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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
DOCK5_chr8_25179689_25420711	25183208	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03704.hp2 HG02572.hp2 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0016 a0002c0006t0001 a0001c0004t0016 a0002c0006t0001	a0001c0004t0016g0059 a0002c0006t0001g0049 a0001c0004t0016g0059 a0002c0006t0001g0049	2	210	0.0095	25	c.-17 others(36): Show c.-1701_-1700insTTTTTTTTTTTTTTTTTTTTTTTTT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding		1480		chr8	TogoVar
DOCK6_chr19_11194295_11267524	11224217	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0243 a0001c0002t0001g0243	1	314	0.0032	25	c.295 others(44): Show c.2956-1112_2956-1111insGAAAGAAAGAAAGAAAGAAAGAAAG	DOCK6	ENSG00000130158.14	transcript	ENST00000294618.12	protein_coding	24/47			chr19	TogoVar
DOCK7_chr1_62449726_62693386	62483209	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18965.hp2 NA18977.hp2 HG02622.hp1 NA18965.hp2 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0213 a0002c0003t0003g0004 a0002c0003t0003g0005 a0001c0001t0001g0213 a0002c0003t0003g0004 a0002c0003t0003g0005	3	228	0.0132	25	c.550 others(44): Show c.5508+4188_5508+4189insCAAAAAAAAAAAAAAAAAAAAAAAA	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	43/49			chr1	TogoVar
DOCK8_chr9_209865_470255	277457	G G	GAGAGAAG others(18): Show GAGAGAAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0032 a0032	a0032c0089 a0032c0089	a0032c0089t0001 a0032c0089t0001	a0032c0089t0001g0120 a0032c0089t0001g0120	1	256	0.0039	25	c.156 others(42): Show c.156+5737_156+5761dupGAAGAGAAGAGAAGAGAAGAGAAGA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	2/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK9_chr13_98788429_98983064	98791319	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0264 a0001c0011t0002g0264	1	348	0.0029	25	c.33 others(36): Show c.3306_*3307insAAAAAAAAAAAAAAAAAAAAAAAAA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding		2109		chr13	TogoVar
DOCK9_chr13_98788429_98983064	98814938	A A	AATAACAT others(18): Show AATAACATAACATAACATAACATAAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	348	0.0029	25	c.513 others(44): Show c.5131-4648_5131-4647insGTTATGTTATGTTATGTTATGTTAT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	45/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98887144	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0189 a0001c0003t0002g0189	1	348	0.0029	25	c.204 others(42): Show c.2044-521_2044-520insTATATATATATATATATATATATAT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	18/52			chr13	TogoVar
DOK3_chr5_177496904_177514826	177497008	G G	GGGGGAGG others(18): Show GGGGGAGGGGAGGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01123.hp2 others(22): Show HG00408.hp1 HG00642.hp1 HG01123.hp2 HG01192.hp1 HG02080.hp2 HG02735.hp1 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03490.hp2 HG03491.hp1 HG03688.hp2 NA18942.hp2 NA18964.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18998.hp2 NA19004.hp2 NA19057.hp1 NA19068.hp1 NA19070.hp2 NA19087.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0012 others(9): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0034 a0001c0001t0002g0116 a0001c0001t0005g0033 a0001c0001t0006g0014 a0001c0001t0006g0025 a0001c0001t0006g0098 a0001c0001t0010g0013 a0002c0002t0002g0052	25	436	0.0573	25	c.69 others(36): Show c.6974_*6975insTCCCCTCCCCTCCCCTCCCCTCCCC	DOK3	ENSG00000146094.16	transcript	ENST00000510898.7	protein_coding		4895		chr5	TogoVar
DOK6_chr18_69395888_69854087	69851192	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG01081.hp1 others(5): Show HG00423.hp2 HG00544.hp1 HG01081.hp1 HG01261.hp1 HG01978.hp1 HG02735.hp1 HG03688.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0078 a0001c0002t0001 a0001c0002t0010 a0001c0003t0002	a0001c0001t0001g0065 a0001c0001t0001g0146 a0001c0001t0002g0076 others(5): Show a0001c0001t0001g0065 a0001c0001t0001g0146 a0001c0001t0002g0076 a0001c0001t0009g0103 a0001c0001t0078g0130 a0001c0002t0001g0126 a0001c0002t0010g0068 a0001c0003t0002g0111	8	170	0.0471	25	c.98 others(36): Show c.9809_*9810insTTTTTTTTTTTTTTTTTTTTTTTTT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding		2106		chr18	TogoVar
DONSON_chr21_33572551_33593684	33583200	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03453.hp2 HG03471.hp1 others(4): Show HG02165.hp1 HG03453.hp2 HG03471.hp1 NA18973.hp2 NA18998.hp2 NA19004.hp2 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0029	a0001c0001t0002g0245 a0001c0001t0003g0246 a0001c0001t0007g0293 others(4): Show a0001c0001t0002g0245 a0001c0001t0003g0246 a0001c0001t0007g0293 a0001c0001t0016g0294 a0001c0001t0020g0243 a0001c0001t0023g0244 a0001c0001t0029g0378	7	426	0.0164	25	c.964 others(40): Show c.964+263_964+287dupTTTTTTTTTTTTTTTTTTTTTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	5/9			chr21	TogoVar
DOP1B_chr21_36151824_36299274	36201345	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	292	0.0034	25	c.491 others(40): Show c.491+864_491+865insTTTTTTTTTTTTTTTTTTTTTTTTT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DPEP1_chr16_89608642_89643433	89613182	C C	CACAACGA others(18): Show CACAACGAAAATGCATGAGAAAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	250	0.0040	25	c.-64 others(34): Show c.-644_-643insACAACGAAAATGCATGAGAAAAAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding		459		chr16	TogoVar
DPEP1_chr16_89608642_89643433	89639100	C C	CCCCCACC others(18): Show CCCCCACCCCTGCACACACACACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(82): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00642.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01243.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18944.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18983.hp1 NA18984.hp1 NA19009.hp1 NA19064.hp1 NA19067.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0002c0002 others(3): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0003c0004 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0002t0001 a0003c0003t0002 a0003c0004t0002 a0005c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(82): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0237 a0001c0001t0002g0090 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0006t0001g0006 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0003c0003t0002g0083 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0004t0002g0050 a0005c0009t0001g0085	85	250	0.3400	25	c.87 others(34): Show c.878_*879insCCCCACCCCTGCACACACACACATA	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding		668		chr16	TogoVar
DPEP2_chr16_67982394_68004484	68001994	G G	GGAAGGAA others(18): Show GGAAGGAAGAAAGGAAAGGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG02622.hp1 others(14): Show HG01433.hp1 HG01891.hp1 HG02622.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0129 a0001c0002t0001g0023 a0001c0002t0001g0072 others(6): Show a0001c0001t0001g0129 a0001c0002t0001g0023 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0002g0009	17	356	0.0478	25	c.-26 others(36): Show c.-2666_-2665insTTTCCTTCCTTTCCTTTCTTCCTTC	DPEP2	ENSG00000167261.14	transcript	ENST00000393847.6	protein_coding		2511		chr16	TogoVar
DPEP3_chr16_67970663_67985499	67980836	T T	TATTTCAT others(18): Show TATTTCATTTCATTTCATTTCATTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01433.hp2 HG01934.hp2 others(11): Show HG00280.hp2 HG01433.hp2 HG01934.hp2 HG02055.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03579.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	14	332	0.0422	25	c.-45 others(34): Show c.-457_-456insGAAATGAAATGAAATGAAATGAAAT	DPEP3	ENSG00000141096.6	transcript	ENST00000268793.6	protein_coding		338		chr16	TogoVar
DPF3_chr14_72604034_72899101	72756906	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18906.hp1 HG01167.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0009 a0001c0003t0004 a0001c0002t0009 a0001c0003t0004	a0001c0002t0009g0077 a0001c0003t0004g0086 a0001c0002t0009g0077 a0001c0003t0004g0086	2	234	0.0086	25	c.194 others(42): Show c.194-3536_194-3535insCTTTCTTTCTTTCTTTCTTTCTTTT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72756906	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0075	a0001c0002t0075g0052 a0001c0002t0075g0052	1	234	0.0043	25	c.194 others(42): Show c.194-3536_194-3535insCTTTCTTTCTTTCTTTCTTTCTTTC	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72805068	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	234	0.0043	25	c.33- others(42): Show c.33-33176_33-33175insGTGTGTGTGTGTGTGTGTGTGTGTG	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72838905	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18998.hp2 NA18961.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0049 a0001c0001t0001 a0001c0001t0049	a0001c0001t0001g0023 a0001c0001t0049g0209 a0001c0001t0001g0023 a0001c0001t0049g0209	2	234	0.0086	25	c.32+ others(42): Show c.32+55151_32+55152insATATATATATATATATATATATATA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72838905	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0123 a0001c0003t0004g0123	1	234	0.0043	25	c.32+ others(42): Show c.32+55151_32+55152insAAATATATATATATATATATATATA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72838906	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02056.hp2 HG02559.hp1 others(3): Show HG01192.hp1 HG02056.hp2 HG02559.hp1 HG02630.hp1 NA19030.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0002c0005	a0001c0001t0003 a0001c0001t0057 a0001c0002t0003 others(3): Show a0001c0001t0003 a0001c0001t0057 a0001c0002t0003 a0001c0003t0083 a0001c0010t0008 a0002c0005t0008	a0001c0001t0003g0218 a0001c0001t0057g0219 a0001c0002t0003g0034 others(3): Show a0001c0001t0003g0218 a0001c0001t0057g0219 a0001c0002t0003g0034 a0001c0003t0083g0120 a0001c0010t0008g0181 a0002c0005t0008g0128	6	234	0.0256	25	c.32+ others(42): Show c.32+55150_32+55151insTATATATATATATATATATATATAT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72846078	G G	GTTTATTT others(18): Show GTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0125 a0001c0001t0010g0125	1	234	0.0043	25	c.32+ others(42): Show c.32+47954_32+47978dupATAAAATAAAATAAAATAAAATAAA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0143 a0003c0003t0002g0143	1	228	0.0044	25	c.312 others(44): Show c.312+41706_312+41707insATATATATATTTTTTTTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	228	0.0044	25	c.312 others(44): Show c.312+41706_312+41707insATATATATATATTTTTTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	228	0.0044	25	c.312 others(44): Show c.312+41706_312+41707insATATATATATATATTTTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18971.hp1 HG01433.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0118 a0001c0001t0002g0165 a0001c0001t0001g0118 a0001c0001t0002g0165	2	228	0.0088	25	c.312 others(44): Show c.312+41706_312+41707insATATATATATATATATATATATATT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	228	0.0044	25	c.312 others(44): Show c.312+41706_312+41707insATATATATATATATATATATATATA	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35542965	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp2 NA18963.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0100 a0001c0001t0001g0101	2	228	0.0088	25	c.24- others(38): Show c.24-459_24-458insTATATATATATATATATATATATAT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	1/8			chr15	TogoVar
DPH7_chr9_137549444_137583925	137553641	G G	GGCGCCCT others(18): Show GGCGCCCTGGCTCATGCCTGTACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	340	0.0029	25	c.15 others(36): Show c.1597_*1598insTTGGTACAGGCATGAGCCAGGGCGC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding		802		chr9	TogoVar
DPP10_chr2_114437641_115850780	114749548	C C	CTTTTATT others(18): Show CTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	56	0.0179	25	c.60+ others(44): Show c.60+306740_60+306764dupATTTTATTTTATTTTATTTTATTTT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP4_chr2_161987245_162079215	161987840	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 NA19058.hp2 NA19088.hp1 HG02056.hp2 NA19058.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0090 a0001c0001t0002g0214 a0001c0001t0002g0252 a0001c0001t0001g0090 a0001c0001t0002g0214 a0001c0001t0002g0252	3	292	0.0103	25	c.54 others(36): Show c.5442_*5443insTATATATATATATATATATATATAT	DPP4	ENSG00000197635.11	transcript	ENST00000360534.8	protein_coding		4404		chr2	TogoVar
DPT_chr1_168690468_168734206	168725215	A A	ATTCCTTT others(18): Show ATTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02559.hp1 HG02970.hp2 others(2): Show HG02523.hp1 HG02559.hp1 HG02970.hp2 NA19009.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0004g0142 others(2): Show a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0002t0001g0079	5	438	0.0114	25	c.305 others(42): Show c.305+3630_305+3654dupAGGAAAGGAAAGGAAAGGAAAGGAA	DPT	ENSG00000143196.5	transcript	ENST00000367817.4	protein_coding	1/3			chr1	TogoVar
DPY19L1_chr7_34923881_35042485	35017501	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG03490.hp1 HG02257.hp2 HG02486.hp1 HG03490.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0001c0001t0006 a0007c0008t0001 a0001c0001t0001 a0001c0001t0006 a0007c0008t0001	a0001c0001t0001g0148 a0001c0001t0006g0307 a0007c0008t0001g0144 a0001c0001t0001g0148 a0001c0001t0006g0307 a0007c0008t0001g0144	3	328	0.0092	25	c.411 others(40): Show c.411+380_411+381insTTTTTTTTTTTTTTTTTTTTTTTTT	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	3/21			chr7	TogoVar
DPY19L1_chr7_34923881_35042485	35027668	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02735.hp2 NA19078.hp2 HG00597.hp2 HG02735.hp2 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0319 a0002c0002t0003g0226 a0002c0002t0003g0227 a0001c0001t0002g0319 a0002c0002t0003g0226 a0002c0002t0003g0227	3	328	0.0092	25	c.299 others(42): Show c.299-9073_299-9072insTTTTTTTTTTTTTTTTTTTTTTTTT	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	1/21			chr7	TogoVar
DPY19L2_chr12_63553913_63673493	63591993	A A	AGGGAGGG others(18): Show AGGGAGGGGAAGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0329 a0001c0005t0001g0329	1	362	0.0028	25	c.158 others(44): Show c.1580+2069_1580+2093dupCTCCCCTCCCCTCCCTTCCCCTCCC	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPYD_chr1_97072743_97926034	97169523	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01257.hp2 HG02132.hp2 HG00099.hp2 HG01257.hp2 HG02132.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0012 a0004c0004 a0003c0003 a0003c0012 a0004c0004	a0003c0003t0002 a0003c0012t0002 a0004c0004t0002 a0003c0003t0002 a0003c0012t0002 a0004c0004t0002	a0003c0003t0002g0017 a0003c0012t0002g0014 a0004c0004t0002g0003 a0003c0003t0002g0017 a0003c0012t0002g0014 a0004c0004t0002g0003	3	52	0.0577	25	c.262 others(46): Show c.2622+23521_2622+23545dupTAAAATAAAATAAAATAAAATAAA A	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYSL2_chr8_26509031_26663175	26556110	A A	ATATAGTA others(18): Show ATATAGTATATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01070.hp1 others(11): Show HG00323.hp2 HG00741.hp2 HG01070.hp1 HG01255.hp1 HG01256.hp1 HG01934.hp2 HG02109.hp2 HG02280.hp1 HG02559.hp1 HG02717.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0001c0016 a0001c0019	a0001c0001t0017 a0001c0001t0050 a0001c0004t0002 others(7): Show a0001c0001t0017 a0001c0001t0050 a0001c0004t0002 a0001c0004t0005 a0001c0004t0007 a0001c0004t0014 a0001c0007t0006 a0001c0007t0041 a0001c0016t0018 a0001c0019t0010	a0001c0001t0017g0070 a0001c0001t0050g0074 a0001c0004t0002g0061 others(11): Show a0001c0001t0017g0070 a0001c0001t0050g0074 a0001c0004t0002g0061 a0001c0004t0002g0066 a0001c0004t0005g0067 a0001c0004t0007g0055 a0001c0004t0007g0056 a0001c0004t0014g0064 a0001c0007t0006g0057 a0001c0007t0006g0059 a0001c0007t0006g0060 a0001c0007t0041g0058 a0001c0016t0018g0065 a0001c0019t0010g0092	14	316	0.0443	25	c.355 others(44): Show c.355-25855_355-25854insGTATATATATACTATATATAGTATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556134	A A	AGTATATA others(18): Show AGTATATATATACTATATATAATAGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0186 a0001c0002t0006g0190 a0001c0002t0006g0186 a0001c0002t0006g0190	2	316	0.0063	25	c.355 others(44): Show c.355-25835_355-25834insGTATATATATACTATATATAATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL3_chr5_147385808_147515068	147428743	T T	TGTTCTCA others(18): Show TGTTCTCACTTATAAGTGGGAGCTGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp2 HG01884.hp1 others(42): Show HG01167.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02258.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02922.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18963.hp1 NA18984.hp1 NA18999.hp2 NA19004.hp2 NA19010.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19086.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0006 a0001c0002t0009 a0001c0002t0013 a0001c0002t0014 a0001c0002t0022 a0001c0003t0003 a0001c0003t0012 a0001c0005t0002 a0001c0006t0004 a0001c0007t0002 a0001c0008t0006	a0001c0001t0001g0267 a0001c0001t0002g0142 a0001c0001t0002g0147 others(41): Show a0001c0001t0001g0267 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0250 a0001c0001t0002g0260 a0001c0001t0005g0143 a0001c0001t0005g0210 a0001c0001t0005g0261 a0001c0001t0006g0070 a0001c0001t0006g0165 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0002t0006g0259 a0001c0002t0009g0117 a0001c0002t0009g0119 a0001c0002t0013g0118 a0001c0002t0014g0257 a0001c0002t0022g0262 a0001c0003t0003g0001 a0001c0003t0003g0014 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0086 a0001c0003t0003g0126 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0205 a0001c0003t0003g0206 a0001c0003t0003g0241 a0001c0003t0003g0274 a0001c0003t0012g0025 a0001c0005t0002g0258 a0001c0006t0004g0265 a0001c0006t0004g0266 a0001c0006t0004g0268 a0001c0007t0002g0013 a0001c0007t0002g0030 a0001c0008t0006g0292	45	298	0.1510	25	c.382 others(42): Show c.382-3781_382-3780insTCAGCTCCCACTTATAAGTGAGAAC	DPYSL3	ENSG00000113657.13	transcript	ENST00000343218.10	protein_coding	1/13			chr5	TogoVar
DPYSL5_chr2_26843132_26955351	26936945	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	1	232	0.0043	25	c.947 others(42): Show c.947+2227_947+2228insAAAAAAAAAAAAAAAAAAAAAAAAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYS_chr8_104374431_104472055	104461291	C C	CAATAAAA others(18): Show CAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0256 a0003c0007t0006g0256	1	380	0.0026	25	c.264 others(42): Show c.264+5341_264+5365dupTTATTTTATTTTATTTTATTTTATT	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	1/9			chr8	TogoVar
DRAM1_chr12_101872580_101928612	101895186	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02257.hp1 NA18970.hp1 others(4): Show HG00408.hp2 HG02257.hp1 NA18970.hp1 NA18980.hp1 NA18995.hp1 NA19068.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0202 a0001c0001t0001g0273 others(4): Show a0001c0001t0001g0086 a0001c0001t0001g0202 a0001c0001t0001g0273 a0001c0001t0001g0280 a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0001g0315	7	396	0.0177	25	c.132 others(42): Show c.132-2671_132-2647dupTTTTTTTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRG2_chr17_18082948_18112969	18090406	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0080 a0001c0002t0002g0080	1	418	0.0024	25	c.64+ others(40): Show c.64+2320_64+2321insATATATATATATTTTTTTTTTTTTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(18): Show TATATATATATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02647.hp2 others(3): Show HG01109.hp2 HG02280.hp2 HG02647.hp2 HG02965.hp2 HG03139.hp1 HG03486.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0035 a0001c0001 a0001c0002 a0007c0035	a0001c0001t0003 a0001c0002t0003 a0007c0035t0003 a0001c0001t0003 a0001c0002t0003 a0007c0035t0003	a0001c0001t0003g0284 a0001c0001t0003g0286 a0001c0001t0003g0287 others(3): Show a0001c0001t0003g0284 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0002t0003g0123 a0007c0035t0003g0126	6	322	0.0186	25	c.342 others(42): Show c.3420-522_3420-521insGGCGCATATATATATATATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DSC2_chr18_31053840_31107421	31101412	T T	TGAGGCAC others(18): Show TGAGGCACAGGGAGCCGCACGTTCCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18984.hp1 NA21309.hp1 HG02004.hp1 NA18984.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0042 a0001c0001t0001 a0001c0001t0002 a0002c0002t0042	a0001c0001t0001g0269 a0001c0001t0002g0270 a0002c0002t0042g0271 a0001c0001t0001g0269 a0001c0001t0002g0270 a0002c0002t0042g0271	3	380	0.0079	25	c.69+ others(38): Show c.69+466_69+490dupGGGAACGTGCGGCTCCCTGTGCCTC	DSC2	ENSG00000134755.18	transcript	ENST00000280904.11	protein_coding	1/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117687426	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18989.hp2 HG02451.hp2 NA18989.hp2	a0001 a0006 a0001 a0006	a0001c0011 a0006c0065 a0001c0011 a0006c0065	a0001c0011t0002 a0006c0065t0001 a0001c0011t0002 a0006c0065t0001	a0001c0011t0002g0174 a0006c0065t0001g0109 a0001c0011t0002g0174 a0006c0065t0001g0109	2	194	0.0103	25	c.511 others(44): Show c.511+89364_511+89365insAAAAAAAAAAAAAAAAAAAAAAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117780200	A A	AGAGAGAG others(18): Show AGAGAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0038 a0001c0015t0002g0038	1	194	0.0052	25	c.364 others(40): Show c.364+292_364+293insCTTTCTTTCTTTCTTTCTCTCTCTC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32			chr11	TogoVar
DSE_chr6_116365947_116449861	116421463	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0329 a0001c0001t0048g0329	1	366	0.0027	25	c.417 others(42): Show c.417-5110_417-5109insATATATATATATATATATATATATT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DST_chr6_56452996_56959830	56812109	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02071.hp1 HG02071.hp2 others(2): Show HG00597.hp2 HG02071.hp1 HG02071.hp2 HG03098.hp1 NA20129.hp2	a0001 a0004 a0042 a0001 a0004 a0042	a0001c0001 a0001c0037 a0004c0003 others(1): Show a0001c0001 a0001c0037 a0004c0003 a0042c0039	a0001c0001t0001 a0001c0037t0001 a0004c0003t0004 others(1): Show a0001c0001t0001 a0001c0037t0001 a0004c0003t0004 a0042c0039t0001	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0037t0001g0034 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0037t0001g0034 a0004c0003t0004g0078 a0042c0039t0001g0083	5	84	0.0595	25	c.625 others(44): Show c.625+39263_625+39287dupCTTTTCTTTTCTTTTCTTTTCTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	4/103			chr6	TogoVar
DTNA_chr18_34705298_34896844	34769725	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02647.hp2 HG03098.hp2 HG01169.hp1 HG02647.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0002g0038 a0001c0001t0003g0082 a0001c0001t0001g0048 a0001c0001t0002g0038 a0001c0001t0003g0082	3	112	0.0268	25	c.148 others(42): Show c.148+3699_148+3700insTTTTTTTTTTTTTTTTTTTTTTTTT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)