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
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	279	0.0036	36	c.59 others(47): Show c.5994_*5995insAAAAAAAAAAAATATATATATATATATATATATA TA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNM2_chr19_10713079_10836903	10836289	A A	AGCCCTGC others(29): Show AGCCCTGCCCCGTGCTACCGCGAGCTCATTGAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	278	0.0036	36	c.52 others(47): Show c.5242_*5243insGCCCTGCCCCGTGCTACCGCGAGCTCATTGAGGA GC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding		4387		chr19	TogoVar
DNM3_chr1_171836498_172417717	172283780	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0108 a0001c0002t0011g0108	1	136	0.0074	36	c.177 others(57): Show c.1770-24945_1770-24944insAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAAGAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNMBP_chr10_99870577_100014947	99970971	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0004 a0001c0018t0004	a0001c0018t0004g0249 a0001c0018t0004g0249	1	274	0.0037	36	c.145 others(53): Show c.145+1008_145+1009insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	2/16			chr10	TogoVar
DNMT3A_chr2_25222874_25346925	25226707	C C	CATTTATT others(29): Show CATTTATTTATTTATTTATTTATTTATTTATTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	294	0.0034	36	c.75 others(47): Show c.7571_*7572insAAATAAATAAATAAATAAATAAATAAATAAATAA AT	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding		1166		chr2	TogoVar
DOC2B_chr17_137789_186650	144068	A A	AGGCGGCG others(29): Show AGGCGGCGGGCGGGGCGGCGGGCGGGGCGGCGGGCGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp2 NA20300.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0065 a0001c0002t0020g0069 a0001c0002t0020g0065 a0001c0002t0020g0069	2	339	0.0059	36	c.33 others(47): Show c.3337_*3372dupCCGCCCGCCGCCCCGCCCGCCGCCCCGCCCGCCG CC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	9/9	3372		chr17	TogoVar
DOCK10_chr2_224760090_225047468	224921112	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03017.hp2 NA18522.hp1 HG01884.hp2 HG03017.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0004 a0002c0002t0003 a0002c0008t0008 a0001c0001t0004 a0002c0002t0003 a0002c0008t0008	a0001c0001t0004g0030 a0002c0002t0003g0155 a0002c0008t0008g0163 a0001c0001t0004g0030 a0002c0002t0003g0155 a0002c0008t0008g0163	3	172	0.0174	36	c.244 others(53): Show c.244-4329_244-4328insATATATATATATATATATATATATTTTT TTTTTTTT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK11_chrX_118490815_118691147	118516004	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18945.hp1 HG02723.hp2 NA18945.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0016 a0001c0001 a0007c0016	a0001c0001t0001 a0007c0016t0001 a0001c0001t0001 a0007c0016t0001	a0001c0001t0001g0202 a0007c0016t0001g0140 a0001c0001t0001g0202 a0007c0016t0001g0140	2	211	0.0095	36	c.102 others(55): Show c.102+19946_102+19947insTATATATATATATATATATATATATA TATATATATA	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(29): Show ACTATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02897.hp1 others(4): Show HG02723.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp1 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 others(4): Show a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0002t0001g0112	7	211	0.0332	36	c.102 others(55): Show c.102+19931_102+19932insCTATATATATATATATATATATATAT ATATATATAT	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52			chrX	TogoVar
DOCK11_chrX_118490815_118691147	118516004	A A	ACTCTATA others(29): Show ACTCTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	211	0.0047	36	c.102 others(55): Show c.102+19931_102+19932insCTCTATATATATATATATATATATAT ATATATATAT	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52			chrX	TogoVar
DOCK11_chrX_118490815_118691147	118516018	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0098 a0001c0007t0001g0098	1	211	0.0047	36	c.102 others(55): Show c.102+19946_102+19947insTATATATATATATATATATATATATA TATATACGCA	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(29): Show CTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	211	0.0047	36	c.558 others(53): Show c.558+3005_558+3006insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	6/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK1_chr10_126900428_127457516	127093198	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 NA18522.hp1 HG02559.hp1 HG02717.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0001c0024 a0003c0003 a0001c0004 a0001c0024 a0003c0003	a0001c0004t0010 a0001c0024t0002 a0003c0003t0004 a0001c0004t0010 a0001c0024t0002 a0003c0003t0004	a0001c0004t0010g0052 a0001c0024t0002g0061 a0003c0003t0004g0005 a0001c0004t0010g0052 a0001c0024t0002g0061 a0003c0003t0004g0005	3	136	0.0221	36	c.244 others(57): Show c.2446-13010_2446-13009insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127347884	C C	CTCCCCTC others(29): Show CTCCCCTCCCCTCCCCTCCCTTGCTAAGCCCTTGCAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02486.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0010 a0003c0021 a0005c0014 a0002c0010 a0003c0021 a0005c0014	a0002c0010t0002 a0003c0021t0003 a0005c0014t0009 a0002c0010t0002 a0003c0021t0003 a0005c0014t0009	a0002c0010t0002g0001 a0003c0021t0003g0003 a0003c0021t0003g0004 others(1): Show a0002c0010t0002g0001 a0003c0021t0003g0003 a0003c0021t0003g0004 a0005c0014t0009g0078	4	136	0.0294	36	c.322 others(55): Show c.3224+4138_3224+4139insTCCCCTCCCCTCCCCTCCCTTGCTAA GCCCTTGCAG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	31/51			chr10	TogoVar
DOCK1_chr10_126900428_127457516	127397403	G G	GAGTTACA others(29): Show GAGTTACACGGGCAGCGTCTCCTGTGATCTGAGCATC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	136	0.0074	36	c.392 others(55): Show c.3928-5645_3928-5644insCGGGCAGCGTCTCCTGTGATCTGAGC ATCAGTTACA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK2_chr5_169632275_170088382	169635744	T T	TATATATG others(29): Show TATATATGTATGTGTATATATATATATATATATATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG03471.hp2 others(3): Show HG02559.hp1 HG03130.hp1 HG03471.hp2 HG03579.hp2 NA19043.hp2 NA20129.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0003 a0001c0005 a0001c0017 others(3): Show a0001c0003 a0001c0005 a0001c0017 a0001c0077 a0002c0046 a0012c0078	a0001c0003t0001 a0001c0005t0001 a0001c0017t0002 others(3): Show a0001c0003t0001 a0001c0005t0001 a0001c0017t0002 a0001c0077t0001 a0002c0046t0001 a0012c0078t0001	a0001c0003t0001g0058 a0001c0005t0001g0060 a0001c0017t0002g0059 others(3): Show a0001c0003t0001g0058 a0001c0005t0001g0060 a0001c0017t0002g0059 a0001c0077t0001g0130 a0002c0046t0001g0061 a0012c0078t0001g0074	6	184	0.0326	36	c.-15 others(47): Show c.-1583_-1582insATATATGTATGTGTATATATATATATATATATAT GC	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding		1530		chr5	TogoVar
DOCK3_chr3_50669927_51389198	51016752	T T	TAATATAT others(29): Show TAATATATATGATATATGTTTATATATATCATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18948.hp1 NA18612.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0003 a0001c0001t0001g0017	2	212	0.0094	36	c.316 others(55): Show c.316-47595_316-47560dupCATATATAAATATATATGATATATGT TTATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK4_chr7_111721110_112211399	111762762	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0082 a0001c0002t0005g0082	1	106	0.0094	36	c.402 others(55): Show c.4020+2355_4020+2356insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	39/52			chr7	TogoVar
DOCK4_chr7_111721110_112211399	111933141	T T	TATATATA others(29): Show TATATATACGTATATACACATATATACGTATATACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp1 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0056 a0001c0002t0001g0084 a0001c0001t0001g0056 a0001c0002t0001g0084	2	106	0.0189	36	c.106 others(55): Show c.1066+2363_1066+2398dupGTGTATATACGTATATATGTGTATAT ACGTATATAT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	12/52			chr7	TogoVar
DOCK4_chr7_111721110_112211399	111983862	G G	GCGCGCGC others(29): Show GCGCGCGCGCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	106	0.0094	36	c.549 others(51): Show c.549+443_549+444insTGTGTGTGTGTGTGTGTGTGTGTGTGTGCG CGCGCG	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	7/52			chr7	TogoVar
DOCK6_chr19_11194295_11267524	11224190	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	314	0.0032	36	c.295 others(55): Show c.2956-1085_2956-1084insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	DOCK6	ENSG00000130158.14	transcript	ENST00000294618.12	protein_coding	24/47			chr19	TogoVar
DOCK7_chr1_62449726_62693386	62524931	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02717.hp2 HG02965.hp1 others(2): Show HG00544.hp2 HG02717.hp2 HG02965.hp1 NA18965.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0098 a0001c0002t0002g0020 a0001c0002t0002g0021 others(2): Show a0001c0001t0001g0098 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0044 a0001c0002t0002g0055	5	228	0.0219	36	c.393 others(55): Show c.3936+3219_3936+3220insTATATATATATATATATATATATATA TATATATATA	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	31/49			chr1	TogoVar
DOCK7_chr1_62449726_62693386	62638526	T T	TATGAATA others(29): Show TATGAATATATATTTTCATGAATATATATATTTTTTC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0004 a0002c0003t0003g0004	1	228	0.0044	36	c.819 others(53): Show c.819-1959_819-1924dupGAAAAAATATATATATTCATGAAAATAT ATATTCAT	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	7/49			chr1	TogoVar
DOCK8_chr9_209865_470255	400070	T T	TCACCATC others(29): Show TCACCATCACCTCCACCTCCACCATCACCACCACCTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02572.hp1 HG02723.hp2	a0011 a0050 a0011 a0050	a0011c0156 a0050c0149 a0011c0156 a0050c0149	a0011c0156t0001 a0050c0149t0010 a0011c0156t0001 a0050c0149t0010	a0011c0156t0001g0052 a0050c0149t0010g0071 a0011c0156t0001g0052 a0050c0149t0010g0071	2	256	0.0078	36	c.323 others(53): Show c.3234+821_3234+822insTCCACCTCCACCATCACCACCACCTCCA CCATCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400097	C C	CCACCACC others(29): Show CCACCACCTCCACCATCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0075 a0002c0075	a0002c0075t0003 a0002c0075t0003	a0002c0075t0003g0085 a0002c0075t0003g0085	1	256	0.0039	36	c.323 others(53): Show c.3234+845_3234+846insTCCACCATCACCACCACCACCTCCACCA TCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400354	T T	TCCACCAT others(29): Show TCCACCATCACCACCACCTCCACCATCACCACCACCA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0078 a0007c0009t0001g0078	1	256	0.0039	36	c.323 others(55): Show c.3234+1097_3234+1098insACCATCACCACCACCTCCACCATCAC CACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400409	C C	CCACCACT others(29): Show CCACCACTTCCTTCACCACCACCACCATCTTCACCGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0041 a0041	a0041c0053 a0041c0053	a0041c0053t0001 a0041c0053t0001	a0041c0053t0001g0101 a0041c0053t0001g0101	1	256	0.0039	36	c.323 others(55): Show c.3234+1156_3234+1157insTTCCTTCACCACCACCACCATCTTCA CCGTCACCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(29): Show CCACCACCACCTCCACCACCACCAGCATCTTCACCAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0018 a0018	a0018c0085 a0018c0085	a0018c0085t0006 a0018c0085t0006	a0018c0085t0006g0029 a0018c0085t0006g0029	1	256	0.0039	36	c.323 others(55): Show c.3234+1484_3234+1519dupGCATCTTCACCATCACCACCACCTCC ACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400779	C C	CCTCCACC others(29): Show CCTCCACCACCAGCACTTCCACCATCACCACCTCCTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0137 a0003c0004t0001g0137	1	256	0.0039	36	c.323 others(55): Show c.3234+1521_3234+1522insTCCACCACCAGCACTTCCACCATCAC CACCTCCTTC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	470187	G G	GGGTAGGG others(29): Show GGGTAGGGGCGTGGGGGAGTTACTGAGCATGCGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0045 a0045	a0045c0038 a0045c0038	a0045c0038t0001 a0045c0038t0001	a0045c0038t0001g0026 a0045c0038t0001g0026	1	256	0.0039	36	c.59 others(47): Show c.5968_*5969insGGTAGGGGCGTGGGGGAGTTACTGAGCATGCGCC CA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding		4933		chr9	TogoVar
DOCK8_chr9_209865_470255	470225	G G	GTAGGGGC others(29): Show GTAGGGGCGAGGGGGAGTTACTGAGCATGCGCCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02622.hp2 HG02922.hp2 others(2): Show HG02257.hp1 HG02622.hp2 HG02922.hp2 HG03540.hp2 NA20129.hp1	a0001 a0008 a0034 others(1): Show a0001 a0008 a0034 a0053	a0001c0036 a0001c0064 a0008c0117 others(2): Show a0001c0036 a0001c0064 a0008c0117 a0034c0087 a0053c0139	a0001c0036t0001 a0001c0064t0001 a0008c0117t0001 others(2): Show a0001c0036t0001 a0001c0064t0001 a0008c0117t0001 a0034c0087t0001 a0053c0139t0003	a0001c0036t0001g0033 a0001c0064t0001g0032 a0008c0117t0001g0016 others(2): Show a0001c0036t0001g0033 a0001c0064t0001g0032 a0008c0117t0001g0016 a0034c0087t0001g0083 a0053c0139t0003g0177	5	256	0.0195	36	c.60 others(47): Show c.6006_*6007insTAGGGGCGAGGGGGAGTTACTGAGCATGCGCCCG CC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding		4971		chr9	TogoVar
DOK5_chr20_54470593_54656169	54534819	G G	GTTTCTTT others(29): Show GTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp2 HG01891.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0001 a0001c0001t0018 a0001c0002t0001	a0001c0001t0018g0100 a0001c0002t0001g0118 a0001c0001t0018g0100 a0001c0002t0001g0118	2	130	0.0154	36	c.67- others(53): Show c.67-20083_67-20082insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK6_chr18_69395888_69854087	69700216	C C	CATATATA others(29): Show CATATATATATATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0003 a0001c0001t0043g0003	1	170	0.0059	36	c.599 others(53): Show c.599+1640_599+1641insCATATATATATATATATATATATATATA TATATATA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69774133	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0097 a0001c0003t0097	a0001c0003t0097g0089 a0001c0003t0097g0089	1	170	0.0059	36	c.856 others(55): Show c.856+16283_856+16284insTATATATATATATATATATATATATA TATATATATA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69828882	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0083 a0001c0003t0083	a0001c0003t0083g0149 a0001c0003t0083g0149	1	170	0.0059	36	c.857 others(55): Show c.857-12361_857-12360insATATATATATATATATATATATATAT ATATATATAT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69828884	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG03486.hp1 others(2): Show HG01081.hp1 HG01884.hp1 HG03486.hp1 NA18983.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0041 a0001c0002t0012 others(2): Show a0001c0001t0001 a0001c0001t0041 a0001c0002t0012 a0001c0003t0003 a0001c0003t0090	a0001c0001t0001g0065 a0001c0001t0041g0077 a0001c0002t0012g0052 others(2): Show a0001c0001t0001g0065 a0001c0001t0041g0077 a0001c0002t0012g0052 a0001c0003t0003g0108 a0001c0003t0090g0027	5	170	0.0294	36	c.857 others(55): Show c.857-12344_857-12343insTATATATATATATATATATATATATA TATATATATA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK7_chr4_3458306_3499482	3491174	T T	TTCATTCC others(29): Show TTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04115.hp2 HG03669.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0206 a0001c0001t0002g0145 a0001c0001t0002g0206	2	404	0.0050	36	c.772 others(53): Show c.772+1390_772+1425dupCCCCTGCTCATTCCTTCCCCCCTGCTCA TTCCTTCC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3491415	T T	TTCCCCTG others(29): Show TTCCCCTGCTCATTCATTCCTTCCTGCTCACCCCAGC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0348 a0001c0001t0003g0348	1	404	0.0025	36	c.773 others(53): Show c.773-1343_773-1342insCCCCTGCTCATTCATTCCTTCCTGCTCA CCCCAGCT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DONSON_chr21_33572551_33593684	33583200	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0316 a0001c0001t0020g0316	1	426	0.0024	36	c.964 others(51): Show c.964+287_964+288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	5/9			chr21	TogoVar
DOT1L_chr19_2158933_2237578	2201103	G G	GCATTCCT others(29): Show GCATTCCTCGTCCTCCCCGCATTCCTCGTCGTCCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02145.hp2 HG02559.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0314 a0002c0014t0003g0316 a0002c0014t0003g0314 a0002c0014t0003g0316	2	378	0.0053	36	c.707 others(53): Show c.707+1193_707+1194insGTCCCCTCATTCCTCGTCCTCCCCGCAT TCCTCGTC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPEP1_chr16_89608642_89643433	89618926	C C	CCCTGCAG others(29): Show CCCTGCAGCCCCCTGCCCCCCCCCGGCTCCCCCTCCT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	250	0.0040	36	c.-10 others(55): Show c.-107+5215_-107+5216insCCCCTGCCCCCCCCCGGCTCCCCCTC CTCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP2NB_chr16_68008436_68020911	68020851	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATACGTATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	36	c.-50 others(47): Show c.-5082_-5081insTACATACGTATATATATATATATATATATATATA TA	DPEP2NB	ENSG00000263201.1	transcript	ENST00000574912.1	protein_coding		4941		chr16	TogoVar
DPF3_chr14_72604034_72899101	72756906	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0118 a0001c0002t0005g0118	1	234	0.0043	36	c.194 others(53): Show c.194-3536_194-3535insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72884940	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02818.hp2 NA19005.hp2 others(1): Show HG01516.hp1 HG02818.hp2 NA19005.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0175 a0001c0001t0002g0054 a0001c0001t0003g0218 others(1): Show a0001c0001t0001g0175 a0001c0001t0002g0054 a0001c0001t0003g0218 a0001c0001t0008g0045	4	234	0.0171	36	c.32+ others(51): Show c.32+9116_32+9117insTATATATATATATATATATATATATATATA TATATA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72884953	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03704.hp1 NA18612.hp2 others(1): Show HG02148.hp2 HG03704.hp1 NA18612.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 others(1): Show a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0002t0012	a0001c0001t0003g0165 a0001c0001t0017g0145 a0001c0001t0018g0093 others(1): Show a0001c0001t0003g0165 a0001c0001t0017g0145 a0001c0001t0018g0093 a0001c0002t0012g0104	4	234	0.0171	36	c.32+ others(51): Show c.32+9103_32+9104insGTATATATATATATATATATATATATATAT ATATAT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp1 HG02559.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	228	0.0088	36	c.312 others(55): Show c.312+41706_312+41707insATATATATATATATATATTTTTTTTT TTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp1 HG03579.hp2 HG02486.hp1 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0001g0214 a0001c0001t0002g0035 a0001c0001t0001g0033 a0001c0001t0001g0214 a0001c0001t0002g0035	3	228	0.0132	36	c.312 others(55): Show c.312+41706_312+41707insATATATATATATATATATATTTTTTT TTTTTTTTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	228	0.0044	36	c.312 others(55): Show c.312+41706_312+41707insATATATATATATATATATATATATAT ATATATATAT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPP10_chr2_114437641_115850780	114663668	T T	TATATATA others(29): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0024 a0001c0002t0013g0024	1	56	0.0179	36	c.60+ others(55): Show c.60+220831_60+220832insTATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114663668	T T	TATATATA others(29): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	56	0.0179	36	c.60+ others(55): Show c.60+220831_60+220832insTATATATATATATATAGAGAGAGAGA GAGAGAGAGA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar

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