Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DPF2_chr11_65328852_65359262	65337494	TATATATA others(15): Show TATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0260 a0001c0001t0010g0260	1	354	0.0028	-22	c.33- others(37): Show c.33-2889_33-2868delTATATATATAGAGAGAGAGAGA	DPF2	ENSG00000133884.11	transcript	ENST00000528416.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
DPF3_chr14_72604034_72899101	72640073	AAAAAAAA others(15): Show AAAAAAAATGGAAACAGCATTAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 NA20129.hp2 HG00733.hp2 HG00738.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0062 a0001c0002t0012 a0001c0001t0062 a0001c0002t0012	a0001c0001t0062g0190 a0001c0002t0012g0003 a0001c0002t0012g0104 a0001c0001t0062g0190 a0001c0002t0012g0003 a0001c0002t0012g0104	3	234	0.0128	-22	c.872 others(41): Show c.872-10359_872-10338delGTAATGCTGTTTCCATTTTTTT	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	8/10			chr14	TogoVar
DPF3_chr14_72604034_72899101	72863058	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01243.hp1 others(17): Show HG01069.hp1 HG01071.hp2 HG01243.hp1 HG01433.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02809.hp1 HG02818.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(12): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0019 a0001c0001t0023 a0001c0001t0032 a0001c0001t0050 a0001c0001t0074 a0001c0001t0080 a0001c0001t0082 a0001c0002t0011 a0001c0002t0023 a0001c0002t0038 a0002c0004t0004	a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0005g0014 others(17): Show a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0005g0014 a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0005g0214 a0001c0001t0006g0012 a0001c0001t0008g0045 a0001c0001t0019g0002 a0001c0001t0023g0107 a0001c0001t0032g0225 a0001c0001t0050g0016 a0001c0001t0074g0048 a0001c0001t0080g0153 a0001c0001t0082g0202 a0001c0002t0011g0011 a0001c0002t0011g0117 a0001c0002t0023g0013 a0001c0002t0038g0006 a0002c0004t0004g0095	20	234	0.0855	-22	c.32+ others(39): Show c.32+30977_32+30998delTATATATATATATATATATATA	DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10			chr14	TogoVar
DPH5_chr1_100984623_101030784	100993559	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG01258.hp1 others(11): Show HG00323.hp1 HG01256.hp1 HG01258.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02129.hp1 HG02155.hp1 HG02738.hp2 HG03654.hp2 HG04204.hp2 NA18962.hp2 NA18965.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0209 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226	14	282	0.0497	-22	c.531 others(37): Show c.531-841_531-820delATATATATATATATATATATAT	DPH5	ENSG00000117543.22	transcript	ENST00000370109.8	protein_coding	6/7			chr1	TogoVar
DPH6_chr15_35365880_35551165	35473913	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	228	0.0044	-22	c.313 others(41): Show c.313-19115_313-19094delACACACACACACACACACACAC	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35514167	TAACTATG others(15): Show TAACTATGTAAATAAAATCTTAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG01109.hp2 others(48): Show HG00280.hp1 HG00544.hp2 HG01109.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01515.hp1 HG02071.hp1 HG02109.hp1 HG02132.hp1 HG02258.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18942.hp1 NA18946.hp1 NA18954.hp1 NA18959.hp1 NA18963.hp1 NA18967.hp1 NA18969.hp1 NA18975.hp1 NA18983.hp2 NA18993.hp1 NA18995.hp1 NA19001.hp2 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp2 NA19078.hp2 NA19082.hp1 NA19087.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0003t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(48): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0141 a0001c0001t0002g0215 a0001c0001t0002g0226 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0197 a0002c0002t0003g0191 a0002c0002t0003g0193 a0003c0003t0002g0140 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0164	51	228	0.2237	-22	c.312 others(41): Show c.312+24085_312+24106delGTAAGATTTTATTTACATAGTT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPH6_chr15_35365880_35551165	35543258	TAATATAT others(15): Show TAATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	228	0.0044	-22	c.24- others(35): Show c.24-773_24-752delTATATATATATATATATATATT	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	1/8			chr15	TogoVar
DPM1_chr20_50929870_50963532	50940086	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03516.hp2 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0068 a0001c0001t0001g0069	2	380	0.0053	-22	c.563 others(37): Show c.563+757_563+778delCACACACACACACACACACACA	DPM1	ENSG00000000419.14	transcript	ENST00000371588.10	protein_coding	7/8			chr20	TogoVar
DPP10_chr2_114437641_115850780	114497139	ATACACGT others(15): Show ATACACGTGTATACATGTAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp2 HG02896.hp2 others(2): Show HG02809.hp1 HG02818.hp2 HG02896.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0003 a0001c0002 a0002c0001 a0003c0003	a0001c0002t0001 a0002c0001t0002 a0003c0003t0003 a0001c0002t0001 a0002c0001t0002 a0003c0003t0003	a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0017 others(2): Show a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0017 a0002c0001t0002g0026 a0003c0003t0003g0001	5	56	0.0893	-22	c.60+ others(39): Show c.60+54319_60+54340delAGGTGTACACGTGTATACATGT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114497258	TGTGTATA others(15): Show TGTGTATACATGTACATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02922.hp1 HG03195.hp1 others(5): Show HG02735.hp2 HG02922.hp1 HG03195.hp1 HG03239.hp1 NA18906.hp1 NA18970.hp2 NA19240.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0001 others(1): Show a0001c0002 a0001c0004 a0002c0001 a0003c0003	a0001c0002t0001 a0001c0004t0004 a0002c0001t0001 others(3): Show a0001c0002t0001 a0001c0004t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0003c0003t0003	a0001c0002t0001g0041 a0001c0004t0004g0056 a0002c0001t0001g0033 others(5): Show a0001c0002t0001g0041 a0001c0004t0004g0056 a0002c0001t0001g0033 a0002c0001t0002g0011 a0002c0001t0002g0050 a0002c0001t0002g0051 a0002c0001t0005g0027 a0003c0003t0003g0008	8	56	0.1429	-22	c.60+ others(39): Show c.60+54481_60+54502delGTATACGTGTATACATGTACAT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114902526	TTTCAAAG others(15): Show TTTCAAAGGAATCGTGGCTATTA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp2 NA20129.hp1 HG02280.hp1 HG03195.hp2 NA20129.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0001 a0005c0008 a0001c0002 a0002c0001 a0005c0008	a0001c0002t0001 a0002c0001t0001 a0005c0008t0010 a0001c0002t0001 a0002c0001t0001 a0005c0008t0010	a0001c0002t0001g0015 a0002c0001t0001g0040 a0005c0008t0010g0036 a0001c0002t0001g0015 a0002c0001t0001g0040 a0005c0008t0010g0036	3	56	0.0536	-22	c.61- others(41): Show c.61-406710_61-406689delCAAAGGAATCGTGGCTATTATT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115155385	TCTCCATG others(15): Show TCTCCATGTGAAAGGTCAGGGGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0003 a0006c0006t0006g0003	1	56	0.0179	-22	c.61- others(41): Show c.61-153852_61-153831delTCCATGTGAAAGGTCAGGGGAC	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115548394	AAAATACA others(15): Show AAAATACATGCATGGAGGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02818.hp2 NA18970.hp1 others(1): Show HG01175.hp2 HG02818.hp2 NA18970.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0002 a0002c0001t0015 a0001c0002t0001 a0002c0001t0002 a0002c0001t0015	a0001c0002t0001g0019 a0001c0002t0001g0047 a0002c0001t0002g0026 others(1): Show a0001c0002t0001g0019 a0001c0002t0001g0047 a0002c0001t0002g0026 a0002c0001t0015g0018	4	56	0.0714	-22	c.441 others(41): Show c.441+22424_441+22445delAATACATGCATGGAGGAGGTGA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154575570	ATATGTGT others(15): Show ATATGTGTATGTGTGAGCGGGTG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0009 a0001c0018t0009	a0001c0018t0009g0023 a0001c0018t0009g0023	1	38	0.0263	-22	c.627 others(39): Show c.627+8662_627+8683delATGTGTGAGCGGGTGTATGTGT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154883856	CATGATTA others(15): Show CATGATTACACATGCTCCCACAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01433.hp2 others(20): Show HG00673.hp1 HG00673.hp2 HG01433.hp2 HG01952.hp1 HG01952.hp2 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02965.hp1 HG02965.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18747.hp2 NA19043.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0001c0011 others(14): Show a0001c0003 a0001c0006 a0001c0011 a0001c0016 a0001c0018 a0001c0020 a0001c0021 a0002c0002 a0002c0004 a0002c0008 a0002c0012 a0002c0013 a0002c0014 a0002c0019 a0002c0022 a0002c0026 a0002c0028	a0001c0003t0007 a0001c0003t0008 a0001c0006t0002 others(20): Show a0001c0003t0007 a0001c0003t0008 a0001c0006t0002 a0001c0006t0003 a0001c0011t0003 a0001c0016t0013 a0001c0018t0009 a0001c0020t0001 a0001c0021t0011 a0002c0002t0002 a0002c0002t0022 a0002c0002t0029 a0002c0004t0004 a0002c0004t0006 a0002c0008t0006 a0002c0008t0012 a0002c0012t0021 a0002c0013t0018 a0002c0014t0025 a0002c0019t0001 a0002c0022t0023 a0002c0026t0026 a0002c0028t0002	a0001c0003t0007g0024 a0001c0003t0008g0025 a0001c0006t0002g0015 others(20): Show a0001c0003t0007g0024 a0001c0003t0008g0025 a0001c0006t0002g0015 a0001c0006t0003g0013 a0001c0011t0003g0012 a0001c0016t0013g0014 a0001c0018t0009g0023 a0001c0020t0001g0010 a0001c0021t0011g0022 a0002c0002t0002g0020 a0002c0002t0022g0030 a0002c0002t0029g0002 a0002c0004t0004g0008 a0002c0004t0006g0028 a0002c0008t0006g0034 a0002c0008t0012g0001 a0002c0012t0021g0035 a0002c0013t0018g0026 a0002c0014t0025g0029 a0002c0019t0001g0021 a0002c0022t0023g0027 a0002c0026t0026g0006 a0002c0028t0002g0016	23	38	0.6053	-22	c.213 others(41): Show c.2134-1775_2134-1754delTGATTACACATGCTCCCACATA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP8_chr15_65437467_65522689	65448865	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01256.hp2 HG01515.hp1 others(7): Show HG00140.hp1 HG01256.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02148.hp2 HG02273.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0038 a0001c0001t0039 a0001c0001t0002 a0001c0001t0038 a0001c0001t0039	a0001c0001t0002g0109 a0001c0001t0002g0120 a0001c0001t0002g0126 others(7): Show a0001c0001t0002g0109 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0038g0128 a0001c0001t0039g0124	10	336	0.0298	-22	c.252 others(41): Show c.2527-1881_2527-1860delATATATATATATATATATATAT	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	19/19			chr15	TogoVar
DPP9_chr19_4670227_4728842	4672168	CATATATT others(15): Show CATATATTCATATATACTTATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03225.hp2 HG01891.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0022 a0002c0005t0006g0023 a0002c0005t0006g0022 a0002c0005t0006g0023	2	314	0.0064	-22	c.43 others(33): Show c.4374_*4395delATATAAGTATATATGAATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3058		chr19	TogoVar
DPP9_chr19_4670227_4728842	4672242	TGAATATA others(15): Show TGAATATATATTCATATATATGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03486.hp1 NA19074.hp1 HG01884.hp1 HG03486.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0105 a0001c0001t0003g0126 a0001c0001t0003g0127	3	314	0.0096	-22	c.43 others(33): Show c.4300_*4321delTCATATATATGAATATATATTC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2984		chr19	TogoVar
DPP9_chr19_4670227_4728842	4672327	ATTCATAT others(15): Show ATTCATATATTCATATATATACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02040.hp1 HG02109.hp1 others(12): Show HG00597.hp1 HG02040.hp1 HG02109.hp1 HG02155.hp1 HG02486.hp1 HG02647.hp2 HG02818.hp1 HG02976.hp2 HG03139.hp1 HG06807.hp1 NA18906.hp1 NA18974.hp2 NA18998.hp2 NA19090.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0014 a0001c0002t0019 others(1): Show a0001c0002t0002 a0001c0002t0014 a0001c0002t0019 a0001c0004t0003	a0001c0002t0002g0004 a0001c0002t0002g0046 a0001c0002t0002g0047 others(12): Show a0001c0002t0002g0004 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0014g0157 a0001c0002t0019g0024 a0001c0004t0003g0040 a0001c0004t0003g0080 a0001c0004t0003g0107 a0001c0004t0003g0108 a0001c0004t0003g0111 a0001c0004t0003g0130	15	314	0.0478	-22	c.42 others(33): Show c.4215_*4236delAGTATATATATGAATATATGAA	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2899		chr19	TogoVar
DPP9_chr19_4670227_4728842	4701931	GCAGCTCA others(15): Show GCAGCTCAGAGGGCCTGGGGGAC	G G	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	314	0.0032	-22	c.101 others(37): Show c.1012+74_1012+95delGTCCCCCAGGCCCTCTGAGCTG	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding	9/21			chr19	TogoVar
DPY19L4_chr8_94714900_94798836	94715996	TATTACAG others(15): Show TATTACAGGCATGAGCCACCGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0024 a0005c0013t0024	a0005c0013t0024g0059 a0005c0013t0024g0059	1	290	0.0035	-22	c.-40 others(33): Show c.-4002_-3981delATTACAGGCATGAGCCACCGGG	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding		3903		chr8	TogoVar
DPYD_chr1_97072743_97926034	97173249	CATATATG others(15): Show CATATATGCACACATATGTACAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03098.hp2 NA18522.hp2 HG00735.hp2 HG03098.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0046 a0001c0001t0002g0030 a0002c0002t0001g0011 a0001c0001t0001g0046 a0001c0001t0002g0030 a0002c0002t0001g0011	3	52	0.0577	-22	c.262 others(43): Show c.2622+19798_2622+19819delATGTACATATGTGTGCATATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97195634	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02965.hp1 NA20300.hp1 HG02004.hp1 HG02965.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0002 a0002c0002t0001 a0004c0004t0003 a0001c0001t0002 a0002c0002t0001 a0004c0004t0003	a0001c0001t0002g0004 a0002c0002t0001g0023 a0004c0004t0003g0039 a0001c0001t0002g0004 a0002c0002t0001g0023 a0004c0004t0003g0039	3	52	0.0577	-22	c.244 others(41): Show c.2443-2408_2443-2387delTATATATATATATATATATATA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	19/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97223517	GTAATGAA others(15): Show GTAATGAATTGTAATGGCAGTAT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0026 a0004c0004t0001g0026	1	52	0.0192	-22	c.244 others(43): Show c.2442+11313_2442+11334delATACTGCCATTACAATTCATTA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	19/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97586465	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	52	0.0192	-22	c.112 others(41): Show c.1128+6731_1128+6752delATATATATATATATATATATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	10/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97751446	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02572.hp2 HG02717.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0004 a0005c0006t0001 a0005c0006t0004	a0005c0006t0001g0036 a0005c0006t0004g0035 a0005c0006t0001g0036 a0005c0006t0004g0035	2	52	0.0385	-22	c.234 others(41): Show c.234-10989_234-10968delTATATATACACACACACACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	3/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97751450	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0013 a0003c0003t0005g0013	1	52	0.0192	-22	c.234 others(41): Show c.234-10993_234-10972delTATATATATATACACACACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	3/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97751456	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp1 HG02976.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0008 a0002c0002t0002g0005 a0002c0002t0001g0008 a0002c0002t0002g0005	2	52	0.0385	-22	c.234 others(41): Show c.234-10999_234-10978delTATATATATATATATATACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	3/22			chr1	TogoVar
DPYSL2_chr8_26509031_26663175	26622454	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01070.hp1 others(11): Show HG00323.hp2 HG00741.hp2 HG01070.hp1 HG01255.hp1 HG01256.hp1 HG01496.hp1 HG01515.hp1 HG01934.hp2 HG03017.hp1 HG03130.hp1 HG03491.hp1 HG03710.hp2 HG04184.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0007 a0001c0001t0051 a0001c0002t0001 others(5): Show a0001c0001t0007 a0001c0001t0051 a0001c0002t0001 a0001c0002t0040 a0001c0004t0002 a0001c0004t0007 a0001c0007t0006 a0001c0007t0041	a0001c0001t0007g0073 a0001c0001t0007g0086 a0001c0001t0007g0091 others(11): Show a0001c0001t0007g0073 a0001c0001t0007g0086 a0001c0001t0007g0091 a0001c0001t0051g0085 a0001c0002t0001g0084 a0001c0002t0040g0033 a0001c0004t0002g0061 a0001c0004t0007g0055 a0001c0004t0007g0056 a0001c0004t0007g0063 a0001c0007t0006g0057 a0001c0007t0006g0059 a0001c0007t0006g0060 a0001c0007t0041g0058	14	316	0.0443	-22	c.629 others(39): Show c.629-1669_629-1648delATATGTGTGTGTGTGTGTGTGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26626482	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0037 a0001c0008t0037	a0001c0008t0037g0053 a0001c0008t0037g0053	1	316	0.0032	-22	c.794 others(36): Show c.794-116_794-95delACACACACACACACACACACAC	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL4_chr10_132181948_132210759	132205960	CAACATCC others(15): Show CAACATCCAGGGCGGGACAGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01943.hp2 HG01981.hp1 others(4): Show HG01928.hp1 HG01943.hp2 HG01981.hp1 HG02886.hp1 HG02897.hp2 NA18522.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0013 a0001c0001t0036 a0001c0002t0035 others(2): Show a0001c0001t0013 a0001c0001t0036 a0001c0002t0035 a0001c0003t0004 a0001c0013t0004	a0001c0001t0013g0018 a0001c0001t0036g0076 a0001c0002t0035g0152 others(3): Show a0001c0001t0013g0018 a0001c0001t0036g0076 a0001c0002t0035g0152 a0001c0003t0004g0037 a0001c0003t0004g0061 a0001c0013t0004g0182	7	418	0.0168	-22	c.10 others(33): Show c.1031_*1052delAACATCCAGGGCGGGACAGAGG	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		202		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26931197	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp1 NA20300.hp1 HG02109.hp1 HG02922.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0032 a0001c0004t0003 a0001c0001t0032 a0001c0004t0003	a0001c0001t0032g0077 a0001c0004t0003g0011 a0001c0004t0003g0064 a0001c0001t0032g0077 a0001c0004t0003g0011 a0001c0004t0003g0064	3	232	0.0129	-22	c.670 others(37): Show c.670-441_670-420delGTGTGTATATATATATATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931203	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02970.hp2 HG02976.hp2 others(1): Show HG02615.hp1 HG02970.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0003 a0001c0001t0009 a0001c0002t0039 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0002t0039 a0001c0007t0040	a0001c0001t0003g0068 a0001c0001t0009g0039 a0001c0002t0039g0019 others(1): Show a0001c0001t0003g0068 a0001c0001t0009g0039 a0001c0002t0039g0019 a0001c0007t0040g0169	4	232	0.0172	-22	c.670 others(37): Show c.670-431_670-410delATATATATATATATATATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYS_chr8_104374431_104472055	104403417	TTGCCACC others(15): Show TTGCCACCATCTTGGAAGCAGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp1 others(83): Show HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01106.hp2 HG01346.hp1 HG02055.hp2 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG03017.hp2 HG03239.hp1 HG03492.hp1 HG03540.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18993.hp2 NA18997.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp1 NA19076.hp2 NA19077.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19090.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0011 others(4): Show a0001c0001 a0001c0002 a0001c0011 a0001c0016 a0002c0006 a0002c0015 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0011t0001 a0001c0016t0001 a0002c0006t0006 a0002c0015t0001 a0003c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0001g0059 others(79): Show a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0002g0274 a0001c0001t0002g0280 a0001c0001t0002g0286 a0001c0001t0002g0311 a0001c0001t0002g0324 a0001c0001t0002g0345 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0201 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0002g0021 a0001c0002t0004g0169 a0001c0002t0004g0173 a0001c0011t0001g0200 a0001c0011t0001g0202 a0001c0016t0001g0251 a0002c0006t0006g0047 a0002c0015t0001g0222 a0003c0007t0001g0252	86	380	0.2263	-22	c.123 others(43): Show c.1236-10448_1236-10427delGGCTGCTTCCAAGATGGTGGCA	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	7/9			chr8	TogoVar
DRAM2_chr1_111112163_111145093	111120381	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	440	0.0023	-22	c.517 others(37): Show c.517+113_517+134delTTTTTTTTTTTTTTTTTTTTTT	DRAM2	ENSG00000156171.15	transcript	ENST00000484310.6	protein_coding	7/9			chr1	TogoVar
DRC1_chr2_26396920_26461711	26418555	AATTTATA others(15): Show AATTTATATATAATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01167.hp2 HG01243.hp2 others(8): Show HG00733.hp1 HG01167.hp2 HG01243.hp2 HG01891.hp2 HG02109.hp2 HG02559.hp2 HG02922.hp1 HG03471.hp1 HG03579.hp1 NA18522.hp1 NA20300.hp1	a0008 a0011 a0012 others(1): Show a0008 a0011 a0012 a0013	a0008c0011 a0011c0015 a0012c0014 others(1): Show a0008c0011 a0011c0015 a0012c0014 a0013c0017	a0008c0011t0001 a0008c0011t0005 a0011c0015t0001 others(2): Show a0008c0011t0001 a0008c0011t0005 a0011c0015t0001 a0012c0014t0001 a0013c0017t0005	a0008c0011t0001g0323 a0008c0011t0001g0324 a0008c0011t0001g0333 others(7): Show a0008c0011t0001g0323 a0008c0011t0001g0324 a0008c0011t0001g0333 a0008c0011t0005g0310 a0011c0015t0001g0016 a0011c0015t0001g0357 a0012c0014t0001g0051 a0012c0014t0001g0311 a0012c0014t0001g0325 a0013c0017t0005g0309	11	384	0.0287	-22	c.244 others(39): Show c.244-2730_244-2709delTTATATATAATATATATTATAT	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRD3_chr3_114122580_114184052	114156721	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(32): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00639.hp2 HG00741.hp1 HG01074.hp1 HG01243.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01884.hp2 HG02155.hp1 HG02155.hp2 HG02630.hp1 HG02683.hp1 HG02922.hp1 HG02970.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18973.hp2 NA18983.hp1 NA18990.hp2 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19066.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0001c0006 a0002c0001 others(2): Show a0001c0002 a0001c0006 a0002c0001 a0003c0005 a0006c0011	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(7): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0006t0008 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0006 a0003c0005t0003 a0006c0011t0016	a0001c0002t0001g0046 a0001c0002t0001g0227 a0001c0002t0001g0327 others(29): Show a0001c0002t0001g0046 a0001c0002t0001g0227 a0001c0002t0001g0327 a0001c0002t0003g0059 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0004g0321 a0001c0002t0004g0323 a0001c0002t0004g0325 a0001c0002t0004g0332 a0001c0002t0004g0337 a0001c0002t0004g0338 a0001c0006t0008g0024 a0002c0001t0001g0001 a0002c0001t0001g0041 a0002c0001t0001g0082 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0002g0007 a0002c0001t0002g0117 a0002c0001t0002g0120 a0002c0001t0002g0121 a0002c0001t0002g0122 a0002c0001t0002g0143 a0002c0001t0002g0151 a0002c0001t0002g0162 a0002c0001t0003g0097 a0002c0001t0006g0016 a0003c0005t0003g0236 a0006c0011t0016g0052	35	360	0.0972	-22	c.383 others(39): Show c.383+3012_383+3033delAAGAAAGAAAGAAAGAAAGAAA	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DRG2_chr17_18082948_18112969	18090368	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp2 others(95): Show HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00733.hp1 HG00735.hp2 HG01071.hp2 HG01109.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01891.hp1 HG01934.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp2 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0010 others(2): Show a0001c0001 a0001c0004 a0001c0010 a0001c0013 a0004c0012	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0004t0001 a0001c0010t0001 a0001c0013t0001 a0004c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0007g0223 a0001c0001t0008g0009 a0001c0001t0010g0215 a0001c0004t0001g0018 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0057 a0001c0010t0001g0195 a0001c0013t0001g0033 a0004c0012t0001g0002	98	418	0.2345	-22	c.64+ others(37): Show c.64+2299_64+2320delATATATATATATATATATATAT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRG2_chr17_18082948_18112969	18090386	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02896.hp2 HG02897.hp2 HG02155.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0188 a0001c0004t0001g0054 a0001c0004t0001g0055 a0001c0001t0001g0188 a0001c0004t0001g0054 a0001c0004t0001g0055	3	418	0.0072	-22	c.64+ others(37): Show c.64+2301_64+2322delATATATATATATATATATATTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRG2_chr17_18082948_18112969	18090388	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG02886.hp2 HG01070.hp2 HG01074.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0187 a0001c0001t0001g0027 a0001c0001t0001g0187	3	418	0.0072	-22	c.64+ others(37): Show c.64+2303_64+2324delATATATATATATATATATTTTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRG2_chr17_18082948_18112969	18090392	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp2 HG02896.hp1 HG02258.hp1 HG02809.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0183 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0183	3	418	0.0072	-22	c.64+ others(37): Show c.64+2307_64+2328delATATATATATATATTTTTTTTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DROSHA_chr5_31395494_31537093	31436741	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG02896.hp2 others(2): Show HG01884.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0004c0015 a0001c0007 a0004c0015	a0001c0007t0001 a0004c0015t0003 a0001c0007t0001 a0004c0015t0003	a0001c0007t0001g0026 a0001c0007t0001g0027 a0001c0007t0001g0028 others(2): Show a0001c0007t0001g0026 a0001c0007t0001g0027 a0001c0007t0001g0028 a0001c0007t0001g0029 a0004c0015t0003g0301	5	322	0.0155	-22	c.294 others(39): Show c.2942+476_2942+497delGTGTGTGTGTGTGTGTGTGTGT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	24/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31493937	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp2 HG03225.hp1 HG02717.hp1 HG03041.hp2 HG03225.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0027 a0004c0009 a0001c0003 a0001c0027 a0004c0009	a0001c0003t0015 a0001c0027t0001 a0004c0009t0013 a0001c0003t0015 a0001c0027t0001 a0004c0009t0013	a0001c0003t0015g0086 a0001c0027t0001g0053 a0004c0009t0013g0256 a0001c0003t0015g0086 a0001c0027t0001g0053 a0004c0009t0013g0256	3	322	0.0093	-22	c.175 others(39): Show c.1756-666_1756-645delCACACACACACACACACACACA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	12/35			chr5	TogoVar
DSC3_chr18_30984365_31047742	31032575	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19030.hp2 HG02257.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0031 a0001c0014t0112 a0001c0001t0031 a0001c0014t0112	a0001c0001t0031g0368 a0001c0014t0112g0369 a0001c0001t0031g0368 a0001c0014t0112g0369	2	392	0.0051	-22	c.70- others(35): Show c.70-321_70-300delGCACACGCACACACACACACAC	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31032587	TGTGCGTG others(15): Show TGTGCGTGTGCGTGTGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0030 a0008c0019t0030	a0008c0019t0030g0279 a0008c0019t0030g0279	1	392	0.0026	-22	c.70- others(35): Show c.70-333_70-312delGCACACGCACACGCACACGCAC	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117757573	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01123.hp2 others(14): Show HG00642.hp2 HG00738.hp1 HG01123.hp2 HG01884.hp1 HG01891.hp2 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0001c0009 a0001c0012 others(13): Show a0001c0008 a0001c0009 a0001c0012 a0001c0015 a0001c0024 a0001c0047 a0001c0050 a0001c0051 a0001c0054 a0002c0001 a0002c0002 a0002c0004 a0002c0006 a0002c0010 a0002c0062 a0002c0066	a0001c0008t0004 a0001c0009t0002 a0001c0012t0003 others(14): Show a0001c0008t0004 a0001c0009t0002 a0001c0012t0003 a0001c0015t0005 a0001c0024t0003 a0001c0047t0002 a0001c0050t0001 a0001c0051t0002 a0001c0054t0002 a0002c0001t0002 a0002c0002t0004 a0002c0004t0002 a0002c0004t0004 a0002c0006t0001 a0002c0010t0004 a0002c0062t0002 a0002c0066t0002	a0001c0008t0004g0100 a0001c0009t0002g0180 a0001c0012t0003g0094 others(14): Show a0001c0008t0004g0100 a0001c0009t0002g0180 a0001c0012t0003g0094 a0001c0015t0005g0008 a0001c0024t0003g0073 a0001c0047t0002g0057 a0001c0050t0001g0022 a0001c0051t0002g0010 a0001c0054t0002g0173 a0002c0001t0002g0115 a0002c0002t0004g0004 a0002c0004t0002g0005 a0002c0004t0004g0151 a0002c0006t0001g0156 a0002c0010t0004g0116 a0002c0062t0002g0117 a0002c0066t0002g0070	17	194	0.0876	-22	c.511 others(41): Show c.511+19196_511+19217delGTGTGTGTGTGTGTGTGTGTGT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DST_chr6_56452996_56959830	56853539	GTGAGATT others(15): Show GTGAGATTATATTTCTTGTTACC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0030 a0030	a0030c0043 a0030c0043	a0030c0043t0001 a0030c0043t0001	a0030c0043t0001g0023 a0030c0043t0001g0023	1	84	0.0119	-22	c.418 others(39): Show c.418-1957_418-1936delGGTAACAAGAAATATAATCTCA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	3/103			chr6	TogoVar
DTD1_chr20_18583054_18771644	18708276	TAATATAT others(15): Show TAATATATATTATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	398	0.0025	-22	c.478 others(41): Show c.478-35823_478-35802delAATATATATTATATATATATAA	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5			chr20	TogoVar
DTD1_chr20_18583054_18771644	18766751	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	398	0.0025	-22	c.34 others(33): Show c.3412_*3433delAAAAAAAAAAAAAAAAAGAAAG	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding		108		chr20	TogoVar
DTL_chr1_212030748_212110013	212051442	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02896.hp1 HG00642.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0146 a0001c0001t0019g0251 a0001c0001t0001g0146 a0001c0001t0019g0251	2	364	0.0055	-22	c.460 others(39): Show c.460+4048_460+4069delTTTTTTTTTTTTTTTTTTTTTT	DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

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