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
DIAPH2_chrX_96679842_97609997	96962390	TACACATA others(7): Show TACACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	147	0.0068	-14	c.193 others(33): Show c.1936-2699_1936-2686delCATATATATACACA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	16/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97063266	TTGAGAGA others(7): Show TTGAGAGACTCAGTA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01081.hp2 others(30): Show HG00642.hp1 HG00738.hp1 HG01081.hp2 HG01256.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02129.hp1 HG02135.hp1 HG02572.hp1 HG02698.hp1 HG03209.hp1 HG03654.hp1 HG03688.hp1 HG04115.hp1 HG04228.hp1 NA18747.hp1 NA18943.hp1 NA18952.hp1 NA18962.hp1 NA18967.hp1 NA18977.hp1 NA18984.hp1 NA18990.hp1 NA19009.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19082.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0006 a0001c0001 a0001c0007 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 a0001c0007t0005 a0002c0006t0001	a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0073 others(30): Show a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0002g0045 a0001c0001t0002g0064 a0001c0001t0002g0080 a0001c0001t0002g0103 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0004g0108 a0001c0001t0006g0056 a0001c0001t0016g0125 a0001c0001t0018g0083 a0001c0007t0005g0131 a0002c0006t0001g0130	33	147	0.2245	-14	c.205 others(33): Show c.2051-9674_2051-9661delTGAGAGACTCAGTA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	17/26			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97090298	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02922.hp1 HG02738.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0003g0107 a0001c0001t0001g0020 a0001c0001t0003g0107	2	147	0.0136	-14	c.224 others(33): Show c.2248-9373_2248-9360delTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	19/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97137270	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	147	0.0068	-14	c.259 others(33): Show c.2590-4376_2590-4363delATATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97157320	AATAATAA others(7): Show AATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03490.hp1 HG01358.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0002g0046 a0001c0001t0001g0019 a0001c0001t0002g0046	2	147	0.0136	-14	c.271 others(35): Show c.2719+15542_2719+15555delTAATAATAATAATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185472	CACATATA others(7): Show CACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	147	0.0068	-14	c.271 others(35): Show c.2719+43680_2719+43693delCATATATATATATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185474	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	147	0.0068	-14	c.271 others(35): Show c.2719+43713_2719+43726delATATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97257957	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(41): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00642.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG03017.hp1 HG03490.hp1 HG03654.hp1 HG03710.hp1 HG04199.hp1 NA18940.hp1 NA18945.hp1 NA18948.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18994.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19070.hp1 NA19091.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0005t0001 a0001c0007t0005	a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0035 others(41): Show a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0007g0049 a0001c0001t0009g0036 a0001c0001t0009g0099 a0001c0001t0014g0012 a0001c0001t0019g0102 a0001c0005t0001g0061 a0001c0007t0005g0131	44	147	0.2993	-14	c.284 others(35): Show c.2844+10128_2844+10141delAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97274006	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0143 a0001c0001t0012g0143	1	147	0.0068	-14	c.284 others(35): Show c.2844+26202_2844+26215delGTGTGTGTGTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97293243	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0146 a0001c0001t0020g0146	1	147	0.0068	-14	c.284 others(35): Show c.2844+45417_2844+45430delTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97297076	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03579.hp1 HG02922.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0107 a0001c0001t0013g0141 a0001c0001t0003g0107 a0001c0001t0013g0141	2	147	0.0136	-14	c.284 others(35): Show c.2844+49259_2844+49272delTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97300931	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03579.hp1 HG02922.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0107 a0001c0001t0013g0141 a0001c0001t0003g0107 a0001c0001t0013g0141	2	147	0.0136	-14	c.284 others(35): Show c.2845-47164_2845-47151delAAAAAAAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97300952	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	147	0.0068	-14	c.284 others(35): Show c.2845-47161_2845-47148delAAAAAAAAAAAGAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97339192	CTTCCCTA others(7): Show CTTCCCTAGATGAGA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	147	0.0068	-14	c.284 others(33): Show c.2845-8913_2845-8900delGAGATTCCCTAGAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	23/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97500763	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03579.hp1 HG02280.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0068 a0001c0001t0013g0141 a0001c0001t0001g0068 a0001c0001t0013g0141	2	147	0.0136	-14	c.324 others(35): Show c.3241+71045_3241+71058delATATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97570075	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0140 a0001c0004t0001g0140	1	147	0.0068	-14	c.324 others(35): Show c.3242-29143_3242-29130delATATATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	26/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59799375	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01070.hp1 others(36): Show HG00544.hp2 HG00609.hp2 HG01070.hp1 HG01071.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp2 HG02896.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03471.hp2 HG03654.hp2 HG03834.hp1 HG03942.hp1 NA18942.hp2 NA18960.hp2 NA18985.hp1 NA18990.hp2 NA19064.hp1 NA19078.hp2 NA19079.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0001c0014 others(3): Show a0001c0001 a0001c0013 a0001c0014 a0002c0004 a0002c0009 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0013t0001 a0001c0014t0001 a0002c0004t0001 a0002c0004t0002 a0002c0009t0001 a0003c0008t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(36): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0002g0123 a0001c0001t0002g0164 a0001c0001t0007g0131 a0001c0001t0007g0133 a0001c0001t0007g0134 a0001c0001t0007g0198 a0001c0001t0008g0002 a0001c0001t0009g0092 a0001c0013t0001g0204 a0001c0014t0001g0144 a0002c0004t0001g0036 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0051 a0002c0004t0001g0057 a0002c0004t0002g0045 a0002c0009t0001g0043 a0003c0008t0001g0194 a0003c0008t0001g0195	39	208	0.1875	-14	c.316 others(35): Show c.3163+11399_3163+11412delTGTGTGTGTGTGTG	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	25/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60098592	CAAATTGA others(7): Show CAAATTGAACAGAAT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	208	0.0048	-14	c.391 others(31): Show c.391-4874_391-4861delATTCTGTTCAATTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	3/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156935	ATATATTT others(7): Show ATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	208	0.0048	-14	c.180 others(31): Show c.180+6638_180+6651delAAAAAAAAAATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DICER1_chr14_95081228_95162529	95099731	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01515.hp2 others(9): Show HG00099.hp1 HG00639.hp1 HG01515.hp2 HG02004.hp1 HG02257.hp2 NA18943.hp1 NA18946.hp1 NA18982.hp2 NA18987.hp2 NA18995.hp2 NA19056.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0034 a0001c0001t0006 a0001c0001t0034	a0001c0001t0006g0007 a0001c0001t0006g0014 a0001c0001t0006g0047 others(6): Show a0001c0001t0006g0007 a0001c0001t0006g0014 a0001c0001t0006g0047 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0034g0054	12	306	0.0392	-14	c.420 others(29): Show c.4206+35_4206+48delGTGTGTGTGTGTGT	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	22/26			chr14	TogoVar
DIDO1_chr20_62872743_62931505	62885162	TTCTGTAA others(7): Show TTCTGTAAGCCGGGC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0224 a0003c0003t0001g0224	1	320	0.0031	-14	c.354 others(33): Show c.3542-2762_3542-2749delGCCCGGCTTACAGA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	15/15			chr20	TogoVar
DIMT1_chr5_62382254_62408905	62401495	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00597.hp1 others(32): Show HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG02055.hp1 HG02132.hp1 HG02135.hp2 HG02523.hp1 HG02647.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03453.hp2 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp2 NA18966.hp2 NA18972.hp1 NA18986.hp2 NA18995.hp2 NA18999.hp2 NA19030.hp2 NA19064.hp1 NA19068.hp2 NA19091.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009	a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0002g0122 others(12): Show a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0004g0005 a0001c0001t0004g0013 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0121 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0131 a0001c0001t0009g0124	35	404	0.0866	-14	c.240 others(29): Show c.240+527_240+540delTTTTTTTTTTTTTT	DIMT1	ENSG00000086189.11	transcript	ENST00000199320.9	protein_coding	3/11			chr5	TogoVar
DIP2A_chr21_46453891_46575015	46486082	AAAAAAAA others(7): Show AAAAAAAAAAGAACT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01515.hp2 HG02630.hp1 others(10): Show HG01433.hp1 HG01515.hp2 HG02630.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03453.hp1 HG03710.hp1 HG04199.hp2 NA18906.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0010 a0001c0027 a0001c0005 a0001c0010 a0001c0027	a0001c0005t0004 a0001c0005t0021 a0001c0010t0002 others(1): Show a0001c0005t0004 a0001c0005t0021 a0001c0010t0002 a0001c0027t0004	a0001c0005t0004g0275 a0001c0005t0004g0276 a0001c0005t0004g0277 others(10): Show a0001c0005t0004g0275 a0001c0005t0004g0276 a0001c0005t0004g0277 a0001c0005t0004g0278 a0001c0005t0004g0280 a0001c0005t0004g0283 a0001c0005t0004g0284 a0001c0005t0004g0287 a0001c0005t0021g0285 a0001c0005t0021g0286 a0001c0010t0002g0279 a0001c0027t0004g0067 a0001c0027t0004g0274	13	374	0.0348	-14	c.163 others(31): Show c.163+1258_163+1271delAAAAAAGAACTAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495229	CTTCTCTT others(7): Show CTTCTCTTCTCTTCT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0180 a0001c0006t0001g0180	1	374	0.0027	-14	c.284 others(31): Show c.284-1752_284-1739delTCTCTTCTTTCTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495244	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	374	0.0027	-14	c.284 others(31): Show c.284-1722_284-1709delCTCTCTCTCTCTCT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46507692	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0203 a0001c0004t0002g0203	1	374	0.0027	-14	c.785 others(31): Show c.785-1552_785-1539delTTTTTTTTTTTTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	6/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46524872	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00597.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18986.hp2 NA18987.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0003 a0001c0004 others(20): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0013 a0001c0015 a0001c0022 a0001c0023 a0001c0026 a0001c0030 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0045 a0003c0017 a0003c0018 a0003c0025 a0008c0044	a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 others(32): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0019 a0001c0003t0024 a0001c0004t0002 a0001c0005t0003 a0001c0005t0004 a0001c0005t0010 a0001c0005t0018 a0001c0005t0019 a0001c0006t0004 a0001c0006t0007 a0001c0006t0012 a0001c0006t0014 a0001c0007t0005 a0001c0010t0003 a0001c0010t0010 a0001c0012t0012 a0001c0013t0015 a0001c0015t0002 a0001c0022t0001 a0001c0023t0004 a0001c0026t0003 a0001c0026t0010 a0001c0030t0026 a0001c0040t0003 a0001c0041t0003 a0001c0042t0003 a0001c0043t0003 a0001c0045t0003 a0003c0017t0001 a0003c0018t0009 a0003c0025t0001 a0008c0044t0003	a0001c0001t0002g0253 a0001c0003t0001g0333 a0001c0003t0003g0124 others(121): Show a0001c0001t0002g0253 a0001c0003t0001g0333 a0001c0003t0003g0124 a0001c0003t0003g0290 a0001c0003t0003g0293 a0001c0003t0003g0294 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0298 a0001c0003t0003g0300 a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0306 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0311 a0001c0003t0003g0315 a0001c0003t0003g0316 a0001c0003t0003g0323 a0001c0003t0003g0326 a0001c0003t0003g0327 a0001c0003t0003g0328 a0001c0003t0003g0329 a0001c0003t0003g0330 a0001c0003t0003g0331 a0001c0003t0003g0332 a0001c0003t0003g0334 a0001c0003t0003g0335 a0001c0003t0003g0336 a0001c0003t0003g0337 a0001c0003t0003g0338 a0001c0003t0003g0340 a0001c0003t0003g0341 a0001c0003t0003g0344 a0001c0003t0003g0346 a0001c0003t0003g0348 a0001c0003t0003g0349 a0001c0003t0003g0350 a0001c0003t0003g0351 a0001c0003t0003g0352 a0001c0003t0003g0353 a0001c0003t0003g0354 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0359 a0001c0003t0003g0360 a0001c0003t0003g0361 a0001c0003t0003g0362 a0001c0003t0003g0363 a0001c0003t0003g0364 a0001c0003t0003g0371 a0001c0003t0003g0372 a0001c0003t0019g0301 a0001c0003t0024g0307 a0001c0004t0002g0244 a0001c0005t0003g0291 a0001c0005t0003g0313 a0001c0005t0003g0319 a0001c0005t0003g0322 a0001c0005t0003g0343 a0001c0005t0003g0345 a0001c0005t0004g0284 a0001c0005t0010g0295 a0001c0005t0010g0312 a0001c0005t0018g0314 a0001c0005t0018g0342 a0001c0005t0019g0320 a0001c0006t0004g0145 a0001c0006t0004g0170 a0001c0006t0007g0134 a0001c0006t0007g0135 a0001c0006t0007g0142 a0001c0006t0007g0143 a0001c0006t0007g0171 a0001c0006t0007g0173 a0001c0006t0007g0177 a0001c0006t0012g0152 a0001c0006t0014g0174 a0001c0006t0014g0175 a0001c0007t0005g0126 a0001c0007t0005g0128 a0001c0007t0005g0132 a0001c0007t0005g0133 a0001c0007t0005g0151 a0001c0007t0005g0153 a0001c0007t0005g0154 a0001c0007t0005g0155 a0001c0007t0005g0156 a0001c0007t0005g0157 a0001c0007t0005g0158 a0001c0007t0005g0159 a0001c0010t0003g0288 a0001c0010t0003g0299 a0001c0010t0003g0317 a0001c0010t0010g0339 a0001c0012t0012g0144 a0001c0012t0012g0146 a0001c0012t0012g0166 a0001c0013t0015g0148 a0001c0013t0015g0167 a0001c0013t0015g0172 a0001c0015t0002g0245 a0001c0022t0001g0160 a0001c0022t0001g0176 a0001c0023t0004g0169 a0001c0026t0003g0347 a0001c0026t0010g0318 a0001c0030t0026g0165 a0001c0040t0003g0358 a0001c0041t0003g0289 a0001c0042t0003g0325 a0001c0043t0003g0373 a0001c0045t0003g0321 a0003c0017t0001g0130 a0003c0017t0001g0131 a0003c0017t0001g0163 a0003c0018t0009g0149 a0003c0018t0009g0161 a0003c0018t0009g0162 a0003c0025t0001g0129 a0003c0025t0001g0164 a0008c0044t0003g0324	124	374	0.3316	-14	c.110 others(33): Show c.1103-4201_1103-4188delTTTTTTTTTTTTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46524892	TTTTTTTT others(7): Show TTTTTTTTTTTTTGA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0208 a0001c0029t0001g0208	1	374	0.0027	-14	c.110 others(33): Show c.1103-4199_1103-4186delTTTTTTTTTTTTGA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	8/37			chr21	TogoVar
DIP2A_chr21_46453891_46575015	46525909	ATTATTAT others(7): Show ATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02602.hp2 HG00639.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0001 a0001c0001t0002 a0001c0008t0001	a0001c0001t0002g0240 a0001c0008t0001g0050 a0001c0001t0002g0240 a0001c0008t0001g0050	2	374	0.0054	-14	c.110 others(33): Show c.1103-3180_1103-3167delATTATTATTATTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46528527	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0179 a0001c0006t0001g0179	1	374	0.0027	-14	c.110 others(31): Show c.1103-537_1103-524delTTTTTTTTTTTTTT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46537811	TGGGACCA others(7): Show TGGGACCAAGCAGGA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	374	0.0027	-14	c.180 others(31): Show c.1801+275_1801+288delGACCAAGCAGGAGG	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	15/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573645	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG03491.hp1 HG03491.hp2 HG01123.hp2 HG03491.hp1 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0001 a0001c0022t0001 a0001c0002t0001 a0001c0022t0001	a0001c0002t0001g0037 a0001c0002t0001g0068 a0001c0022t0001g0176 a0001c0002t0001g0037 a0001c0002t0001g0068 a0001c0022t0001g0176	3	374	0.0080	-14	c.60 others(25): Show c.6024_*6037delAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3631		chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573672	AAAAAAAA others(7): Show AAAAAAAAAAAAGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02109.hp1 others(6): Show HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03540.hp2 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0008 a0001c0005t0017 a0001c0002t0001 a0001c0005t0008 a0001c0005t0017	a0001c0002t0001g0028 a0001c0002t0001g0097 a0001c0005t0008g0002 others(6): Show a0001c0002t0001g0028 a0001c0002t0001g0097 a0001c0005t0008g0002 a0001c0005t0008g0006 a0001c0005t0008g0007 a0001c0005t0008g0009 a0001c0005t0008g0011 a0001c0005t0008g0013 a0001c0005t0017g0008	9	374	0.0241	-14	c.60 others(25): Show c.6051_*6064delAAAAAAAAAAAGAT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3658		chr21	TogoVar
DIP2B_chr12_50499985_50753657	50537114	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0079 a0001c0001t0011g0079	1	284	0.0035	-14	c.100 others(33): Show c.100+31888_100+31901delTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50540053	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	284	0.0035	-14	c.100 others(33): Show c.100+34829_100+34842delTTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50579642	AAAATATA others(7): Show AAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0086 a0001c0001t0012g0086	1	284	0.0035	-14	c.101 others(33): Show c.101-46332_101-46319delAATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50623392	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01168.hp2 HG01255.hp1 others(8): Show HG00597.hp2 HG01168.hp2 HG01255.hp1 HG01433.hp1 HG01496.hp1 HG02055.hp2 HG02083.hp1 HG02683.hp2 HG03041.hp2 HG04204.hp1 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0030 a0001c0002t0003 a0001c0002t0030	a0001c0002t0003g0187 a0001c0002t0003g0221 a0001c0002t0003g0231 others(8): Show a0001c0002t0003g0187 a0001c0002t0003g0221 a0001c0002t0003g0231 a0001c0002t0003g0233 a0001c0002t0003g0240 a0001c0002t0003g0247 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0030g0188	11	284	0.0387	-14	c.101 others(31): Show c.101-2551_101-2538delACACACACACACAC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50623425	ACACACAC others(7): Show ACACACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02258.hp1 HG03710.hp1 HG01257.hp2 HG02258.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0001t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0144 a0001c0002t0003g0228 a0001c0002t0004g0111 a0001c0001t0001g0144 a0001c0002t0003g0228 a0001c0002t0004g0111	3	284	0.0106	-14	c.101 others(31): Show c.101-2549_101-2536delACACACACACACTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50643405	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp2 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0045 a0001c0003t0002g0062 a0001c0003t0002g0045 a0001c0003t0002g0062	2	284	0.0070	-14	c.301 others(31): Show c.301+2587_301+2600delGTGTGTGTGTGTGT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50664830	GTTTTTGT others(7): Show GTTTTTGTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG00673.hp1 others(29): Show HG00544.hp1 HG00642.hp1 HG00673.hp1 HG01261.hp1 HG01358.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02486.hp1 HG02523.hp2 HG03688.hp1 HG03710.hp2 NA18612.hp2 NA18747.hp1 NA18947.hp1 NA18953.hp2 NA18971.hp1 NA18980.hp1 NA18998.hp1 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19060.hp2 NA19064.hp2 NA19070.hp1 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0002 a0001c0003t0033 a0001c0003t0034 others(1): Show a0001c0003t0002 a0001c0003t0033 a0001c0003t0034 a0001c0011t0002	a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0016 others(29): Show a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0019 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0024 a0001c0003t0002g0026 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0040 a0001c0003t0002g0050 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0002g0057 a0001c0003t0002g0063 a0001c0003t0002g0064 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0033g0060 a0001c0003t0034g0048 a0001c0011t0002g0038	32	284	0.1127	-14	c.427 others(31): Show c.427+4517_427+4530delGTTTTTTTTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50682628	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG06807.hp1 HG01891.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0003 a0001c0001t0005g0004	2	284	0.0070	-14	c.120 others(31): Show c.1207-498_1207-485delAAAAAAAAAAAAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50722249	GTTTGTTT others(7): Show GTTTGTTTATTTTAT	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03471.hp1 HG02896.hp2 HG02897.hp2 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0007 a0003c0007t0017 a0001c0001t0007 a0003c0007t0017	a0001c0001t0007g0005 a0003c0007t0017g0093 a0003c0007t0017g0094 a0001c0001t0007g0005 a0003c0007t0017g0093 a0003c0007t0017g0094	3	284	0.0106	-14	c.316 others(31): Show c.3166+857_3166+870delGTTTATTTTATTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	26/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50735456	TTTTTTTG others(7): Show TTTTTTTGTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0196 a0001c0010t0004g0196	1	284	0.0035	-14	c.410 others(31): Show c.4101+340_4101+353delGTTTTTTGTTTTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	34/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	337954	TCGTGTGT others(7): Show TCGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	88	0.0114	-14	c.358 others(33): Show c.3584+3231_3584+3244delCACACACACACACG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	29/36			chr10	TogoVar
DIP2C_chr10_269201_694668	548911	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	88	0.0114	-14	c.86- others(31): Show c.86-62395_86-62382delTTTTTTTTTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	603298	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0087 a0001c0005t0002g0087	1	88	0.0114	-14	c.85+ others(31): Show c.85+86182_85+86195delTTTTTTTTTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	670217	CGCACACG others(7): Show CGCACACGCATGCAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	88	0.0114	-14	c.85+ others(31): Show c.85+19263_85+19276delATGCATGCGTGTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	670261	CATACACG others(7): Show CATACACGCATGCAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18970.hp2 HG03225.hp2 NA18970.hp2	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0001 a0001c0015t0002 a0001c0004t0001 a0001c0015t0002	a0001c0004t0001g0084 a0001c0015t0002g0083 a0001c0004t0001g0084 a0001c0015t0002g0083	2	88	0.0227	-14	c.85+ others(31): Show c.85+19219_85+19232delATGCATGCGTGTAT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92872069	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01081.hp2 HG01168.hp1 others(3): Show HG01069.hp1 HG01081.hp2 HG01168.hp1 HG01884.hp2 HG02622.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0064 others(3): Show a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0111 a0001c0001t0003g0112	6	200	0.0300	-14	c.189 others(31): Show c.189+4213_189+4226delAAAAAAAAAAAAAA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	2/4			chr1	TogoVar
DIPK1A_chr1_92837167_92966462	92962512	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG03041.hp1 others(6): Show HG02258.hp2 HG02280.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG06807.hp1 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0087 others(6): Show a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082	9	200	0.0450	-14	c.-10 others(25): Show c.-1097_-1084delAAAAAAAAAAAAAA	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding		1051		chr1	TogoVar

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