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
MYOCD_chr17_12660890_12773949	12697359	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0015 a0001c0006t0015	a0001c0006t0015g0229 a0001c0006t0015g0229	1	346	0.0029	30	c.56- others(45): Show c.56-7768_56-7767insATATATATATATATATATATTTTTTTTTTT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOF_chr10_93301429_93487334	93354666	A A	ACTCTCTC others(23): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	240	0.0042	30	c.340 others(47): Show c.3404-808_3404-779dupAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	31/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93369110	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG03225.hp2 HG01109.hp2 HG01433.hp1 HG03225.hp2	a0001 a0009 a0001 a0009	a0001c0004 a0001c0005 a0009c0025 a0001c0004 a0001c0005 a0009c0025	a0001c0004t0001 a0001c0005t0001 a0009c0025t0001 a0001c0004t0001 a0001c0005t0001 a0009c0025t0001	a0001c0004t0001g0026 a0001c0005t0001g0079 a0009c0025t0001g0018 a0001c0004t0001g0026 a0001c0005t0001g0079 a0009c0025t0001g0018	3	240	0.0125	30	c.258 others(47): Show c.2589+534_2589+535insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	25/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02683.hp2 NA18522.hp1 HG00673.hp1 HG02683.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0003 a0001c0001t0001 a0001c0002t0001 a0001c0004t0003	a0001c0001t0001g0056 a0001c0002t0001g0130 a0001c0004t0003g0232 a0001c0001t0001g0056 a0001c0002t0001g0130 a0001c0004t0003g0232	3	240	0.0125	30	c.200 others(49): Show c.2001+1169_2001+1170insTATATATATATATATATATATATACA CACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0072 a0001c0018t0001g0072	1	240	0.0042	30	c.200 others(49): Show c.2001+1169_2001+1170insTATATATATATATATATATATACACA CACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93406288	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01433.hp2 others(6): Show HG01192.hp1 HG01192.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01978.hp2 HG02523.hp2 HG02683.hp2 HG06807.hp1	a0001 a0023 a0001 a0023	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0023c0061	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0023c0061t0001	a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0073 others(6): Show a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0131 a0001c0002t0001g0106 a0001c0003t0001g0116 a0001c0003t0001g0134 a0023c0061t0001g0081	9	240	0.0375	30	c.730 others(47): Show c.730-2070_730-2069insTATATATATATATATATATATATATATA TA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93482857	A A	ATAAATAA others(23): Show ATAAATAATTATATATATATATATAAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0020 a0020	a0020c0028 a0020c0028	a0020c0028t0006 a0020c0028t0006	a0020c0028t0006g0121 a0020c0028t0006g0121	1	240	0.0042	30	c.-66 others(39): Show c.-664_-663insATTATTTATATATATATATATAATTATTTA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		524		chr10	TogoVar
MYOM1_chr18_3061807_3224968	3064534	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0011 a0011	a0011c0146 a0011c0146	a0011c0146t0003 a0011c0146t0003	a0011c0146t0003g0204 a0011c0146t0003g0204	1	330	0.0030	30	c.27 others(41): Show c.2727_*2728insTATATATATATATATATATATATATATATA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding		2272		chr18	TogoVar
MYOM1_chr18_3061807_3224968	3064534	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0015 a0018 a0015 a0018	a0015c0030 a0018c0053 a0015c0030 a0018c0053	a0015c0030t0003 a0018c0053t0001 a0015c0030t0003 a0018c0053t0001	a0015c0030t0003g0174 a0018c0053t0001g0136 a0015c0030t0003g0174 a0018c0053t0001g0136	2	330	0.0061	30	c.27 others(41): Show c.2727_*2728insTATATATATATATATATATATATATATAAA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding		2272		chr18	TogoVar
MYOM2_chr8_2040046_2150456	2120689	A A	ATATATAT others(23): Show ATATATATATATAAATATATATTTATAATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp1 NA19240.hp2 HG02451.hp1 HG03453.hp1 NA19240.hp2	a0030 a0098 a0030 a0098	a0030c0191 a0030c0192 a0098c0111 a0030c0191 a0030c0192 a0098c0111	a0030c0191t0001 a0030c0192t0001 a0098c0111t0001 a0030c0191t0001 a0030c0192t0001 a0098c0111t0001	a0030c0191t0001g0056 a0030c0192t0001g0059 a0098c0111t0001g0194 a0030c0191t0001g0056 a0030c0192t0001g0059 a0098c0111t0001g0194	3	403	0.0074	30	c.345 others(49): Show c.3454-2563_3454-2562insTATATATATATAAATATATATTTATA ATAT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36			chr8	TogoVar
MYOM3_chr1_24051041_24117135	24067354	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00609.hp1 others(7): Show HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG02683.hp1 NA18949.hp2 NA18953.hp2 NA18957.hp2 NA18961.hp2 NA18968.hp1	a0002 a0003 a0026 others(1): Show a0002 a0003 a0026 a0059	a0002c0001 a0003c0003 a0003c0014 others(2): Show a0002c0001 a0003c0003 a0003c0014 a0026c0040 a0059c0071	a0002c0001t0001 a0003c0003t0001 a0003c0014t0001 others(2): Show a0002c0001t0001 a0003c0003t0001 a0003c0014t0001 a0026c0040t0001 a0059c0071t0001	a0002c0001t0001g0091 a0002c0001t0001g0331 a0002c0001t0001g0333 others(7): Show a0002c0001t0001g0091 a0002c0001t0001g0331 a0002c0001t0001g0333 a0003c0003t0001g0200 a0003c0003t0001g0260 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0014t0001g0166 a0026c0040t0001g0241 a0059c0071t0001g0163	10	364	0.0275	30	c.335 others(47): Show c.3356-267_3356-266insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	27/36			chr1	TogoVar
MYOM3_chr1_24051041_24117135	24113430	T T	TTTCTTTC others(23): Show TTTCTTTCTTTCTTTTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0001 a0009c0022t0001	a0009c0022t0001g0351 a0009c0022t0001g0351	1	364	0.0028	30	c.-14 others(41): Show c.-1419_-1418insGGAAAGAAAGAAAGAAAAAGAAAGAAAGAA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding		1296		chr1	TogoVar
MYOZ3_chr5_150656251_150684368	150675226	T T	TTGTGTGC others(23): Show TTGTGTGCGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0092 a0002c0002t0006g0092	1	394	0.0025	30	c.588 others(47): Show c.588-1475_588-1474insCGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	MYOZ3	ENSG00000164591.14	transcript	ENST00000517768.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
MYRIP_chr3_39804609_40265321	40060596	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp2 NA18906.hp1 others(2): Show HG02559.hp1 HG03130.hp2 NA18906.hp1 NA18964.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0012 a0003c0007 a0001c0001 a0002c0012 a0003c0007	a0001c0001t0005 a0002c0012t0006 a0003c0007t0001 a0001c0001t0005 a0002c0012t0006 a0003c0007t0001	a0001c0001t0005g0137 a0002c0012t0006g0087 a0002c0012t0006g0091 others(2): Show a0001c0001t0005g0137 a0002c0012t0006g0087 a0002c0012t0006g0091 a0002c0012t0006g0092 a0003c0007t0001g0064	5	170	0.0294	30	c.332 others(49): Show c.332+16347_332+16348insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651407	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(20): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG01516.hp1 HG02040.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03239.hp1 HG03927.hp1 NA18612.hp2 NA18940.hp1 NA18944.hp2 NA18962.hp2 NA18969.hp2 NA18977.hp2 NA18991.hp2 NA19011.hp1 NA19058.hp1 NA19078.hp2 NA19084.hp1 NA19085.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0021 a0001c0001t0034 a0001c0001t0052 a0003c0003t0012	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 others(19): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0004g0145 a0001c0001t0004g0202 a0001c0001t0008g0180 a0001c0001t0008g0188 a0001c0001t0008g0191 a0001c0001t0009g0229 a0001c0001t0018g0185 a0001c0001t0018g0216 a0001c0001t0021g0192 a0001c0001t0034g0148 a0001c0001t0052g0143 a0003c0003t0012g0364 a0003c0003t0012g0368 a0003c0003t0012g0369	23	410	0.0561	30	c.85 others(41): Show c.8589_*8590insACACACACACACACACACACACACACACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3335		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698084	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0020 a0003c0003t0020	a0003c0003t0020g0345 a0003c0003t0020g0345	1	410	0.0024	30	c.68+ others(45): Show c.68+1900_68+1901insTATATATATATATATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0259 a0002c0005t0016g0259	1	410	0.0024	30	c.68+ others(45): Show c.68+1882_68+1883insAAAAAAAAAATATATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	1798139	A A	ATCCGGCA others(23): Show ATCCGGCACAGGCGCGGCGGTCTCCCTCTTC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0005 a0001c0020t0005	a0001c0020t0005g0081 a0001c0020t0005g0081	1	104	0.0096	30	c.327 others(49): Show c.3276+3556_3276+3557insGAAGAGGGAGACCGCCGCGCCTGTGC CGGA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	23/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1811370	A A	ATCATCAG others(23): Show ATCATCAGCTCTGGCGTCATCAGCTCTGGCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03209.hp1 HG02257.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0025 a0001c0003 a0001c0025	a0001c0003t0010 a0001c0025t0005 a0001c0003t0010 a0001c0025t0005	a0001c0003t0010g0096 a0001c0025t0005g0019 a0001c0003t0010g0096 a0001c0025t0005g0019	2	104	0.0192	30	c.308 others(49): Show c.3081-2233_3081-2204dupCGCCAGAGCTGATGACGCCAGAGCTG ATGA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	21/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1934307	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03453.hp1 HG00673.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0008 a0001c0001t0001 a0001c0009t0008	a0001c0001t0001g0025 a0001c0009t0008g0007 a0001c0001t0001g0025 a0001c0009t0008g0007	2	104	0.0192	30	c.505 others(47): Show c.505+8674_505+8675insGTGTATATATATATATATATATATATAT AT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	9/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2059357	G G	GCAGTAAG others(23): Show GCAGTAAGCACCCGACGGTCTCGCGGCACCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG02647.hp2 others(2): Show HG02559.hp1 HG02647.hp1 HG02647.hp2 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0024	a0001c0001t0010 a0001c0003t0010 a0001c0003t0017 others(2): Show a0001c0001t0010 a0001c0003t0010 a0001c0003t0017 a0001c0004t0012 a0001c0024t0020	a0001c0001t0010g0034 a0001c0003t0010g0096 a0001c0003t0017g0014 others(2): Show a0001c0001t0010g0034 a0001c0003t0010g0096 a0001c0003t0017g0014 a0001c0004t0012g0066 a0001c0024t0020g0064	5	104	0.0481	30	c.-30 others(49): Show c.-303-5235_-303-5234insTGGTGCCGCGAGACCGTCGGGTGCTT ACTG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	3/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2165877	T T	TAAAATCT others(23): Show TAAAATCTTTTATTTTTCTACTTTGTAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0074 a0001c0005t0011g0074	1	104	0.0096	30	c.-30 others(49): Show c.-304+6965_-304+6994dupTTTTTACAAAGTAGAAAAATAAAAGA TTTT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	3/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262915	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19055.hp1 HG02922.hp2 NA19055.hp1	a0001 a0001	a0001c0013 a0001c0023 a0001c0013 a0001c0023	a0001c0013t0001 a0001c0023t0003 a0001c0013t0001 a0001c0023t0003	a0001c0013t0001g0038 a0001c0023t0003g0057 a0001c0013t0001g0038 a0001c0023t0003g0057	2	104	0.0192	30	c.-42 others(51): Show c.-421+21488_-421+21489insATATATATATATATATATATATAT ATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262939	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG02559.hp1 HG02717.hp2	a0001 a0001	a0001c0013 a0001c0024 a0001c0013 a0001c0024	a0001c0013t0019 a0001c0024t0020 a0001c0013t0019 a0001c0024t0020	a0001c0013t0019g0065 a0001c0024t0020g0064 a0001c0013t0019g0065 a0001c0024t0020g0064	2	104	0.0192	30	c.-42 others(51): Show c.-421+21464_-421+21465insATATATATATATATATATATATAT ATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2295565	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGACAGACAGACAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02257.hp2 HG02818.hp2 others(7): Show HG00438.hp2 HG02257.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG06807.hp1 NA18945.hp1 NA18971.hp1 NA18990.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0015 a0001c0025 a0002c0010	a0001c0001t0001 a0001c0004t0001 a0001c0004t0013 others(5): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0013 a0001c0005t0024 a0001c0009t0022 a0001c0015t0001 a0001c0025t0005 a0002c0010t0003	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 others(7): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0004t0001g0040 a0001c0004t0013g0044 a0001c0005t0024g0063 a0001c0009t0022g0062 a0001c0015t0001g0015 a0001c0025t0005g0019 a0002c0010t0003g0039	10	104	0.0962	30	c.-52 others(51): Show c.-520-11092_-520-11063dupCTGTCTGTCTGTCTCTCTCTCTCT CTCTCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64170884	T T	TATATAGA others(23): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	223	0.0045	30	c.-99 others(47): Show c.-99+6146_-99+6147insTATAGAGAGAGAGAGAGAGAGAGAGAGA GA	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64177536	C C	CGGGGCGG others(23): Show CGGGGCGGGGACAAGAGGGCACCCCTCTCCG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02602.hp1 HG03669.hp2 others(2): Show HG02129.hp2 HG02602.hp1 HG03669.hp2 HG04228.hp2 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0018 a0001c0004t0004 a0001c0007t0001 a0001c0002t0018 a0001c0004t0004 a0001c0007t0001	a0001c0002t0018g0035 a0001c0004t0004g0031 a0001c0004t0004g0033 others(2): Show a0001c0002t0018g0035 a0001c0004t0004g0031 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0007t0001g0036	5	223	0.0224	30	c.-98 others(49): Show c.-98-12498_-98-12497insGGGGGCGGGGACAAGAGGGCACCCCT CTCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(23): Show GCATGCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01168.hp2 HG01169.hp2 HG00735.hp1 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175	3	352	0.0085	30	c.75+ others(45): Show c.75+1081_75+1082insTGCGCGCGCGCGCACACACACACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(23): Show GCATGCGCGCGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02004.hp2 HG02145.hp2 others(6): Show HG00621.hp1 HG02004.hp2 HG02145.hp2 HG02647.hp2 HG03139.hp1 HG03516.hp1 NA18747.hp1 NA19043.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 others(6): Show a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0003t0001g0228	9	352	0.0256	30	c.75+ others(45): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCACACACACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(23): Show GCATGCGCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	352	0.0028	30	c.75+ others(45): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCACACACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(23): Show GCATGCGCGCGCGCGCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	352	0.0028	30	c.75+ others(45): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCGCACACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57593188	G G	GCATGCGC others(23): Show GCATGCGCGCGCGCGCGCGCGCGCGCACACA	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA19030.hp1 HG02273.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0308 a0001c0001t0002g0309	2	352	0.0057	30	c.75+ others(45): Show c.75+1081_75+1082insTGCGCGCGCGCGCGCGCGCGCGCACACACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57616822	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	352	0.0028	30	c.163 others(47): Show c.163-1186_163-1185insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57686306	A A	AATTTTAA others(23): Show AATTTTAAATTTAAAGGATACCAGGGACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	352	0.0028	30	c.18 others(41): Show c.1808_*1809insATTTTAAATTTAAAGGATACCAGGGACCAT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		943		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688557	T T	TATATATA others(23): Show TATATATACTCTATATGTGTACAATGTGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01168.hp1 others(3): Show HG00099.hp2 HG00741.hp1 HG01168.hp1 HG01175.hp2 HG01358.hp2 HG01978.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0008 a0001c0001 a0001c0003 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0004c0008t0003	a0001c0001t0001g0269 a0001c0001t0002g0034 a0001c0001t0002g0307 others(3): Show a0001c0001t0001g0269 a0001c0001t0002g0034 a0001c0001t0002g0307 a0001c0003t0002g0030 a0001c0003t0002g0033 a0004c0008t0003g0134	6	352	0.0171	30	c.40 others(41): Show c.4059_*4060insATATATACTCTATATGTGTACAATGTGCAC	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3194		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688674	G G	GCACATAT others(23): Show GCACATATATACTCTATATGTGTACAATGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02040.hp1 HG02056.hp1 others(4): Show HG00423.hp1 HG02040.hp1 HG02056.hp1 HG02258.hp2 NA18979.hp2 NA18988.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0261 a0001c0001t0001g0273 others(4): Show a0001c0001t0001g0165 a0001c0001t0001g0261 a0001c0001t0001g0273 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0300	7	352	0.0199	30	c.41 others(41): Show c.4176_*4177insCACATATATACTCTATATGTGTACAATGTA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3311		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688966	A A	AATATATG others(23): Show AATATATGTGTACAATGTACACATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0326 a0001c0001t0007g0328 a0001c0001t0007g0326 a0001c0001t0007g0328	2	352	0.0057	30	c.44 others(41): Show c.4468_*4469insATATATGTGTACAATGTACACATATATAAT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3603		chr15	TogoVar
MZT1_chr13_72703367_72732629	72724752	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	384	0.0026	30	c.79+ others(45): Show c.79+2771_79+2772insCACACATATATATATATATATATATATATA	MZT1	ENSG00000204899.6	transcript	ENST00000377818.4	protein_coding	1/2			chr13	TogoVar
N4BP2L2_chr13_32505292_32543795	32540970	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 NA18906.hp2 HG02559.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0005 a0002c0007t0009 a0001c0001t0005 a0002c0007t0009	a0001c0001t0005g0043 a0002c0007t0009g0273 a0001c0001t0005g0043 a0002c0007t0009g0273	2	394	0.0051	30	c.-23 others(41): Show c.-2354_-2353insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding		2176		chr13	TogoVar
NAA15_chr4_139296505_139396384	139314998	C C	CAGTTCAG others(23): Show CAGTTCAGTTCAGTTTAGTTTAGTTTAGTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0213 a0001c0001t0027g0213	1	334	0.0030	30	c.54+ others(47): Show c.54+13171_54+13172insCAGTTCAGTTTAGTTTAGTTTAGTTTAG TT	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139314998	C C	CAGTTCAG others(23): Show CAGTTCAGTTTAGTTTAGTTTAGTTTAGTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02809.hp1 NA18967.hp2 HG00323.hp2 HG02809.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0214 a0001c0001t0003g0109 a0001c0001t0010g0098 a0001c0001t0001g0214 a0001c0001t0003g0109 a0001c0001t0010g0098	3	334	0.0090	30	c.54+ others(47): Show c.54+13171_54+13172insCAGTTTAGTTTAGTTTAGTTTAGTTTAG TT	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139314998	C C	CAGTTTAG others(23): Show CAGTTTAGTTTAGTTTAGTTTAGTTTAGTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01109.hp1 others(37): Show HG00099.hp1 HG01069.hp1 HG01109.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG02109.hp2 HG02155.hp2 HG02280.hp1 HG02602.hp1 HG02698.hp1 HG02895.hp1 HG02897.hp1 HG03209.hp1 HG03669.hp2 HG03688.hp2 NA18612.hp1 NA18940.hp2 NA18945.hp2 NA18946.hp2 NA18959.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18978.hp1 NA18981.hp1 NA18985.hp2 NA18988.hp2 NA18994.hp1 NA19000.hp2 NA19001.hp2 NA19055.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 a0001c0001t0029	a0001c0001t0001g0295 a0001c0001t0002g0131 a0001c0001t0003g0001 others(36): Show a0001c0001t0001g0295 a0001c0001t0002g0131 a0001c0001t0003g0001 a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0329 a0001c0001t0007g0137 a0001c0001t0007g0173 a0001c0001t0010g0162 a0001c0001t0010g0176 a0001c0001t0010g0178 a0001c0001t0013g0139 a0001c0001t0015g0132 a0001c0001t0015g0133 a0001c0001t0024g0099 a0001c0001t0029g0128	40	334	0.1198	30	c.54+ others(47): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGTTTAGTTTAGTTT AG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTT others(23): Show TTTAGTTTAGTTTAGGTTAGGTTAGGTTAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02015.hp2 HG02040.hp1 HG00558.hp2 HG02015.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205	3	334	0.0090	30	c.54+ others(47): Show c.54+13179_54+13180insTTTAGTTTAGGTTAGGTTAGGTTAGGTT AG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTT others(23): Show TTTAGTTTAGTTTAGTTTAGGTTAGGTTAGG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02273.hp1 NA19064.hp1 others(1): Show HG02004.hp2 HG02273.hp1 NA19064.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0278 a0001c0001t0002g0269 a0001c0001t0001g0005 a0001c0001t0001g0278 a0001c0001t0002g0269	4	334	0.0120	30	c.54+ others(47): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGGTTAGGTTAGGTT AG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTT others(23): Show TTTAGTTTAGTTTAGTTTAGTTTAGGTTAGG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA21309.hp1 NA19079.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0324 a0001c0001t0001g0197 a0001c0001t0001g0324	2	334	0.0060	30	c.54+ others(47): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGTTTAGGTTAGGTT AG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTT others(23): Show TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01981.hp1 HG03669.hp1 others(1): Show HG00621.hp2 HG01981.hp1 HG03669.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0286 a0001c0001t0001g0287 others(1): Show a0001c0001t0001g0265 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288	4	334	0.0120	30	c.54+ others(47): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGTTTAGTTTAGGTT AG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315046	G G	GTTAGTTT others(23): Show GTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0046 a0001c0001t0014g0046	1	334	0.0030	30	c.54+ others(47): Show c.54+13219_54+13220insTTTAGTTTAGTTTAGTTTAGTTTAGTTT AG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315051	G G	GTTAGGTT others(23): Show GTTAGGTTAGGTTAGGTTAGGTTAGTTTAGT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	334	0.0030	30	c.54+ others(47): Show c.54+13224_54+13225insGTTAGGTTAGGTTAGGTTAGTTTAGTTT AG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139385283	A A	AATATATA others(23): Show AATATATATATATATATATAATATATATTAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	334	0.0030	30	c.230 others(47): Show c.2302+322_2302+323insTAATATATATTATATATATATATATATA TA	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA16_chr13_41306267_41382030	41353113	T T	TCAAAACA others(23): Show TCAAAACAAAATAAAACAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	354	0.0028	30	c.101 others(49): Show c.1015-2021_1015-2020insTAAAACAAAACAAAACAAAACAAAAC AAAA	NAA16	ENSG00000172766.19	transcript	ENST00000379406.8	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr13	TogoVar

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