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
DPY19L4_chr8_94714900_94798836	94764689	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	290	0.0035	16	c.871 others(31): Show c.871-493_871-492insGTGTGTGTGTGTGTAT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYD_chr1_97072743_97926034	97102396	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0007 a0003c0003t0002g0007	1	52	0.0192	16	c.262 others(35): Show c.2623-3780_2623-3765dupATATATATATATATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97102459	T T	TTATCTAT others(9): Show TTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02132.hp1 HG02976.hp1 others(2): Show HG01257.hp1 HG02132.hp1 HG02976.hp1 HG03471.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0003t0004	a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0003g0025 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0003g0025 a0002c0002t0001g0008 a0003c0003t0004g0015	5	52	0.0962	16	c.262 others(35): Show c.2623-3843_2623-3828dupGATAGATAGATAGATA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97134014	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0035 a0005c0006t0004g0035	1	52	0.0192	16	c.262 others(37): Show c.2623-35383_2623-35382insATATATATATATATTT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97152439	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0032 a0005c0006t0002g0032	1	52	0.0192	16	c.262 others(37): Show c.2622+40614_2622+40629dupGTGTGTGTGTGTGTGT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97176868	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02976.hp2 others(1): Show HG02572.hp2 HG02717.hp1 HG02976.hp2 HG03098.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0002c0002 a0005c0006 others(1): Show a0001c0001 a0002c0002 a0005c0006 a0009c0013	a0001c0001t0001 a0002c0002t0003 a0005c0006t0004 others(1): Show a0001c0001t0001 a0002c0002t0003 a0005c0006t0004 a0009c0013t0004	a0001c0001t0001g0042 a0002c0002t0003g0018 a0005c0006t0004g0035 others(1): Show a0001c0001t0001g0042 a0002c0002t0003g0018 a0005c0006t0004g0035 a0009c0013t0004g0020	4	52	0.0769	16	c.262 others(37): Show c.2622+16185_2622+16200dupCACACACACACACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97257452	T T	TATATATA others(9): Show TATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	52	0.0192	16	c.230 others(37): Show c.2300-22459_2300-22458insCTCTCTATATATATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	18/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97525758	T T	TAGAGAGA others(9): Show TAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02004.hp1 HG03195.hp2 others(1): Show HG01257.hp2 HG02004.hp1 HG03195.hp2 NA18906.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0003 a0004c0004t0002 a0004c0004t0003 a0002c0002t0003 a0004c0004t0002 a0004c0004t0003	a0002c0002t0003g0048 a0004c0004t0002g0003 a0004c0004t0002g0027 others(1): Show a0002c0002t0003g0048 a0004c0004t0002g0003 a0004c0004t0002g0027 a0004c0004t0003g0039	4	52	0.0769	16	c.152 others(35): Show c.1525-9833_1525-9818dupCTCTCTCTCTCTCTCT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	12/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97751460	G G	GTGTGTGT others(9): Show GTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	52	0.0192	16	c.234 others(35): Show c.234-10982_234-10981insTATATATATACACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	3/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97751460	G G	GTGTGTGT others(9): Show GTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	52	0.0192	16	c.234 others(35): Show c.234-10982_234-10981insTATATATACACACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	3/22			chr1	TogoVar
DPYSL2_chr8_26509031_26663175	26535616	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	316	0.0032	16	c.354 others(35): Show c.354+20942_354+20957dupATATATATATATATAT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26537611	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00741.hp1 others(21): Show HG00140.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02109.hp2 HG03239.hp2 NA18970.hp2 NA18977.hp1 NA18979.hp2 NA18989.hp2 NA18993.hp2 NA19063.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0019	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(9): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0026 a0001c0001t0031 a0001c0001t0033 a0001c0002t0001 a0001c0002t0004 a0001c0002t0023 a0001c0002t0045 a0001c0003t0009 a0001c0019t0010	a0001c0001t0002g0128 a0001c0001t0011g0001 a0001c0001t0011g0258 others(20): Show a0001c0001t0002g0128 a0001c0001t0011g0001 a0001c0001t0011g0258 a0001c0001t0011g0293 a0001c0001t0011g0294 a0001c0001t0011g0304 a0001c0001t0012g0018 a0001c0001t0012g0022 a0001c0001t0012g0023 a0001c0001t0012g0025 a0001c0001t0012g0217 a0001c0001t0026g0274 a0001c0001t0031g0024 a0001c0001t0033g0021 a0001c0002t0001g0169 a0001c0002t0001g0180 a0001c0002t0001g0307 a0001c0002t0004g0269 a0001c0002t0023g0017 a0001c0002t0023g0019 a0001c0002t0045g0280 a0001c0003t0009g0109 a0001c0019t0010g0092	24	316	0.0760	16	c.354 others(35): Show c.354+22940_354+22955dupCACACACACACACACA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556254	A A	ATATAGTA others(9): Show ATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0024 a0001c0001t0031g0024	1	316	0.0032	16	c.355 others(35): Show c.355-25711_355-25710insGTATATATATAGTATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26567280	C C	CCCATCCA others(9): Show CCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02451.hp1 others(6): Show HG02109.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02717.hp2 HG03098.hp1 HG03195.hp1 HG03516.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0016 others(2): Show a0001c0001 a0001c0004 a0001c0016 a0001c0019 a0005c0021	a0001c0001t0008 a0001c0001t0017 a0001c0004t0002 others(5): Show a0001c0001t0008 a0001c0001t0017 a0001c0004t0002 a0001c0004t0005 a0001c0004t0014 a0001c0016t0018 a0001c0019t0010 a0005c0021t0008	a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0017g0070 others(6): Show a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0017g0070 a0001c0004t0002g0066 a0001c0004t0005g0067 a0001c0004t0014g0064 a0001c0016t0018g0065 a0001c0019t0010g0092 a0005c0021t0008g0050	9	316	0.0285	16	c.355 others(35): Show c.355-14674_355-14673insTCCATCCATCCATCCA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26567355	C C	CCCATCCA others(9): Show CCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG03516.hp1 HG02451.hp1 HG02559.hp2 HG03516.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0021 a0001c0001 a0005c0021	a0001c0001t0008 a0005c0021t0008 a0001c0001t0008 a0005c0021t0008	a0001c0001t0008g0051 a0001c0001t0008g0052 a0005c0021t0008g0050 a0001c0001t0008g0051 a0001c0001t0008g0052 a0005c0021t0008g0050	3	316	0.0095	16	c.355 others(35): Show c.355-14612_355-14597dupCATCCATCCATCCATC	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26577101	A A	AGCCTTCC others(9): Show AGCCTTCCCCGGATGCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0218 a0001c0001t0048g0218	1	316	0.0032	16	c.355 others(33): Show c.355-4867_355-4852dupGCCTTCCCCGGATGCC	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26622090	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0192 a0001c0001t0014g0192	1	316	0.0032	16	c.629 others(33): Show c.629-2000_629-1985dupTTCCTTCCTTCCTTCC	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26622090	T T	TTTCTTTC others(9): Show TTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01255.hp1 HG01934.hp2 others(1): Show HG01070.hp1 HG01255.hp1 HG01934.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0007 a0001c0004t0007 a0001c0007t0006 a0001c0001t0007 a0001c0004t0007 a0001c0007t0006	a0001c0001t0007g0086 a0001c0004t0007g0055 a0001c0004t0007g0056 others(1): Show a0001c0001t0007g0086 a0001c0004t0007g0055 a0001c0004t0007g0056 a0001c0007t0006g0060	4	316	0.0127	16	c.629 others(33): Show c.629-2050_629-2049insTTTCCTTCCTTCCTTC	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26622155	T T	TTCCCTCC others(9): Show TTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0184 a0001c0001t0054g0184	1	316	0.0032	16	c.629 others(33): Show c.629-1982_629-1981insCCTCCCTCCCTCCCTC	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26622155	T T	TTCCTTCC others(9): Show TTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	316	0.0032	16	c.629 others(33): Show c.629-1985_629-1984insTTCCCTCCCTCCCTCC	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26622158	C C	CCTCCCTC others(9): Show CCTCCCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0295 a0001c0002t0001g0295	1	316	0.0032	16	c.629 others(33): Show c.629-1982_629-1981insCCTCCCTCCCTCTCTC	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26622158	C C	CTTCCCTC others(9): Show CTTCCCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(27): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01346.hp2 HG01884.hp1 HG01934.hp1 HG02074.hp1 HG02129.hp2 HG02155.hp2 HG02293.hp2 HG02970.hp2 HG03225.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp1 NA18950.hp2 NA18978.hp1 NA18982.hp2 NA19062.hp1 NA19066.hp2 NA19091.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0027 a0001c0001t0038 a0001c0002t0001 a0001c0002t0009	a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0168 others(26): Show a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0168 a0001c0001t0002g0237 a0001c0001t0002g0275 a0001c0001t0002g0285 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0003g0142 a0001c0001t0004g0292 a0001c0001t0007g0159 a0001c0001t0010g0071 a0001c0001t0011g0001 a0001c0001t0011g0258 a0001c0001t0011g0293 a0001c0001t0011g0294 a0001c0001t0013g0046 a0001c0001t0013g0047 a0001c0001t0027g0259 a0001c0001t0027g0260 a0001c0001t0038g0193 a0001c0002t0001g0137 a0001c0002t0001g0256 a0001c0002t0001g0265 a0001c0002t0001g0271 a0001c0002t0001g0276 a0001c0002t0001g0279 a0001c0002t0001g0290 a0001c0002t0009g0266	30	316	0.0949	16	c.629 others(33): Show c.629-1985_629-1984insTTCCCTCCCTCCCTCT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	3/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26622158	C C	CTTCCTTC others(9): Show CTTCCTTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	316	0.0032	16	c.629 others(33): Show c.629-1985_629-1984insTTCCTTCCCTCCCTCT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	3/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26622158	C C	CTTCCTTC others(9): Show CTTCCTTCCTTCCCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG06807.hp1 NA19079.hp2 others(1): Show HG02055.hp2 HG06807.hp1 NA19079.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0005	a0001c0001t0005 a0001c0002t0004 a0001c0008t0025 others(1): Show a0001c0001t0005 a0001c0002t0004 a0001c0008t0025 a0002c0005t0003	a0001c0001t0005g0204 a0001c0002t0004g0048 a0001c0008t0025g0016 others(1): Show a0001c0001t0005g0204 a0001c0002t0004g0048 a0001c0008t0025g0016 a0002c0005t0003g0010	4	316	0.0127	16	c.629 others(33): Show c.629-1985_629-1984insTTCCTTCCTTCCCTCT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	3/13			chr8	TogoVar
DPYSL3_chr5_147385808_147515068	147510735	T T	TCACACAC others(9): Show TCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 NA18906.hp2 NA18999.hp2 others(1): Show HG03654.hp2 NA18906.hp2 NA18999.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0005t0002 a0001c0007t0002 a0001c0001t0001 a0001c0005t0002 a0001c0007t0002	a0001c0001t0001g0012 a0001c0005t0002g0258 a0001c0007t0002g0013 others(1): Show a0001c0001t0001g0012 a0001c0005t0002g0258 a0001c0007t0002g0013 a0001c0007t0002g0030	4	298	0.0134	16	c.-87 others(25): Show c.-878_-877insTGTGTGTGTGTGTGTG	DPYSL3	ENSG00000113657.13	transcript	ENST00000343218.10	protein_coding		668		chr5	TogoVar
DPYSL4_chr10_132181948_132210759	132186842	T T	TGGGGCGG others(9): Show TGGGGCGGGCCCTATCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG02129.hp1 HG03831.hp2 others(1): Show HG01258.hp2 HG02129.hp1 HG03831.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0008 a0001c0001t0004 a0001c0002t0001 a0001c0002t0008	a0001c0001t0004g0057 a0001c0002t0001g0108 a0001c0002t0008g0036 a0001c0001t0004g0057 a0001c0002t0001g0108 a0001c0002t0008g0036	4	418	0.0096	16	c.-22 others(25): Show c.-222_-221insGGGGCGGGCCCTATCG	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		105		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132186851	C C	CCCTATCG others(9): Show CCCTATCGGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(250): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0016 a0001c0017 a0001c0020 a0001c0021 a0001c0022 a0001c0026 a0001c0027 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0035 a0001c0003t0001 a0001c0007t0001 a0001c0007t0004 a0001c0007t0014 a0001c0009t0010 a0001c0011t0001 a0001c0013t0004 a0001c0016t0012 a0001c0017t0006 a0001c0020t0010 a0001c0021t0001 a0001c0022t0004 a0001c0026t0001 a0001c0027t0002 a0005c0019t0002	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(123): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0176 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0187 a0001c0001t0004g0035 a0001c0001t0004g0059 a0001c0001t0004g0133 a0001c0001t0004g0148 a0001c0001t0004g0179 a0001c0001t0006g0001 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 a0001c0001t0006g0127 a0001c0001t0006g0178 a0001c0001t0012g0019 a0001c0001t0012g0180 a0001c0001t0012g0181 a0001c0001t0013g0018 a0001c0001t0014g0166 a0001c0001t0016g0006 a0001c0001t0016g0115 a0001c0001t0020g0024 a0001c0001t0021g0024 a0001c0001t0029g0006 a0001c0001t0031g0197 a0001c0001t0033g0175 a0001c0001t0034g0113 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0102 a0001c0002t0001g0107 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0002t0001g0139 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0014g0007 a0001c0002t0014g0154 a0001c0002t0035g0152 a0001c0003t0001g0142 a0001c0007t0001g0030 a0001c0007t0001g0138 a0001c0007t0004g0048 a0001c0007t0004g0058 a0001c0007t0004g0155 a0001c0007t0014g0126 a0001c0009t0010g0013 a0001c0009t0010g0188 a0001c0009t0010g0189 a0001c0011t0001g0021 a0001c0011t0001g0129 a0001c0013t0004g0182 a0001c0016t0012g0019 a0001c0016t0012g0104 a0001c0017t0006g0117 a0001c0020t0010g0013 a0001c0021t0001g0023 a0001c0022t0004g0157 a0001c0026t0001g0015 a0001c0027t0002g0124 a0005c0019t0002g0003	253	418	0.6053	16	c.-21 others(25): Show c.-213_-212insCCTATCGGGGGCGGGG	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		96		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132186856	T T	TCGGGGGC others(9): Show TCGGGGGCGGGGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	418	0.0024	16	c.-20 others(25): Show c.-208_-207insCGGGGGCGGGGCCTGC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		91		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132186857	C C	CGGGGGCG others(9): Show CGGGGGCGGGGCCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	418	0.0024	16	c.-20 others(25): Show c.-207_-206insGGGGGCGGGGCCTATA	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		90		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132186861	G G	GGCGGGGC others(9): Show GGCGGGGCCTATCGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	418	0.0024	16	c.-20 others(25): Show c.-203_-202insGCGGGGCCTATCGGGA	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		86		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132186868	C C	CCTATCGG others(9): Show CCTATCGGGGGCGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	418	0.0024	16	c.-19 others(25): Show c.-196_-195insCTATCGGGGGCGGGGT	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		79		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132186890	T T	TGGGGGCG others(9): Show TGGGGGCGGGGCCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0009 a0001c0006t0011g0009	1	418	0.0024	16	c.-17 others(25): Show c.-174_-173insGGGGGCGGGGCCCAGC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		57		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132205982	G G	GGCCCCCC others(9): Show GGCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0205 a0001c0003t0005g0205	1	418	0.0024	16	c.10 others(27): Show c.1052_*1053insGCCCCCCCCCCCCCCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		224		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26888209	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00642.hp1 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0100 a0001c0002t0002g0133 a0001c0001t0001g0100 a0001c0002t0002g0133	2	232	0.0086	16	c.-4- others(33): Show c.-4-10245_-4-10230dupTTCTTTCTTTCTTTCT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26888255	T T	TTCTTTCT others(9): Show TTCTTTCTTTCTTTCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00738.hp1 others(10): Show HG00099.hp1 HG00140.hp2 HG00738.hp1 HG01433.hp1 HG02559.hp2 HG02647.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03486.hp2 NA18906.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0001t0038 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0002t0014 a0002c0003t0006	a0001c0001t0001g0193 a0001c0001t0003g0013 a0001c0001t0010g0028 others(10): Show a0001c0001t0001g0193 a0001c0001t0003g0013 a0001c0001t0010g0028 a0001c0001t0016g0029 a0001c0001t0038g0008 a0001c0002t0002g0078 a0001c0002t0002g0163 a0001c0002t0006g0084 a0001c0002t0011g0061 a0001c0002t0011g0062 a0001c0002t0011g0063 a0001c0002t0014g0034 a0002c0003t0006g0093	13	232	0.0560	16	c.-4- others(33): Show c.-4-10230_-4-10229insTTCTGTCTTTCTTTCT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26892756	T T	TGAGAGAG others(9): Show TGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG00738.hp2 others(3): Show HG00438.hp2 HG00639.hp2 HG00738.hp2 HG03834.hp1 HG04204.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0001 a0001c0001t0007 a0001c0001t0016	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0200 others(3): Show a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0007g0114 a0001c0001t0016g0228	6	232	0.0259	16	c.-4- others(31): Show c.-4-5717_-4-5702dupGAGAGAGAGAGAGAGA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931169	A A	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0164 a0001c0001t0008g0164	1	232	0.0043	16	c.670 others(31): Show c.670-470_670-469insATGTGTGTGTGTGTGT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931199	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01346.hp2 HG01361.hp1 others(3): Show HG00738.hp1 HG01346.hp2 HG01361.hp1 HG02922.hp2 NA18522.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 others(2): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0002t0027 a0001c0002t0029	a0001c0002t0002g0120 a0001c0002t0006g0130 a0001c0002t0011g0062 others(3): Show a0001c0002t0002g0120 a0001c0002t0006g0130 a0001c0002t0011g0062 a0001c0002t0011g0063 a0001c0002t0027g0083 a0001c0002t0029g0137	6	232	0.0259	16	c.670 others(31): Show c.670-440_670-439insATATATATATATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931201	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03492.hp2 HG03669.hp1 HG03471.hp2 HG03492.hp2 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0011g0060 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0011g0060	3	232	0.0129	16	c.670 others(31): Show c.670-438_670-437insATATATATATATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26932048	G G	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	232	0.0043	16	c.714 others(31): Show c.714+385_714+400dupGAAAGAAAGAAAGAAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26932185	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18975.hp2 HG01433.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0157 a0001c0001t0015g0183 a0001c0001t0001g0157 a0001c0001t0015g0183	2	232	0.0086	16	c.714 others(31): Show c.714+516_714+517insCAGAAAGAAAGAAAGA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26932189	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0029 a0001c0001t0016g0029	1	232	0.0043	16	c.714 others(31): Show c.714+520_714+521insCAGAAAGAAAGAAAGA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26936945	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02630.hp1 NA18952.hp2 others(1): Show HG01515.hp2 HG02630.hp1 NA18952.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 others(1): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0002c0003t0006	a0001c0002t0002g0148 a0001c0002t0004g0229 a0001c0002t0006g0069 others(1): Show a0001c0002t0002g0148 a0001c0002t0004g0229 a0001c0002t0006g0069 a0002c0003t0006g0079	4	232	0.0172	16	c.947 others(33): Show c.947+2212_947+2227dupAAAAAAAAAAAAAAAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26948093	A A	ACACACAC others(9): Show ACACACACACACACACG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG02486.hp2 HG02809.hp2 HG01167.hp1 HG02486.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0037 a0001c0001t0024 a0001c0001t0037	a0001c0001t0024g0036 a0001c0001t0024g0049 a0001c0001t0037g0053 a0001c0001t0024g0036 a0001c0001t0024g0049 a0001c0001t0037g0053	3	232	0.0129	16	c.11 others(27): Show c.1113_*1114insGCACACACACACACAC	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	13/13	1114	INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26948446	G G	GAGGAAAA others(9): Show GAGGAAAAGAGAGAGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0137 a0001c0002t0029g0137	1	232	0.0043	16	c.14 others(27): Show c.1451_*1452insAGGAAAAGAGAGAGAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	13/13	1452		chr2	TogoVar
DPYS_chr8_104374431_104472055	104381852	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp2 HG01517.hp2 others(5): Show HG01123.hp2 HG01168.hp2 HG01517.hp2 HG02074.hp2 HG03139.hp1 HG03195.hp2 HG04115.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0109 a0001c0001t0001g0160 a0001c0001t0002g0257 others(5): Show a0001c0001t0001g0109 a0001c0001t0001g0160 a0001c0001t0002g0257 a0001c0001t0002g0307 a0001c0001t0002g0318 a0001c0001t0002g0321 a0001c0001t0008g0044 a0001c0001t0008g0162	8	380	0.0211	16	c.144 others(33): Show c.1444-554_1444-539dupTGTGTGTGTGTGTGTG	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	8/9			chr8	TogoVar
DR1_chr1_93340907_93374493	93357518	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02040.hp1 HG01516.hp1 HG01517.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0033 a0001c0001t0003 a0001c0001t0033	a0001c0001t0003g0065 a0001c0001t0033g0054 a0001c0001t0033g0055 a0001c0001t0003g0065 a0001c0001t0033g0054 a0001c0001t0033g0055	3	360	0.0083	16	c.385 others(33): Show c.385-2964_385-2949dupATAAATAAATAAATAA	DR1	ENSG00000117505.13	transcript	ENST00000370272.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
DRAM1_chr12_101872580_101928612	101873741	C C	CTAGCTTA others(9): Show CTAGCTTATGTCTAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	396	0.0025	16	c.-40 others(27): Show c.-4049_-4048insTAGCTTATGTCTAGGA	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding		3838		chr12	TogoVar
DRAM1_chr12_101872580_101928612	101920297	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19043.hp2 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0246 a0001c0001t0014g0248 a0001c0001t0014g0246 a0001c0001t0014g0248	2	396	0.0051	16	c.672 others(31): Show c.672+100_672+115dupTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAXIN_chr1_11686710_11730857	11699926	C C	CAATAAAT others(9): Show CAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp2 NA18965.hp1 others(4): Show HG02027.hp1 HG02083.hp2 NA18965.hp1 NA18977.hp1 NA18981.hp2 NA18991.hp1 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0034 a0001c0003t0005 a0003c0004t0002 a0001c0001t0034 a0001c0003t0005 a0003c0004t0002	a0001c0001t0034g0014 a0001c0003t0005g0071 a0003c0004t0002g0072 others(3): Show a0001c0001t0034g0014 a0001c0003t0005g0071 a0003c0004t0002g0072 a0003c0004t0002g0251 a0003c0004t0002g0252 a0003c0004t0002g0334	7	398	0.0176	16	c.-10 others(33): Show c.-10-6312_-10-6297dupTAAATAAATAAATAAA	DRAXIN	ENSG00000162490.7	transcript	ENST00000294485.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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