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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ENAH_chr1_225481829_225658123	225556811	TACCTTTC others(102): Show TACCTTTCATATTTCTATCCCCAATCCAACTGGAATTGATCTGTGCCTAT GGTGTGAGGTAGGGATCAAGTTTGCTATTTGTTTCAATATGGCTGTCCAA ATGATCCAGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0182 a0001c0001t0020g0182	1	306	0.0033	-109	c.172 others(17): Show c.172-1837_172-1729del		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	2/13						chr1	TogoVar
ERICH1_chr8_659200_736224	675266	GTGAGGAC others(102): Show GTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03041.hp2 HG03195.hp2 others(1): Show HG02897.hp2 HG03041.hp2 HG03195.hp2 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0002 a0001c0001t0002 a0003c0004t0002	a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 others(1): Show a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0003c0004t0002g0324	4	376	0.0106	-109	c.305 others(17): Show c.305-1328_305-1220del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675598	CGAGGACA others(102): Show CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0332	1	357	0.0028	-109	c.305 others(17): Show c.305-1660_305-1552del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ESRP1_chr8_94636174_94712466	94708929	TAATGCCA others(102): Show TAATGCCATGAATTCATAGGTTCCAGGAGCCCAGGCTTTTTTCCATTGGT TCTCACACAGTGTGCTGCTCTGGGTGGAGTGGGCTAGTGCTTCAGTTGAA CCCCGGTACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	372	0.0027	-109	c.30 others(11): Show c.3041_*3149del		ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding					1464		chr8	TogoVar
ETNPPL_chr4_108737053_108768053	108747147	TAATATAT others(102): Show TAATATATATATATATATTATATATATATATATAATATATATATATATTA TATATATATATAATATATATATATATATTATATATATATATATAATATAT ATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0293 a0002c0002t0001g0293	1	340	0.0029	-109	c.108 others(17): Show c.1083-405_1083-297del		ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12						chr4	TogoVar
EXOC3L4_chr14_103089725_103115559	103109579	TCCTCCCT others(102): Show TCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCT CCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCA TGTCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01346.hp2 HG01099.hp1 HG01346.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0003 a0004c0002t0003	a0004c0002t0003g0002 a0004c0002t0003g0094 a0004c0002t0003g0002 a0004c0002t0003g0094	2	330	0.0061	-109	c.197 others(17): Show c.1977-430_1977-322del		EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
FBLN1_chr22_45497883_45606135	45568545	CTCCTTCT others(102): Show CTCCTTCTGTAGGGCATGCTCCTTCTGTAGGAGAATGCTCCTGTAGGGGA ATGCTCCTTCTGTAAGGGAATGCTCCTCCTGTAAGGGAATGCCTCTTCTG TGGGAGAATG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG02818.hp2 others(7): Show HG02257.hp2 HG02647.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0004c0007t0001	a0001c0001t0001g0018 a0001c0001t0001g0113 a0001c0001t0001g0195 others(7): Show a0001c0001t0001g0018 a0001c0001t0001g0113 a0001c0001t0001g0195 a0001c0001t0001g0257 a0001c0001t0002g0201 a0001c0002t0001g0080 a0001c0002t0002g0314 a0001c0002t0003g0329 a0001c0004t0001g0339 a0004c0007t0001g0083	10	344	0.0291	-109	c.169 others(19): Show c.1698-5965_1698-5857del		FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16						chr22	TogoVar
FGF21_chr19_48750524_48763330	48757690	CGGGTCTG others(102): Show CGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGAACCCCGGGTCTGAGGGAG GAGGCGCTGGGGGCCTGGACTCCTGGGTCGGATGGAGGAGAAACTAGGGT CTGGACCCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01516.hp1 HG01517.hp2 HG00140.hp1 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	3	454	0.0066	-109	c.340 others(15): Show c.340-223_340-115del		FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
FUNDC2_chrX_155021844_155065304	155057012	TGAGGTCA others(102): Show TGAGGTCAGTATTGCAGGTTGGCCTCATCCTGCTAGTATGAGAACGGCTG TGAGTTCTGCCCACGGTGTGAGGCCACTGTGACCACTTGGGATTGTGCAG AGCTGGCATG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01361.hp1 HG01081.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0030 a0001c0001t0019 a0001c0001t0030	a0001c0001t0019g0108 a0001c0001t0030g0135 a0001c0001t0019g0108 a0001c0001t0030g0135	2	265	0.0075	-109	c.23 others(11): Show c.2346_*2454del		FUNDC2	ENSG00000165775.18	transcript	ENST00000369498.8	protein_coding	5/5				2346	INFO_REALIGN_3_PRIME	chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241805560	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02165.hp1 HG02486.hp2 others(4): Show HG00280.hp2 HG02165.hp1 HG02486.hp2 NA18906.hp2 NA18969.hp2 NA19088.hp2 NA19089.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0014 others(2): Show a0001c0001 a0002c0002 a0002c0014 a0003c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0014t0002 a0003c0003t0001 a0003c0007t0001	a0001c0001t0001g0187 a0001c0001t0002g0189 a0002c0002t0001g0003 others(4): Show a0001c0001t0001g0187 a0001c0001t0002g0189 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0014t0002g0014 a0003c0003t0001g0215 a0003c0007t0001g0043	7	293	0.0239	-109	c.13 others(11): Show c.1395_*1503del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1274		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805673	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02004.hp2 HG03492.hp1 HG00735.hp2 HG02004.hp2 HG03492.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0075 a0001c0001t0001g0191 a0003c0003t0001g0201 a0001c0001t0001g0075 a0001c0001t0001g0191 a0003c0003t0001g0201	3	295	0.0102	-109	c.15 others(11): Show c.1508_*1616del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1387		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805786	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	305	0.0033	-109	c.16 others(11): Show c.1621_*1729del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1500		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806536	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01952.hp1 HG01981.hp2 others(9): Show HG01169.hp2 HG01952.hp1 HG01981.hp2 HG02132.hp1 HG02135.hp2 HG03098.hp1 HG03453.hp1 NA18940.hp1 NA18948.hp2 NA19030.hp2 NA19063.hp1 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0006c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0207 a0001c0001t0002g0002 a0001c0001t0002g0189 a0002c0002t0001g0003 a0002c0002t0001g0094 a0003c0003t0001g0203 a0006c0006t0001g0003	12	285	0.0421	-109	c.23 others(11): Show c.2371_*2479del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2250		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806649	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01257.hp2 HG02040.hp2 others(3): Show HG01074.hp2 HG01257.hp2 HG02040.hp2 HG02135.hp1 HG02486.hp2 NA19089.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0007	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0007t0001	a0001c0001t0002g0148 a0002c0002t0001g0047 a0002c0002t0002g0004 others(3): Show a0001c0001t0002g0148 a0002c0002t0001g0047 a0002c0002t0002g0004 a0002c0002t0002g0122 a0003c0003t0001g0215 a0003c0007t0001g0043	6	304	0.0197	-109	c.24 others(11): Show c.2484_*2592del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2363		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806765	CCCCTCAG others(102): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	304	0.0033	-109	c.26 others(11): Show c.2600_*2708del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2479		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806879	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	285	0.0035	-109	c.27 others(11): Show c.2714_*2822del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2593		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806911	CCTTCCCT others(102): Show CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03139.hp1 HG03098.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0020 a0002c0002t0002g0011 a0001c0001t0001g0020 a0002c0002t0002g0011	2	311	0.0064	-109	c.27 others(11): Show c.2746_*2854del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2625		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806914	TCCCTCCC others(102): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	312	0.0032	-109	c.27 others(11): Show c.2749_*2857del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2628		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806974	GACCTCCG others(102): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG04199.hp2 HG03139.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0001t0001g0018 a0001c0001t0001g0051	2	302	0.0066	-109	c.28 others(11): Show c.2809_*2917del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2688		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807030	CCCCTCAG others(102): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02071.hp2 HG01261.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0164 a0001c0001t0001g0032 a0001c0001t0001g0164	2	299	0.0067	-109	c.28 others(11): Show c.2865_*2973del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2744		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807974	TCCCTCCC others(102): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCT CGGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	312	0.0032	-109	c.38 others(11): Show c.3809_*3917del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3688		chr2	TogoVar
GOLGA3_chr12_132763914_132833869	132787774	GGGACCCC others(102): Show GGGACCCCTCCCCGGAGACCACGGGACCCCTCCCCGGAGACCCCGGGACC CCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGACCCCTTCC CGAGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0038 a0002c0010t0038	a0002c0010t0038g0077 a0002c0010t0038g0077	1	305	0.0033	-109	c.281 others(18): Show c.2812-1096_2812-988del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23						chr12	TogoVar
GRAMD4_chr22_46615386_46684785	46626565	CGTGCCCT others(102): Show CGTGCCCTGCGTGTGGGAGCTGGCTCGTGGGGCTTGGAGGTGTGTGTGGG AGGGACGGTGGCAGGGCGGGGTCTCTGGGTCGGGGTTTTCTTTGGAAAGC TGGACCGGCT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02109.hp2 HG02257.hp1 others(5): Show HG01943.hp2 HG02109.hp2 HG02257.hp1 HG02647.hp2 HG02717.hp2 HG03195.hp2 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0029 a0001c0001t0054 a0001c0003t0003	a0001c0001t0003g0223 a0001c0001t0004g0220 a0001c0001t0020g0218 others(5): Show a0001c0001t0003g0223 a0001c0001t0004g0220 a0001c0001t0020g0218 a0001c0001t0020g0219 a0001c0001t0029g0039 a0001c0001t0054g0238 a0001c0003t0003g0221 a0001c0003t0003g0222	8	291	0.0275	-109	c.-49 others(14): Show c.-49-177_-49-69del		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
HINT3_chr6_125951770_125985244	125962203	TATATATA others(102): Show TATATATACACATATATATATATATATATATACACATATATATATATACA CACATATATATATATATACATACATATATATATACACATATATATATATA TATATCACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG03453.hp1 HG02922.hp2 HG03041.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012	a0001c0001t0003g0084 a0001c0001t0004g0178 a0001c0001t0012g0041 a0001c0001t0003g0084 a0001c0001t0004g0178 a0001c0001t0012g0041	3	266	0.0113	-109	c.202 others(17): Show c.202-4676_202-4568del		HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
HRH3_chr20_62209960_62225278	62213396	GAAGGAGA others(102): Show GAAGGAGAGCGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAGGGA GAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGTAAGGAGAGCGGG GATGGGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	191	0.0052	-109	c.25 others(11): Show c.2501_*2609del		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1563		chr20	TogoVar
IDI1_chr10_1034419_1054119	1047461	CTGTCTAC others(102): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG03834.hp1 others(2): Show HG01928.hp1 HG01934.hp1 HG03834.hp1 HG03927.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	5	436	0.0115	-109	c.140 others(17): Show c.140+1294_140+1402del		IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4						chr10	TogoVar
IGLON5_chr19_51306644_51335891	51311072	GGGGCCTG others(102): Show GGGGCCTGGGCTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGGCTCCAGGGTCTGAGAG AGGAGGGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02922.hp2 others(6): Show HG02055.hp1 HG02258.hp2 HG02922.hp2 NA18522.hp1 NA18944.hp1 NA18952.hp1 NA18974.hp1 NA18987.hp1 NA19000.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0048 a0001c0001t0053 a0005c0007t0002	a0001c0001t0001g0003 a0001c0001t0002g0007 a0001c0001t0002g0049 others(6): Show a0001c0001t0001g0003 a0001c0001t0002g0007 a0001c0001t0002g0049 a0001c0001t0002g0082 a0001c0001t0002g0219 a0001c0001t0015g0230 a0001c0001t0048g0128 a0001c0001t0053g0080 a0005c0007t0002g0049	9	415	0.0217	-109	c.-77 others(9): Show c.-775_-667del		IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding					571		chr19	TogoVar
IL1RL1_chr2_102306563_102357037	102318345	CTGGAGAA others(102): Show CTGGAGAAAGAGAGGTATAAGGATACCTCCAAGGATTTTGATATGTGCAG CTGAAAAAAGATGAAGTTGCCATCAACCAAGATGAGAATGATGGTTGGAA GAGCAGATTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02896.hp1 others(1): Show HG02451.hp1 HG02559.hp2 HG02896.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0021 a0002c0002t0001g0061 a0002c0002t0001g0062	4	346	0.0116	-109	c.-15 others(19): Show c.-150+6726_-150+6834del		IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
IQCA1_chr2_236319151_236512476	236491137	ATACAGTA others(102): Show ATACAGTATATATATACACACAGTATATATATATATATATATATACACAC AGTATATATATATATATATATATATACACACAGTATATATATATATATAT ATATACACAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0109 a0001c0005t0002g0109	1	200	0.0050	-109	c.456 others(17): Show c.456+2522_456+2630del		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18						chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132173680	TGTGGTGG others(102): Show TGTGGTGGTGTGTGGTGGCCTGTGGTATGTTCATGGTGGTGTGTGTGTGG TGTGTCTGTGGTGGTCTGTGGTGTGTCTCTGGTGGTCTGTGGTGTGTCTG TGATGTGTTA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02965.hp2 HG03041.hp1 others(2): Show HG01069.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0006 a0001c0048 a0003c0018 others(1): Show a0001c0006 a0001c0048 a0003c0018 a0004c0014	a0001c0006t0003 a0001c0048t0012 a0003c0018t0003 others(1): Show a0001c0006t0003 a0001c0048t0012 a0003c0018t0003 a0004c0014t0012	a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0048t0012g0100 others(2): Show a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0048t0012g0100 a0003c0018t0003g0015 a0004c0014t0012g0149	5	156	0.0321	-109	c.11 others(21): Show c.1103+4858_*1103+4966del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNIP4_chr4_20723606_21953772	21714980	TTTTATTT others(102): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	80	0.0125	-109	c.61+ others(19): Show c.61+233482_61+233590del		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KLK7_chr19_50971468_50988917	50982821	TCCTCCCT others(102): Show TCCTCCCTCAGACCTAGGAGTCCAGGTCCAAGTCCCTCCTCCCTCAGGCT CAGGAGTCCAGGCCCCAACCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC CCCAGCCCCG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01891.hp2 others(1): Show HG00735.hp2 HG01243.hp1 HG01891.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0101 a0001c0001t0002g0165 a0001c0001t0002g0040 a0001c0001t0002g0101 a0001c0001t0002g0165	4	382	0.0105	-109	c.-58 others(15): Show c.-58-473_-58-365del		KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5						chr19	TogoVar
KLK7_chr19_50971468_50988917	50982930	GCCTCCCT others(102): Show GCCTCCCTCAGACCTAGGAGTCCAGGCCCCCAGCTCCTCCTCCCTCAGAC CTAGGAGTCCAGGTCCAAGTCCCTCCTCCCTCAGGCTCAGGAGTCCAGGC CCCAACCCCT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp2 HG02486.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0158 a0001c0007t0001g0159 a0001c0002t0001g0158 a0001c0007t0001g0159	2	249	0.0080	-109	c.-58 others(15): Show c.-58-582_-58-474del		KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5						chr19	TogoVar
KRTAP4-9_chr17_41100389_41111488	41105508	CCGCCCCA others(102): Show CCGCCCCAGCTGTTGTGTATCCAGCTGCTGCAGGCCCCAGTGCTGCCAGT CTGTGTGCTGCCAACCCACTTGTTCCCGCCCCAGCTGCTGTCAGACCACC TGTTGCAGGA	C C	frameshift_variant frameshift_variant	HIGH	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	424	0.0024	-109	c.122 others(7): Show c.122_230del	p.Arg others(4): Show p.Arg41fs	KRTAP4-9	ENSG00000212722.9	transcript	ENST00000391415.2	protein_coding	1/1	122/1100	122/633	41/210		INFO_REALIGN_3_PRIME	chr17	TogoVar
LAMA2_chr6_128878138_129521566	129286650	TTTATATA others(102): Show TTTATATAATATATATAATAATATATAATATATTATATTTATATAATATA TATAATAATATATAATATATTATATAATATATTATATAATATATAATAAT ATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0031 a0004c0031	a0004c0031t0002 a0004c0031t0002	a0004c0031t0002g0005 a0004c0031t0002g0005	1	75	0.0133	-109	c.253 others(19): Show c.2538-1182_2538-1074del		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	18/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LATS2_chr13_20968036_21066586	21007579	ATATATAT others(102): Show ATATATATAGTATATATATATATAGTGTGTATATATATATATAGTGTATA TATATATATATATATAGTGTGTGTATATATATATAGTGTGTATATATATA TATAGTATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA20752.hp1 HG00741.hp2 NA20752.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0039 a0003c0005t0002g0052 a0003c0005t0002g0039 a0003c0005t0002g0052	2	311	0.0064	-109	c.343 others(19): Show c.343-16284_343-16176del		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7						chr13	TogoVar
LCN15_chr9_136754634_136769518	136769409	ACCCCGCC others(102): Show ACCCCGCCACCCCCCCATGCACTTCCCCCCCGCCACCCCGCCACCCCCCA TGCACTGCCCCCCCCGACACCCCGACACCCCCCATGCACTGCCCCCCCGC CACCCCGCCA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00642.hp2 HG00735.hp2 others(52): Show HG00544.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01993.hp1 HG02027.hp2 HG02257.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03209.hp1 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18950.hp1 NA18952.hp2 NA18960.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp2 NA19007.hp2 NA19056.hp2 NA19063.hp2 NA19066.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0061	55	331	0.1662	-109	c.-50 others(11): Show c.-5030_-4922del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4892		chr9	TogoVar
MACROD2_chr20_13990516_16058197	14831923	TGGGGATG others(102): Show TGGGGATGCATTCTGACTATATTGGGTCCCCTTGAGACCAGTGTTGCAAC CAAAAGAAGCAGAGAAGATGTAGTCCCTACCCTCCCGCACCTCGACTTCA TGCCTTTGCG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	23	0.0435	-109	c.418 others(21): Show c.418+146965_418+147073del		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17						chr20	TogoVar
MAP3K15_chrX_19355059_19520508	19452118	GAGAAGAG others(102): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAA	G G	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	157	0.0064	-109	c.995 others(17): Show c.995+4686_995+4794del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MAPK8IP2_chr22_50595793_50618978	50608356	CCAGCTCT others(102): Show CCAGCTCTGGGGTGGAAAGGTGGGACAGTGGGCAGGGGCGCAGACCAGAC AGTGGGGCCAGCTCTGGGGTCACCAGGACAGCGAACGGGGCGCAGACCAG ACAGCAGGGA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0033 a0001c0011t0033	a0001c0011t0033g0048 a0001c0011t0033g0048	1	435	0.0023	-109	c.230 others(19): Show c.2303+1381_2303+1489del		MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
MCF2L_chr13_112964214_113104742	112989460	GACATGGA others(102): Show GACATGGAGCCACCACGCCCGAGTCCTCCCTGAGCAGGGGATGGAGCTAC CACACCGGAGTCCTCCCTGAGCAGGGGATGGAGCTACCACACTGGAGTCC TCCCTGAGCA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0042 a0001c0008t0003g0042	1	114	0.0088	-109	c.79+ others(17): Show c.79+20003_79+20111del		MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29						chr13	TogoVar
MGAM_chr7_141990879_142111747	142042921	TATAATAT others(102): Show TATAATATCTAAATATAATATATATATTATATATACATATAATATCTAAA TATAATATATATATTATATATACATATAATATCTAAATATAATATATATA AAATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0001 a0005c0025t0001	a0005c0025t0001g0004 a0005c0025t0001g0004	2	299	0.0067	-109	c.249 others(19): Show c.2498+2096_2498+2204del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237544527	GGGACAGT others(102): Show GGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTT TATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTG GTGATTGGGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01433.hp2 HG02647.hp2 others(5): Show HG00280.hp2 HG01433.hp2 HG02647.hp2 HG02735.hp2 HG03540.hp2 NA18941.hp1 NA18980.hp1 NA21309.hp1	a0005 a0013 a0005 a0013	a0005c0004 a0013c0017 a0005c0004 a0013c0017	a0005c0004t0001 a0013c0017t0003 a0013c0017t0010 a0005c0004t0001 a0013c0017t0003 a0013c0017t0010	a0005c0004t0001g0013 a0005c0004t0001g0015 a0005c0004t0001g0018 others(5): Show a0005c0004t0001g0013 a0005c0004t0001g0015 a0005c0004t0001g0018 a0005c0004t0001g0019 a0005c0004t0001g0021 a0013c0017t0003g0008 a0013c0017t0003g0009 a0013c0017t0010g0250	8	277	0.0289	-109	c.153 others(19): Show c.1539+1869_1540-1970del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MYADM_chr19_53862883_53881435	53870011	CCTGGGCT others(102): Show CCTGGGCTCCTGGGTCCGAGGGAGGAGGGGCTGGGGGTCTGGACTCCGGG GTCCGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCCGAGGAAGGAG GGGCTGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02723.hp1 others(7): Show HG02109.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 others(3): Show a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0060 a0001c0001t0061	a0001c0001t0023g0008 a0001c0001t0024g0008 a0001c0001t0025g0008 others(3): Show a0001c0001t0023g0008 a0001c0001t0024g0008 a0001c0001t0025g0008 a0001c0001t0026g0016 a0001c0001t0060g0054 a0001c0001t0061g0055	10	366	0.0273	-109	c.-3+ others(13): Show c.-3+178_-3+286del		MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr19	TogoVar
MYT1_chr20_64159452_64247253	64174442	CCTGTAGT others(102): Show CCTGTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCA TCTTTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01169.hp1 others(17): Show HG00280.hp1 HG00639.hp1 HG01169.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG02004.hp1 HG02074.hp1 HG03239.hp2 HG03540.hp1 HG04184.hp1 NA18612.hp2 NA18959.hp1 NA18995.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0004c0010 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0025 a0001c0001t0026 a0001c0002t0002 a0001c0003t0007 a0001c0003t0010 a0001c0005t0003 a0004c0010t0001 a0006c0012t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(17): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0134 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0003g0060 a0001c0001t0003g0139 a0001c0001t0003g0174 a0001c0001t0011g0121 a0001c0001t0011g0124 a0001c0001t0011g0128 a0001c0001t0025g0119 a0001c0001t0026g0104 a0001c0002t0002g0138 a0001c0003t0007g0149 a0001c0003t0010g0126 a0001c0005t0003g0103 a0004c0010t0001g0032 a0006c0012t0001g0214	20	170	0.1176	-109	c.-99 others(17): Show c.-99+9704_-99+9812del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22						chr20	TogoVar
MYT1_chr20_64159452_64247253	64176192	CCTGTAGT others(102): Show CCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCA TCTTTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	219	0.0046	-109	c.-99 others(19): Show c.-99+11454_-99+11562del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22						chr20	TogoVar
NEU4_chr2_241804193_241822413	241805560	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02165.hp2 HG02486.hp1 others(4): Show HG00280.hp1 HG02165.hp2 HG02486.hp1 NA18906.hp1 NA19003.hp2 NA19030.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0003g0126 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0003g0126 a0001c0001t0003g0192 a0001c0002t0001g0031 a0001c0004t0001g0024 a0002c0003t0002g0036	7	303	0.0231	-109	c.-37 others(11): Show c.-3717_-3609del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3632		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805673	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG01168.hp2 others(3): Show HG00558.hp2 HG00735.hp2 HG01168.hp2 HG02004.hp1 HG02300.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0153 a0001c0001t0003g0188 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0153 a0001c0001t0003g0188 a0001c0002t0001g0004 a0001c0004t0001g0158	6	300	0.0200	-109	c.-36 others(11): Show c.-3604_-3496del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3519		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805786	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0124 a0002c0003t0002g0124	1	306	0.0033	-109	c.-34 others(11): Show c.-3491_-3383del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3406		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806536	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01884.hp1 others(9): Show HG01168.hp1 HG01169.hp2 HG01884.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02735.hp1 HG03098.hp2 HG03453.hp1 NA19030.hp2 NA19063.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0013 others(1): Show a0001c0001 a0001c0004 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0013t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0003g0186 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0003g0186 a0001c0004t0001g0006 a0001c0004t0001g0019 a0001c0004t0001g0049 a0001c0004t0001g0073 a0001c0004t0001g0113 a0001c0013t0001g0063 a0002c0003t0002g0018 a0002c0003t0002g0035	12	287	0.0418	-109	c.-27 others(11): Show c.-2741_-2633del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2656		chr2	TogoVar

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