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
DOCK7_chr1_62449726_62693386	62483209	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	228	0.0044	19	c.550 others(38): Show c.5508+4188_5508+4189insCAAAAAAAAAAAAAAAAAA	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	43/49			chr1	TogoVar
DOCK7_chr1_62449726_62693386	62553354	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0097 a0001c0004t0001g0097	1	228	0.0044	19	c.259 others(36): Show c.2597-454_2597-453insATATATATATATATATATA	DOCK7	ENSG00000116641.18	transcript	ENST00000635253.2	protein_coding	21/49			chr1	TogoVar
DOCK9_chr13_98788429_98983064	98887144	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20129.hp2 NA20300.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0006t0001 a0001c0003t0002 a0001c0006t0001	a0001c0003t0002g0217 a0001c0003t0002g0270 a0001c0006t0001g0280 a0001c0003t0002g0217 a0001c0003t0002g0270 a0001c0006t0001g0280	3	348	0.0086	19	c.204 others(36): Show c.2044-521_2044-520insTATATATATATATATATAT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	18/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98951903	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02602.hp2 HG02300.hp2 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0008 a0001c0003 a0002c0008	a0001c0003t0007 a0002c0008t0005 a0001c0003t0007 a0002c0008t0005	a0001c0003t0007g0009 a0002c0008t0005g0005 a0001c0003t0007g0009 a0002c0008t0005g0005	2	348	0.0058	19	c.243 others(36): Show c.243+3531_243+3532insAAAAAAAAAAAAAAAAAAA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	2/52			chr13	TogoVar
DOK3_chr5_177496904_177514826	177497008	G G	GGGGAGGG others(12): Show GGGGAGGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	19	c.69 others(30): Show c.6974_*6975insTCCCCTCCCCTCCCCTCCC	DOK3	ENSG00000146094.16	transcript	ENST00000510898.7	protein_coding		4895		chr5	TogoVar
DOK3_chr5_177496904_177514826	177497044	G G	GGGGAGGG others(12): Show GGGGAGGGGAGGGGGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	19	c.69 others(30): Show c.6938_*6939insTCCTCCCCCCTCCCCTCCC	DOK3	ENSG00000146094.16	transcript	ENST00000510898.7	protein_coding		4859		chr5	TogoVar
DOK4_chr16_57466922_57491493	57471588	A A	AGGATGTG others(12): Show AGGATGTGAGGGAAAATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	410	0.0024	19	c.17 others(30): Show c.1788_*1789insCCCATTTTCCCTCACATCC	DOK4	ENSG00000125170.11	transcript	ENST00000340099.10	protein_coding		333		chr16	TogoVar
DOK5_chr20_54470593_54656169	54645925	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0124 a0001c0001t0020g0124	1	130	0.0077	19	c.856 others(36): Show c.856+2360_856+2378dupAAAAAAAAAAAAAAAAAAA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54646248	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02818.hp2 others(1): Show HG02109.hp1 HG02451.hp2 HG02818.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0014 a0001c0002t0004 others(1): Show a0001c0001t0013 a0001c0001t0014 a0001c0002t0004 a0001c0002t0015	a0001c0001t0013g0075 a0001c0001t0014g0089 a0001c0002t0004g0006 others(1): Show a0001c0001t0013g0075 a0001c0001t0014g0089 a0001c0002t0004g0006 a0001c0002t0015g0109	4	130	0.0308	19	c.856 others(36): Show c.856+2676_856+2694dupTTTTTTTTTTTTTTTTTTT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK7_chr4_3458306_3499482	3490152	C C	CCCCCTTA others(12): Show CCCCCTTATTCATTCCTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02135.hp1 others(3): Show HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02717.hp2 HG03225.hp2 NA18954.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0010c0013	a0001c0001t0020 a0002c0002t0001 a0002c0002t0028 others(3): Show a0001c0001t0020 a0002c0002t0001 a0002c0002t0028 a0003c0003t0004 a0010c0013t0024 a0010c0013t0025	a0001c0001t0020g0360 a0002c0002t0001g0148 a0002c0002t0028g0361 others(3): Show a0001c0001t0020g0360 a0002c0002t0001g0148 a0002c0002t0028g0361 a0003c0003t0004g0359 a0010c0013t0024g0325 a0010c0013t0025g0264	6	404	0.0149	19	c.772 others(34): Show c.772+357_772+358insCCCTTATTCATTCCTTTTC	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(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02647.hp2 HG03540.hp1 others(2): Show HG01106.hp1 HG02647.hp2 HG03540.hp1 HG03540.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0028 a0001c0001t0071 others(2): Show a0001c0001t0011 a0001c0001t0028 a0001c0001t0071 a0001c0001t0111 a0001c0001t0130	a0001c0001t0011g0216 a0001c0001t0028g0374 a0001c0001t0071g0217 others(2): Show a0001c0001t0011g0216 a0001c0001t0028g0374 a0001c0001t0071g0217 a0001c0001t0111g0218 a0001c0001t0130g0140	5	426	0.0117	19	c.964 others(34): Show c.964+269_964+287dupTTTTTTTTTTTTTTTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	5/9			chr21	TogoVar
DOP1B_chr21_36151824_36299274	36201345	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG01109.hp1 others(13): Show HG00423.hp1 HG00621.hp2 HG01109.hp1 HG01123.hp1 HG01255.hp2 HG01517.hp2 HG01993.hp1 HG02074.hp2 HG02683.hp2 HG03654.hp2 HG03942.hp1 NA18939.hp2 NA19066.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0008 a0003c0012 a0004c0007 a0012c0020	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0002c0004t0001 a0002c0004t0002 a0003c0008t0001 a0003c0008t0002 a0003c0012t0001 a0004c0007t0001 a0012c0020t0001	a0001c0001t0001g0111 a0001c0002t0001g0221 a0001c0003t0001g0211 others(13): Show a0001c0001t0001g0111 a0001c0002t0001g0221 a0001c0003t0001g0211 a0001c0003t0003g0114 a0001c0003t0003g0119 a0001c0003t0004g0097 a0002c0004t0001g0117 a0002c0004t0002g0007 a0003c0008t0001g0109 a0003c0008t0001g0116 a0003c0008t0001g0118 a0003c0008t0002g0035 a0003c0012t0001g0110 a0004c0007t0001g0090 a0004c0007t0001g0095 a0012c0020t0001g0186	16	292	0.0548	19	c.491 others(34): Show c.491+846_491+864dupTTTTTTTTTTTTTTTTTTT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOP1B_chr21_36151824_36299274	36236174	G G	GCCCTCCT others(12): Show GCCCTCCTTCTGGGTCTCAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	292	0.0034	19	c.262 others(38): Show c.2623-1085_2623-1067dupCTCCTTCTGGGTCTCACCC	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	15/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DPF3_chr14_72604034_72899101	72640046	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	234	0.0043	19	c.872 others(38): Show c.872-10329_872-10311dupTTTTTTTTTTTTTTTTTTT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	8/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72756906	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0227 a0001c0001t0010g0227	1	234	0.0043	19	c.194 others(36): Show c.194-3536_194-3535insCTTTCTTTCTTTCTTTCTT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	2/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72828537	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG06807.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0003t0069 a0001c0001t0013 a0001c0003t0069	a0001c0001t0013g0005 a0001c0003t0069g0097 a0001c0001t0013g0005 a0001c0003t0069g0097	2	234	0.0086	19	c.33- others(36): Show c.33-56645_33-56644insTTTTTTTTTTTTTTTTTTT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72838905	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0174 a0001c0001t0040g0174	1	234	0.0043	19	c.32+ others(36): Show c.32+55151_32+55152insAAATATATATATATATATA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72838906	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01167.hp1 others(7): Show HG00639.hp1 HG00639.hp2 HG01167.hp1 HG01169.hp2 HG02148.hp2 HG03540.hp1 HG03834.hp2 NA18942.hp1 NA18961.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 others(6): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0032 a0001c0001t0066 a0001c0001t0077 a0001c0002t0009	a0001c0001t0005g0185 a0001c0001t0007g0067 a0001c0001t0014g0166 others(7): Show a0001c0001t0005g0185 a0001c0001t0007g0067 a0001c0001t0014g0166 a0001c0001t0015g0178 a0001c0001t0017g0145 a0001c0001t0032g0089 a0001c0001t0066g0105 a0001c0001t0077g0210 a0001c0002t0009g0076 a0001c0002t0009g0077	10	234	0.0427	19	c.32+ others(36): Show c.32+55150_32+55151insTATATATATATATATATAT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPH6_chr15_35365880_35551165	35436499	C C	CAAACAAA others(12): Show CAAACAAACAAACAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	228	0.0044	19	c.505 others(38): Show c.505+14185_505+14186insTTTTTTTGTTTGTTTGTTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	5/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35467762	A A	ATTTTTTT others(12): Show ATTTTTTTACACTTAATCTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	228	0.0044	19	c.313 others(38): Show c.313-12943_313-12942insAAGATTAAGTGTAAAAAAA	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	228	0.0044	19	c.312 others(38): Show c.312+41706_312+41707insATATATATATATATATATA	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPP10_chr2_114437641_115850780	114468397	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0043 a0001c0004t0004g0043	1	56	0.0179	19	c.60+ others(36): Show c.60+25565_60+25583dupAAAAAAAAAAAAAAAAAAA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114961033	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	56	0.0179	19	c.61- others(38): Show c.61-348187_61-348169dupTTTTTTTTTTTTTTTTTTT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114973661	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0054 a0002c0001t0002g0054	1	56	0.0179	19	c.61- others(38): Show c.61-335574_61-335556dupAAAAAAAAAAAAAAAAAAA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115286526	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	56	0.0179	19	c.61- others(36): Show c.61-22713_61-22712insTATATATATATATATATAT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25			chr2	TogoVar
DPP10_chr2_114437641_115850780	115334230	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19240.hp2 HG02818.hp1 NA19240.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0003 a0004c0005t0012 a0003c0003t0003 a0004c0005t0012	a0003c0003t0003g0049 a0004c0005t0012g0031 a0003c0003t0003g0049 a0004c0005t0012g0031	2	56	0.0357	19	c.176 others(36): Show c.176-9571_176-9570insTTTTTTTTTTTTTTTTTTT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154575442	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGGTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA20905.hp2 HG00673.hp1 NA20905.hp2	a0001 a0001	a0001c0007 a0001c0016 a0001c0007 a0001c0016	a0001c0007t0019 a0001c0016t0013 a0001c0007t0019 a0001c0016t0013	a0001c0007t0019g0037 a0001c0016t0013g0014 a0001c0007t0019g0037 a0001c0016t0013g0014	2	38	0.0526	19	c.627 others(36): Show c.627+8533_627+8534insGTGTGTGTGGTATGTGTGT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154893451	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0021 a0002c0012t0021	a0002c0012t0021g0035 a0002c0012t0021g0035	1	38	0.0263	19	c.97 others(28): Show c.971_*972insAAAAAAAAAAAAAAAAAAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	26/26	972		chr7	TogoVar
DPP8_chr15_65437467_65522689	65448762	G G	GAAATATA others(12): Show GAAATATACATATATATCTA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG04115.hp1 HG03491.hp2 HG03492.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0151 a0001c0004t0002g0278 a0001c0004t0002g0279 a0001c0004t0002g0151 a0001c0004t0002g0278 a0001c0004t0002g0279	3	336	0.0089	19	c.252 others(38): Show c.2527-1775_2527-1757dupTAGATATATATGTATATTT	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	19/19			chr15	TogoVar
DPP8_chr15_65437467_65522689	65494149	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02630.hp2 HG02896.hp2 others(3): Show HG01167.hp1 HG02630.hp2 HG02896.hp2 HG02965.hp1 HG03225.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0014 a0001c0003t0005 a0001c0003t0014	a0001c0003t0005g0011 a0001c0003t0005g0024 a0001c0003t0005g0025 others(3): Show a0001c0003t0005g0011 a0001c0003t0005g0024 a0001c0003t0005g0025 a0001c0003t0005g0027 a0001c0003t0005g0028 a0001c0003t0014g0012	6	336	0.0179	19	c.715 others(36): Show c.715+3714_715+3715insAAAAAAAAAAAAAAAAAAA	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	5/19			chr15	TogoVar
DPP9_chr19_4670227_4728842	4670478	T T	TGGGGGCG others(12): Show TGGGGGCGGGACTTTGCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 NA19043.hp2 HG03041.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0025 a0001c0001t0005g0026	2	314	0.0064	19	c.60 others(30): Show c.6085_*6086insTCGGCAAAGTCCCGCCCCC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		4748		chr19	TogoVar
DPP9_chr19_4670227_4728842	4672259	A A	ATTCATAT others(12): Show ATTCATATATTCATATTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	314	0.0032	19	c.43 others(30): Show c.4304_*4305insAGTAATATGAATATATGAA	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2967		chr19	TogoVar
DPPA3_chr12_7706433_7722559	7712077	G G	GGCTATTT others(12): Show GGCTATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00733.hp1 others(49): Show HG00280.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01516.hp1 HG01891.hp1 HG01978.hp1 HG02027.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG06807.hp2 NA18612.hp1 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18973.hp1 NA18979.hp1 NA18984.hp1 NA18985.hp2 NA18991.hp1 NA18997.hp2 NA19007.hp2 NA19030.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp2 NA19067.hp1 NA19075.hp1 NA19078.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19089.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0049 others(14): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0002g0048 a0001c0001t0002g0065 a0001c0001t0002g0086 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0027 a0002c0002t0001g0036 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0066	52	466	0.1116	19	c.82+ others(32): Show c.82+425_82+426insGCTATTTTTTTTTTTTTTT	DPPA3	ENSG00000187569.3	transcript	ENST00000345088.3	protein_coding	1/3			chr12	TogoVar
DPY19L1_chr7_34923881_35042485	35017501	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG01109.hp1 others(8): Show HG00408.hp1 HG00642.hp2 HG01109.hp1 HG02040.hp2 HG02630.hp1 HG02738.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp1 NA18981.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0166 a0001c0001t0001g0172 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0002g0160 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0282 a0001c0001t0002g0305 a0001c0001t0002g0312	11	328	0.0335	19	c.411 others(34): Show c.411+362_411+380dupTTTTTTTTTTTTTTTTTTT	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	3/21			chr7	TogoVar
DPY19L1_chr7_34923881_35042485	35027668	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp2 HG01167.hp2 others(45): Show HG00609.hp2 HG01081.hp2 HG01167.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp2 HG02257.hp2 HG02273.hp1 HG03492.hp2 HG03540.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 NA18945.hp1 NA18947.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18979.hp1 NA18981.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp2 NA19006.hp1 NA19011.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19077.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0012 a0001c0001 a0002c0002 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0002c0002t0003 a0002c0002t0013 a0005c0012t0005	a0001c0001t0001g0187 a0001c0001t0002g0002 a0001c0001t0002g0245 others(44): Show a0001c0001t0001g0187 a0001c0001t0002g0002 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0005g0300 a0001c0001t0005g0304 a0001c0001t0006g0307 a0001c0001t0015g0251 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0193 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0201 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0241 a0002c0002t0013g0207 a0005c0012t0005g0320	48	328	0.1463	19	c.299 others(36): Show c.299-9091_299-9073dupTTTTTTTTTTTTTTTTTTT	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	1/21			chr7	TogoVar
DPY19L2_chr12_63553913_63673493	63610841	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	362	0.0028	19	c.121 others(38): Show c.1219-2185_1219-2167dupTTTTTTTTTTTTTTTTTTT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	11/21			chr12	TogoVar
DPY19L3_chr19_32400770_32490890	32445440	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18952.hp1 HG01981.hp2 NA18952.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0014 a0003c0005t0006 a0001c0003t0014 a0003c0005t0006	a0001c0003t0014g0022 a0003c0005t0006g0085 a0001c0003t0014g0022 a0003c0005t0006g0085	2	384	0.0052	19	c.855 others(36): Show c.855+5533_855+5551dupAAAAAAAAAAAAAAAAAAA	DPY19L3	ENSG00000178904.19	transcript	ENST00000392250.7	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPYSL2_chr8_26509031_26663175	26546947	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0010 a0001c0019t0010	a0001c0019t0010g0092 a0001c0019t0010g0092	1	316	0.0032	19	c.354 others(38): Show c.354+32272_354+32273insAAAAAAAAAAAAAAGAAAA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL4_chr10_132181948_132210759	132189594	G G	GTCACCCC others(12): Show GTCACCCCATCTCTTCCCCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01256.hp1 others(1): Show HG01106.hp2 HG01109.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0036 a0001c0002t0008g0190 a0001c0002t0008g0036 a0001c0002t0008g0190	4	418	0.0096	19	c.40- others(34): Show c.40-1145_40-1127dupATCTCTTCCCCATCACCCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132205982	G G	GGCCCCCC others(12): Show GGCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01175.hp2 HG01167.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0008 a0001c0003t0005g0204 a0001c0003t0005g0008 a0001c0003t0005g0204	2	418	0.0048	19	c.10 others(30): Show c.1052_*1053insGCCCCCCCCCCCCCCCCCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		224		chr10	TogoVar
DPYS_chr8_104374431_104472055	104407749	A A	ATTCTTGG others(12): Show ATTCTTGGATCATTAAACTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03041.hp1 others(1): Show HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0009t0001g0057 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0009t0001g0057 a0001c0009t0001g0058	4	380	0.0105	19	c.123 others(40): Show c.1236-14777_1236-14759dupGAGTTTAATGATCCAAGAA	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	7/9			chr8	TogoVar
DRAM1_chr12_101872580_101928612	101895186	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02280.hp2 HG03098.hp1 others(3): Show HG00621.hp2 HG02280.hp2 HG03098.hp1 HG03654.hp2 NA18961.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0096 a0001c0001t0003g0106 a0001c0001t0003g0110 others(3): Show a0001c0001t0001g0096 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0238	6	396	0.0152	19	c.132 others(36): Show c.132-2665_132-2647dupTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAM1_chr12_101872580_101928612	101915670	A A	ATAGCTGG others(12): Show ATAGCTGGGATTACAGGCAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0239 a0001c0001t0043g0239	1	396	0.0025	19	c.579 others(36): Show c.579+1456_579+1474dupACTAGCTGGGATTACAGGC	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAM1_chr12_101872580_101928612	101926197	C C	CCCTATTG others(12): Show CCCTATTGCCCCCACGCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	396	0.0025	19	c.49 others(30): Show c.4937_*4938insCCTATTGCCCCCACGCCAG	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding		2586		chr12	TogoVar
DRD1_chr5_175435036_175449182	175446088	C C	CCTAAAAA others(12): Show CCTAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02723.hp1 HG02486.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0015 a0001c0004t0015 a0001c0001t0015 a0001c0004t0015	a0001c0001t0015g0034 a0001c0004t0015g0020 a0001c0001t0015g0034 a0001c0004t0015g0020	2	490	0.0041	19	c.-28 others(30): Show c.-2874_-2873insTTTTTTTTTTTTTTTTTAG	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		1907		chr5	TogoVar
DRICH1_chr22_23603452_23637321	23614813	A A	ACCCCTGT others(12): Show ACCCCTGTGATCAGGGGCTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp2 HG03139.hp1 others(1): Show HG02622.hp2 HG03041.hp2 HG03139.hp1 NA19030.hp1	a0007 a0011 a0007 a0011	a0007c0005 a0011c0009 a0007c0005 a0011c0009	a0007c0005t0004 a0007c0005t0006 a0011c0009t0004 a0007c0005t0004 a0007c0005t0006 a0011c0009t0004	a0007c0005t0004g0093 a0007c0005t0004g0094 a0007c0005t0006g0092 others(1): Show a0007c0005t0004g0093 a0007c0005t0004g0094 a0007c0005t0006g0092 a0011c0009t0004g0086	4	446	0.0090	19	c.542 others(34): Show c.542-600_542-599insAAGCCCCTGATCACAGGGG	DRICH1	ENSG00000189269.13	transcript	ENST00000317749.9	protein_coding	8/11			chr22	TogoVar
DROSHA_chr5_31395494_31537093	31397470	A A	ATATATAT others(12): Show ATATATATATATATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18998.hp1 NA18998.hp2 others(1): Show NA18939.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0222 others(1): Show a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0222 a0002c0005t0001g0274	4	322	0.0124	19	c.39 others(30): Show c.3961_*3962insCTATATATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3023		chr5	TogoVar
DSC1_chr18_31124236_31167856	31159047	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0300 a0009c0017t0001g0300	1	378	0.0027	19	c.148 others(34): Show c.148+397_148+398insAAAAAAAAAAAAAAAAAAA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117539606	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0187 a0002c0006t0001g0187	1	194	0.0052	19	c.512 others(36): Show c.512-7103_512-7085dupTTTTTTTTTTTTTTTTTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117575873	A A	AAAACAAA others(12): Show AAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0019 a0001c0009t0002g0019	1	194	0.0052	19	c.512 others(38): Show c.512-43352_512-43351insGTTTTGTTTTGTTTTGTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar

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