004c0016t0001 a0004c0016t0003 a0004c0017t0001 a0004c0103t0001 a0004c0106t0001 a0004c0121t0032 a0004c0133t0006 a0004c0134t0001 a0005c0026t0002 a0005c0035t0001 a0005c0061t0002 a0005c0082t0025 a0005c0083t0002 a0005c0143t0019 a0006c0022t0004 a0006c0023t0003 a0006c0037t0034 a0006c0039t0003 a0006c0142t0002 a0007c0090t0020 a0007c0110t0003 a0007c0111t0001 a0007c0114t0002 a0008c0097t0002 a0008c0128t0003 a0009c0109t0004 a0010c0038t0002 a0011c0025t0002 a0013c0057t0008 a0014c0108t0001 a0015c0107t0005 a0016c0104t0001 a0017c0094t0001 a0018c0132t0014 a0020c0123t0001 a0021c0089t0043 a0022c0141t0031 a0023c0140t0005	a0001c0003t0011g0014 a0001c0003t0023g0132 a0001c0003t0026g0157 others(134): Show a0001c0003t0011g0014 a0001c0003t0023g0132 a0001c0003t0026g0157 a0001c0007t0007g0088 a0001c0007t0010g0081 a0001c0008t0016g0087 a0001c0008t0021g0109 a0001c0018t0048g0141 a0001c0019t0049g0142 a0001c0024t0001g0047 a0001c0028t0030g0073 a0001c0029t0006g0104 a0001c0030t0040g0055 a0001c0031t0001g0082 a0001c0032t0001g0078 a0001c0033t0004g0058 a0001c0034t0041g0112 a0001c0036t0046g0123 a0001c0044t0003g0005 a0001c0046t0014g0101 a0001c0048t0036g0150 a0001c0052t0007g0134 a0001c0053t0010g0163 a0001c0054t0005g0083 a0001c0060t0016g0119 a0001c0069t0004g0019 a0001c0070t0022g0108 a0001c0071t0007g0011 a0001c0072t0001g0079 a0001c0074t0001g0042 a0001c0075t0002g0043 a0001c0076t0015g0089 a0001c0077t0009g0155 a0001c0078t0001g0122 a0001c0079t0024g0133 a0001c0081t0012g0164 a0001c0086t0001g0148 a0001c0087t0001g0034 a0002c0002t0001g0059 a0002c0002t0004g0029 a0002c0002t0019g0099 a0002c0002t0033g0106 a0002c0004t0001g0040 a0002c0004t0001g0095 a0002c0004t0001g0100 a0002c0009t0001g0017 a0002c0009t0001g0018 a0002c0011t0006g0096 a0002c0012t0003g0012 a0002c0012t0003g0013 a0002c0013t0001g0144 a0002c0013t0001g0145 a0002c0014t0001g0033 a0002c0015t0042g0037 a0002c0020t0001g0140 a0002c0021t0015g0139 a0002c0091t0004g0028 a0002c0093t0001g0110 a0002c0095t0013g0126 a0002c0096t0001g0130 a0002c0098t0003g0032 a0002c0099t0002g0053 a0002c0100t0002g0052 a0002c0101t0006g0025 a0002c0102t0014g0064 a0002c0105t0020g0094 a0002c0115t0006g0102 a0002c0116t0005g0136 a0002c0118t0001g0036 a0002c0119t0004g0103 a0002c0120t0015g0156 a0002c0122t0001g0072 a0002c0124t0003g0091 a0002c0125t0002g0125 a0002c0126t0004g0031 a0002c0130t0013g0149 a0002c0131t0005g0086 a0002c0137t0017g0009 a0002c0138t0001g0035 a0002c0139t0012g0085 a0003c0005t0005g0128 a0003c0006t0008g0159 a0003c0006t0047g0002 a0003c0040t0011g0162 a0003c0043t0009g0147 a0003c0055t0008g0070 a0003c0056t0013g0001 a0003c0062t0027g0129 a0003c0063t0005g0006 a0003c0064t0004g0016 a0003c0065t0003g0080 a0003c0066t0009g0154 a0003c0088t0002g0069 a0004c0001t0001g0060 a0004c0001t0001g0065 a0004c0001t0001g0098 a0004c0001t0006g0046 a0004c0010t0001g0015 a0004c0010t0037g0116 a0004c0016t0001g0021 a0004c0016t0003g0117 a0004c0017t0001g0051 a0004c0103t0001g0007 a0004c0106t0001g0143 a0004c0121t0032g0041 a0004c0133t0006g0024 a0004c0134t0001g0050 a0005c0026t0002g0120 a0005c0035t0001g0038 a0005c0061t0002g0048 a0005c0082t0025g0084 a0005c0083t0002g0057 a0005c0143t0019g0114 a0006c0022t0004g0124 a0006c0023t0003g0027 a0006c0037t0034g0023 a0006c0039t0003g0121 a0006c0142t0002g0107 a0007c0090t0020g0056 a0007c0110t0003g0045 a0007c0111t0001g0074 a0007c0114t0002g0105 a0008c0097t0002g0118 a0008c0128t0003g0127 a0009c0109t0004g0039 a0010c0038t0002g0054 a0011c0025t0002g0115 a0013c0057t0008g0093 a0014c0108t0001g0044 a0015c0107t0005g0092 a0016c0104t0001g0063 a0017c0094t0001g0111 a0018c0132t0014g0022 a0020c0123t0001g0003 a0021c0089t0043g0020 a0022c0141t0031g0166 a0023c0140t0005g0165	137	166	0.8253	225	c.439 others(242): Show c.439-8780_439-8779insTGGGGCGGCTGGCCCGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19860082	G G	GGGCAGAG others(218): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGATGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCCTCCCGGGCGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA20129.hp1 HG02970.hp2 NA20129.hp1	a0001 a0001	a0001c0050 a0001c0080 a0001c0050 a0001c0080	a0001c0050t0035 a0001c0080t0018 a0001c0050t0035 a0001c0080t0018	a0001c0050t0035g0151 a0001c0080t0018g0152 a0001c0050t0035g0151 a0001c0080t0018g0152	2	166	0.0121	225	c.439 others(242): Show c.439-8780_439-8779insTGGGGCGGCTGGCCCGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACC CCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19860082	G G	GGGCAGAG others(218): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGATGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGGCGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG03209.hp1 HG02109.hp1 HG02809.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0045 a0001c0049 a0003c0067 a0001c0045 a0001c0049 a0003c0067	a0001c0045t0018 a0001c0049t0011 a0003c0067t0007 a0001c0045t0018 a0001c0049t0011 a0003c0067t0007	a0001c0045t0018g0113 a0001c0049t0011g0008 a0003c0067t0007g0010 a0001c0045t0018g0113 a0001c0049t0011g0008 a0003c0067t0007g0010	3	166	0.0181	225	c.439 others(242): Show c.439-8780_439-8779insTGGGGCGGCTGGCCCGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19860082	G G	GGGCAGAG others(218): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGATGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCTCCCAC CTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGGCGGGGCGGCTGGCCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0012 a0001c0047t0012	a0001c0047t0012g0067 a0001c0047t0012g0067	1	166	0.0060	225	c.439 others(242): Show c.439-8780_439-8779insTGGGGCGGCTGGCCCGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCTCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19860119	G G	GGGCAGAG others(218): Show GGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCCGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCAGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0004 a0004	a0004c0136 a0004c0136	a0004c0136t0001 a0004c0136t0001	a0004c0136t0001g0097 a0004c0136t0001g0097	1	166	0.0060	225	c.439 others(242): Show c.439-8780_439-8779insTGGGGCGGCTGGCCCGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19860128	C C	CGCCCCTC others(218): Show CGCCCCTCACCTCCCGGATGGGGCGGCTGGCCCGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGGCGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA20300.hp2 HG00673.hp1 NA20300.hp2	a0002 a0004 a0002 a0004	a0002c0129 a0004c0017 a0002c0129 a0004c0017	a0002c0129t0004 a0004c0017t0006 a0002c0129t0004 a0004c0017t0006	a0002c0129t0004g0030 a0004c0017t0006g0026 a0002c0129t0004g0030 a0004c0017t0006g0026	2	166	0.0121	225	c.439 others(242): Show c.439-8780_439-8779insTGGGGCGGCTGGCCCGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19860143	G G	GGATGGGG others(218): Show GGATGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGG CGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0016 a0002c0015t0016	a0002c0015t0016g0153 a0002c0015t0016g0153	1	166	0.0060	225	c.439 others(242): Show c.439-8780_439-8779insTGGGGCGGCTGGCCCGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NBEA_chr13_34937270_35677736	35653497	A A	ATTTTTGT others(218): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCG GACTGGGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0107 a0002c0016t0002g0107	1	122	0.0082	225	c.803 others(244): Show c.8036-1345_8036-1344insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGTCGGACTGGGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	53/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NCAPG2_chr7_158626169_158709804	158667840	C C	CCTTACCT others(218): Show CCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTC CGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCAC TACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG02976.hp2 HG00733.hp2 HG00735.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0002g0127 a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0002g0127	3	378	0.0079	225	c.148 others(244): Show c.1480-3091_1480-3090insCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGGGTCGGTAAGGAAGGCGGAGGGACCCAGTA GTGGGTAAGAGGGTGGAGGGCCACAGGGTAGGTAAGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGGGTCGGTAAGGAAGGCG GAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAGGGTAGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFB2_chr7_140691708_140711643	140706031	T T	TTGTTATG others(218): Show TTGTTATGTTATGTTATGTTGTTATGTTATGTTATGTTTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	306	0.0033	225	c.30 others(240): Show c.30-513_*30-512insGTTATGTTATGTTATGTTTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT	NDUFB2	ENSG00000090266.13	transcript	ENST00000247866.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(218): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATATATGTACAGTATGTATACCGTATACAGCATGTATACTGT ATATATGTACAGTATGTATACCGTATACAGTATGTATACCGTATACATAT ACAGTATGTATACCGTATACAGTATGTATACCGTATATATATACACAGTA TGTATACCGTATATATATACACAGTA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0084 a0001c0007t0001g0084	1	362	0.0028	225	c.-75 others(244): Show c.-75+17711_-75+17712insTACTGTGTATATATATACGGTATACA TACTGTGTATATATATACGGTATACATACTGTATACGGTATACATACTGT ATATGTATACGGTATACATACTGTATACGGTATACATACTGTACATATAT ACAGTATACATGCTGTATACGGTATACATACTGTACATATATACAGTATA CATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NKAIN1_chr1_31174745_31244887	31176667	G G	GCCCCGTC others(218): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGGGTCAGCCCACCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGAGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG06807.hp1 HG02976.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0297 a0001c0001t0003g0211 a0001c0001t0003g0297	2	338	0.0059	225	c.50 others(236): Show c.5035_*5036insTGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CTCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGG CCGGGCGGTGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGC CGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding		3077		chr1	TogoVar
NKX1-1_chr4_1397932_1411442	1398148	G G	GGTAGATC others(218): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03130.hp1 HG03471.hp2 HG02723.hp1 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	3	382	0.0079	225	c.47 others(236): Show c.4783_*4784insTCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4783		chr4	TogoVar

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