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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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
DNAJC3_chr13_95672139_95799988	95704851	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0152 a0001c0001t0016g0152	1	374	0.0027	34	c.83- others(49): Show c.83-4358_83-4357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237085	A A	AAGAGAGA others(27): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG06807.hp1 NA20300.hp2 HG02809.hp1 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0005 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0005	3	338	0.0089	34	c.29 others(45): Show c.2901_*2902insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2805		chr11	TogoVar
DNAJC6_chr1_65304543_65420871	65417065	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG01346.hp1 others(22): Show HG00099.hp1 HG00544.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01975.hp1 HG01978.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG03017.hp1 HG03710.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18997.hp1 NA19002.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0009 a0002c0002t0001 a0002c0002t0003 a0002c0002t0014 a0002c0004t0017 a0002c0004t0025	a0001c0001t0001g0278 a0001c0001t0001g0289 a0001c0003t0001g0139 others(22): Show a0001c0001t0001g0278 a0001c0001t0001g0289 a0001c0003t0001g0139 a0001c0003t0001g0145 a0001c0003t0001g0190 a0001c0003t0001g0202 a0001c0003t0001g0204 a0001c0003t0001g0226 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0003g0049 a0001c0003t0003g0071 a0001c0003t0003g0107 a0001c0003t0003g0123 a0001c0003t0009g0235 a0002c0002t0001g0059 a0002c0002t0001g0067 a0002c0002t0001g0113 a0002c0002t0001g0192 a0002c0002t0003g0080 a0002c0002t0014g0055 a0002c0002t0014g0060 a0002c0004t0017g0166 a0002c0004t0017g0269 a0002c0004t0025g0214	25	326	0.0767	34	c.40 others(45): Show c.4040_*4041insATATATATATATATATATATATATATATATATAT	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding		1195		chr1	TogoVar
DNAL1_chr14_73639986_73708732	73648403	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00735.hp2 others(30): Show HG00544.hp2 HG00621.hp2 HG00735.hp2 HG01081.hp1 HG01256.hp2 HG01261.hp2 HG02040.hp1 HG02071.hp2 HG02135.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 NA18522.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18964.hp2 NA18986.hp2 NA18994.hp2 NA19012.hp1 NA19078.hp1 NA19240.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(18): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0001t0054 a0001c0001t0058 a0001c0001t0065 a0001c0001t0081 a0001c0001t0085 a0001c0001t0089 a0001c0001t0090 a0001c0001t0096 a0001c0001t0097 a0001c0001t0102	a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0005g0116 others(30): Show a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0007g0219 a0001c0001t0007g0222 a0001c0001t0007g0223 a0001c0001t0007g0224 a0001c0001t0008g0126 a0001c0001t0008g0127 a0001c0001t0008g0128 a0001c0001t0008g0130 a0001c0001t0015g0121 a0001c0001t0015g0122 a0001c0001t0023g0028 a0001c0001t0026g0087 a0001c0001t0026g0120 a0001c0001t0028g0115 a0001c0001t0030g0029 a0001c0001t0030g0033 a0001c0001t0031g0221 a0001c0001t0036g0119 a0001c0001t0054g0030 a0001c0001t0058g0220 a0001c0001t0065g0218 a0001c0001t0081g0129 a0001c0001t0085g0125 a0001c0001t0089g0124 a0001c0001t0090g0114 a0001c0001t0096g0123 a0001c0001t0097g0007 a0001c0001t0102g0316	33	340	0.0971	34	c.3+3 others(47): Show c.3+3375_3+3376insATATATATATATATATATATATATATATATAT AT	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNAL1_chr14_73639986_73708732	73681633	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0312 a0001c0001t0104g0312	1	340	0.0029	34	c.265 others(51): Show c.265-5625_265-5624insAATATATATATATATATATATATATATA TATATA	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNASE1L1_chrX_154396236_154414254	154396693	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0075 a0001c0002t0005g0075	1	279	0.0036	34	c.60 others(45): Show c.6013_*6014insATATATATATATATATATATATATATATATATAT	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4542		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	279	0.0036	34	c.59 others(45): Show c.5994_*5995insAAAAAAAAAATATATATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	279	0.0036	34	c.59 others(45): Show c.5994_*5995insAAAAAAAAAAAATATATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	279	0.0036	34	c.59 others(45): Show c.5994_*5995insAAAAAAAAAAAAAATATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNM3_chr1_171836498_172417717	172071086	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	136	0.0074	34	c.142 others(53): Show c.1422+2182_1422+2215dupATATATATATATATATATATATATAT ATATATAT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172416841	A A	ACCCCCCC others(27): Show ACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0130 a0001c0001t0028g0130	1	136	0.0074	34	c.90 others(45): Show c.9000_*9001insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding		4125		chr1	TogoVar
DNMBP_chr10_99870577_100014947	99970971	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0239 a0001c0028t0002g0239	1	274	0.0037	34	c.145 others(51): Show c.145+1008_145+1009insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	2/16			chr10	TogoVar
DNMT1_chr19_10128346_10199953	10183092	T T	TACACACA others(27): Show TACACACACGTATATATACGTGTGTATATATATAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0011 a0001c0012t0001g0011	1	386	0.0026	34	c.81- others(49): Show c.81-1016_81-1015insGTATATATATACACACGTATATATACGTGT GTGT	DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	1/40			chr19	TogoVar
DNMT1_chr19_10128346_10199953	10183092	T T	TATACACA others(27): Show TATACACACGTATATATACGTGTGTATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG03471.hp2 others(2): Show HG02572.hp1 HG03098.hp1 HG03471.hp2 NA18906.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0017 a0001c0002t0001g0018 a0002c0003t0001g0001 others(1): Show a0001c0002t0001g0017 a0001c0002t0001g0018 a0002c0003t0001g0001 a0002c0003t0001g0037	5	386	0.0130	34	c.81- others(49): Show c.81-1016_81-1015insGTATATATATACACACGTATATATACGTGT GTAT	DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	1/40			chr19	TogoVar
DNMT1_chr19_10128346_10199953	10183092	T T	TATACACG others(27): Show TATACACGTATATATACGTGTGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp1 HG01361.hp2 HG01496.hp1	a0003 a0003	a0003c0004 a0003c0028 a0003c0004 a0003c0028	a0003c0004t0001 a0003c0028t0001 a0003c0004t0001 a0003c0028t0001	a0003c0004t0001g0078 a0003c0028t0001g0079 a0003c0004t0001g0078 a0003c0028t0001g0079	2	386	0.0052	34	c.81- others(49): Show c.81-1016_81-1015insGTATATATATATACACACGTATATATACGT GTAT	DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	1/40			chr19	TogoVar
DNMT1_chr19_10128346_10199953	10183092	T T	TATATACA others(27): Show TATATACACGTATATATACGTGTGTATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0097 a0001c0010t0001g0097	1	386	0.0026	34	c.81- others(49): Show c.81-1016_81-1015insGTATATATATACACACGTATATATACGTGT ATAT	DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	1/40			chr19	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	172	0.0058	34	c.244 others(51): Show c.244-4329_244-4328insATATATATATATATATATATATTTTTTT TTTTTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	172	0.0058	34	c.244 others(51): Show c.244-4329_244-4328insATATATATATATATATATATATATTTTT TTTTTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0162 a0002c0002t0003g0162	1	172	0.0058	34	c.244 others(51): Show c.244-4329_244-4328insATATATATATATATATATATATATATTT TTTTTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224961468	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	172	0.0058	34	c.124 others(53): Show c.124-29801_124-29800insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK11_chrX_118490815_118691147	118516004	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02486.hp1 others(1): Show HG02109.hp1 HG02280.hp1 HG02486.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0002t0001g0139 others(1): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0002t0001g0139 a0001c0002t0001g0180	4	211	0.0190	34	c.102 others(53): Show c.102+19946_102+19947insTATATATATATATATATATATATATA TATATATA	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK11_chrX_118490815_118691147	118516004	A A	ACTATATA others(27): Show ACTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp1 HG01952.hp1 others(11): Show HG01261.hp1 HG01496.hp1 HG01952.hp1 HG02071.hp1 HG02074.hp1 HG02615.hp1 HG02630.hp1 HG03453.hp2 HG03516.hp2 HG06807.hp1 NA18940.hp1 NA18962.hp1 NA18983.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0113 others(11): Show a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0113 a0001c0001t0001g0158 a0001c0001t0001g0184 a0001c0001t0002g0097 a0001c0001t0003g0041 a0001c0001t0003g0046 a0001c0001t0006g0190 a0001c0001t0007g0042 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0146 a0001c0002t0002g0052	14	211	0.0664	34	c.102 others(53): Show c.102+19931_102+19932insCTATATATATATATATATATATATAT ATATATAT	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52			chrX	TogoVar
DOCK11_chrX_118490815_118691147	118516018	T T	TATATATA others(27): Show TATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	211	0.0047	34	c.102 others(53): Show c.102+19946_102+19947insTATATATATATATATATATATATACA CACACACA	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK11_chrX_118490815_118691147	118549106	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02922.hp2 others(4): Show HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03209.hp1 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0155 a0001c0001t0001g0181 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0155 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0002t0001g0095	7	211	0.0332	34	c.558 others(51): Show c.558+3005_558+3006insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	6/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK11_chrX_118490815_118691147	118647940	T T	TTATAATA others(27): Show TTATAATATATAATAATATATAATATATTATTATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03579.hp1 HG01243.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0183 a0001c0001t0001g0191	2	211	0.0095	34	c.439 others(51): Show c.4399-978_4399-977insTATTATATATAATATATAATAATATATA ATATAT	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	40/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK1_chr10_126900428_127457516	126946426	A A	AATCCCAG others(27): Show AATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0074 a0001c0007t0001g0074	1	136	0.0074	34	c.47- others(51): Show c.47-24275_47-24242dupATCCCAGCTACTTGGGAGGCTGAGGCAG GAGAAT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947354	G G	GGTTGGTA others(27): Show GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG03041.hp1 HG02280.hp2 HG02809.hp1 HG03041.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0019 a0001c0001 a0001c0004 a0003c0019	a0001c0001t0002 a0001c0004t0010 a0003c0019t0003 a0001c0001t0002 a0001c0004t0010 a0003c0019t0003	a0001c0001t0002g0128 a0001c0004t0010g0054 a0003c0019t0003g0051 a0001c0001t0002g0128 a0001c0004t0010g0054 a0003c0019t0003g0051	3	136	0.0221	34	c.47- others(51): Show c.47-23314_47-23281dupAGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947414	A A	ATGGTGGT others(27): Show ATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03486.hp2 HG01261.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0027 a0002c0070 a0001c0027 a0002c0070	a0001c0027t0002 a0002c0070t0002 a0001c0027t0002 a0002c0070t0002	a0001c0027t0002g0113 a0002c0070t0002g0094 a0001c0027t0002g0113 a0002c0070t0002g0094	2	136	0.0147	34	c.47- others(51): Show c.47-23281_47-23280insAGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947439	T T	TTGGTGAT others(27): Show TTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0048 a0001c0011t0001g0048	1	136	0.0074	34	c.47- others(51): Show c.47-23258_47-23257insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947547	A A	ATGGTGGT others(27): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0001 a0001c0073t0001	a0001c0073t0001g0019 a0001c0073t0001g0019	1	136	0.0074	34	c.47- others(51): Show c.47-23124_47-23091dupGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGAT others(27): Show TTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0031 a0001c0009t0002g0031	1	136	0.0074	34	c.47- others(51): Show c.47-23083_47-23082insAGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGAT others(27): Show TTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0001 a0002c0036t0001	a0002c0036t0001g0069 a0002c0036t0001g0069	1	136	0.0074	34	c.47- others(51): Show c.47-23090_47-23057dupATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(27): Show TTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0037 a0003c0003t0003g0037	1	136	0.0074	34	c.47- others(51): Show c.47-23091_47-23090insGTGATGGTGGTTGGTAGTATTACTGTTG GTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947779	A A	ATGGTGGT others(27): Show ATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0117 a0001c0037t0002g0117	1	136	0.0074	34	c.47- others(51): Show c.47-22916_47-22915insAGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947847	A A	GTGGTGGT others(27): Show GTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0003 a0002c0035t0003	a0002c0035t0003g0053 a0002c0035t0003g0053	1	136	0.0074	34	c.47- others(51): Show c.47-22856_47-22855insGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51			chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947912	A A	ATGGTGGT others(27): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02735.hp2 HG01192.hp2 HG02735.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0062 a0001c0007 a0002c0062	a0001c0007t0001 a0002c0062t0001 a0001c0007t0001 a0002c0062t0001	a0001c0007t0001g0105 a0002c0062t0001g0016 a0001c0007t0001g0105 a0002c0062t0001g0016	2	136	0.0147	34	c.47- others(51): Show c.47-22688_47-22655dupGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947920	G G	GGTTGGTA others(27): Show GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp1 HG02280.hp2 HG03041.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0019 a0001c0001 a0003c0019	a0001c0001t0002 a0003c0019t0003 a0001c0001t0002 a0003c0019t0003	a0001c0001t0002g0128 a0003c0019t0003g0051 a0001c0001t0002g0128 a0003c0019t0003g0051	2	136	0.0147	34	c.47- others(51): Show c.47-22757_47-22756insATGGTGGTAGTTGGTAGTATTACTGTTG GTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947980	G G	GTGATGGT others(27): Show GTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0120 a0001c0004t0002g0120	1	136	0.0074	34	c.47- others(51): Show c.47-22720_47-22719insATGGTGGTTGGTAGTATTACTGTTGGTG GTGATG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947980	G G	GTGGTGGT others(27): Show GTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18943.hp1 HG02559.hp1 NA18943.hp1	a0001 a0003 a0001 a0003	a0001c0008 a0003c0003 a0001c0008 a0003c0003	a0001c0008t0002 a0003c0003t0004 a0001c0008t0002 a0003c0003t0004	a0001c0008t0002g0075 a0003c0003t0004g0005 a0001c0008t0002g0075 a0003c0003t0004g0005	2	136	0.0147	34	c.47- others(51): Show c.47-22689_47-22688insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947983	G G	GTGGTGGT others(27): Show GTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0004 a0003c0026t0004	a0003c0026t0004g0100 a0003c0026t0004g0100	1	136	0.0074	34	c.47- others(51): Show c.47-22712_47-22711insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948014	G G	GTGGTGGT others(27): Show GTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0072 a0001c0008t0014g0072	1	136	0.0074	34	c.47- others(51): Show c.47-22544_47-22511dupGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948184	A A	ATGGTGGT others(27): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02027.hp1 HG01123.hp2 HG02027.hp1	a0001 a0001	a0001c0016 a0001c0067 a0001c0016 a0001c0067	a0001c0016t0002 a0001c0067t0006 a0001c0016t0002 a0001c0067t0006	a0001c0016t0002g0093 a0001c0067t0006g0028 a0001c0016t0002g0093 a0001c0067t0006g0028	2	136	0.0147	34	c.47- others(51): Show c.47-22511_47-22510insGGTTGGTAGTATTACTGTTGGTGATGGT GGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948184	A A	ATGGTGGT others(27): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03017.hp2 HG00741.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0018 a0001c0006 a0002c0018	a0001c0006t0001 a0002c0018t0001 a0001c0006t0001 a0002c0018t0001	a0001c0006t0001g0102 a0002c0018t0001g0070 a0001c0006t0001g0102 a0002c0018t0001g0070	2	136	0.0147	34	c.47- others(51): Show c.47-22511_47-22510insGGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948283	A A	ATGGTGGT others(27): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0038 a0001c0047t0001g0038	1	136	0.0074	34	c.47- others(51): Show c.47-22386_47-22385insGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948419	A A	ATGGTGGT others(27): Show ATGGTGGTGGTTGGTAATATTACTGTTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG01884.hp2 HG02922.hp2	a0001 a0001	a0001c0025 a0001c0038 a0001c0025 a0001c0038	a0001c0025t0002 a0001c0038t0001 a0001c0025t0002 a0001c0038t0001	a0001c0025t0002g0025 a0001c0038t0001g0076 a0001c0025t0002g0025 a0001c0038t0001g0076	2	136	0.0147	34	c.47- others(51): Show c.47-22273_47-22272insTGGTAATATTACTGTTGGTGGTGGTGGT GGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948419	A A	ATGGTGGT others(27): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01978.hp2 HG03710.hp1 others(3): Show HG01069.hp1 HG01978.hp2 HG03710.hp1 NA18943.hp2 NA18971.hp2 NA19090.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0005 a0001c0007 others(3): Show a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0002c0018 a0005c0066	a0001c0002t0001 a0001c0005t0006 a0001c0007t0001 others(3): Show a0001c0002t0001 a0001c0005t0006 a0001c0007t0001 a0001c0008t0002 a0002c0018t0001 a0005c0066t0003	a0001c0002t0001g0097 a0001c0005t0006g0084 a0001c0007t0001g0085 others(3): Show a0001c0002t0001g0097 a0001c0005t0006g0084 a0001c0007t0001g0085 a0001c0008t0002g0089 a0002c0018t0001g0030 a0005c0066t0003g0073	6	136	0.0441	34	c.47- others(51): Show c.47-22273_47-22272insTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127347840	T T	TCCCCTCC others(27): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0135 a0001c0004t0002g0135	1	136	0.0074	34	c.322 others(53): Show c.3224+4094_3224+4095insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCC	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	31/51			chr10	TogoVar
DOCK1_chr10_126900428_127457516	127428974	A A	ATGTGGAT others(27): Show ATGTGGATTGGGGTGCCGTGTGGATTGGGGTGCCG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01167.hp1 others(4): Show HG01069.hp2 HG01071.hp1 HG01167.hp1 HG02055.hp2 HG02257.hp1 HG03704.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0012 others(2): Show a0001c0005 a0001c0007 a0001c0012 a0001c0052 a0001c0056	a0001c0005t0001 a0001c0005t0012 a0001c0007t0001 others(3): Show a0001c0005t0001 a0001c0005t0012 a0001c0007t0001 a0001c0012t0002 a0001c0052t0002 a0001c0056t0001	a0001c0005t0001g0045 a0001c0005t0012g0130 a0001c0007t0001g0074 others(4): Show a0001c0005t0001g0045 a0001c0005t0012g0130 a0001c0007t0001g0074 a0001c0012t0002g0115 a0001c0012t0002g0116 a0001c0052t0002g0035 a0001c0056t0001g0012	7	136	0.0515	34	c.491 others(53): Show c.4914+2991_4914+2992insGTGCCGTGTGGATTGGGGTGCCGTGT GGATTGGG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	47/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK2_chr5_169632275_170088382	169635759	A A	ATATATAT others(27): Show ATATATATATATATATATATGCATATATGTATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 NA20300.hp2 HG02895.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0009 a0005c0041 a0001c0009 a0005c0041	a0001c0009t0001 a0005c0041t0001 a0001c0009t0001 a0005c0041t0001	a0001c0009t0001g0056 a0005c0041t0001g0055 a0001c0009t0001g0056 a0005c0041t0001g0055	2	184	0.0109	34	c.-15 others(45): Show c.-1568_-1567insTATATATATATATATATATGCATATATGTATGTG	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding		1515		chr5	TogoVar
DOCK3_chr3_50669927_51389198	50698517	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	212	0.0047	34	c.37+ others(51): Show c.37+23242_37+23243insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	1/52		INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 7994 hits)