Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DMD_chrX_31114222_33216549	32863509	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0124 a0017c0027t0001g0124	1	126	0.0079	16	c.94- others(33): Show c.94-13705_94-13690dupTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32863537	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0027 a0003c0003t0027	a0003c0003t0027g0091 a0003c0003t0027g0091	1	126	0.0079	16	c.94- others(33): Show c.94-13733_94-13718dupGTGTGTGTGTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32887745	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0002 a0004c0011t0002	a0004c0011t0002g0035 a0004c0011t0002g0035	1	126	0.0079	16	c.94- others(33): Show c.94-37941_94-37926dupTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32964255	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02976.hp2 NA19000.hp1 others(2): Show HG02071.hp1 HG02976.hp2 NA19000.hp1 NA19007.hp1 NA19060.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0002 a0002c0016 a0005c0057 others(1): Show a0001c0002 a0002c0016 a0005c0057 a0007c0018	a0001c0002t0001 a0001c0002t0013 a0002c0016t0001 others(2): Show a0001c0002t0001 a0001c0002t0013 a0002c0016t0001 a0005c0057t0001 a0007c0018t0001	a0001c0002t0001g0104 a0001c0002t0013g0097 a0002c0016t0001g0060 others(2): Show a0001c0002t0001g0104 a0001c0002t0013g0097 a0002c0016t0001g0060 a0005c0057t0001g0109 a0007c0018t0001g0068	5	126	0.0397	16	c.93+ others(33): Show c.93+55868_93+55883dupTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32983528	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0012 a0002c0059t0012	a0002c0059t0012g0055 a0002c0059t0012g0055	1	126	0.0079	16	c.93+ others(33): Show c.93+36595_93+36610dupGTGTGTGTGTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33009628	G G	GTATATGT others(9): Show GTATATGTGTATACGTA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0098 a0002c0012t0002g0098	1	126	0.0079	16	c.93+ others(33): Show c.93+10510_93+10511insTACGTATACACATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33045315	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01109.hp1 others(15): Show HG00642.hp1 HG00673.hp1 HG01109.hp1 HG01255.hp1 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02895.hp1 HG03486.hp1 HG04115.hp1 NA18522.hp1 NA18943.hp1 NA18955.hp1 NA18984.hp1 NA19004.hp1 NA19070.hp1 NA19085.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0009 a0016 a0024 a0030 a0031	a0001c0001 a0002c0009 a0002c0012 others(13): Show a0001c0001 a0002c0009 a0002c0012 a0002c0020 a0002c0059 a0003c0008 a0003c0014 a0003c0062 a0004c0004 a0004c0011 a0005c0053 a0009c0013 a0016c0028 a0024c0038 a0030c0037 a0031c0047	a0001c0001t0004 a0001c0001t0013 a0002c0009t0001 others(14): Show a0001c0001t0004 a0001c0001t0013 a0002c0009t0001 a0002c0012t0002 a0002c0020t0030 a0002c0059t0012 a0003c0008t0023 a0003c0014t0001 a0003c0062t0001 a0004c0004t0001 a0004c0011t0001 a0005c0053t0004 a0009c0013t0022 a0016c0028t0005 a0024c0038t0001 a0030c0037t0005 a0031c0047t0005	a0001c0001t0004g0101 a0001c0001t0013g0012 a0002c0009t0001g0065 others(15): Show a0001c0001t0004g0101 a0001c0001t0013g0012 a0002c0009t0001g0065 a0002c0012t0002g0122 a0002c0020t0030g0125 a0002c0059t0012g0055 a0003c0008t0023g0005 a0003c0014t0001g0059 a0003c0062t0001g0078 a0004c0004t0001g0064 a0004c0004t0001g0083 a0004c0011t0001g0085 a0005c0053t0004g0103 a0009c0013t0022g0066 a0016c0028t0005g0028 a0024c0038t0001g0053 a0030c0037t0005g0082 a0031c0047t0005g0081	18	126	0.1429	16	c.32- others(33): Show c.32-25131_32-25116dupGTGTGTGTGTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33051646	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0011 a0002c0024t0011	a0002c0024t0011g0016 a0002c0024t0011g0016	1	126	0.0079	16	c.32- others(33): Show c.32-31462_32-31447dupAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33070639	A A	ATCTCTCT others(9): Show ATCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0019 a0019	a0019c0033 a0019c0033	a0019c0033t0001 a0019c0033t0001	a0019c0033t0001g0089 a0019c0033t0001g0089	1	126	0.0079	16	c.32- others(33): Show c.32-50455_32-50440dupGAGAGAGAGAGAGAGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01433.hp1 others(5): Show HG00738.hp1 HG01069.hp1 HG01433.hp1 HG02976.hp1 NA18948.hp1 NA18965.hp1 NA18982.hp1 NA19062.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0008 a0023 a0025 a0036	a0001c0001 a0002c0009 a0004c0004 others(4): Show a0001c0001 a0002c0009 a0004c0004 a0008c0010 a0023c0041 a0025c0039 a0036c0021	a0001c0001t0016 a0002c0009t0002 a0004c0004t0001 others(5): Show a0001c0001t0016 a0002c0009t0002 a0004c0004t0001 a0004c0004t0002 a0008c0010t0001 a0023c0041t0001 a0025c0039t0003 a0036c0021t0017	a0001c0001t0016g0038 a0002c0009t0002g0002 a0004c0004t0001g0041 others(5): Show a0001c0001t0016g0038 a0002c0009t0002g0002 a0004c0004t0001g0041 a0004c0004t0002g0086 a0008c0010t0001g0042 a0023c0041t0001g0046 a0025c0039t0003g0075 a0036c0021t0017g0009	8	126	0.0635	16	c.32- others(33): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33163552	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp1 HG02451.hp1 HG02976.hp1	a0002 a0018 a0002 a0018	a0002c0009 a0018c0061 a0002c0009 a0018c0061	a0002c0009t0002 a0018c0061t0001 a0002c0009t0002 a0018c0061t0001	a0002c0009t0002g0002 a0018c0061t0001g0003 a0002c0009t0002g0002 a0018c0061t0001g0003	2	126	0.0159	16	c.31+ others(33): Show c.31+47714_31+47729dupTATATATATATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33163628	C C	CTATCTAT others(9): Show CTATCTATGTATCTATG	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18612.hp1 NA18747.hp1 others(3): Show HG02135.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18995.hp1 NA19068.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0033 a0034	a0001c0001 a0003c0062 a0005c0007 others(3): Show a0001c0001 a0003c0062 a0005c0007 a0006c0032 a0033c0050 a0034c0030	a0001c0001t0001 a0003c0062t0001 a0005c0007t0007 others(3): Show a0001c0001t0001 a0003c0062t0001 a0005c0007t0007 a0006c0032t0003 a0033c0050t0001 a0034c0030t0003	a0001c0001t0001g0090 a0003c0062t0001g0078 a0005c0007t0007g0063 others(3): Show a0001c0001t0001g0090 a0003c0062t0001g0078 a0005c0007t0007g0063 a0006c0032t0003g0077 a0033c0050t0001g0119 a0034c0030t0003g0029	6	126	0.0476	16	c.31+ others(33): Show c.31+47653_31+47654insCATAGATACATAGATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMGDH_chr5_78992564_79074674	79003947	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01516.hp1 HG01517.hp2 others(14): Show HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01981.hp1 HG01993.hp1 HG02257.hp2 HG02572.hp2 HG03017.hp1 HG03669.hp1 HG03710.hp1 HG04199.hp1 HG04228.hp2 NA18962.hp1 NA18980.hp2 NA18988.hp2 NA19000.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0004 a0001c0001 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0002c0004t0001	a0001c0001t0001g0091 a0001c0001t0001g0142 a0001c0001t0001g0143 others(11): Show a0001c0001t0001g0091 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0164 a0001c0001t0001g0197 a0001c0001t0002g0013 a0001c0001t0002g0128 a0001c0010t0001g0267 a0002c0004t0001g0018 a0002c0004t0001g0019 a0002c0004t0001g0239 a0002c0004t0001g0241 a0002c0004t0001g0244 a0002c0004t0001g0246	17	372	0.0457	16	c.238 others(35): Show c.2385+1310_2385+1325dupATTTATTTATTTATTT	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	15/15			chr5	TogoVar
DMGDH_chr5_78992564_79074674	79050273	A A	AAAAAAAA others(9): Show AAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0180 a0004c0006t0001g0180	1	372	0.0027	16	c.745 others(33): Show c.745+1013_745+1014insATATATATATTTTTTT	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	5/15			chr5	TogoVar
DMP1_chr4_87645280_87669357	87653386	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp1 HG00280.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0013 a0001c0002t0003 a0001c0002t0013	a0001c0002t0003g0116 a0001c0002t0013g0126 a0001c0002t0003g0116 a0001c0002t0013g0126	2	430	0.0047	16	c.-22 others(33): Show c.-22+3034_-21-3039dupTATATATATATATATA	DMP1	ENSG00000152592.15	transcript	ENST00000339673.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
DMP1_chr4_87645280_87669357	87667382	T T	TATATATA others(9): Show TATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0002	1	430	0.0023	16	c.40 others(27): Show c.4062_*4063insATATATATATACACAC	DMP1	ENSG00000152592.15	transcript	ENST00000339673.11	protein_coding		3026		chr4	TogoVar
DMRT1_chr9_836697_974090	840722	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01256.hp1 HG01261.hp2 others(11): Show HG00735.hp1 HG01256.hp1 HG01261.hp2 HG02015.hp2 HG02055.hp1 HG02258.hp2 HG02698.hp2 HG03471.hp2 HG03669.hp1 NA19007.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0010 a0002c0002 a0002c0005 a0002c0010	a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 others(3): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0018 a0002c0005t0020 a0002c0010t0003	a0002c0002t0003g0009 a0002c0002t0003g0016 a0002c0002t0003g0017 others(11): Show a0002c0002t0003g0009 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0033 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0234 a0002c0002t0005g0038 a0002c0002t0005g0052 a0002c0002t0006g0020 a0002c0002t0018g0040 a0002c0005t0020g0022 a0002c0010t0003g0048	14	306	0.0458	16	c.-11 others(27): Show c.-1117_-1116insGTGTGTGTGTGTGTGT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding		974		chr9	TogoVar
DMRT1_chr9_836697_974090	842230	G G	GGTTTTTT others(9): Show GGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG02717.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	306	0.0065	16	c.354 others(29): Show c.354+38_354+39insGTTTTTTTTTTTTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	1/4			chr9	TogoVar
DMRT1_chr9_836697_974090	870709	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02965.hp2 others(2): Show HG02109.hp2 HG02630.hp2 HG02965.hp2 HG02970.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0126 a0001c0001t0002g0120 a0001c0001t0002g0131 others(2): Show a0001c0001t0001g0126 a0001c0001t0002g0120 a0001c0001t0002g0131 a0001c0001t0004g0117 a0001c0001t0004g0130	5	306	0.0163	16	c.539 others(35): Show c.539-23198_539-23183dupTTTTTTTTTTTTTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT2_chr9_1045357_1062552	1060726	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01106.hp2 others(28): Show HG00099.hp2 HG00597.hp1 HG01106.hp2 HG01255.hp1 HG01978.hp2 HG02015.hp1 HG02071.hp1 HG02074.hp2 HG02135.hp2 HG02293.hp1 HG02615.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 NA18942.hp1 NA18946.hp1 NA18951.hp1 NA18960.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp1 NA18977.hp2 NA19000.hp2 NA19003.hp2 NA19056.hp2 NA19057.hp1 NA19070.hp1 NA19091.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0020 a0003c0004	a0001c0002t0002 a0001c0002t0008 a0001c0003t0005 others(4): Show a0001c0002t0002 a0001c0002t0008 a0001c0003t0005 a0001c0003t0031 a0002c0001t0001 a0002c0020t0001 a0003c0004t0011	a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0007 others(9): Show a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0008g0002 a0001c0003t0005g0005 a0001c0003t0031g0079 a0002c0001t0001g0001 a0002c0001t0001g0014 a0002c0001t0001g0034 a0002c0001t0001g0058 a0002c0020t0001g0021 a0003c0004t0011g0003	31	488	0.0635	16	c.34 others(27): Show c.3453_*3454insTTTTTTTTTTTTTTTT	DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding		3175		chr9	TogoVar
DMRTB1_chr1_53454399_53472488	53458065	G G	GAGAGAGA others(9): Show GAGAGAGACAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	394	0.0025	16	c.-13 others(27): Show c.-1389_-1388insAGAGAGACAGAGAGAC	DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding		1333		chr1	TogoVar
DMRTB1_chr1_53454399_53472488	53458073	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 NA18906.hp2 HG02809.hp2 NA18906.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0014 a0001c0001 a0010c0014	a0001c0001t0002 a0010c0014t0001 a0001c0001t0002 a0010c0014t0001	a0001c0001t0002g0006 a0010c0014t0001g0008 a0001c0001t0002g0006 a0010c0014t0001g0008	2	394	0.0051	16	c.-13 others(27): Show c.-1381_-1380insAGAGAGAGAGAGAGAG	DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding		1325		chr1	TogoVar
DMTN_chr8_22051814_22087525	22079269	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA21309.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0078 a0001c0003t0002g0028 a0001c0001t0003g0078 a0001c0003t0002g0028	2	324	0.0062	16	c.836 others(31): Show c.836-908_836-907insTATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAAATA others(9): Show AATAAATAAATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18974.hp1 HG03688.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0188 a0001c0001t0001g0059 a0001c0001t0001g0188	2	324	0.0062	16	c.836 others(31): Show c.836-900_836-899insAATAAATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAAATA others(9): Show AATAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01074.hp1 HG01515.hp2 others(9): Show HG00544.hp2 HG01074.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp1 HG03130.hp2 HG03669.hp2 HG03831.hp2 NA18522.hp1 NA18939.hp1 NA19011.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0065 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0255 a0001c0001t0001g0283	12	324	0.0370	16	c.836 others(31): Show c.836-900_836-899insAATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079299	T T	TATATATA others(9): Show TATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	324	0.0031	16	c.836 others(31): Show c.836-879_836-878insATATATATATATAAAT	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMXL1_chr5_119066087_119254127	119089277	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0024 a0024	a0024c0034 a0024c0034	a0024c0034t0001 a0024c0034t0001	a0024c0034t0001g0125 a0024c0034t0001g0125	1	238	0.0042	16	c.88- others(31): Show c.88-8701_88-8686dupATATATATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089292	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	238	0.0042	16	c.88- others(31): Show c.88-8686_88-8685insATATATATATATATTT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119123321	G G	GGGGAGAG others(9): Show GGGGAGAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	238	0.0042	16	c.110 others(35): Show c.1102+2191_1102+2192insGAGAGGAGGGAGAGGG	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	9/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119123321	G G	GGGGGAGA others(9): Show GGGGGAGAGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0078 a0001c0008t0001g0078	1	238	0.0042	16	c.110 others(35): Show c.1102+2185_1102+2186insGAGAGGGAGAGGAGGG	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	9/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119123327	A A	AGGGAGAG others(9): Show AGGGAGAGGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	238	0.0042	16	c.110 others(35): Show c.1102+2191_1102+2206dupGAGAGGAGGGAGAGGG	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	9/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173668	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG03139.hp2 others(2): Show HG01891.hp1 HG02615.hp2 HG03139.hp2 HG03486.hp1 NA20129.hp2	a0001 a0026 a0001 a0026	a0001c0004 a0026c0025 a0001c0004 a0026c0025	a0001c0004t0003 a0026c0025t0003 a0001c0004t0003 a0026c0025t0003	a0001c0004t0003g0005 a0001c0004t0003g0007 a0001c0004t0003g0009 others(2): Show a0001c0004t0003g0005 a0001c0004t0003g0007 a0001c0004t0003g0009 a0001c0004t0003g0013 a0026c0025t0003g0006	5	238	0.0210	16	c.668 others(35): Show c.6682-1590_6682-1589insGTGTGTGTGTGTGTGT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18962.hp2 NA18978.hp1 others(1): Show HG02145.hp1 NA18962.hp2 NA18978.hp1 NA19060.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0013 a0001c0002 a0010c0013	a0001c0002t0001 a0001c0002t0006 a0010c0013t0001 a0001c0002t0001 a0001c0002t0006 a0010c0013t0001	a0001c0002t0001g0082 a0001c0002t0001g0121 a0001c0002t0006g0120 others(1): Show a0001c0002t0001g0082 a0001c0002t0001g0121 a0001c0002t0006g0120 a0010c0013t0001g0227	4	238	0.0168	16	c.668 others(35): Show c.6682-1478_6682-1463dupTATATATATATATATA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTGTGTGT others(9): Show GTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0013 a0012c0016t0013	a0012c0016t0013g0220 a0012c0016t0013g0220	1	238	0.0042	16	c.668 others(35): Show c.6682-1484_6682-1483insGTGTGTATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTGTGTGT others(9): Show GTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0013 a0012c0016t0013	a0012c0016t0013g0221 a0012c0016t0013g0221	1	238	0.0042	16	c.668 others(35): Show c.6682-1484_6682-1483insGTGTGTGTATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119219556	A A	AATTTATT others(9): Show AATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0007 a0009c0010t0007	a0009c0010t0007g0004 a0009c0010t0007g0004	1	238	0.0042	16	c.801 others(33): Show c.8014-913_8014-912insTATTTATTTATTTATT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	35/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51502306	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02683.hp1 HG01167.hp2 HG01169.hp1 HG02683.hp1	a0002 a0002	a0002c0014 a0002c0027 a0002c0014 a0002c0027	a0002c0014t0001 a0002c0027t0001 a0002c0014t0001 a0002c0027t0001	a0002c0014t0001g0222 a0002c0014t0001g0223 a0002c0027t0001g0333 a0002c0014t0001g0222 a0002c0014t0001g0223 a0002c0027t0001g0333	3	346	0.0087	16	c.299 others(33): Show c.2992+484_2992+499dupCACACACACACACACA	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	17/43			chr15	TogoVar
DMXL2_chr15_51442791_51627771	51576183	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(19): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG01517.hp1 HG02135.hp1 HG04184.hp1 NA18952.hp2 NA18956.hp1 NA18971.hp2 NA18972.hp2 NA18986.hp1 NA18989.hp2 NA19001.hp2 NA19007.hp2 NA19009.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19088.hp1 NA19091.hp1	a0002 a0016 a0002 a0016	a0002c0002 a0002c0006 a0016c0025 a0002c0002 a0002c0006 a0016c0025	a0002c0002t0001 a0002c0002t0012 a0002c0006t0001 others(1): Show a0002c0002t0001 a0002c0002t0012 a0002c0006t0001 a0016c0025t0001	a0002c0002t0001g0219 a0002c0002t0001g0234 a0002c0002t0001g0235 others(17): Show a0002c0002t0001g0219 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0283 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0012g0339 a0002c0006t0001g0001 a0002c0006t0001g0040 a0002c0006t0001g0041 a0002c0006t0001g0042 a0002c0006t0001g0044 a0002c0006t0001g0046 a0002c0006t0001g0047 a0016c0025t0001g0253	22	346	0.0636	16	c.88- others(26): Show c.88-18_88-3dupTTTTTTTTTTTTTTTT	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	1/43			chr15	TogoVar
DNA2_chr10_68409064_68476973	68427650	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02109.hp2 HG02258.hp1 others(14): Show HG00280.hp2 HG02109.hp2 HG02258.hp1 HG02683.hp1 HG02738.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp1 NA18941.hp2 NA18989.hp2 NA19043.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0016	a0001c0002t0004 a0001c0003t0003 a0001c0004t0004 others(2): Show a0001c0002t0004 a0001c0003t0003 a0001c0004t0004 a0001c0006t0004 a0001c0016t0004	a0001c0002t0004g0008 a0001c0002t0004g0010 a0001c0003t0003g0002 others(13): Show a0001c0002t0004g0008 a0001c0002t0004g0010 a0001c0003t0003g0002 a0001c0003t0003g0055 a0001c0003t0003g0062 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0084 a0001c0004t0004g0035 a0001c0006t0004g0048 a0001c0006t0004g0049 a0001c0006t0004g0050 a0001c0006t0004g0051 a0001c0006t0004g0052 a0001c0006t0004g0088 a0001c0016t0004g0053	17	326	0.0522	16	c.220 others(35): Show c.2208+2770_2208+2785dupGTGTGTGTGTGTGTGT	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding	14/20			chr10	TogoVar
DNA2_chr10_68409064_68476973	68460030	T T	TACAAACA others(9): Show TACAAACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG03098.hp1 HG02257.hp2 HG02258.hp2 HG03098.hp1	a0001 a0009 a0001 a0009	a0001c0004 a0009c0023 a0001c0004 a0009c0023	a0001c0004t0004 a0009c0023t0004 a0001c0004t0004 a0009c0023t0004	a0001c0004t0004g0039 a0001c0004t0004g0040 a0009c0023t0004g0041 a0001c0004t0004g0039 a0001c0004t0004g0040 a0009c0023t0004g0041	3	326	0.0092	16	c.588 others(31): Show c.588-796_588-795insGTGTGTGTGTGTTTGT	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding	4/20			chr10	TogoVar
DNA2_chr10_68409064_68476973	68460030	T T	TACACACA others(9): Show TACACACACACACAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02559.hp1 others(1): Show HG02055.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0004 a0001c0002t0006 a0001c0007t0005 a0001c0002t0004 a0001c0002t0006 a0001c0007t0005	a0001c0002t0004g0013 a0001c0002t0006g0019 a0001c0007t0005g0012 others(1): Show a0001c0002t0004g0013 a0001c0002t0006g0019 a0001c0007t0005g0012 a0001c0007t0005g0014	4	326	0.0123	16	c.588 others(31): Show c.588-796_588-795insGTTTGTGTGTGTGTGT	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding	4/20			chr10	TogoVar
DNAAF11_chr8_132565416_132680545	132593328	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	276	0.0036	16	c.114 others(35): Show c.1141-9550_1141-9549insATATATATATATATAT	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	10/11			chr8	TogoVar
DNAAF11_chr8_132565416_132680545	132593332	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01433.hp1 others(19): Show HG00423.hp1 HG00621.hp1 HG01433.hp1 HG01943.hp1 HG02027.hp1 HG02135.hp2 HG02155.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03486.hp2 HG03490.hp2 HG03831.hp2 NA18941.hp1 NA18948.hp1 NA18969.hp2 NA18990.hp1 NA19062.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0004t0005	a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0110 others(18): Show a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0240 a0002c0002t0001g0249 a0002c0002t0003g0234 a0002c0002t0003g0235 a0002c0002t0003g0236 a0002c0002t0003g0252 a0002c0002t0003g0257 a0002c0004t0005g0004	22	276	0.0797	16	c.114 others(35): Show c.1141-9569_1141-9554dupATATATATATATATAT	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	10/11			chr8	TogoVar
DNAAF11_chr8_132565416_132680545	132595346	G G	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0010 a0002c0006t0001g0010	1	276	0.0036	16	c.114 others(37): Show c.1141-11568_1141-11567insTTTTTTTTTTTTTTTT	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	10/11			chr8	TogoVar
DNAAF11_chr8_132565416_132680545	132669940	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0010 a0002c0006t0001g0010	1	276	0.0036	16	c.10+ others(31): Show c.10+5528_10+5543dupTTTTTTTTTTTTTTTT	DNAAF11	ENSG00000129295.10	transcript	ENST00000620350.5	protein_coding	1/11			chr8	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTCT others(9): Show CTCTCTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp1 HG03017.hp1 others(1): Show HG01884.hp2 HG02886.hp1 HG03017.hp1 homoSapiens_chm13v2.hp1	a0005 a0024 a0005 a0024	a0005c0023 a0024c0024 a0005c0023 a0024c0024	a0005c0023t0004 a0005c0023t0009 a0024c0024t0004 a0005c0023t0004 a0005c0023t0009 a0024c0024t0004	a0005c0023t0004g0418 a0005c0023t0009g0417 a0024c0024t0004g0419 others(1): Show a0005c0023t0004g0418 a0005c0023t0009g0417 a0024c0024t0004g0419 a0024c0024t0004g0420	4	456	0.0088	16	c.125 others(31): Show c.125-410_125-409insCTCTCTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTTT others(9): Show CTCTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0025 a0025	a0025c0031 a0025c0031	a0025c0031t0001 a0025c0031t0001	a0025c0031t0001g0426 a0025c0031t0001g0426	1	456	0.0022	16	c.125 others(31): Show c.125-410_125-409insCTCTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0242 a0003c0007t0002g0242	1	456	0.0022	16	c.125 others(31): Show c.125-408_125-393dupTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84168827	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp1 HG01515.hp1 others(12): Show HG00741.hp1 HG01361.hp1 HG01515.hp1 HG02055.hp2 HG02071.hp2 HG03041.hp1 HG03834.hp1 HG04199.hp1 NA18967.hp2 NA18978.hp2 NA18984.hp2 NA19002.hp2 NA19007.hp1 NA19082.hp2 NA19083.hp1	a0002 a0003 a0006 others(3): Show a0002 a0003 a0006 a0007 a0019 a0022	a0002c0002 a0003c0007 a0006c0006 others(3): Show a0002c0002 a0003c0007 a0006c0006 a0007c0010 a0019c0030 a0022c0029	a0002c0002t0001 a0003c0007t0002 a0006c0006t0001 others(3): Show a0002c0002t0001 a0003c0007t0002 a0006c0006t0001 a0007c0010t0004 a0019c0030t0002 a0022c0029t0001	a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0212 others(12): Show a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0212 a0002c0002t0001g0279 a0002c0002t0001g0339 a0002c0002t0001g0345 a0002c0002t0001g0369 a0003c0007t0002g0354 a0006c0006t0001g0156 a0006c0006t0001g0157 a0006c0006t0001g0158 a0007c0010t0004g0410 a0007c0010t0004g0414 a0019c0030t0002g0169 a0022c0029t0001g0308	15	456	0.0329	16	c.103 others(35): Show c.1031-1017_1031-1002dupACACACACACACACAC	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF2_chr14_49620174_49640244	49630234	C C	CAAATAAA others(9): Show CAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00642.hp2 others(11): Show HG00280.hp2 HG00544.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG02572.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03209.hp2 HG03654.hp2 HG04184.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0007 a0002c0002t0008 others(2): Show a0002c0002t0001 a0002c0002t0007 a0002c0002t0008 a0003c0003t0001 a0003c0003t0006	a0002c0002t0001g0018 a0002c0002t0001g0086 a0002c0002t0001g0088 others(6): Show a0002c0002t0001g0018 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0007g0032 a0002c0002t0008g0043 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0054 a0003c0003t0006g0055	14	352	0.0398	16	c.186 others(35): Show c.1864-2095_1864-2080dupATTTATTTATTTATTT	DNAAF2	ENSG00000165506.15	transcript	ENST00000298292.13	protein_coding	1/2			chr14	TogoVar

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