Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02257.hp1 HG02257.hp2 others(10): Show HG02027.hp2 HG02257.hp1 HG02257.hp2 HG02895.hp2 HG03927.hp2 HG03942.hp1 NA18906.hp2 NA18948.hp1 NA18960.hp2 NA19010.hp1 NA19011.hp2 NA19079.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0095 a0001c0001t0001g0217 a0001c0001t0001g0218 others(10): Show a0001c0001t0001g0095 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0310 a0001c0001t0003g0267 a0001c0001t0005g0268 a0001c0001t0008g0271	13	146	0.0890	19	c.327 others(36): Show c.327-2566_327-2548dupAAAAAAAAAAAAAAAAAAA	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31214059	C C	CAATTCCT others(12): Show CAATTCCTTGGCTGGGTTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(106): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0029 a0030 a0031 a0032 a0033 a0034 a0035	a0001c0001 a0001c0002 a0001c0021 others(52): Show a0001c0001 a0001c0002 a0001c0021 a0001c0053 a0002c0005 a0002c0009 a0002c0013 a0002c0016 a0002c0020 a0002c0023 a0002c0051 a0002c0058 a0003c0003 a0003c0008 a0003c0010 a0003c0061 a0004c0004 a0004c0012 a0004c0054 a0005c0007 a0005c0022 a0005c0043 a0006c0006 a0006c0030 a0007c0018 a0007c0019 a0008c0011 a0009c0015 a0010c0014 a0011c0038 a0011c0046 a0013c0048 a0013c0059 a0014c0029 a0014c0050 a0015c0017 a0016c0041 a0016c0055 a0017c0036 a0018c0039 a0019c0032 a0021c0060 a0022c0057 a0023c0031 a0024c0034 a0025c0026 a0026c0024 a0027c0044 a0029c0040 a0030c0047 a0031c0037 a0032c0045 a0033c0049 a0034c0035 a0035c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(68): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0010 a0001c0021t0001 a0001c0053t0001 a0002c0005t0001 a0002c0005t0002 a0002c0009t0001 a0002c0009t0002 a0002c0009t0007 a0002c0013t0002 a0002c0016t0001 a0002c0016t0005 a0002c0020t0012 a0002c0020t0019 a0002c0023t0009 a0002c0051t0003 a0002c0058t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0017 a0003c0008t0002 a0003c0008t0003 a0003c0008t0018 a0003c0010t0001 a0003c0010t0007 a0003c0061t0001 a0004c0004t0001 a0004c0012t0001 a0004c0054t0001 a0005c0007t0001 a0005c0007t0002 a0005c0022t0016 a0005c0043t0014 a0006c0006t0001 a0006c0006t0003 a0006c0030t0004 a0007c0018t0001 a0007c0019t0001 a0008c0011t0001 a0009c0015t0001 a0010c0014t0001 a0010c0014t0005 a0011c0038t0001 a0011c0046t0001 a0013c0048t0001 a0013c0059t0004 a0014c0029t0001 a0014c0050t0009 a0015c0017t0001 a0016c0041t0001 a0016c0055t0001 a0017c0036t0001 a0018c0039t0001 a0019c0032t0001 a0021c0060t0001 a0022c0057t0015 a0023c0031t0001 a0024c0034t0006 a0025c0026t0001 a0026c0024t0008 a0027c0044t0003 a0029c0040t0002 a0030c0047t0013 a0031c0037t0004 a0032c0045t0001 a0033c0049t0001 a0034c0035t0001 a0035c0027t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 others(106): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0003g0016 a0001c0001t0003g0035 a0001c0002t0001g0021 a0001c0002t0001g0047 a0001c0002t0001g0068 a0001c0002t0001g0085 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0114 a0001c0002t0010g0093 a0001c0021t0001g0032 a0001c0053t0001g0096 a0002c0005t0001g0017 a0002c0005t0001g0037 a0002c0005t0001g0043 a0002c0005t0001g0088 a0002c0005t0002g0015 a0002c0009t0001g0077 a0002c0009t0002g0112 a0002c0009t0007g0018 a0002c0013t0002g0094 a0002c0016t0001g0057 a0002c0016t0005g0042 a0002c0020t0012g0121 a0002c0020t0019g0006 a0002c0023t0009g0011 a0002c0051t0003g0091 a0002c0058t0003g0051 a0003c0003t0001g0022 a0003c0003t0001g0028 a0003c0003t0001g0046 a0003c0003t0001g0060 a0003c0003t0002g0027 a0003c0003t0017g0087 a0003c0008t0002g0125 a0003c0008t0003g0116 a0003c0008t0018g0001 a0003c0010t0001g0055 a0003c0010t0001g0063 a0003c0010t0007g0010 a0003c0061t0001g0072 a0004c0004t0001g0002 a0004c0004t0001g0038 a0004c0004t0001g0080 a0004c0004t0001g0081 a0004c0004t0001g0084 a0004c0012t0001g0030 a0004c0012t0001g0064 a0004c0054t0001g0003 a0005c0007t0001g0056 a0005c0007t0001g0073 a0005c0007t0001g0120 a0005c0007t0002g0089 a0005c0022t0016g0107 a0005c0043t0014g0118 a0006c0006t0001g0013 a0006c0006t0001g0044 a0006c0006t0001g0106 a0006c0006t0003g0026 a0006c0030t0004g0070 a0007c0018t0001g0061 a0007c0018t0001g0095 a0007c0019t0001g0048 a0007c0019t0001g0058 a0008c0011t0001g0039 a0009c0015t0001g0025 a0009c0015t0001g0098 a0010c0014t0001g0014 a0010c0014t0005g0074 a0011c0038t0001g0045 a0011c0046t0001g0053 a0013c0048t0001g0066 a0013c0059t0004g0065 a0014c0029t0001g0092 a0014c0050t0009g0123 a0015c0017t0001g0104 a0015c0017t0001g0111 a0016c0041t0001g0109 a0016c0055t0001g0041 a0017c0036t0001g0049 a0018c0039t0001g0040 a0019c0032t0001g0009 a0021c0060t0001g0113 a0022c0057t0015g0115 a0023c0031t0001g0086 a0024c0034t0006g0007 a0025c0026t0001g0126 a0026c0024t0008g0105 a0027c0044t0003g0122 a0029c0040t0002g0062 a0030c0047t0013g0005 a0031c0037t0004g0067 a0032c0045t0001g0078 a0033c0049t0001g0119 a0034c0035t0001g0079 a0035c0027t0001g0023	109	126	0.8651	19	c.936 others(38): Show c.9362-4361_9362-4360insCCAACCCAGCCAAGGAATT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	64/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31266159	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0094 a0002c0013t0002g0094	1	41	0.0244	19	c.922 others(38): Show c.9225-5162_9225-5144dupTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31321607	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0007 a0002c0009t0007	a0002c0009t0007g0018 a0002c0009t0007g0018	1	114	0.0088	19	c.922 others(38): Show c.9224+1990_9224+1991insCTTTCTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31473711	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	108	0.0093	19	c.893 others(38): Show c.8937+4394_8937+4395insTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31559640	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	92	0.0109	19	c.821 others(40): Show c.8218-52206_8218-52188dupTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31816822	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0044 a0006c0006t0001g0044	1	123	0.0081	19	c.730 others(38): Show c.7309+3152_7309+3153insGTGTGTGTGTGTGTGTGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	50/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GGGTGTGT others(12): Show GGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18943.hp1 NA20805.hp1 HG02922.hp1 NA18943.hp1 NA20805.hp1	a0003 a0005 a0016 a0003 a0005 a0016	a0003c0010 a0005c0007 a0016c0041 a0003c0010 a0005c0007 a0016c0041	a0003c0010t0001 a0005c0007t0002 a0016c0041t0001 a0003c0010t0001 a0005c0007t0002 a0016c0041t0001	a0003c0010t0001g0055 a0005c0007t0002g0089 a0016c0041t0001g0109 a0003c0010t0001g0055 a0005c0007t0002g0089 a0016c0041t0001g0109	3	30	0.1000	19	c.720 others(38): Show c.7201-2571_7201-2570insACACACACACACACACACC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0120 a0005c0007t0001g0120	1	28	0.0357	19	c.720 others(38): Show c.7201-2571_7201-2570insACACACACACACACACACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31865660	A A	AGTGCTCT others(12): Show AGTGCTCTAGATCAATGCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG03942.hp1 HG00140.hp1 HG00280.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0003g0016 a0001c0001t0003g0035 a0001c0001t0001g0004 a0001c0001t0003g0016 a0001c0001t0003g0035	3	126	0.0238	19	c.709 others(38): Show c.7098+9527_7098+9528insAAGCATTGATCTAGAGCAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	48/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32033626	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0116 a0003c0008t0003g0116	1	126	0.0079	19	c.643 others(40): Show c.6439-65131_6439-65113dupCTTTCTTTCTTTCTTTCTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32050974	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0018 a0003c0008t0018	a0003c0008t0018g0001 a0003c0008t0018g0001	1	86	0.0116	19	c.643 others(40): Show c.6439-82461_6439-82460insAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32132993	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02071.hp1 HG02257.hp1 others(1): Show HG00609.hp1 HG02071.hp1 HG02257.hp1 HG02293.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0005c0022 others(1): Show a0001c0001 a0001c0002 a0005c0022 a0007c0019	a0001c0001t0006 a0001c0002t0001 a0005c0022t0016 others(1): Show a0001c0001t0006 a0001c0002t0001 a0005c0022t0016 a0007c0019t0001	a0001c0001t0006g0097 a0001c0002t0001g0100 a0005c0022t0016g0107 others(1): Show a0001c0001t0006g0097 a0001c0002t0001g0100 a0005c0022t0016g0107 a0007c0019t0001g0048	4	16	0.2500	19	c.643 others(40): Show c.6438+83904_6438+83922dupAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32279966	C C	CATATATA others(12): Show CATATATATGTACCCCACAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(31): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG01069.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18747.hp1 NA18944.hp1 NA18945.hp1 NA18959.hp1 NA18970.hp1 NA18977.hp1 NA18983.hp1 NA18988.hp1 NA19012.hp1 NA20805.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0015 a0016 a0018 a0019 a0023 a0029	a0001c0001 a0001c0002 a0002c0005 others(17): Show a0001c0001 a0001c0002 a0002c0005 a0002c0013 a0003c0003 a0003c0061 a0004c0012 a0006c0006 a0007c0019 a0008c0011 a0009c0015 a0010c0014 a0012c0033 a0013c0059 a0015c0017 a0016c0041 a0018c0039 a0019c0032 a0023c0031 a0029c0040	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0002c0005t0001 a0002c0013t0002 a0003c0003t0001 a0003c0003t0002 a0003c0061t0001 a0004c0012t0001 a0004c0012t0002 a0006c0006t0001 a0006c0006t0003 a0007c0019t0001 a0008c0011t0001 a0009c0015t0001 a0010c0014t0001 a0010c0014t0005 a0012c0033t0001 a0013c0059t0004 a0015c0017t0001 a0016c0041t0001 a0018c0039t0001 a0019c0032t0001 a0023c0031t0001 a0029c0040t0002	a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0069 others(31): Show a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0003g0016 a0001c0001t0003g0035 a0001c0001t0006g0097 a0001c0002t0001g0068 a0001c0002t0001g0114 a0001c0002t0004g0110 a0002c0005t0001g0037 a0002c0013t0002g0124 a0003c0003t0001g0028 a0003c0003t0001g0060 a0003c0003t0002g0027 a0003c0061t0001g0072 a0004c0012t0001g0030 a0004c0012t0002g0031 a0006c0006t0001g0106 a0006c0006t0003g0026 a0007c0019t0001g0048 a0008c0011t0001g0036 a0009c0015t0001g0098 a0010c0014t0001g0014 a0010c0014t0005g0074 a0012c0033t0001g0102 a0013c0059t0004g0065 a0015c0017t0001g0104 a0016c0041t0001g0109 a0018c0039t0001g0040 a0019c0032t0001g0009 a0023c0031t0001g0086 a0029c0040t0002g0062	34	117	0.2906	19	c.629 others(38): Show c.6290+7562_6290+7563insATGTGGGGTACATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32292302	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03490.hp1 HG02145.hp1 HG03490.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0020c0042 a0001c0001 a0020c0042	a0001c0001t0001 a0020c0042t0011 a0001c0001t0001 a0020c0042t0011	a0001c0001t0001g0020 a0020c0042t0011g0090 a0001c0001t0001g0020 a0020c0042t0011g0090	2	21	0.0952	19	c.611 others(38): Show c.6118-4602_6118-4601insAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	42/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32585699	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0005 a0010c0014t0005	a0010c0014t0005g0074 a0010c0014t0005g0074	1	2	0.5000	19	c.160 others(40): Show c.1602+10039_1602+10057dupTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32712011	A A	AGGCATTT others(12): Show AGGCATTTAGAGCAATGCCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0001 a0023c0031t0001	a0023c0031t0001g0086 a0023c0031t0001g0086	1	126	0.0079	19	c.650 others(38): Show c.650-12737_650-12719dupAGGCATTGCTCTAAATGCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGCGGGG others(12): Show TGGCGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03225.hp1 HG02572.hp1 HG03225.hp1	a0003 a0022 a0003 a0022	a0003c0010 a0022c0057 a0003c0010 a0022c0057	a0003c0010t0007 a0022c0057t0015 a0003c0010t0007 a0022c0057t0015	a0003c0010t0007g0010 a0022c0057t0015g0115 a0003c0010t0007g0010 a0022c0057t0015g0115	2	5	0.4000	19	c.649 others(38): Show c.649+32215_649+32216insCCCCCCCCCCCCCCCCGCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGCG others(12): Show TGGGGGCGGGGGGGGGTTGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0012 a0002c0020t0012	a0002c0020t0012g0121 a0002c0020t0012g0121	1	4	0.2500	19	c.649 others(38): Show c.649+32215_649+32216insCCAACCCCCCCCCGCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGGG others(12): Show TGGGGGGGGGGGGGGGTTGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01358.hp1 HG02922.hp1 HG00673.hp1 HG01358.hp1 HG02922.hp1	a0003 a0005 a0017 a0003 a0005 a0017	a0003c0003 a0005c0007 a0017c0036 a0003c0003 a0005c0007 a0017c0036	a0003c0003t0001 a0005c0007t0002 a0017c0036t0001 a0003c0003t0001 a0005c0007t0002 a0017c0036t0001	a0003c0003t0001g0028 a0005c0007t0002g0089 a0017c0036t0001g0049 a0003c0003t0001g0028 a0005c0007t0002g0089 a0017c0036t0001g0049	3	6	0.5000	19	c.649 others(38): Show c.649+32215_649+32216insCCAACCCCCCCCCCCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGGG others(12): Show TGGGGGGGGGGGGGGTTGGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02083.hp1 HG02257.hp2 others(4): Show HG02056.hp1 HG02083.hp1 HG02257.hp2 NA18982.hp1 NA19058.hp1 NA19060.hp1 NA19070.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0011 a0031 a0035	a0001c0002 a0002c0005 a0003c0008 others(4): Show a0001c0002 a0002c0005 a0003c0008 a0006c0006 a0011c0038 a0031c0037 a0035c0027	a0001c0002t0010 a0002c0005t0001 a0003c0008t0018 others(4): Show a0001c0002t0010 a0002c0005t0001 a0003c0008t0018 a0006c0006t0001 a0011c0038t0001 a0031c0037t0004 a0035c0027t0001	a0001c0002t0010g0093 a0002c0005t0001g0017 a0003c0008t0018g0001 others(4): Show a0001c0002t0010g0093 a0002c0005t0001g0017 a0003c0008t0018g0001 a0006c0006t0001g0013 a0011c0038t0001g0045 a0031c0037t0004g0067 a0035c0027t0001g0023	7	10	0.7000	19	c.649 others(38): Show c.649+32215_649+32216insCCCAACCCCCCCCCCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777278	G G	GGTGGGGG others(12): Show GGTGGGGGGGGGGTTGGGGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0026 a0026	a0026c0024 a0026c0024	a0026c0024t0008 a0026c0024t0008	a0026c0024t0008g0105 a0026c0024t0008g0105	1	125	0.0080	19	c.649 others(38): Show c.649+32214_649+32215insGCCCCAACCCCCCCCCCAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32844417	A A	AAAAGAAA others(12): Show AAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03209.hp1 HG03225.hp1	a0002 a0003 a0002 a0003	a0002c0025 a0003c0010 a0002c0025 a0003c0010	a0002c0025t0008 a0003c0010t0007 a0002c0025t0008 a0003c0010t0007	a0002c0025t0008g0108 a0003c0010t0007g0010 a0002c0025t0008g0108 a0003c0010t0007g0010	2	123	0.0163	19	c.264 others(34): Show c.264+365_264+366insCTTTTCTTTTCTTTTCTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	4/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32863509	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18965.hp1 NA19068.hp1 NA18943.hp1 NA18965.hp1 NA19068.hp1	a0003 a0006 a0030 a0003 a0006 a0030	a0003c0010 a0006c0030 a0030c0047 a0003c0010 a0006c0030 a0030c0047	a0003c0010t0001 a0006c0030t0004 a0030c0047t0013 a0003c0010t0001 a0006c0030t0004 a0030c0047t0013	a0003c0010t0001g0055 a0006c0030t0004g0070 a0030c0047t0013g0005 a0003c0010t0001g0055 a0006c0030t0004g0070 a0030c0047t0013g0005	3	72	0.0417	19	c.94- others(36): Show c.94-13690_94-13689insTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33033554	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0112 a0002c0009t0002g0112	1	45	0.0222	19	c.32- others(36): Show c.32-13355_32-13354insTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33051646	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0077 a0002c0009t0001g0077	1	44	0.0227	19	c.32- others(36): Show c.32-31465_32-31447dupAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02293.hp2 HG02717.hp1 HG01109.hp1 HG02293.hp2 HG02717.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0009 a0004c0004 a0008c0011 a0002c0009 a0004c0004 a0008c0011	a0002c0009t0001 a0004c0004t0001 a0008c0011t0005 a0002c0009t0001 a0004c0004t0001 a0008c0011t0005	a0002c0009t0001g0077 a0004c0004t0001g0081 a0008c0011t0005g0117 a0002c0009t0001g0077 a0004c0004t0001g0081 a0008c0011t0005g0117	3	16	0.1875	19	c.32- others(36): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMRT2_chr9_1045357_1062552	1060726	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01169.hp2 others(4): Show HG00140.hp1 HG01167.hp2 HG01169.hp2 HG02040.hp2 HG02148.hp2 HG03239.hp2 NA18947.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0001 a0005c0006 a0001c0003 a0002c0001 a0005c0006	a0001c0003t0003 a0001c0003t0005 a0002c0001t0001 others(1): Show a0001c0003t0003 a0001c0003t0005 a0002c0001t0001 a0005c0006t0012	a0001c0003t0003g0018 a0001c0003t0005g0013 a0002c0001t0001g0001 others(1): Show a0001c0003t0003g0018 a0001c0003t0005g0013 a0002c0001t0001g0001 a0005c0006t0012g0011	7	240	0.0292	19	c.34 others(30): Show c.3453_*3454insTTTTTTTTTTTTTTTTTTT	DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding		3175		chr9	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAATAT others(12): Show AATAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00597.hp1 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0073 a0001c0001t0001g0003 a0001c0001t0001g0073	2	144	0.0139	19	c.836 others(34): Show c.836-900_836-899insATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079301	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01515.hp1 HG01928.hp1 others(22): Show HG01361.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG02015.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02615.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03471.hp1 HG03540.hp2 NA18944.hp2 NA18947.hp2 NA18952.hp2 NA18972.hp2 NA18980.hp1 NA18985.hp2 NA19085.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0200 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0232	25	169	0.1479	19	c.836 others(34): Show c.836-879_836-878insATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15			chr8	TogoVar
DMWD_chr19_45777947_45797845	45795887	G G	GCCCCTCC others(12): Show GCCCCTCCTCCTCCTCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	438	0.0023	19	c.-31 others(30): Show c.-3132_-3131insCGAGGAGGAGGAGGAGGGG	DMWD	ENSG00000185800.12	transcript	ENST00000270223.7	protein_coding		3043		chr19	TogoVar
DMWD_chr19_45777947_45797845	45795916	C C	CCTCCTCG others(12): Show CCTCCTCGCCCTCCTCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	438	0.0023	19	c.-31 others(30): Show c.-3161_-3160insAGAGGAGGAGGGCGAGGAG	DMWD	ENSG00000185800.12	transcript	ENST00000270223.7	protein_coding		3072		chr19	TogoVar
DMXL1_chr5_119066087_119254127	119089292	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19060.hp1 NA18962.hp2 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0120 a0001c0002t0006g0119 a0001c0002t0001g0120 a0001c0002t0006g0119	2	146	0.0137	19	c.88- others(34): Show c.88-8686_88-8685insATATATATATATATATATT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089293	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	171	0.0058	19	c.88- others(34): Show c.88-8686_88-8685insATATATATATATATATATA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43			chr5	TogoVar
DMXL1_chr5_119066087_119254127	119164916	A A	AATAATAT others(12): Show AATAATATATATTTTACAAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02723.hp2 HG02735.hp2 others(5): Show HG01256.hp1 HG02723.hp2 HG02735.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG04199.hp2 NA19043.hp1	a0001 a0024 a0001 a0024	a0001c0002 a0001c0006 a0024c0024 a0001c0002 a0001c0006 a0024c0024	a0001c0002t0002 a0001c0006t0002 a0024c0024t0002 a0001c0002t0002 a0001c0006t0002 a0024c0024t0002	a0001c0002t0002g0015 a0001c0006t0002g0016 a0001c0006t0002g0017 others(5): Show a0001c0002t0002g0015 a0001c0006t0002g0016 a0001c0006t0002g0017 a0001c0006t0002g0018 a0001c0006t0002g0020 a0001c0006t0002g0021 a0001c0006t0002g0022 a0024c0024t0002g0019	8	236	0.0339	19	c.487 others(36): Show c.4872+251_4872+252insTTTACAATATAATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	20/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51576183	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 NA18952.hp1 NA19005.hp2 others(2): Show HG00597.hp2 NA18952.hp1 NA19005.hp2 NA19055.hp1 NA21309.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0009 a0004c0005 a0005c0009	a0004c0005t0001 a0005c0009t0004 a0004c0005t0001 a0005c0009t0004	a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0315 others(2): Show a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0315 a0004c0005t0001g0319 a0005c0009t0004g0130	5	138	0.0362	19	c.88- others(29): Show c.88-21_88-3dupTTTTTTTTTTTTTTTTTTT	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	1/43			chr15	TogoVar
DNA2_chr10_68409064_68476973	68412218	T T	TTTTTTTG others(12): Show TTTTTTTGTTTTTGTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG02258.hp1 HG02683.hp1 others(4): Show HG00280.hp2 HG02258.hp1 HG02683.hp1 HG03491.hp2 HG03492.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0004 a0001c0016t0004 a0001c0006t0004 a0001c0016t0004	a0001c0006t0004g0051 a0001c0006t0004g0052 a0001c0006t0004g0053 others(4): Show a0001c0006t0004g0051 a0001c0006t0004g0052 a0001c0006t0004g0053 a0001c0006t0004g0054 a0001c0006t0004g0055 a0001c0006t0004g0089 a0001c0016t0004g0056	7	324	0.0216	19	c.28 others(30): Show c.2820_*2821insCAAAAACAAAAACAAAAAA	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding		1845		chr10	TogoVar
DNAAF1_chr16_84140308_84182918	84141090	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02886.hp2 HG03139.hp1 others(1): Show HG02145.hp2 HG02886.hp2 HG03139.hp1 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0025 a0001c0001 a0003c0025	a0001c0001t0002 a0003c0025t0001 a0001c0001t0002 a0003c0025t0001	a0001c0001t0002g0122 a0001c0001t0002g0411 a0001c0001t0002g0413 others(1): Show a0001c0001t0002g0122 a0001c0001t0002g0411 a0001c0001t0002g0413 a0003c0025t0001g0414	4	445	0.0090	19	c.-43 others(30): Show c.-4351_-4350insAAAAAAAAAAAAAAAAAAA	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding		4217		chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84141099	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0154 a0001c0008t0001g0154	1	451	0.0022	19	c.-43 others(30): Show c.-4342_-4341insAAAAAAAAAAAAAAAAAAC	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding		4208		chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTCT others(12): Show CTCTCTCTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02486.hp2 others(2): Show HG01109.hp1 HG02055.hp2 HG02486.hp2 HG03041.hp1 NA19043.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0007c0038 a0001c0001 a0007c0010 a0007c0038	a0001c0001t0004 a0007c0010t0004 a0007c0038t0004 a0001c0001t0004 a0007c0010t0004 a0007c0038t0004	a0001c0001t0004g0397 a0007c0010t0004g0394 a0007c0010t0004g0396 others(2): Show a0001c0001t0004g0397 a0007c0010t0004g0394 a0007c0010t0004g0396 a0007c0010t0004g0398 a0007c0038t0004g0395	5	82	0.0610	19	c.125 others(34): Show c.125-410_125-409insCTCTCTCTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84150084	G G	GAAGAAAA others(12): Show GAAGAAAAAGGAAAGGAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0028 a0028	a0028c0031 a0028c0031	a0028c0031t0001 a0028c0031t0001	a0028c0031t0001g0410 a0028c0031t0001g0410	1	454	0.0022	19	c.261 others(34): Show c.261-165_261-147dupAGAAAAAGGAAAGGAGAAA	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55167634	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAGAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(72): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03471.hp1 HG03491.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18983.hp2 NA18991.hp2 NA18998.hp1 NA19003.hp1 NA19010.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19086.hp2 NA19091.hp2 NA20129.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0007	a0002c0003 a0002c0006 a0003c0002 others(2): Show a0002c0003 a0002c0006 a0003c0002 a0005c0008 a0007c0015	a0002c0003t0001 a0002c0006t0001 a0003c0002t0001 others(2): Show a0002c0003t0001 a0002c0006t0001 a0003c0002t0001 a0005c0008t0001 a0007c0015t0001	a0002c0003t0001g0065 a0002c0003t0001g0088 a0002c0003t0001g0089 others(18): Show a0002c0003t0001g0065 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0006t0001g0084 a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0007 a0003c0002t0001g0008 a0003c0002t0001g0023 a0003c0002t0001g0035 a0003c0002t0001g0037 a0003c0002t0001g0041 a0003c0002t0001g0068 a0003c0002t0001g0069 a0003c0002t0001g0072 a0003c0002t0001g0075 a0003c0002t0001g0076 a0003c0002t0001g0078 a0003c0002t0001g0083 a0005c0008t0001g0036 a0007c0015t0001g0077	75	299	0.2508	19	c.-11 others(30): Show c.-1117_-1116insCTTTTTTCTTTTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1022		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55169933	G G	GTATTTAT others(12): Show GTATTTATTTATTATTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA20129.hp1 NA19043.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0088 a0002c0003t0001g0089	2	215	0.0093	19	c.-34 others(30): Show c.-3416_-3415insAATAAATAATAAATAAATA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		3321		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170873	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	383	0.0026	19	c.-43 others(30): Show c.-4356_-4355insGAGAGAGAGAGAGAGAGAG	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4261		chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55498593	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG02572.hp1 HG02818.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0002 a0004c0005t0003 a0003c0003t0002 a0004c0005t0003	a0003c0003t0002g0305 a0004c0005t0003g0302 a0003c0003t0002g0305 a0004c0005t0003g0302	2	154	0.0130	19	c.-25 others(34): Show c.-255-28_-255-10dupTTTTTTTTTTTTTTTTTTT	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	1/9			chr15	TogoVar
DNAAF6_chrX_107201611_107249247	107229127	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18522.hp1 HG02135.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0002g0142 a0001c0001t0001g0147 a0001c0001t0002g0142	2	99	0.0202	19	c.429 others(36): Show c.429+6296_429+6314dupTTTTTTTTTTTTTTTTTTT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
DNAAF9_chr20_3244306_3412669	3268897	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01358.hp1 HG01074.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0313 a0001c0001t0007g0314 a0001c0001t0007g0313 a0001c0001t0007g0314	2	150	0.0133	19	c.278 others(38): Show c.2786+1511_2786+1529dupAAAAAAAAAAAAAAAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	30/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3310333	A A	AAAAGAAA others(12): Show AAAAGAAAGAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02109.hp1 others(15): Show HG00735.hp2 HG01891.hp2 HG02109.hp1 HG02155.hp1 HG02615.hp2 HG02723.hp1 HG02735.hp1 HG02922.hp1 HG02965.hp1 HG03195.hp1 HG03195.hp2 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA19054.hp2 NA19064.hp1 NA19083.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 others(2): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0012 a0001c0003t0038	a0001c0003t0004g0008 a0001c0003t0004g0025 a0001c0003t0004g0041 others(15): Show a0001c0003t0004g0008 a0001c0003t0004g0025 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0056 a0001c0003t0005g0067 a0001c0003t0005g0325 a0001c0003t0005g0326 a0001c0003t0005g0329 a0001c0003t0005g0333 a0001c0003t0005g0339 a0001c0003t0009g0045 a0001c0003t0009g0046 a0001c0003t0009g0060 a0001c0003t0012g0027 a0001c0003t0012g0033 a0001c0003t0038g0358	18	60	0.3000	19	c.167 others(38): Show c.1678+4699_1678+4700insCTTTCTTTTTTCTTTCTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	20/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3328188	T T	TTTTTTGT others(12): Show TTTTTTGTTTGTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG02683.hp1 others(3): Show HG02109.hp1 HG02647.hp2 HG02683.hp1 HG03098.hp2 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009	a0001c0003t0004g0052 a0001c0003t0005g0032 a0001c0003t0009g0045 others(3): Show a0001c0003t0004g0052 a0001c0003t0005g0032 a0001c0003t0009g0045 a0001c0003t0009g0046 a0001c0003t0009g0060 a0001c0003t0009g0061	6	286	0.0210	19	c.110 others(38): Show c.1101-1905_1101-1904insCAAAACAAACAAACAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	12/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3328188	T T	TTTTTTTT others(12): Show TTTTTTTTTTGTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(69): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp1 HG01243.hp1 HG01256.hp2 HG01433.hp2 HG01891.hp2 HG01943.hp2 HG02015.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp1 HG03942.hp1 HG04199.hp1 NA18522.hp1 NA18940.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18971.hp2 NA18981.hp1 NA18983.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA20129.hp1 NA20805.hp2	a0001 a0004 a0009 others(1): Show a0001 a0004 a0009 a0010	a0001c0003 a0001c0006 a0004c0021 others(2): Show a0001c0003 a0001c0006 a0004c0021 a0009c0023 a0010c0022	a0001c0003t0004 a0001c0003t0005 a0001c0003t0012 others(9): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0012 a0001c0003t0022 a0001c0003t0026 a0001c0003t0038 a0001c0006t0008 a0001c0006t0023 a0001c0006t0025 a0004c0021t0004 a0009c0023t0005 a0010c0022t0005	a0001c0003t0004g0008 a0001c0003t0004g0012 a0001c0003t0004g0014 others(68): Show a0001c0003t0004g0008 a0001c0003t0004g0012 a0001c0003t0004g0014 a0001c0003t0004g0024 a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0029 a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0037 a0001c0003t0004g0038 a0001c0003t0004g0039 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0004g0049 a0001c0003t0004g0050 a0001c0003t0004g0051 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0055 a0001c0003t0004g0056 a0001c0003t0004g0057 a0001c0003t0004g0058 a0001c0003t0004g0059 a0001c0003t0005g0001 a0001c0003t0005g0015 a0001c0003t0005g0017 a0001c0003t0005g0018 a0001c0003t0005g0019 a0001c0003t0005g0020 a0001c0003t0005g0022 a0001c0003t0005g0023 a0001c0003t0005g0067 a0001c0003t0005g0324 a0001c0003t0005g0325 a0001c0003t0005g0326 a0001c0003t0005g0328 a0001c0003t0005g0329 a0001c0003t0005g0330 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0335 a0001c0003t0005g0336 a0001c0003t0005g0337 a0001c0003t0005g0338 a0001c0003t0005g0339 a0001c0003t0005g0357 a0001c0003t0012g0027 a0001c0003t0012g0028 a0001c0003t0012g0033 a0001c0003t0022g0013 a0001c0003t0026g0334 a0001c0003t0038g0358 a0001c0006t0008g0351 a0001c0006t0008g0352 a0001c0006t0008g0353 a0001c0006t0008g0355 a0001c0006t0023g0005 a0001c0006t0025g0354 a0004c0021t0004g0356 a0009c0023t0005g0327 a0010c0022t0005g0016	72	352	0.2045	19	c.110 others(38): Show c.1101-1905_1101-1904insCAAAACAAACAAAAAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	12/36			chr20	TogoVar

Search by Variant

Search

Search Results