Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DOCK2_chr5_169632275_170088382	169807833	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0075 a0001c0007t0001g0075	1	184	0.0054	26	c.270 others(45): Show c.2703+4628_2703+4653dupAAAAAAAAAAAAAAAAAAAAAAAAAA	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	26/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK3_chr3_50669927_51389198	50698517	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	212	0.0047	26	c.37+ others(43): Show c.37+23242_37+23243insTTTTTTTTTTTTTTTTTTTTTTTTTT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	1/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	51281274	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	212	0.0047	26	c.292 others(45): Show c.2922+1077_2922+1102dupATATATATATATATATATATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	27/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	51281297	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0187	1	212	0.0047	26	c.292 others(45): Show c.2922+1102_2922+1103insATATATATATATATATGTATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	27/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	51346575	T T	TTGTGAAT others(19): Show TTGTGAATGTGCTGCAATAAACATACG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	212	0.0047	26	c.391 others(45): Show c.3916-2272_3916-2247dupAATGTGCTGCAATAAACATACGTGTG	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	38/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK4_chr7_111721110_112211399	111791276	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp2 HG02451.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0050 a0001c0001t0001g0008 a0001c0001t0001g0050	2	106	0.0189	26	c.316 others(43): Show c.3167-697_3167-672dupGTGTGTGTGTGTGTGTGTGTGTGTGT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	30/52			chr7	TogoVar
DOCK4_chr7_111721110_112211399	111983854	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	106	0.0094	26	c.549 others(41): Show c.549+451_549+452insTGTGTGTGTGTGTGTGTGTGTGTGTG	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	7/52			chr7	TogoVar
DOCK4_chr7_111721110_112211399	111983862	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	106	0.0094	26	c.549 others(41): Show c.549+443_549+444insTGTGTGTGTGTGTGTGTGTGTGTGTG	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	7/52			chr7	TogoVar
DOCK5_chr8_25179689_25420711	25183208	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01070.hp2 HG01168.hp1 others(4): Show HG00733.hp1 HG01070.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG02148.hp2 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0016 a0002c0006 a0002c0007	a0001c0002t0004 a0001c0003t0007 a0001c0005t0033 others(3): Show a0001c0002t0004 a0001c0003t0007 a0001c0005t0033 a0001c0016t0001 a0002c0006t0002 a0002c0007t0002	a0001c0002t0004g0109 a0001c0003t0007g0103 a0001c0005t0033g0098 others(4): Show a0001c0002t0004g0109 a0001c0003t0007g0103 a0001c0005t0033g0098 a0001c0016t0001g0107 a0002c0006t0002g0110 a0002c0006t0002g0117 a0002c0007t0002g0099	7	210	0.0333	26	c.-17 others(37): Show c.-1701_-1700insTTTTTTTTTTTTTTTTTTTTTTTTTT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding		1480		chr8	TogoVar
DOCK5_chr8_25179689_25420711	25187222	T T	TATATATA others(19): Show TATATATACGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0167 a0001c0002t0015g0167	1	210	0.0048	26	c.43+ others(41): Show c.43+2273_43+2298dupTATATACGTATATATATATATACACA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216636	T T	TGTATACA others(19): Show TGTATACAATATGTATATATGTATACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0065 a0001c0020t0065	a0001c0020t0065g0164 a0001c0020t0065g0164	1	210	0.0048	26	c.44- others(43): Show c.44-27038_44-27037insGTATACAATATGTATATATGTATACA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51			chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216668	T T	TGTATACA others(19): Show TGTATACAATATGTATATATGTATACA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02257.hp1 HG02148.hp1 HG02257.hp1	a0001 a0001	a0001c0026 a0001c0040 a0001c0026 a0001c0040	a0001c0026t0001 a0001c0040t0029 a0001c0026t0001 a0001c0040t0029	a0001c0026t0001g0062 a0001c0040t0029g0061 a0001c0026t0001g0062 a0001c0040t0029g0061	2	210	0.0095	26	c.44- others(43): Show c.44-27006_44-27005insGTATACAATATGTATATATGTATACA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51			chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216700	T T	TGTATACA others(19): Show TGTATACAATATGTATATATGTATACA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0027 a0001c0020t0027	a0001c0020t0027g0063 a0001c0020t0027g0063	1	210	0.0048	26	c.44- others(43): Show c.44-26974_44-26973insGTATACAATATGTATATATGTATACA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51			chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216732	T T	TGTATACA others(19): Show TGTATACAATATGTATATATGTATACA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01496.hp2 HG01952.hp1 others(3): Show HG01257.hp2 HG01496.hp2 HG01952.hp1 HG02083.hp2 HG02148.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0040 a0001c0001 a0001c0011 a0001c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0011t0008 a0001c0040t0029	a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0002g0076 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0002g0076 a0001c0001t0007g0078 a0001c0011t0008g0075 a0001c0040t0029g0061	6	210	0.0286	26	c.44- others(43): Show c.44-26942_44-26941insGTATACAATATGTATATATGTATACA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51			chr8	TogoVar
DOCK5_chr8_25179689_25420711	25410938	A A	AGAGAGAG others(19): Show AGAGAGAGAAAATGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01257.hp1 HG02155.hp1 others(3): Show HG00438.hp2 HG01257.hp1 HG02155.hp1 HG02523.hp2 HG03239.hp1 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0006 others(1): Show a0001c0001 a0001c0005 a0002c0006 a0002c0007	a0001c0001t0009 a0001c0005t0002 a0002c0006t0002 others(3): Show a0001c0001t0009 a0001c0005t0002 a0002c0006t0002 a0002c0006t0076 a0002c0007t0002 a0002c0007t0042	a0001c0001t0009g0197 a0001c0005t0002g0066 a0002c0006t0002g0115 others(3): Show a0001c0001t0009g0197 a0001c0005t0002g0066 a0002c0006t0002g0115 a0002c0006t0076g0081 a0002c0007t0002g0056 a0002c0007t0042g0186	6	210	0.0286	26	c.550 others(43): Show c.5509-256_5509-255insGAGAGAGAAAATGTGTGTGTGTGTGT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	51/51			chr8	TogoVar
DOCK6_chr19_11194295_11267524	11224216	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0206 a0001c0002t0001g0206	1	314	0.0032	26	c.295 others(45): Show c.2956-1111_2956-1110insGAAAGAAAGAAAGAAAGAAAGAAAGA	DOCK6	ENSG00000130158.14	transcript	ENST00000294618.12	protein_coding	24/47			chr19	TogoVar
DOCK6_chr19_11194295_11267524	11260882	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03579.hp1 HG01891.hp2 HG03579.hp1	a0010 a0026 a0010 a0026	a0010c0017 a0026c0043 a0010c0017 a0026c0043	a0010c0017t0001 a0026c0043t0001 a0010c0017t0001 a0026c0043t0001	a0010c0017t0001g0038 a0026c0043t0001g0039 a0010c0017t0001g0038 a0026c0043t0001g0039	2	314	0.0064	26	c.44+ others(41): Show c.44+1514_44+1515insTTTTTTTTTTTTTTTTTTTTTTTTTT	DOCK6	ENSG00000130158.14	transcript	ENST00000294618.12	protein_coding	1/47			chr19	TogoVar
DOCK7_chr1_62449726_62693386	62524931	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02559.hp1 HG02818.hp1 HG01978.hp2 HG02559.hp1 HG02818.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0002t0002 a0003c0006t0001 a0001c0001t0001 a0001c0002t0002 a0003c0006t0001	a0001c0001t0001g0110 a0001c0002t0002g0031 a0003c0006t0001g0108 a0001c0001t0001g0110 a0001c0002t0002g0031 a0003c0006t0001g0108	3	228	0.0132	26	c.393 others(45): Show c.3936+3219_3936+3220insTATATATATATATATATATATATATA	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	31/49			chr1	TogoVar
DOCK7_chr1_62449726_62693386	62687373	T T	TCAATCAC others(19): Show TCAATCACTTGCTTTACTTCAAGACTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	228	0.0044	26	c.38+ others(39): Show c.38+828_38+853dupCAGTCTTGAAGTAAAGCAAGTGATTG	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	1/49			chr1	TogoVar
DOCK8_chr9_209865_470255	415692	G G	GCACACAC others(19): Show GCACACACGCACACACGCACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp1 NA19043.hp2 HG02257.hp2 HG02615.hp1 NA19043.hp2	a0002 a0004 a0047 a0002 a0004 a0047	a0002c0097 a0004c0039 a0047c0146 a0002c0097 a0004c0039 a0047c0146	a0002c0097t0002 a0004c0039t0004 a0047c0146t0001 a0002c0097t0002 a0004c0039t0004 a0047c0146t0001	a0002c0097t0002g0121 a0004c0039t0004g0056 a0047c0146t0001g0013 a0002c0097t0002g0121 a0004c0039t0004g0056 a0047c0146t0001g0013	3	256	0.0117	26	c.370 others(43): Show c.3700+748_3700+749insGCACACACGCACACACACACACACAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	29/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK9_chr13_98788429_98983064	98887125	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19086.hp1 HG00423.hp1 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0030 a0001c0003 a0001c0030	a0001c0003t0002 a0001c0030t0001 a0001c0003t0002 a0001c0030t0001	a0001c0003t0002g0110 a0001c0030t0001g0083 a0001c0003t0002g0110 a0001c0030t0001g0083	2	348	0.0058	26	c.204 others(43): Show c.2044-502_2044-501insTATATATATATATATATATATATATA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	18/52			chr13	TogoVar
DOK5_chr20_54470593_54656169	54646248	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0116 a0001c0001t0014g0116	1	130	0.0077	26	c.856 others(43): Show c.856+2694_856+2695insTTTTTTTTTTTTTTTTTTTTTTTTTT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK6_chr18_69395888_69854087	69617725	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0110 a0001c0001t0013g0110	1	170	0.0059	26	c.289 others(45): Show c.289+18228_289+18229insGAAAGAAAGAAAGAAAGAAAGAAAGA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69659867	A A	AAACATAT others(19): Show AAACATATATGTATGTTTTATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG02615.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0058 a0001c0002t0028 a0001c0001t0058 a0001c0002t0028	a0001c0001t0058g0025 a0001c0002t0028g0156 a0001c0001t0058g0025 a0001c0002t0028g0156	2	170	0.0118	26	c.290 others(45): Show c.290-17787_290-17762dupACATATATGTATGTTTTATATATATA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69700216	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG03139.hp1 others(2): Show HG02145.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0001t0025 a0001c0001t0038 others(2): Show a0001c0001t0022 a0001c0001t0025 a0001c0001t0038 a0001c0001t0108 a0001c0002t0066	a0001c0001t0022g0061 a0001c0001t0025g0023 a0001c0001t0038g0058 others(2): Show a0001c0001t0022g0061 a0001c0001t0025g0023 a0001c0001t0038g0058 a0001c0001t0108g0017 a0001c0002t0066g0164	5	170	0.0294	26	c.599 others(43): Show c.599+1641_599+1642insATATATATATATATATATATATATAT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69774133	G G	GAGATATA others(19): Show GAGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0143 a0001c0001t0067g0143	1	170	0.0059	26	c.856 others(45): Show c.856+16261_856+16262insGATATATATATATATATATATATATA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69774133	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01517.hp1 HG02055.hp2 others(4): Show HG01071.hp1 HG01517.hp1 HG02055.hp2 HG03486.hp1 NA18966.hp1 NA18968.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0015 a0001c0001t0040 others(4): Show a0001c0001t0013 a0001c0001t0015 a0001c0001t0040 a0001c0001t0041 a0001c0002t0047 a0001c0002t0084 a0001c0002t0095	a0001c0001t0013g0069 a0001c0001t0015g0034 a0001c0001t0040g0153 others(4): Show a0001c0001t0013g0069 a0001c0001t0015g0034 a0001c0001t0040g0153 a0001c0001t0041g0077 a0001c0002t0047g0105 a0001c0002t0084g0128 a0001c0002t0095g0094	7	170	0.0412	26	c.856 others(45): Show c.856+16283_856+16284insTATATATATATATATATATATATATA	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(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG04204.hp2 HG00738.hp1 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0096 a0001c0003t0002 a0001c0002t0096 a0001c0003t0002	a0001c0002t0096g0087 a0001c0003t0002g0111 a0001c0002t0096g0087 a0001c0003t0002g0111	2	170	0.0118	26	c.857 others(45): Show c.857-12344_857-12343insTATATATATATATATATATATATATA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69851192	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01071.hp1 HG01175.hp2 others(3): Show HG00642.hp1 HG01071.hp1 HG01175.hp2 HG01358.hp1 NA19000.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0001t0035 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0035 a0001c0001t0085 a0001c0002t0010	a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0013g0069 others(3): Show a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0013g0069 a0001c0001t0035g0136 a0001c0001t0085g0127 a0001c0002t0010g0117	6	170	0.0353	26	c.98 others(37): Show c.9809_*9810insTTTTTTTTTTTTTTTTTTTTTTTTTT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding		2106		chr18	TogoVar
DOK7_chr4_3458306_3499482	3476130	A A	ATGATGCC others(19): Show ATGATGCCCTCTCGCCCCGCCTGACCG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0236 a0001c0001t0005g0236	1	404	0.0025	26	c.332 others(41): Show c.332-191_332-166dupTGACCGTGATGCCCTCTCGCCCCGCC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3476247	A A	ACCCCACC others(19): Show ACCCCACCTGCCCGTGATGCCCTCTTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02027.hp1 HG02027.hp2 others(13): Show HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02155.hp2 HG02486.hp1 HG02559.hp1 HG03130.hp1 HG03486.hp2 NA19005.hp1 NA19090.hp2 NA20300.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0023	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0023c0014	a0001c0001t0002 a0003c0003t0004 a0004c0004t0006 others(2): Show a0001c0001t0002 a0003c0003t0004 a0004c0004t0006 a0004c0004t0015 a0023c0014t0006	a0001c0001t0002g0121 a0001c0001t0002g0170 a0001c0001t0002g0224 others(13): Show a0001c0001t0002g0121 a0001c0001t0002g0170 a0001c0001t0002g0224 a0001c0001t0002g0252 a0001c0001t0002g0317 a0003c0003t0004g0095 a0003c0003t0004g0110 a0003c0003t0004g0218 a0003c0003t0004g0219 a0003c0003t0004g0220 a0003c0003t0004g0221 a0003c0003t0004g0314 a0003c0003t0004g0373 a0004c0004t0006g0119 a0004c0004t0015g0120 a0023c0014t0006g0363	16	404	0.0396	26	c.332 others(39): Show c.332-88_332-87insTGCCCGTGATGCCCTCTTGCCCCACC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3476286	G G	GTGATGCC others(19): Show GTGATGCCCTCTCGCCCCACCCGCCCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0228 a0001c0001t0005g0228	1	404	0.0025	26	c.332 others(39): Show c.332-51_332-50insCCCTCTCGCCCCACCCGCCCATGATG	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490110	C C	CCTCATTC others(19): Show CCTCATTCATTCCTTTCTTCACCCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG00738.hp2 others(14): Show HG00099.hp2 HG00735.hp1 HG00738.hp2 HG01516.hp2 HG01891.hp1 HG02129.hp1 HG02155.hp2 HG02559.hp1 HG02723.hp2 HG03486.hp2 HG03654.hp1 NA18945.hp2 NA18962.hp2 NA18991.hp1 NA18994.hp1 NA19074.hp1 NA19088.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0023	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0023c0014	a0001c0001t0002 a0001c0001t0003 a0003c0003t0033 others(3): Show a0001c0001t0002 a0001c0001t0003 a0003c0003t0033 a0004c0004t0006 a0004c0004t0015 a0023c0014t0006	a0001c0001t0002g0057 a0001c0001t0002g0136 a0001c0001t0003g0023 others(13): Show a0001c0001t0002g0057 a0001c0001t0002g0136 a0001c0001t0003g0023 a0001c0001t0003g0182 a0001c0001t0003g0296 a0001c0001t0003g0353 a0003c0003t0033g0086 a0004c0004t0006g0119 a0004c0004t0006g0163 a0004c0004t0006g0166 a0004c0004t0006g0174 a0004c0004t0006g0238 a0004c0004t0006g0239 a0004c0004t0006g0292 a0004c0004t0015g0120 a0023c0014t0006g0363	17	404	0.0421	26	c.772 others(41): Show c.772+315_772+316insTCATTCATTCCTTTCTTCACCCCCTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DOK7_chr4_3458306_3499482	3490111	C C	CTCATTCA others(19): Show CTCATTCATTCCTTTCTTCACCCCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	404	0.0025	26	c.772 others(41): Show c.772+315_772+316insTCATTCATTCCTTTCTTCACCCCCTT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6			chr4	TogoVar
DOK7_chr4_3458306_3499482	3490398	C C	CCTTCATT others(19): Show CCTTCATTACCCTCCTGCTCATTCATT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	404	0.0025	26	c.772 others(41): Show c.772+606_772+607insATTACCCTCCTGCTCATTCATTCTTC	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(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0247 a0001c0001t0098g0247	1	426	0.0024	26	c.964 others(41): Show c.964+287_964+288insTTTTTTTTTTTTTTTTTTTTTTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	5/9			chr21	TogoVar
DOP1B_chr21_36151824_36299274	36176097	C C	CATGTGTG others(19): Show CATGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01496.hp2 HG01928.hp1 others(7): Show HG01069.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG02273.hp1 HG02965.hp2 HG03471.hp1 HG03540.hp1 HG03654.hp1 NA21309.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0036 a0005c0017 a0006c0009	a0001c0002t0001 a0001c0003t0003 a0001c0005t0001 others(3): Show a0001c0002t0001 a0001c0003t0003 a0001c0005t0001 a0001c0036t0003 a0005c0017t0001 a0006c0009t0001	a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0155 others(7): Show a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0155 a0001c0003t0003g0137 a0001c0003t0003g0140 a0001c0005t0001g0266 a0001c0036t0003g0145 a0005c0017t0001g0264 a0006c0009t0001g0262 a0006c0009t0001g0278	10	292	0.0343	26	c.138 others(45): Show c.138+11226_138+11227insATGTGTGTGTGTGTGTGTGTGTGTGT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	2/36			chr21	TogoVar
DOP1B_chr21_36151824_36299274	36176097	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0082 a0011c0018t0001g0083 a0011c0018t0001g0082 a0011c0018t0001g0083	2	292	0.0069	26	c.138 others(45): Show c.138+11251_138+11252insTGTGTGTGTGTGTGTGTGTGTGTGTG	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DPAGT1_chr11_119091510_119106853	119105864	G G	GGGAAAGC others(19): Show GGGAAAGCTTCTACCTGGACAACTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	422	0.0024	26	c.-42 others(37): Show c.-4235_-4210dupGGAAGTTGTCCAGGTAGAAGCTTTCC	DPAGT1	ENSG00000172269.20	transcript	ENST00000354202.9	protein_coding		4012		chr11	TogoVar
DPEP2NB_chr16_68008436_68020911	68020795	A A	ATATATGT others(19): Show ATATATGTATATATATATATGTATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02630.hp2 HG03139.hp2 HG02145.hp1 HG02630.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	3	362	0.0083	26	c.-50 others(37): Show c.-5026_-5025insCACATACATATATATATATACATATA	DPEP2NB	ENSG00000263201.1	transcript	ENST00000574912.1	protein_coding		4885		chr16	TogoVar
DPEP2NB_chr16_68008436_68020911	68020855	A A	ATATATAT others(19): Show ATATATATATATATATATATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	26	c.-51 others(37): Show c.-5111_-5086dupCGTATATATATATATATATATATATA	DPEP2NB	ENSG00000263201.1	transcript	ENST00000574912.1	protein_coding		4945		chr16	TogoVar
DPF3_chr14_72604034_72899101	72756864	G G	GGAAGGAA others(19): Show GGAAGGAAAGAAGGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0125 a0001c0001t0010g0125	1	234	0.0043	26	c.194 others(43): Show c.194-3494_194-3493insTCTTTCTTTCTTTCCTTCTTTCCTTC	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72756928	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02486.hp1 others(1): Show HG01891.hp2 HG02280.hp1 HG02486.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0035 a0001c0001t0005 a0001c0001t0011 a0001c0001t0035	a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0011g0192 others(1): Show a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0011g0192 a0001c0001t0035g0112	4	234	0.0171	26	c.194 others(43): Show c.194-3558_194-3557insCTTCTCTTCTTTCTTTCTTTCTTTCT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72805051	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01891.hp2 HG02015.hp1 others(7): Show HG00733.hp1 HG01891.hp2 HG02015.hp1 HG02165.hp1 NA18747.hp1 NA18960.hp2 NA18980.hp2 NA19057.hp1 NA19063.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0042 a0001c0001t0095 a0001c0002t0017 a0001c0002t0047	a0001c0001t0001g0083 a0001c0001t0001g0216 a0001c0001t0001g0223 others(7): Show a0001c0001t0001g0083 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0002g0038 a0001c0001t0007g0082 a0001c0001t0011g0192 a0001c0001t0042g0204 a0001c0001t0095g0176 a0001c0002t0017g0217 a0001c0002t0047g0207	10	234	0.0427	26	c.33- others(43): Show c.33-33159_33-33158insGTGTGTGTGTGTGTGTGTGTGTGTGT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72838898	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp2 HG03041.hp2 others(2): Show HG00741.hp2 HG01516.hp2 HG03041.hp2 HG03130.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0092 a0001c0001t0099 others(2): Show a0001c0001t0001 a0001c0001t0092 a0001c0001t0099 a0001c0002t0102 a0002c0004t0004	a0001c0001t0001g0024 a0001c0001t0092g0169 a0001c0001t0099g0184 others(2): Show a0001c0001t0001g0024 a0001c0001t0092g0169 a0001c0001t0099g0184 a0001c0002t0102g0027 a0002c0004t0004g0111	5	234	0.0214	26	c.32+ others(43): Show c.32+55158_32+55159insATATATATATATATATATATATATAT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72838905	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0180 a0001c0001t0037g0180	1	234	0.0043	26	c.32+ others(43): Show c.32+55151_32+55152insAATATATATATATATATATATATATA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72853034	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0217 a0001c0002t0017g0217	1	234	0.0043	26	c.32+ others(43): Show c.32+41022_32+41023insACACACACACACACACACACACACAC	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72861737	G G	GAGAAAGA others(19): Show GAGAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0231 a0001c0001t0006g0231	1	234	0.0043	26	c.32+ others(43): Show c.32+32319_32+32320insTTCTTTCTTTCTTTCTCTTTCTTTCT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72884940	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp1 HG02109.hp2 others(8): Show HG01167.hp2 HG01261.hp1 HG02109.hp2 HG02897.hp1 HG03486.hp2 HG03688.hp2 HG04115.hp1 NA18747.hp2 NA18946.hp1 NA18961.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051	a0001c0001t0001g0197 a0001c0001t0002g0215 a0001c0001t0003g0050 others(8): Show a0001c0001t0001g0197 a0001c0001t0002g0215 a0001c0001t0003g0050 a0001c0001t0013g0061 a0001c0001t0015g0211 a0001c0001t0019g0228 a0001c0001t0022g0069 a0001c0001t0024g0001 a0001c0001t0048g0167 a0001c0001t0049g0209 a0001c0001t0051g0208	11	234	0.0470	26	c.32+ others(41): Show c.32+9091_32+9116dupTATATATATATATATATATATATATA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72884944	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	234	0.0043	26	c.32+ others(41): Show c.32+9112_32+9113insCATATATATATATATATATATATATA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar

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