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
DOCK5_chr8_25179689_25420711	25215932	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0085 a0001c0005t0085	a0001c0005t0085g0004 a0001c0005t0085g0004	1	210	0.0048	-14	c.44- others(31): Show c.44-27715_44-27702delACACACACACACAC	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25239327	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02004.hp1 HG02486.hp1 others(2): Show HG00733.hp2 HG02004.hp1 HG02486.hp1 HG02886.hp2 HG02976.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0005 a0001c0009 others(1): Show a0001c0003 a0001c0005 a0001c0009 a0003c0052	a0001c0003t0028 a0001c0005t0023 a0001c0005t0033 others(2): Show a0001c0003t0028 a0001c0005t0023 a0001c0005t0033 a0001c0009t0053 a0003c0052t0039	a0001c0003t0028g0127 a0001c0005t0023g0171 a0001c0005t0033g0128 others(2): Show a0001c0003t0028g0127 a0001c0005t0023g0171 a0001c0005t0033g0128 a0001c0009t0053g0190 a0003c0052t0039g0019	5	210	0.0238	-14	c.44- others(29): Show c.44-4333_44-4320delATGTGTGTGTGTGT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25246704	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02004.hp1 HG02280.hp1 others(7): Show HG00738.hp2 HG02004.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02886.hp2 HG02976.hp1 HG03491.hp1 HG03492.hp1 HG04184.hp1	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0013	a0001c0003 a0001c0004 a0001c0005 others(5): Show a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0049 a0004c0047 a0007c0021 a0013c0043	a0001c0003t0028 a0001c0004t0003 a0001c0005t0023 others(6): Show a0001c0003t0028 a0001c0004t0003 a0001c0005t0023 a0001c0005t0033 a0001c0009t0053 a0001c0049t0058 a0004c0047t0008 a0007c0021t0001 a0013c0043t0010	a0001c0003t0028g0127 a0001c0004t0003g0012 a0001c0005t0023g0171 others(7): Show a0001c0003t0028g0127 a0001c0004t0003g0012 a0001c0005t0023g0171 a0001c0005t0033g0128 a0001c0009t0053g0190 a0001c0049t0058g0009 a0004c0047t0008g0021 a0007c0021t0001g0041 a0007c0021t0001g0131 a0013c0043t0010g0200	10	210	0.0476	-14	c.127 others(31): Show c.127+2986_127+2999delTGTGTGTGTGTGTG	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	2/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25282849	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0015 a0015	a0015c0036 a0015c0036	a0015c0036t0068 a0015c0036t0068	a0015c0036t0068g0153 a0015c0036t0068g0153	1	210	0.0048	-14	c.321 others(31): Show c.321+4202_321+4215delAAAAAAAAAAAAAA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	5/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25331230	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03831.hp1 HG03688.hp2 HG03831.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0034 a0008c0024t0034	a0008c0024t0034g0026 a0008c0024t0034g0033 a0008c0024t0034g0026 a0008c0024t0034g0033	2	210	0.0095	-14	c.190 others(31): Show c.1904-993_1904-980delCACACACACACACA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	18/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25331799	TATAGAGA others(7): Show TATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02145.hp1 others(2): Show HG00639.hp1 HG02055.hp2 HG02145.hp1 HG02622.hp2 HG03516.hp1	a0001 a0009 a0018 a0001 a0009 a0018	a0001c0002 a0001c0012 a0009c0055 others(1): Show a0001c0002 a0001c0012 a0009c0055 a0018c0054	a0001c0002t0015 a0001c0012t0005 a0001c0012t0046 others(2): Show a0001c0002t0015 a0001c0012t0005 a0001c0012t0046 a0009c0055t0005 a0018c0054t0001	a0001c0002t0015g0152 a0001c0012t0005g0148 a0001c0012t0046g0006 others(2): Show a0001c0002t0015g0152 a0001c0012t0005g0148 a0001c0012t0046g0006 a0009c0055t0005g0073 a0018c0054t0001g0159	5	210	0.0238	-14	c.190 others(31): Show c.1904-450_1904-437delTAGAGAGAGAGAGA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	18/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25354039	AAAAAAAA others(7): Show AAAAAAAAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0152 a0001c0002t0015g0152	1	210	0.0048	-14	c.285 others(33): Show c.2850+2223_2850+2236delCAAACAAAAAAAAA	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	27/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25356907	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02622.hp2 others(7): Show HG01243.hp2 HG01891.hp1 HG02622.hp2 HG02717.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0014 a0003c0053	a0001c0001t0001 a0001c0002t0005 a0001c0002t0015 others(7): Show a0001c0001t0001 a0001c0002t0005 a0001c0002t0015 a0001c0002t0028 a0001c0002t0081 a0001c0003t0004 a0001c0005t0008 a0001c0009t0059 a0001c0014t0012 a0003c0053t0010	a0001c0001t0001g0147 a0001c0002t0005g0144 a0001c0002t0015g0152 others(7): Show a0001c0001t0001g0147 a0001c0002t0005g0144 a0001c0002t0015g0152 a0001c0002t0028g0154 a0001c0002t0081g0126 a0001c0003t0004g0121 a0001c0005t0008g0122 a0001c0009t0059g0008 a0001c0014t0012g0181 a0003c0053t0010g0205	10	210	0.0476	-14	c.285 others(33): Show c.2851-2030_2851-2017delATATATATATATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	27/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25391197	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02451.hp2 HG02622.hp2 others(8): Show HG02293.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03516.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0002 a0001c0003 a0001c0014 others(4): Show a0001c0002 a0001c0003 a0001c0014 a0001c0031 a0003c0019 a0004c0038 a0006c0022	a0001c0002t0015 a0001c0002t0028 a0001c0002t0084 others(7): Show a0001c0002t0015 a0001c0002t0028 a0001c0002t0084 a0001c0003t0075 a0001c0014t0015 a0001c0031t0030 a0003c0019t0021 a0004c0038t0030 a0006c0022t0011 a0006c0022t0083	a0001c0002t0015g0152 a0001c0002t0015g0167 a0001c0002t0028g0154 others(8): Show a0001c0002t0015g0152 a0001c0002t0015g0167 a0001c0002t0028g0154 a0001c0002t0084g0001 a0001c0003t0075g0071 a0001c0014t0015g0165 a0001c0031t0030g0151 a0003c0019t0021g0206 a0004c0038t0030g0015 a0006c0022t0011g0179 a0006c0022t0083g0002	11	210	0.0524	-14	c.435 others(31): Show c.4356-659_4356-646delGTGTGTGTGTGTGT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25396763	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19085.hp2 HG00438.hp1 NA19085.hp2	a0001 a0005 a0001 a0005	a0001c0008 a0005c0037 a0001c0008 a0005c0037	a0001c0008t0047 a0005c0037t0071 a0001c0008t0047 a0005c0037t0071	a0001c0008t0047g0195 a0005c0037t0071g0137 a0001c0008t0047g0195 a0005c0037t0071g0137	2	210	0.0095	-14	c.470 others(33): Show c.4704+1067_4704+1080delGTGTGTGTGTGTGT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	45/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK7_chr1_62449726_62693386	62483174	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	228	0.0044	-14	c.550 others(33): Show c.5508+4210_5508+4223delAAAAAAAAAAAAAA	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	43/49			chr1	TogoVar
DOCK7_chr1_62449726_62693386	62563863	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp1 HG02895.hp2 others(5): Show HG02257.hp2 HG02647.hp1 HG02895.hp2 HG02965.hp2 HG03486.hp1 NA18941.hp1 NA18951.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0010 a0001c0001 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0007t0004 a0001c0010t0006 a0001c0001t0001 a0001c0007t0004 a0001c0010t0006	a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0142 others(5): Show a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0142 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0210 a0001c0007t0004g0001 a0001c0010t0006g0009	8	228	0.0351	-14	c.211 others(33): Show c.2113-2174_2113-2161delTTTTTTTTTTTTTT	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	18/49			chr1	TogoVar
DOCK7_chr1_62449726_62693386	62689175	CATACATA others(7): Show CATACATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02015.hp2 HG02273.hp1 others(9): Show HG01358.hp2 HG02015.hp2 HG02273.hp1 HG02615.hp1 HG02809.hp1 HG03486.hp1 NA18939.hp2 NA19009.hp1 NA19009.hp2 NA19060.hp1 NA19080.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0123 a0001c0001t0001g0157 a0001c0001t0001g0168 others(9): Show a0001c0001t0001g0123 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0005g0206 a0001c0002t0002g0032 a0001c0002t0002g0045 a0001c0002t0002g0048 a0002c0003t0001g0087 a0002c0003t0003g0006	12	228	0.0526	-14	c.-92 others(23): Show c.-925_-912delATATATATATGTAT	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding		790		chr1	TogoVar
DOCK7_chr1_62449726_62693386	62690846	TACACACA others(7): Show TACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03453.hp2 HG02970.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0094 a0001c0004t0001g0095	2	228	0.0088	-14	c.-25 others(25): Show c.-2596_-2583delGTGTGTGTGTGTGT	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding		2461		chr1	TogoVar
DOCK8_chr9_209865_470255	307338	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0095 a0002c0095	a0002c0095t0001 a0002c0095t0001	a0002c0095t0001g0002 a0002c0095t0001g0002	1	256	0.0039	-14	c.528 others(31): Show c.528+2659_528+2672delTTTTTTTTTTTTTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	328941	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0107 a0002c0107	a0002c0107t0001 a0002c0107t0001	a0002c0107t0001g0073 a0002c0107t0001g0073	1	256	0.0039	-14	c.104 others(31): Show c.1044+783_1044+796delTTTTTTTTTTTTTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	9/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	371170	GTTGTTTT others(7): Show GTTGTTTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0004 a0004	a0004c0073 a0004c0073	a0004c0073t0001 a0004c0073t0001	a0004c0073t0001g0068 a0004c0073t0001g0068	1	256	0.0039	-14	c.186 others(31): Show c.1869-235_1869-222delTGTTTTTTGTTTTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	16/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	408861	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00621.hp2 others(29): Show HG00558.hp2 HG00621.hp1 HG00621.hp2 HG01109.hp1 HG01346.hp1 HG01433.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp2 HG02071.hp2 HG02698.hp2 HG03486.hp1 HG03710.hp2 HG04199.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18961.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18994.hp1 NA18997.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp1 NA19060.hp2 NA19062.hp2 NA19070.hp2 NA19079.hp2 NA19091.hp2 NA20129.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0017 a0054	a0001c0002 a0001c0056 a0001c0062 others(14): Show a0001c0002 a0001c0056 a0001c0062 a0002c0005 a0002c0006 a0002c0007 a0002c0113 a0002c0115 a0003c0004 a0004c0042 a0005c0158 a0006c0028 a0007c0108 a0008c0120 a0009c0015 a0017c0023 a0054c0137	a0001c0002t0001 a0001c0056t0005 a0001c0062t0001 others(14): Show a0001c0002t0001 a0001c0056t0005 a0001c0062t0001 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0113t0001 a0002c0115t0001 a0003c0004t0001 a0004c0042t0002 a0005c0158t0001 a0006c0028t0001 a0007c0108t0012 a0008c0120t0002 a0009c0015t0007 a0017c0023t0005 a0054c0137t0001	a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0049 others(29): Show a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0049 a0001c0002t0001g0081 a0001c0002t0001g0102 a0001c0002t0001g0115 a0001c0002t0001g0195 a0001c0056t0005g0086 a0001c0062t0001g0164 a0002c0005t0001g0192 a0002c0006t0001g0222 a0002c0006t0001g0223 a0002c0006t0001g0226 a0002c0006t0001g0237 a0002c0006t0001g0238 a0002c0007t0001g0058 a0002c0113t0001g0235 a0002c0115t0001g0037 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0156 a0003c0004t0001g0161 a0003c0004t0001g0162 a0004c0042t0002g0197 a0005c0158t0001g0140 a0006c0028t0001g0211 a0007c0108t0012g0229 a0008c0120t0002g0225 a0009c0015t0007g0062 a0017c0023t0005g0207 a0017c0023t0005g0208 a0054c0137t0001g0139	32	256	0.1250	-14	c.353 others(33): Show c.3530+1805_3530+1818delACACACACACACAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	28/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	408874	ACACACAC others(7): Show ACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18906.hp1 HG03041.hp2 NA18906.hp1	a0002 a0010 a0002 a0010	a0002c0095 a0010c0092 a0002c0095 a0010c0092	a0002c0095t0001 a0010c0092t0011 a0002c0095t0001 a0010c0092t0011	a0002c0095t0001g0002 a0010c0092t0011g0126 a0002c0095t0001g0002 a0010c0092t0011g0126	2	256	0.0078	-14	c.353 others(33): Show c.3530+1813_3530+1826delACACACGCACACAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	28/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	451973	ATATATTT others(7): Show ATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG01243.hp2 HG02109.hp1	a0001 a0002 a0001 a0002	a0001c0049 a0002c0096 a0001c0049 a0002c0096	a0001c0049t0013 a0002c0096t0001 a0001c0049t0013 a0002c0096t0001	a0001c0049t0013g0219 a0002c0096t0001g0010 a0001c0049t0013g0219 a0002c0096t0001g0010	2	256	0.0078	-14	c.596 others(29): Show c.5962-36_5962-23delATATTTTTTTTTTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	451977	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp2 HG02965.hp2 HG02257.hp1 HG02818.hp2 HG02965.hp2	a0044 a0046 a0053 a0044 a0046 a0053	a0044c0037 a0046c0045 a0053c0139 a0044c0037 a0046c0045 a0053c0139	a0044c0037t0003 a0046c0045t0003 a0053c0139t0003 a0044c0037t0003 a0046c0045t0003 a0053c0139t0003	a0044c0037t0003g0236 a0046c0045t0003g0004 a0053c0139t0003g0177 a0044c0037t0003g0236 a0046c0045t0003g0004 a0053c0139t0003g0177	3	256	0.0117	-14	c.596 others(28): Show c.5962-22_5962-9delTTTTTTTTTTTTTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	456966	AAAGGGTT others(7): Show AAAGGGTTCTGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp1 others(76): Show HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG01109.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02273.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03490.hp2 HG03654.hp2 HG03688.hp2 HG03942.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18961.hp1 NA18964.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18997.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19091.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0019 a0023 a0029 a0032 a0036 a0039 a0041 a0043 a0045 a0047 a0049 a0054	a0001c0002 a0001c0003 a0001c0049 others(40): Show a0001c0002 a0001c0003 a0001c0049 a0001c0059 a0001c0062 a0002c0005 a0002c0006 a0002c0007 a0002c0008 a0002c0021 a0002c0075 a0002c0096 a0002c0107 a0002c0115 a0003c0001 a0003c0004 a0005c0013 a0005c0158 a0006c0024 a0006c0028 a0007c0009 a0008c0022 a0008c0118 a0009c0035 a0010c0091 a0011c0156 a0012c0164 a0013c0080 a0013c0094 a0014c0058 a0014c0065 a0019c0047 a0023c0143 a0029c0082 a0032c0089 a0036c0123 a0039c0052 a0041c0053 a0043c0057 a0045c0038 a0047c0146 a0049c0153 a0054c0137	a0001c0002t0001 a0001c0003t0001 a0001c0049t0013 others(40): Show a0001c0002t0001 a0001c0003t0001 a0001c0049t0013 a0001c0059t0001 a0001c0062t0001 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0008t0001 a0002c0021t0001 a0002c0075t0003 a0002c0096t0001 a0002c0107t0001 a0002c0115t0001 a0003c0001t0001 a0003c0004t0001 a0005c0013t0001 a0005c0158t0001 a0006c0024t0001 a0006c0028t0001 a0007c0009t0001 a0008c0022t0001 a0008c0118t0001 a0009c0035t0015 a0010c0091t0001 a0011c0156t0001 a0012c0164t0001 a0013c0080t0001 a0013c0094t0001 a0014c0058t0001 a0014c0065t0001 a0019c0047t0001 a0023c0143t0001 a0029c0082t0001 a0032c0089t0001 a0036c0123t0001 a0039c0052t0001 a0041c0053t0001 a0043c0057t0001 a0045c0038t0001 a0047c0146t0001 a0049c0153t0001 a0054c0137t0001	a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 others(76): Show a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0081 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0102 a0001c0002t0001g0115 a0001c0002t0001g0195 a0001c0002t0001g0253 a0001c0003t0001g0117 a0001c0049t0013g0219 a0001c0059t0001g0100 a0001c0062t0001g0164 a0002c0005t0001g0180 a0002c0005t0001g0206 a0002c0006t0001g0116 a0002c0006t0001g0222 a0002c0006t0001g0223 a0002c0006t0001g0226 a0002c0006t0001g0237 a0002c0006t0001g0238 a0002c0007t0001g0058 a0002c0007t0001g0105 a0002c0007t0001g0194 a0002c0007t0001g0251 a0002c0007t0001g0252 a0002c0008t0001g0111 a0002c0008t0001g0112 a0002c0008t0001g0113 a0002c0008t0001g0114 a0002c0021t0001g0242 a0002c0075t0003g0085 a0002c0096t0001g0010 a0002c0107t0001g0073 a0002c0115t0001g0037 a0003c0001t0001g0131 a0003c0001t0001g0132 a0003c0001t0001g0133 a0003c0001t0001g0145 a0003c0004t0001g0134 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0005c0013t0001g0189 a0005c0158t0001g0140 a0006c0024t0001g0210 a0006c0028t0001g0211 a0007c0009t0001g0078 a0007c0009t0001g0249 a0007c0009t0001g0254 a0007c0009t0001g0255 a0008c0022t0001g0227 a0008c0118t0001g0036 a0009c0035t0015g0218 a0010c0091t0001g0076 a0011c0156t0001g0052 a0012c0164t0001g0215 a0013c0080t0001g0061 a0013c0094t0001g0095 a0014c0058t0001g0021 a0014c0065t0001g0165 a0019c0047t0001g0022 a0023c0143t0001g0166 a0029c0082t0001g0228 a0032c0089t0001g0120 a0036c0123t0001g0240 a0039c0052t0001g0079 a0041c0053t0001g0101 a0043c0057t0001g0182 a0045c0038t0001g0026 a0047c0146t0001g0013 a0049c0153t0001g0171 a0054c0137t0001g0139	79	256	0.3086	-14	c.606 others(33): Show c.6068+4851_6068+4864delAGGGTTCTGCAGCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	466809	TTTGTGGA others(7): Show TTTGTGGACTCAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02080.hp2 HG00438.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0106 a0001c0003t0001g0098 a0001c0003t0001g0106	2	256	0.0078	-14	c.25 others(25): Show c.2591_*2604delTTGTGGACTCAGAA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding		1555		chr9	TogoVar
DOCK8_chr9_209865_470255	468079	AATGGCGC others(7): Show AATGGCGCGAACCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	256	0.0039	-14	c.38 others(25): Show c.3861_*3874delATGGCGCGAACCCG	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding		2825		chr9	TogoVar
DOCK9_chr13_98788429_98983064	98887143	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0214	1	348	0.0029	-14	c.204 others(31): Show c.2044-533_2044-520delAAAAAAAAAAAAAA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	18/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98903608	AAAAAAAA others(7): Show AAAAAAAAAAAAGAC	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	348	0.0058	-14	c.103 others(31): Show c.1036-510_1036-497delGTCTTTTTTTTTTT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	10/52			chr13	TogoVar
DOK4_chr16_57466922_57491493	57469427	AGAAGTGC others(7): Show AGAAGTGCTAATTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	410	0.0024	-14	c.39 others(25): Show c.3936_*3949delAGAATTAGCACTTC	DOK4	ENSG00000125170.11	transcript	ENST00000340099.10	protein_coding		2494		chr16	TogoVar
DOK5_chr20_54470593_54656169	54481117	TATCATGT others(7): Show TATCATGTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03471.hp1 HG00642.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0112 a0001c0001t0002g0113	2	130	0.0154	-14	c.66+ others(29): Show c.66+5109_66+5122delATGTATCTATCATC	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK6_chr18_69395888_69854087	69429620	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp1 HG01106.hp1 others(7): Show HG00558.hp1 HG01069.hp1 HG01106.hp1 HG01261.hp1 HG02559.hp2 HG02683.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(6): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0042 a0001c0001t0078 a0001c0001t0080 a0001c0002t0001 a0001c0002t0003	a0001c0001t0005g0133 a0001c0001t0006g0166 a0001c0001t0008g0151 others(7): Show a0001c0001t0005g0133 a0001c0001t0006g0166 a0001c0001t0008g0151 a0001c0001t0014g0148 a0001c0001t0042g0169 a0001c0001t0078g0130 a0001c0001t0080g0167 a0001c0002t0001g0072 a0001c0002t0001g0134 a0001c0002t0003g0155	10	170	0.0588	-14	c.66+ others(31): Show c.66+28341_66+28354delATATATATATATAT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69487177	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02735.hp2 NA19079.hp2 HG00735.hp1 HG02735.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0007 a0001c0002t0051 a0001c0003t0070 a0001c0002t0007 a0001c0002t0051 a0001c0003t0070	a0001c0002t0007g0124 a0001c0002t0051g0080 a0001c0003t0070g0120 a0001c0002t0007g0124 a0001c0002t0051g0080 a0001c0003t0070g0120	3	170	0.0177	-14	c.67- others(31): Show c.67-77278_67-77265delGTGTGTGTGTGTGT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69565509	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02717.hp2 HG02109.hp2 HG02615.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0058 a0001c0001t0074 a0001c0003t0057 a0001c0001t0058 a0001c0001t0074 a0001c0003t0057	a0001c0001t0058g0025 a0001c0001t0074g0051 a0001c0003t0057g0081 a0001c0001t0058g0025 a0001c0001t0074g0051 a0001c0003t0057g0081	3	170	0.0177	-14	c.174 others(29): Show c.174+917_174+930delGTGTGTGTGTGTAT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69565511	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02083.hp1 HG03139.hp2 HG01109.hp1 HG02083.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0075 a0001c0003t0065 a0001c0003t0097 a0001c0001t0075 a0001c0003t0065 a0001c0003t0097	a0001c0001t0075g0011 a0001c0003t0065g0012 a0001c0003t0097g0089 a0001c0001t0075g0011 a0001c0003t0065g0012 a0001c0003t0097g0089	3	170	0.0177	-14	c.174 others(29): Show c.174+919_174+932delGTGTGTGTGTATAT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69565513	GTGTGTGT others(7): Show GTGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp1 HG01358.hp2 others(14): Show HG01175.hp2 HG01192.hp1 HG01358.hp2 HG01517.hp2 HG02027.hp2 HG02083.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG03130.hp1 HG03654.hp1 HG03654.hp2 HG04115.hp1 NA19079.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0020 a0001c0001t0035 a0001c0002t0008 a0001c0002t0037 a0001c0002t0039 a0001c0002t0051 a0001c0002t0103 a0001c0003t0003 a0001c0003t0005 a0001c0003t0010	a0001c0001t0001g0071 a0001c0001t0001g0146 a0001c0001t0005g0006 others(14): Show a0001c0001t0001g0071 a0001c0001t0001g0146 a0001c0001t0005g0006 a0001c0001t0005g0159 a0001c0001t0011g0095 a0001c0001t0020g0032 a0001c0001t0035g0136 a0001c0002t0008g0070 a0001c0002t0008g0114 a0001c0002t0037g0007 a0001c0002t0039g0132 a0001c0002t0051g0080 a0001c0002t0103g0161 a0001c0003t0003g0108 a0001c0003t0003g0165 a0001c0003t0005g0112 a0001c0003t0010g0066	17	170	0.1000	-14	c.174 others(29): Show c.174+921_174+934delGTGTGTGTATATAT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69565515	GTGTGTGT others(7): Show GTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG02723.hp2 others(1): Show HG02630.hp2 HG02647.hp2 HG02723.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0018 a0001c0003t0031 a0001c0003t0059 others(1): Show a0001c0001t0018 a0001c0003t0031 a0001c0003t0059 a0001c0003t0091	a0001c0001t0018g0088 a0001c0003t0031g0039 a0001c0003t0059g0022 others(1): Show a0001c0001t0018g0088 a0001c0003t0031g0039 a0001c0003t0059g0022 a0001c0003t0091g0020	4	170	0.0235	-14	c.174 others(29): Show c.174+923_174+936delGTGTGTATATATAT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69712313	AAAAAAAA others(7): Show AAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01069.hp1 others(5): Show HG00423.hp2 HG00558.hp1 HG01069.hp1 HG01106.hp1 HG01109.hp2 HG01517.hp1 HG03834.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0040 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0040 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0009 a0001c0002t0047	a0001c0001t0040g0153 a0001c0002t0001g0072 a0001c0002t0001g0126 others(5): Show a0001c0001t0040g0153 a0001c0002t0001g0072 a0001c0002t0001g0126 a0001c0002t0001g0134 a0001c0002t0003g0155 a0001c0002t0006g0141 a0001c0002t0009g0145 a0001c0002t0047g0105	8	170	0.0471	-14	c.599 others(33): Show c.599+13721_599+13734delAAAAAAAAAAAAAT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	5/7			chr18	TogoVar
DOK6_chr18_69395888_69854087	69801085	TTTTGTTT others(7): Show TTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01358.hp2 NA20129.hp2 HG01255.hp1 HG01358.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0101 a0001c0003t0003g0138 a0001c0003t0003g0165 a0001c0003t0003g0101 a0001c0003t0003g0138 a0001c0003t0003g0165	3	170	0.0177	-14	c.857 others(33): Show c.857-40155_857-40142delGTTTTGTTTTGTTT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69809554	TCACACAC others(7): Show TCACACACACAGACA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	170	0.0059	-14	c.857 others(33): Show c.857-31679_857-31666delGACACACACACACA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK7_chr4_3458306_3499482	3468768	GCATGTAT others(7): Show GCATGTATGTGTGCC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19240.hp1 HG06807.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0093 a0003c0003t0004g0178 a0003c0003t0004g0093 a0003c0003t0004g0178	2	404	0.0050	-14	c.101 others(31): Show c.101-4637_101-4624delCATGTATGTGTGCC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	2/6			chr4	TogoVar
DOLPP1_chr9_129076111_129095438	129079758	AATTAGCC others(7): Show AATTAGCCGGGCGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	414	0.0024	-14	c.-13 others(25): Show c.-1373_-1360delATTAGCCGGGCGTG	DOLPP1	ENSG00000167130.18	transcript	ENST00000372546.9	protein_coding		1352		chr9	TogoVar
DONSON_chr21_33572551_33593684	33577604	TACACACA others(7): Show TACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp2 HG03471.hp2 HG04199.hp2 others(5): Show HG01071.hp2 HG03471.hp2 HG04199.hp2 NA18948.hp2 NA18992.hp1 NA19063.hp2 NA19065.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0046 a0001c0001t0047 a0001c0001t0063 others(1): Show a0001c0001t0046 a0001c0001t0047 a0001c0001t0063 a0001c0002t0063	a0001c0001t0046g0148 a0001c0001t0046g0319 a0001c0001t0046g0335 others(5): Show a0001c0001t0046g0148 a0001c0001t0046g0319 a0001c0001t0046g0335 a0001c0001t0047g0173 a0001c0001t0047g0186 a0001c0001t0047g0191 a0001c0001t0063g0076 a0001c0002t0063g0028	8	426	0.0188	-14	c.68 others(23): Show c.689_*702delGTGTGTGTGTGTGT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	689		chr21	TogoVar
DONSON_chr21_33572551_33593684	33580463	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00621.hp1 others(47): Show HG00323.hp1 HG00544.hp2 HG00621.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01884.hp1 HG01943.hp1 HG01975.hp2 HG02027.hp1 HG02083.hp1 HG02273.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03704.hp1 HG03834.hp1 NA18612.hp1 NA18941.hp1 NA18947.hp2 NA18948.hp1 NA18959.hp1 NA18963.hp2 NA18972.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18998.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19060.hp2 NA19065.hp2 NA19068.hp1 NA19079.hp2 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 others(26): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0063 a0001c0001t0064 a0001c0001t0075 a0001c0001t0102 a0001c0001t0107 a0001c0001t0115 a0001c0001t0116 a0001c0001t0134 a0001c0001t0136 a0001c0001t0142 a0001c0002t0036 a0001c0002t0093 a0001c0002t0100 a0004c0005t0040	a0001c0001t0003g0045 a0001c0001t0006g0059 a0001c0001t0012g0001 others(34): Show a0001c0001t0003g0045 a0001c0001t0006g0059 a0001c0001t0012g0001 a0001c0001t0012g0082 a0001c0001t0014g0008 a0001c0001t0015g0010 a0001c0001t0021g0034 a0001c0001t0021g0056 a0001c0001t0027g0003 a0001c0001t0027g0081 a0001c0001t0028g0011 a0001c0001t0028g0079 a0001c0001t0032g0050 a0001c0001t0033g0049 a0001c0001t0034g0002 a0001c0001t0039g0009 a0001c0001t0039g0032 a0001c0001t0040g0051 a0001c0001t0040g0085 a0001c0001t0042g0053 a0001c0001t0044g0054 a0001c0001t0063g0076 a0001c0001t0064g0077 a0001c0001t0075g0039 a0001c0001t0075g0062 a0001c0001t0102g0052 a0001c0001t0107g0055 a0001c0001t0115g0057 a0001c0001t0116g0058 a0001c0001t0134g0060 a0001c0001t0136g0061 a0001c0001t0142g0384 a0001c0002t0036g0007 a0001c0002t0036g0030 a0001c0002t0093g0029 a0001c0002t0100g0031 a0004c0005t0040g0063	50	426	0.1174	-14	c.135 others(31): Show c.1350+825_1350+838delTTTTTTTTTTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	8/9			chr21	TogoVar
DOP1A_chr6_83062671_83173471	83063471	AATAGTCA others(7): Show AATAGTCATATATTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	298	0.0034	-14	c.-44 others(25): Show c.-4454_-4441delATAGTCATATATTC	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding		4199		chr6	TogoVar
DOP1B_chr21_36151824_36299274	36289424	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG01884.hp1 others(23): Show HG01099.hp1 HG01123.hp1 HG01884.hp1 HG01952.hp2 HG02055.hp1 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18959.hp2 NA19030.hp2 NA19240.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0025 a0001c0042 a0002c0004 a0014c0024	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0025t0002 a0001c0042t0001 a0002c0004t0001 a0002c0004t0002 a0014c0024t0001	a0001c0001t0001g0167 a0001c0001t0001g0239 a0001c0002t0001g0172 others(23): Show a0001c0001t0001g0167 a0001c0001t0001g0239 a0001c0002t0001g0172 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0218 a0001c0002t0001g0226 a0001c0002t0001g0269 a0001c0002t0001g0280 a0001c0002t0002g0064 a0001c0002t0002g0069 a0001c0005t0001g0049 a0001c0005t0001g0227 a0001c0005t0001g0260 a0001c0005t0001g0265 a0001c0005t0001g0266 a0001c0005t0001g0271 a0001c0005t0001g0272 a0001c0005t0001g0273 a0001c0005t0001g0274 a0001c0025t0002g0057 a0001c0042t0001g0286 a0002c0004t0001g0070 a0002c0004t0001g0150 a0002c0004t0002g0007 a0014c0024t0001g0210	26	292	0.0890	-14	c.651 others(31): Show c.6515+256_6515+269delTGTGTGTGTGTGTG	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	35/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOT1L_chr19_2158933_2237578	2174982	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03486.hp2 HG06807.hp1 HG02965.hp2 HG03486.hp2 HG06807.hp1	a0005 a0005	a0005c0013 a0005c0027 a0005c0013 a0005c0027	a0005c0013t0011 a0005c0027t0011 a0005c0013t0011 a0005c0027t0011	a0005c0013t0011g0095 a0005c0013t0011g0096 a0005c0027t0011g0097 a0005c0013t0011g0095 a0005c0013t0011g0096 a0005c0027t0011g0097	3	378	0.0079	-14	c.82- others(29): Show c.82-5729_82-5716delGTGTGTGTGTGTAT	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPCD_chr10_101583321_101614662	101598611	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG02071.hp1 others(19): Show HG00438.hp1 HG00558.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02293.hp1 NA18906.hp2 NA18951.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA19007.hp1 NA19012.hp2 NA19060.hp1 NA19070.hp2 NA19072.hp1 NA19081.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0064 a0001c0001t0001g0065 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0120 a0001c0001t0001g0124	22	342	0.0643	-14	c.146 others(31): Show c.146-2110_146-2097delTTTTTTTTTTTTTT	DPCD	ENSG00000166171.13	transcript	ENST00000370151.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPEP1_chr16_89608642_89643433	89613460	CCTCTCTC others(7): Show CCTCTCTCCCTCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(120): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA19000.hp2 NA19009.hp1 NA19011.hp1 NA19054.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0006 a0001c0011 others(5): Show a0001c0001 a0001c0006 a0001c0011 a0002c0002 a0003c0003 a0003c0004 a0005c0009 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0011t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0003t0002 a0003c0004t0002 a0005c0009t0001 a0006c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(120): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0002g0090 a0001c0006t0001g0006 a0001c0011t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0076 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0131 a0002c0002t0001g0148 a0002c0002t0003g0047 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0061 a0002c0002t0003g0075 a0002c0002t0004g0149 a0003c0003t0002g0083 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0004t0002g0049 a0003c0004t0002g0050 a0005c0009t0001g0085 a0006c0008t0001g0101	123	250	0.4920	-14	c.-36 others(23): Show c.-365_-352delCTCTCTCCCTCCTG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding		181		chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619786	CCCCTCCC others(7): Show CCCCTCCCTGCAGCG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG02622.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0034 a0001c0001t0001g0035	2	250	0.0080	-14	c.-10 others(33): Show c.-107+6072_-107+6085delCCCTGCAGCGCCCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPF1_chr19_38206006_38229222	38227007	TTCCTTCC others(7): Show TTCCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00609.hp1 others(39): Show HG00544.hp2 HG00558.hp2 HG00609.hp1 HG01168.hp2 HG01169.hp1 HG01884.hp1 HG01891.hp1 HG02027.hp1 HG02071.hp2 HG02109.hp2 HG02135.hp1 HG02165.hp1 HG02258.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03710.hp2 NA18747.hp1 NA18945.hp2 NA18950.hp2 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA18992.hp1 NA19030.hp1 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19070.hp1 NA19074.hp2 NA19087.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(31): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0249 a0001c0002t0001g0010 a0001c0003t0001g0030 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0257	42	434	0.0968	-14	c.-28 others(25): Show c.-2879_-2866delGAAGGAAGGAAGGA	DPF1	ENSG00000011332.22	transcript	ENST00000355526.10	protein_coding		2786		chr19	TogoVar
DPF2_chr11_65328852_65359262	65337472	AAAATATA others(7): Show AAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	354	0.0028	-14	c.33- others(29): Show c.33-2911_33-2898delAATATATATATATA	DPF2	ENSG00000133884.11	transcript	ENST00000528416.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
DPF2_chr11_65328852_65359262	65337494	TATATATA others(7): Show TATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18977.hp2 NA18987.hp2 others(2): Show HG03688.hp1 NA18977.hp2 NA18987.hp2 NA19004.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0244 a0001c0001t0001g0252 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0310 a0001c0001t0001g0314	5	354	0.0141	-14	c.33- others(29): Show c.33-2889_33-2876delTATATATATAGAGA	DPF2	ENSG00000133884.11	transcript	ENST00000528416.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar

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