Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IRAK2_chr3_10159919_10248745	10224735	T T	TCCATCCA others(205): Show TCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACC CATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCA TCCATCCACCCACCCACCCACCCACCCATCCATCCACCCACCTGTCCACC CATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTA CCCACACATCCAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	292	0.0034	212	c.121 others(231): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCCACCCACCCATCCATC CACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCACCCA TCCATTTATCCACCTACCCACACATCCACCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224735	T T	TCCATCCA others(205): Show TCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACC CATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCA TCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACC CATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTA CCCACACATCCAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02647.hp1 HG03041.hp2 others(1): Show HG01192.hp2 HG02647.hp1 HG03041.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0004c0005t0009 a0001c0001t0001 a0004c0005t0001 a0004c0005t0009	a0001c0001t0001g0072 a0004c0005t0001g0053 a0004c0005t0001g0290 others(1): Show a0001c0001t0001g0072 a0004c0005t0001g0053 a0004c0005t0001g0290 a0004c0005t0009g0195	4	292	0.0137	212	c.121 others(231): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCACCCA TCCATTTATCCACCTACCCACACATCCACCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224739	T T	TCCACCCA others(205): Show TCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCCATC CATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCA TCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACC CATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTA CCCACACATCCAC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	292	0.0034	212	c.121 others(231): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCCACCCACCCATCCATC CACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCA CCCATCCATTTATCCACCTACCCACACATCCACCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406172	A A	CGTCTTCC others(205): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTC TGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACC TCTGTGACATCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0214 a0001c0001t0214	a0001c0001t0214g0187 a0001c0001t0214g0187	1	276	0.0036	212	c.66 others(221): Show c.662_*663insAGATGTCACAGAGGTCCACTCAGTGACACACACTGA AGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACACACACT GAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACACACA CTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAA CACACACTGAAGGCCTGAGGAAGACG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	662		chr2	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(205): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	426	0.0024	212	c.-86 others(221): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
JAKMIP3_chr10_132060946_132189858	132139361	C C	CGTCTGTA others(205): Show CGTCTGTACGTGTGTATGTGAGTGTATGAGTATGTGAGTGTGTATGTGTG AGTGTGCGTGTGTGTTTGTATGTGTGTACATGTGAGTGTATATGCATCTG TGTGTGTATGTGTGTGTGTATGTGTGTACATGTGAGTGTATATGCATCTG TGTATGTGTGTGTGTATGTGTATGTGTGTGTGTTTGTATGTGTGTACATG TGAGTGTATATGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0037 a0001c0032t0037	a0001c0032t0037g0124 a0001c0032t0037g0124	1	158	0.0063	212	c.134 others(231): Show c.1345-1076_1345-1075insATGTGAGTGTATGAGTATGTGAGTGT GTATGTGTGAGTGTGCGTGTGTGTTTGTATGTGTGTACATGTGAGTGTAT ATGCATCTGTGTGTGTATGTGTGTGTGTATGTGTGTACATGTGAGTGTAT ATGCATCTGTGTATGTGTGTGTGTATGTGTATGTGTGTGTGTTTGTATGT GTGTACATGTGAGTGTATATGTGTCTGTACGTGTGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JPH2_chr20_44101590_44192188	44134412	A A	AAATATAT others(205): Show AAATATATATTTATTATATATAAATATATATTTATAATATATATAATATA TATTTATTAATATATAATATATATTTATAATATATATAAATAAATATATA TTTATAATAAATAAATATAAATATATATTTATTTATATAAATAAATATAT ATTTATTTATATAAATAAATATATATTTATTTATATATAATAAATATATA TTTATTTATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp1 HG06807.hp2 HG02280.hp2 HG03209.hp1 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0088 a0001c0004t0008g0089 a0001c0004t0008g0090 a0001c0004t0008g0088 a0001c0004t0008g0089 a0001c0004t0008g0090	3	338	0.0089	212	c.117 others(233): Show c.1170-15790_1170-15789insATATATAAATAAATATATATTTAT TATATATAAATAAATATATATTTATTTATATAAATAAATATATATTTATT TATATAAATAAATATATATTTATATTTATTTATTATAAATATATATTTAT TTATATATATTATAAATATATATTATATATTAATAAATATATATTATATA TATTATAAATATATATTTATATATAATAAATATATATT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAAATA others(205): Show TATAAATATATATTTATTATATATATATATAATATATATAATATATATTT ATTAATATATAATAAATATATATTTATAATATATATAAATAAATATATAT TTATAATAAATAAATATAAATATATATTTATTTATATAAATAAATATATA TTTATTTATATAAATAAATATATATTTATTATATATAAATAAATATATCA TTTATTTATATAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0198 a0001c0003t0001g0198	1	338	0.0030	212	c.117 others(233): Show c.1170-15845_1170-15844insTTATATAAATAAATGATATATTTA TTTATATATAATAAATATATATTTATTTATATAAATAAATATATATTTAT TTATATAAATAAATATATATTTATATTTATTTATTATAAATATATATTTA TTTATATATATTATAAATATATATTTATTATATATTAATAAATATATATT ATATATATTATATATATATATAATAAATATATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCTD5_chr16_2677523_2714030	2702847	A A	AGGGGTCT others(205): Show AGGGGTCTGGGCCATCCCTGAGTGCAGGGACACGGGGGTCCAGTTGTCGT GGTGGGGGTCTGGGCCATCCCTGAGTGCAGGGACATGGGGGTCCAGTTGT CGTGGTGGGGGTCTGGGCCATCCCTGAGTGCAGGGACATGGGGGTCCAGT TGTCGTGGTGGGGGTCTGGGCCATCCCTGAGTGCAGGGACACGGGGGTCC AGTTGTCGTGGTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	414	0.0024	212	c.675 others(227): Show c.675+400_675+401insCGGGGGTCCAGTTGTCGTGGTGGGGGTCTG GGCCATCCCTGAGTGCAGGGACATGGGGGTCCAGTTGTCGTGGTGGGGGT CTGGGCCATCCCTGAGTGCAGGGACATGGGGGTCCAGTTGTCGTGGTGGG GGTCTGGGCCATCCCTGAGTGCAGGGACACGGGGGTCCAGTTGTCGTGGT GGGGGTCTGGGCCATCCCTGAGTGCAGGGACA	KCTD5	ENSG00000167977.9	transcript	ENST00000301738.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
KDM4B_chr19_4964113_5158598	5131575	G G	GGGGGGCA others(205): Show GGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGGAGGAGGGGGCAGGTG GGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGGGGC AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGG GGGCAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	270	0.0037	212	c.178 others(227): Show c.1785+47_1785+48insAGCGGGGGAGGCAGGGGAGGAGGGGGCAGG TGGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGGG GCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAG GGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KLHL23_chr2_169728832_169756878	169750028	C C	CATATATG others(205): Show CATATATGTGTATATATACGTATGTATACATATATGTGTATATATACGTA TGTATACATATATGTGTATATATACGTATGTATGTATACATATATGTGTA TATATACGTATGTATACATATATGTATATATACGTGTGTATGTATACATA TATGTGTATATATACGTTTGTATGTATACATATATGTGTATATATACGTA TGTATGTATACAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0108 a0001c0002t0108	a0001c0002t0108g0055 a0001c0002t0108g0055	1	400	0.0025	212	c.30 others(221): Show c.300_*301insATGTGTATATATACGTATGTATACATATATGTGTAT ATATACGTATGTATACATATATGTGTATATATACGTATGTATGTATACAT ATATGTGTATATATACGTATGTATACATATATGTATATATACGTGTGTAT GTATACATATATGTGTATATATACGTTTGTATGTATACATATATGTGTAT ATATACGTATGTATGTATACATATAT	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	301	INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL6_chr3_183482551_183560706	183534073	C C	CCTTTAAA others(205): Show CCTTTAAAAGTACTTTACTTTTAAAGTACTTTTACTTTTAAAGTACTTTA AAAGTACTTTTACTTTTAAAGTACTTTAAAAGTACTTTTACTTTTAAAGT ACTTTAAAAGTACTTTTACTTTTAAAGTACTTTAAAAGTACTTTTACTTT TAAAGTACTTTAAAAGTACTTTTACTTTTAAAGTACTTTAAAAGTACTTT TACTTTTAAAGTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01069.hp1 HG01071.hp1 HG01175.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0021 a0004c0012t0021	a0004c0012t0021g0006 a0004c0012t0021g0007 a0004c0012t0021g0008 a0004c0012t0021g0006 a0004c0012t0021g0007 a0004c0012t0021g0008	3	298	0.0101	212	c.294 others(229): Show c.294-6064_294-6063insTACTTTAAAAGTAAAAGTACTTTTAAAG TACTTTAAAAGTAAAAGTACTTTTAAAGTACTTTAAAAGTAAAAGTACTT TTAAAGTACTTTAAAAGTAAAAGTACTTTTAAAGTACTTTAAAAGTAAAA GTACTTTTAAAGTACTTTAAAAGTAAAAGTACTTTTAAAGTACTTTAAAA GTAAAAGTACTTTAAAAGTAAAGTACTTTTAAAG	KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6			chr3	TogoVar
LAMC1_chr1_183018420_183150592	183149847	T T	TCCTCACA others(205): Show TCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACA GCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATC CCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCA CACAGCCCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0030 a0002c0027t0030	a0002c0027t0030g0113 a0002c0027t0030g0113	1	308	0.0033	212	c.70 others(223): Show c.7057_*7058insCCTCACACACCACACAGCCCACACCCCTGTCCTC CTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCC ACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTGT CCTCCTCACACACCACACAGCCCACACC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4256		chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149880	T T	TCCTCACA others(205): Show TCCTCACACACCACACAGCTCACACCCCTGTCCTCCTCACACACCACACA GCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATC CCTCTCCTCACACACCACACAGCTCACACCCCTGTCCTCCTCACACACCA CACAGCCCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	308	0.0033	212	c.70 others(223): Show c.7090_*7091insCCTCACACACCACACAGCTCACACCCCTGTCCTC CTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCC ACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCCCTGT CCTCCTCACACACCACACAGCCCACACC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4289		chr1	TogoVar
LCN15_chr9_136754634_136769518	136769477	A A	ACCCCTCC others(205): Show ACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCC CGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCC CCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATG CACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTC CATGCACTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	212	c.-49 others(223): Show c.-4990_-4989insGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAG TGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGG GCAGTGCATGGAGGGGTGGCGGGGGGGGGGGGCAGTGCATGGAGGGGTGG CGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGG GTGGCGGGGGGGGCAGTGCATGGAGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4960		chr9	TogoVar
LDLRAD4_chr18_13213760_13657751	13262399	T T	TCTGTGCG others(205): Show TCTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGTGTGTGGAAACTGA GTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCG TGGAAACTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCG GCCCTGTGCATGGAAACTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCTGA GTCCCGTGCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0175	1	178	0.0056	212	c.-46 others(233): Show c.-466-15677_-466-15676insTCTGTGTGTGTGGAAACTGAGTCC CGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGA AACTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCC TGTGCATGGAAACTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCTGAGTCC CGTGCGGCCCTGTGCGTGGGGGCTGAGTCCCGTGTGGC	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13262399	T T	TCTGTGCG others(205): Show TCTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGTGTGTGGAAACTGA GTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCG TGGAAACTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCG GCCCTGTGCGTGGAAACTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCTGA GTCCCGTGCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00597.hp2 others(38): Show HG00099.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02074.hp1 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03942.hp2 NA18906.hp1 NA18945.hp2 NA18948.hp2 NA18980.hp2 NA19057.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0062 a0001c0002t0001 a0001c0002t0014	a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0065 others(38): Show a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0141 a0001c0001t0001g0167 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0087 a0001c0001t0002g0101 a0001c0001t0002g0138 a0001c0001t0003g0034 a0001c0001t0003g0130 a0001c0001t0003g0154 a0001c0001t0004g0153 a0001c0001t0006g0103 a0001c0001t0006g0132 a0001c0001t0007g0142 a0001c0001t0008g0053 a0001c0001t0011g0105 a0001c0001t0013g0143 a0001c0001t0013g0169 a0001c0001t0017g0088 a0001c0001t0020g0092 a0001c0001t0020g0178 a0001c0001t0023g0093 a0001c0001t0025g0106 a0001c0001t0027g0069 a0001c0001t0028g0144 a0001c0001t0031g0039 a0001c0001t0032g0122 a0001c0001t0034g0102 a0001c0001t0036g0129 a0001c0001t0037g0098 a0001c0001t0040g0127 a0001c0001t0048g0041 a0001c0001t0050g0168 a0001c0001t0051g0077 a0001c0001t0062g0033 a0001c0002t0001g0136 a0001c0002t0014g0123	41	178	0.2303	212	c.-46 others(233): Show c.-466-15677_-466-15676insTCTGTGTGTGTGGAAACTGAGTCC CGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGA AACTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCC TGTGCGTGGAAACTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCTGAGTCC CGTGCGGCCCTGTGCGTGGGGGCTGAGTCCCGTGTGGC	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	857636	G G	GAGTGGTG others(205): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC ACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0056 a0002c0056	a0002c0056t0001 a0002c0056t0001	a0002c0056t0001g0018 a0002c0056t0001g0018	1	294	0.0034	212	c.153 others(231): Show c.1530-2931_1530-2930insGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCC CGAGACACCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858029	G G	GAGTGGTG others(205): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0097 a0001c0013t0001g0097	1	294	0.0034	212	c.153 others(231): Show c.1530-3324_1530-3323insGCACACCCATCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858589	G G	GCAGTGGT others(205): Show GCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAG TGGTGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGT GACTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTC TCGGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	294	0.0034	212	c.153 others(231): Show c.1530-3884_1530-3883insGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTGCACACCCATCCCGAGACACCACGCACA CCCATCCCGAGACACCACTGCACACCCATCCCGAGTCACCACTCACACCC ATCCCGTGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCC CGAGACACCACTCACACCCATCCCGAGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LOC127933115_chrX_23778278_23788367	23780122	C C	CACACATA others(205): Show CACACATATATATGTGTATATATATACGTATATATACACACATATATATG TGTATATATATATACGTATATATACACACATATATATGTGTATATATATA CGTATATATATACACATATATATGTGTATATATATACGTATATATACACA TATATATGTGTATATATACGTATATATATACACATATATATGTGTATATA TACGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	334	0.0030	212	c.-31 others(223): Show c.-3156_-3155insACACATATATATGTGTATATATATACGTATATAT ACACACATATATATGTGTATATATATATACGTATATATACACACATATAT ATGTGTATATATATACGTATATATATACACATATATATGTGTATATATAT ACGTATATATACACATATATATGTGTATATATACGTATATATATACACAT ATATATGTGTATATATACGTATATATAT	LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding		3155		chrX	TogoVar
LRRC27_chr10_132327193_132386508	132364748	G G	GCCCACAC others(205): Show GCCCACACTCACACCCACCCTTACATCTACCTCCACACTCGCACTCACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACGCCC ACACTCACACCCA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0052 a0001c0009t0052	a0001c0009t0052g0282 a0001c0009t0052g0282	1	290	0.0035	212	c.129 others(229): Show c.1290-668_1290-667insCACACCCACCCTTACATCTACCTCCACA CTCGCACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA CACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACA CCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATC TACCTCCACGCCCACACTCACACCCACCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(205): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTT TCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	436	0.0023	212	c.40 others(223): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGG AAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGA AAGGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGA AAGGAAAGAAAGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MACROD2_chr20_13990516_16058197	14862232	A A	AATATATA others(205): Show AATATATATATAAATATATATAAATATATATAAATATATATTTATATATT AATATATAAATATATATAAATATATATTTATATATTAATATATAAATATA TATATATTTATATATTAATATATAAATATATATATATTTATATATAAATA TATATAAATATATATTTATATATTAATATATATATATTAATATATATATA TTTATATATTAAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0013 a0002c0002t0007g0013	1	24	0.0417	212	c.418 others(233): Show c.418+177281_418+177282insATAAATATATATAAATATATATAA ATATATATTTATATATTAATATATAAATATATATAAATATATATTTATAT ATTAATATATAAATATATATATATTTATATATTAATATATAAATATATAT ATATTTATATATAAATATATATAAATATATATTTATATATTAATATATAT ATATTAATATATATATATTTATATATTAATATATATAT	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAP2K2_chr19_4085321_4129122	4122247	G G	GACCCTCC others(205): Show GACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCCTCACCCCATCTC TCCCCCACAGGGACCCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCC CACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATA GGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCT CTCCCCCATAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0077 a0004c0014t0002g0077	1	330	0.0030	212	c.92+ others(227): Show c.92+1536_92+1537insTCCTATGGGGGAGAGATGGGGTGGGAGGGT CCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGG GTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGG GAGAGATGGGGTGAGGGGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGG GTCCCTGTGGGGGAGAGATGGGGTGGGAGGGT	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122308	A A	ACCCCCTC others(205): Show ACCCCCTCACCCCATCTCTCCCCCACAGGGACCCCCCTCACCCCATCTCT CCCCCACAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCA CCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGG GACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCACAGGGAC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0159 a0009c0015t0001g0159	1	330	0.0030	212	c.92+ others(227): Show c.92+1475_92+1476insGTCCCTGTGGGGGAGAGATGGGGTGGGAGG GTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATG GGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGG GGGAGAGATGGGGTGGGAGGGTCCCTGTGGGGGAGAGATGGGGTGAGGGG GGTCCCTGTGGGGGAGAGATGGGGTGAGGGGG	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122338	A A	ACCCCCTC others(205): Show ACCCCCTCACCCCATCTCTCCCCCACAGGGACCCTCCCACCCCATCTCTC CCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCAC CCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGG ACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCCTCACCCCATCTCT CCCCCATAGGGAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	330	0.0030	212	c.92+ others(227): Show c.92+1445_92+1446insGTCCCTATGGGGGAGAGATGGGGTGAGGGG GGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGAT GGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATG GGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAG GGTCCCTGTGGGGGAGAGATGGGGTGAGGGGG	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122338	A A	ACCCCCTC others(205): Show ACCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTC CCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCAC CCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGA ACCCTCCCACCCCATCTCTCCCCCACAGGGACCCCCCTCACCCCATCTCT CCCCCATAGGGAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0296 a0001c0002t0007g0296	1	330	0.0030	212	c.92+ others(227): Show c.92+1445_92+1446insGTCCCTATGGGGGAGAGATGGGGTGAGGGG GGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTTCCTATGGGGGAGAGAT GGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATG GGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAG GGTCCCTATGGGGGAGAGATGGGGTGAGGGGG	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP2K2_chr19_4085321_4129122	4122398	A A	ACCCTCCC others(205): Show ACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTC CCCCATAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCAC CCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCTCCCCCATAGGG ACCCCCCTCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCT CCCCCATAGGGAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0285 a0001c0001t0005g0285	1	330	0.0030	212	c.92+ others(227): Show c.92+1385_92+1386insGTCCCTATGGGGGAGAGATGGGGTGGGAGG GTCCCTATGGGGGAGAGATGGGGTGAGGGGGGTCCCTATGGGGGAGAGAT GGGGTGAGGGGGTCCCTGTGGGGGAGAGATGGGGTGGGAGGGTCCCTATG GGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAG GGTCCCTATGGGGGAGAGATGGGGTGGGAGGG	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(205): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGAGAGGGGAGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGAGGGGGG AGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	163	0.0061	212	c.525 others(229): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCC CCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTC TCCCCTCTCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCC CCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(205): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGAGGGGGG AGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	163	0.0061	212	c.525 others(229): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCC CCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTC CCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCC CCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(205): Show TATATGTATATATGTACATATATGTATATATGTATATATGTATATATGTA CATATATGTATATATGTATATATGTACATATATACATATATGTACATATA TGTATATATGTACACATGTACATATATGTACATATGTACACATGTACATA TATGTACACATGTACATATATGTACATATGTACATATATGTACATATATG TACATATATGTAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0152 a0002c0001t0004g0152	1	160	0.0063	212	c.627 others(229): Show c.627+6680_627+6681insGTACATATATGTACATATATGTACATAT ATGTACATATGTACATATATGTACATGTGTACATATATGTACATGTGTAC ATATGTACATATATGTACATGTGTACATATATACATATATGTACATATAT GTATATATGTACATATATACATATATACATATATGTACATATATACATAT ATACATATATACATATATGTACATATATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(205): Show TATATGTATATATGTACATATATGTATATATGTATATATGTATATATGTA CATATATGTATATATGTATATATGTACATATATACATATATGTACATATA TGTATATATGTACACATGTACATATATGTACATATGTACACATGTACATA TATGTACATATGTACATATATGTACATATATGTACATATATGTACATATG TACATATATGTAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02257.hp1 HG01123.hp1 HG02257.hp1	a0002 a0002	a0002c0013 a0002c0029 a0002c0013 a0002c0029	a0002c0013t0015 a0002c0029t0001 a0002c0013t0015 a0002c0029t0001	a0002c0013t0015g0130 a0002c0029t0001g0132 a0002c0013t0015g0130 a0002c0029t0001g0132	2	160	0.0125	212	c.627 others(229): Show c.627+6680_627+6681insGTACATATATGTACATATGTACATATAT GTACATATATGTACATATATGTACATATGTACATATATGTACATGTGTAC ATATGTACATATATGTACATGTGTACATATATACATATATGTACATATAT GTATATATGTACATATATACATATATACATATATGTACATATATACATAT ATACATATATACATATATGTACATATATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MGAM_chr7_141990879_142111747	142045745	A A	AATATATA others(205): Show AATATATAATATATACATACAATGTATGAATATATAATATATAATATATA CATACAATGTATGAATATATAATATATAATATATACATACAATGTATGAA TATATAATATATAATATATACATACAATGTATGAATATATAATATATAAT ATATACATACAATGTATGAATATATAATATATAATATATACATACAATGT ATGAATATATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02055.hp1 others(10): Show HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02451.hp2 HG02486.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03453.hp2 HG06807.hp2 NA19030.hp2	a0001 a0010 a0011 others(2): Show a0001 a0010 a0011 a0016 a0044	a0001c0014 a0001c0039 a0001c0041 others(6): Show a0001c0014 a0001c0039 a0001c0041 a0001c0136 a0010c0040 a0011c0042 a0011c0100 a0016c0139 a0044c0138	a0001c0014t0001 a0001c0039t0003 a0001c0041t0001 others(6): Show a0001c0014t0001 a0001c0039t0003 a0001c0041t0001 a0001c0136t0001 a0010c0040t0001 a0011c0042t0001 a0011c0100t0001 a0016c0139t0001 a0044c0138t0001	a0001c0014t0001g0312 a0001c0039t0003g0040 a0001c0039t0003g0307 others(10): Show a0001c0014t0001g0312 a0001c0039t0003g0040 a0001c0039t0003g0307 a0001c0041t0001g0243 a0001c0041t0001g0304 a0001c0136t0001g0305 a0010c0040t0001g0115 a0010c0040t0001g0116 a0011c0042t0001g0008 a0011c0042t0001g0059 a0011c0100t0001g0224 a0016c0139t0001g0300 a0044c0138t0001g0306	13	316	0.0411	212	c.249 others(231): Show c.2499-2033_2499-2032insATATATACATACAATGTATGAATATA TAATATATAATATATACATACAATGTATGAATATATAATATATAATATAT ACATACAATGTATGAATATATAATATATAATATATACATACAATGTATGA ATATATAATATATAATATATACATACAATGTATGAATATATAATATATAA TATATACATACAATGTATGAATATATAATATATATA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237543300	G G	GGGGGGAC others(205): Show GGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGATGGTGAGTG GGCACGGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGG CACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	286	0.0035	212	c.153 others(229): Show c.1539+645_1539+646insGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGGGGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGCAAGTGG GCACAGTGGTGAGTGGGCACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPI_chr15_74885042_74907219	74894104	G G	GCCAGGGT others(205): Show GCCAGGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTT GGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCATTAT TTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTTTTCTGAGC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0141 a0001c0003t0005g0141	1	422	0.0024	212	c.670 others(227): Show c.670+784_670+785insCCAGGGTCTCTTTCTGTTGCCCCAGGCTGG AGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCA AGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTC AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGC	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7			chr15	TogoVar
MPPED1_chr22_43407014_43512848	43432756	A A	AGAGAGAA others(205): Show AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAA AGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGA GAGATAAAGGGAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	250	0.0040	212	c.225 others(229): Show c.225-2277_225-2276insAGAGAAAGGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGATAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAG AGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSH3_chr5_80649652_80881815	80692376	T T	TTAGATAG others(205): Show TTAGATAGATAGATAAACATGTATATGTTTAGATAGATAAACATGTATAT GTTTAGATAGATAGATAAACATGTATATGTTTAGATAGATAAACATGTAT ATGTTTAGATAGATAGATAAACATGTATATGTTTAGATAGATAAACATGT ATATGTTTAGATAGATAAACATGTATATGTTTAGATAGATAGATAAACAT GTATATGTTTAGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0311 a0001c0001t0005g0311	1	362	0.0028	212	c.134 others(233): Show c.1340+13293_1340+13294insGATAAACATGTATATGTTTAGATA GATAAACATGTATATGTTTAGATAGATAGATAAACATGTATATGTTTAGA TAGATAAACATGTATATGTTTAGATAGATAGATAAACATGTATATGTTTA GATAGATAAACATGTATATGTTTAGATAGATAAACATGTATATGTTTAGA TAGATAGATAAACATGTATATGTTTAGATAGATAGATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MTA1_chr14_105414827_105475729	105442778	G G	GCTGTGTG others(205): Show GCTGTGTGCAGGAACACAGCAGAACACAACAGACCCCGAGTGTGACTGAG TCCGCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGAGTGTGACT GAGTCCGCTGTGTGCAGGAACACAGCAGAACACAACAGACCCCGAGTGTG ACTGAGTCCGCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGAGT GTGACTGAGTCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp2 others(11): Show HG00140.hp1 HG00280.hp2 HG00642.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG02257.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0001 a0002c0002t0001 a0004c0003t0001 a0001c0001t0001 a0002c0002t0001 a0004c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0081 a0001c0001t0001g0089 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0247 a0001c0001t0001g0270 a0002c0002t0001g0066 a0002c0002t0001g0122 a0002c0002t0001g0140 a0004c0003t0001g0080 a0004c0003t0001g0115	14	304	0.0461	212	c.97- others(227): Show c.97-2623_97-2622insGCAGAACACAACAGACCCCGAGTGTGACTG AGTCCGCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGAGTGTGA CTGAGTCCGCTGTGTGCAGGAACACAGCAGAACACAACAGACCCCGAGTG TGACTGAGTCCGCTGTGTGCAGGAACACAACACAACAGAACAGACCCCGA GTGTGACTGAGTCCACTGTGTGCAGGAACACA	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTA1_chr14_105414827_105475729	105442796	A A	ACACAACA others(205): Show ACACAACAGAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAAC ACAACACAACAGAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGG AACACAGCAGAACACAACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGC AGGAACACAACACAACAGAACAGACCCCGAGTGTGACTGAGTCCACTGTG TGCAGGAACACAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00408.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	304	0.0066	212	c.97- others(227): Show c.97-2588_97-2587insGCTGTGTGCAGGAACACAACACAACAGAAC AGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAGCAGAACAC AACAGACCCCGAGTGTGACTGAGTCCGCTGTGTGCAGGAACACAACACAA CAGAACAGACCCCGAGTGTGACTGAGTCCACTGTGTGCAGGAACACAGCA CAACAGAACAGACCCCGAGTGTGACTGAGTCC	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTMR12_chr5_32222007_32317939	32228595	T T	TATATATA others(205): Show TATATATATCATATATATGTGATATATATGTATCATATATATGTGATATA TATGTATCATATATATGTGATATATATGTATCATATATATGTGATATATA TATATCATATATATGTGATATATATATATCATATATATGTGATATATATA TATCATATATATGTGATATATATATATCATATATATGTGATATATATATA TCATATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0013 a0001c0001t0042g0013	1	364	0.0028	212	c.11 others(223): Show c.1182_*1183insCACATATATATGATATATATATATCACATATATA TGATATATATATATCACATATATATGATATATATATATCACATATATATG ATATATATATATCACATATATATGATATATATATATCACATATATATGAT ACATATATATCACATATATATGATACATATATATCACATATATATGATAC ATATATATCACATATATATGATATATAT	MTMR12	ENSG00000150712.11	transcript	ENST00000382142.8	protein_coding	16/16	1182		chr5	TogoVar
MYEOV_chr11_69289155_69302287	69301144	C C	CGCTTCTA others(205): Show CGCTTCTAGCAGAGACCGTGATGGGGCTCGCTCGGGATATGGGCAATGTG AGACGCTTCTAGCAGAGACTGTGATGGGGCTCGCTTGGGATATGGGTAAT GTGAGATGCTTCTAGCAGAGACCGTGATGGGGCTCGCTCGGGATATGGGC AATGTGAGACGCTTCTAGCAGAGACTGTGATGGGGCTTGCTTGGGATATG GGTAATGTGAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0001 a0004c0004t0003g0001	2	414	0.0048	212	c.47 others(223): Show c.4752_*4753insGCTTCTAGCAGAGACCGTGATGGGGCTCGCTCGG GATATGGGCAATGTGAGACGCTTCTAGCAGAGACTGTGATGGGGCTCGCT TGGGATATGGGTAATGTGAGATGCTTCTAGCAGAGACCGTGATGGGGCTC GCTCGGGATATGGGCAATGTGAGACGCTTCTAGCAGAGACTGTGATGGGG CTTGCTTGGGATATGGGTAATGTGAGAT	MYEOV	ENSG00000172927.9	transcript	ENST00000441339.3	protein_coding		3858		chr11	TogoVar
MYH9_chr22_36276280_36392967	36317049	G G	GCCCGATC others(205): Show GCCCGATCTCATCAAAATAAGGCAGCAGTCTACGGCCATACCACCCTAAA TGCACCCGATCTCATCAAAATAAGGCAGCAGTCTACGGCCATACCACCCT AAACGCGCCCAATCTCATCAAAATAAGGCAGCAGTCTACGGCCATACCAC CCTAAACGCGCCCAATCTCATCAAAATAAGGCAGCAGTCTACGGCCATAC CACCCTAAATGCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0216 a0001c0005t0006g0216	1	242	0.0041	212	c.122 others(229): Show c.1228-381_1228-380insTGCATTTAGGGTGGTATGGCCGTAGACT GCTGCCTTATTTTGATGAGATTGGGCGCGTTTAGGGTGGTATGGCCGTAG ACTGCTGCCTTATTTTGATGAGATTGGGCGCGTTTAGGGTGGTATGGCCG TAGACTGCTGCCTTATTTTGATGAGATCGGGTGCATTTAGGGTGGTATGG CCGTAGACTGCTGCCTTATTTTGATGAGATCGGG	MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	11/40			chr22	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(205): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAATGATGGTGGTG ACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGAT GGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG01106.hp2 others(18): Show HG00621.hp2 HG00642.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01516.hp2 HG01517.hp2 HG02040.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG04228.hp1 NA18944.hp2 NA18968.hp1 NA18975.hp2 NA19054.hp1 NA19064.hp2 NA19086.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0021 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0021 a0001c0001t0029 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0067 a0003c0003t0004	a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0054 others(18): Show a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0091 a0001c0001t0002g0140 a0001c0001t0002g0158 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0218 a0001c0001t0002g0225 a0001c0001t0009g0341 a0001c0001t0021g0033 a0001c0001t0021g0034 a0001c0001t0029g0144 a0001c0001t0029g0145 a0002c0002t0001g0249 a0002c0002t0002g0247 a0002c0002t0003g0252 a0002c0002t0067g0005 a0003c0003t0004g0363	21	384	0.0547	212	c.160 others(229): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCA CCACCACCATCACCACCACCACCATCACCACCACCACCATCGCCGCCACC ACCACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(205): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTG ACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGAT GGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0354 a0001c0001t0004g0354	1	384	0.0026	212	c.160 others(229): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACGACTACCACCACCACCACCACTACTGCCACCGCCGCCA CCACCACCATCACCACCACCACCATCACCACCACCACCATCGCCGCCACC ACCACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYOM2_chr8_2040046_2150456	2085671	G G	GCCTCCCA others(205): Show GCCTCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTG CGTGGCTTCCCACTGTTGTGATCTCTGCATGGCCCCCCACTGTCATGATC TCTGTGTGGCCCACCGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTCGT GATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTC ATGATCTCTGGCA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0074 a0074	a0074c0063 a0074c0063	a0074c0063t0001 a0074c0063t0001	a0074c0063t0001g0205 a0074c0063t0001g0205	1	403	0.0025	212	c.164 others(229): Show c.1644+283_1644+284insTCCCACTGTCGTGATCTCCGCGTGGCCC CCCACAGTCGTGATCTCTGCGTGGCTTCCCACTGTTGTGATCTCTGCATG GCCCCCCACTGTCATGATCTCTGTGTGGCCCACCGCTGTCGTGATCTCCG CGTGGCCCCTCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATC TCTGCGTGGCCCCACTGTCATGATCTCTGGCACC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYRFL_chr12_69820227_69964097	69891637	T T	TTCTCTTT others(205): Show TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0261 a0002c0002t0003g0261	1	322	0.0031	212	c.903 others(227): Show c.903+472_903+473insCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(205): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCT CCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTT CCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCT CCCCTCTCCCTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0017 a0002c0008t0017	a0002c0008t0017g0131 a0002c0008t0017g0131	1	223	0.0045	212	c.289 others(229): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCCCCTCCCCCTCCC CTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTTCCCCTCCCCTCTCCCTTCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NARF_chr17_82453741_82495537	82482420	T T	TAAAACAT others(205): Show TAAAACATGCGCGGTGGGCTGTTGACAAAATAAAACATGCGCGGTGGGCT GTTGACAAAATAAAACATGCCCGGTGGGCTGTTGACAAAATAAAACATGC GCGGTGGGCTGTTGACAAAATAAAACATGCGCGGTGGGCTGTTGACAAAA TAAAACATGCGCGGTGGGCTGTTGACAAAATAAAAACATGCGCGGTGGGC TGTTGACAAAATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02559.hp2 others(10): Show HG02145.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0014 a0001c0002t0003 a0001c0002t0014	a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0237 others(3): Show a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0014g0013	13	356	0.0365	212	c.769 others(229): Show c.769+1230_769+1231insTGACAAAATAAAACATGCGCGGTGGGCT GTTGACAAAATAAAACATGCCCGGTGGGCTGTTGACAAAATAAAACATGC GCGGTGGGCTGTTGACAAAATAAAACATGCGCGGTGGGCTGTTGACAAAA TAAAACATGCGCGGTGGGCTGTTGACAAAATAAAAACATGCGCGGTGGGC TGTTGACAAAATAAAAACATGCGCGGTGGGCTGT	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
NFILZ_chr19_8625633_8686151	8656329	C C	CACCTTCT others(205): Show CACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAG CCCACCTTCTCCTCGAAGCCCACCTTCTCCCTGAAGCCCACCTTCTCCCG CAGCCCACCTTCTCTCTGAAACCCACCTCCTCCCACAGCCCACCTCCTCC CTGAAGCCCACCTTCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTC CTCCCGCAGCGCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0130 a0010c0009t0130	a0010c0009t0130g0135 a0010c0009t0130g0135	1	366	0.0027	212	c.-16 others(233): Show c.-163-18222_-163-18221insACCTTCTCCCGCAGCCCACCTTCT CTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCT TCTCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCA CCTCCTCCCACAGCCCACCTCCTCCCTGAAGCCCACCTTCTCCCTGAAGC CCACCTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCA	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5			chr19	TogoVar

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