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
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(7): Show CCTCCACCATCACCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 NA20300.hp1 HG01243.hp2 HG02486.hp2 NA20300.hp1	a0002 a0019 a0045 a0002 a0019 a0045	a0002c0096 a0019c0031 a0045c0038 a0002c0096 a0019c0031 a0045c0038	a0002c0096t0001 a0019c0031t0001 a0045c0038t0001 a0002c0096t0001 a0019c0031t0001 a0045c0038t0001	a0002c0096t0001g0010 a0019c0031t0001g0220 a0045c0038t0001g0026 a0002c0096t0001g0010 a0019c0031t0001g0220 a0045c0038t0001g0026	3	256	0.0117	14	c.323 others(33): Show c.3234+1214_3234+1215insTCCACCATCACCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	403906	A A	ATATACAT others(7): Show ATATACATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0053 a0053	a0053c0139 a0053c0139	a0053c0139t0003 a0053c0139t0003	a0053c0139t0003g0177 a0053c0139t0003g0177	1	256	0.0039	14	c.323 others(33): Show c.3235-1008_3235-1007insCATATATATGTATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK9_chr13_98788429_98983064	98859749	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0153 a0001c0016t0001g0153	1	348	0.0029	14	c.369 others(31): Show c.3697+655_3697+656insTATATATATATATA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	33/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98859751	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0226 a0001c0016t0001g0226	1	348	0.0029	14	c.369 others(31): Show c.3697+653_3697+654insTATATATATATATA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	33/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98887125	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0005	a0002c0008t0005g0008 a0002c0008t0005g0008	1	348	0.0029	14	c.204 others(31): Show c.2044-515_2044-502dupTATATATATATATA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	18/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98951903	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00597.hp2 others(55): Show HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG01074.hp1 HG01099.hp1 HG01516.hp2 HG01517.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02615.hp1 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03710.hp2 HG03927.hp2 NA18943.hp2 NA18945.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18989.hp1 NA18993.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19060.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19076.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0006c0025	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0005t0002 a0001c0007t0002 a0001c0007t0003 a0006c0025t0003	a0001c0001t0002g0200 a0001c0001t0002g0286 a0001c0001t0002g0287 others(54): Show a0001c0001t0002g0200 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0003g0002 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0305 a0001c0001t0003g0307 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0330 a0001c0001t0003g0332 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0006g0308 a0001c0001t0014g0304 a0001c0005t0002g0025 a0001c0005t0002g0026 a0001c0005t0002g0027 a0001c0005t0002g0028 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0005t0002g0031 a0001c0005t0002g0032 a0001c0005t0002g0291 a0001c0007t0002g0284 a0001c0007t0003g0306 a0006c0025t0003g0338	58	348	0.1667	14	c.243 others(31): Show c.243+3531_243+3532insAAAAAAAAAAAAAA	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	2/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98954863	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02083.hp1 HG03490.hp2 others(7): Show HG01361.hp2 HG02083.hp1 HG03490.hp2 HG03492.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18989.hp1 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0010 a0002c0008 others(1): Show a0001c0001 a0001c0010 a0002c0008 a0006c0025	a0001c0001t0003 a0001c0001t0006 a0001c0010t0002 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0010t0002 a0002c0008t0005 a0006c0025t0003	a0001c0001t0003g0294 a0001c0001t0003g0307 a0001c0001t0003g0309 others(7): Show a0001c0001t0003g0294 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0323 a0001c0001t0003g0345 a0001c0001t0006g0308 a0001c0010t0002g0146 a0001c0010t0002g0147 a0002c0008t0005g0008 a0006c0025t0003g0338	10	348	0.0287	14	c.243 others(29): Show c.243+558_243+571dupGTGTGTGTGTGTGT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	2/52			chr13	TogoVar
DOCK9_chr13_98788429_98983064	98975472	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0009 a0001c0003t0007g0009	1	348	0.0029	14	c.126 others(31): Show c.126+2298_126+2311dupGTGTGTGTGTGTGT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	1/52			chr13	TogoVar
DOHH_chr19_3485824_3505674	3489863	A A	AAAAAACA others(7): Show AAAAAACAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00639.hp1 others(90): Show HG00423.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG01109.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18964.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18992.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0003c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0003t0008 a0001c0003t0012 a0002c0005t0008 a0003c0008t0003	a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0038 others(22): Show a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0004g0003 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0006g0018 a0001c0001t0006g0020 a0001c0001t0006g0081 a0001c0001t0009g0021 a0001c0001t0014g0037 a0001c0003t0008g0048 a0001c0003t0008g0062 a0001c0003t0012g0047 a0002c0005t0008g0049 a0003c0008t0003g0043	93	392	0.2372	14	c.16 others(25): Show c.1628_*1629insGTTTTTTTGTTTTT	DOHH	ENSG00000129932.10	transcript	ENST00000427575.6	protein_coding		960		chr19	TogoVar
DOK1_chr2_74549720_74562551	74561117	G G	GGAGGAGG others(7): Show GGAGGAGGAGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	14	c.40 others(25): Show c.4003_*4004insGAGGAGGAGAAGGA	DOK1	ENSG00000115325.14	transcript	ENST00000233668.10	protein_coding		3567		chr2	TogoVar
DOK2_chr8_21903873_21918690	21904371	A A	AACACACA others(7): Show AACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	14	c.49 others(25): Show c.4939_*4940insGTGTGTGTGTGTGT	DOK2	ENSG00000147443.13	transcript	ENST00000276420.9	protein_coding		4501		chr8	TogoVar
DOK3_chr5_177496904_177514826	177497008	G G	GGGGAGGG others(7): Show GGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA18950.hp1 HG03516.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0002 a0001c0001t0004 a0001c0003t0002	a0001c0001t0004g0055 a0001c0003t0002g0029 a0001c0001t0004g0055 a0001c0003t0002g0029	2	436	0.0046	14	c.69 others(25): Show c.6974_*6975insTCCCCTCCCCTCCC	DOK3	ENSG00000146094.16	transcript	ENST00000510898.7	protein_coding		4895		chr5	TogoVar
DOK3_chr5_177496904_177514826	177501557	A A	ATTCTGTG others(7): Show ATTCTGTGTCCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	436	0.0023	14	c.24 others(25): Show c.2425_*2426insATGTGGACACAGAA	DOK3	ENSG00000146094.16	transcript	ENST00000510898.7	protein_coding		346		chr5	TogoVar
DOK4_chr16_57466922_57491493	57471743	G G	GTGGGGGT others(7): Show GTGGGGGTGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	410	0.0024	14	c.16 others(25): Show c.1633_*1634insTCCCCCCACCCCCA	DOK4	ENSG00000125170.11	transcript	ENST00000340099.10	protein_coding		178		chr16	TogoVar
DOK4_chr16_57466922_57491493	57475660	A A	ATCTCTCT others(7): Show ATCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02004.hp1 HG02257.hp2 others(4): Show HG01934.hp1 HG02004.hp1 HG02257.hp2 HG03710.hp1 NA18963.hp1 NA19065.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0002c0002t0002	a0001c0001t0002g0074 a0001c0001t0002g0172 a0001c0001t0002g0209 others(4): Show a0001c0001t0002g0074 a0001c0001t0002g0172 a0001c0001t0002g0209 a0001c0001t0004g0061 a0001c0001t0017g0237 a0002c0002t0002g0156 a0002c0002t0002g0165	7	410	0.0171	14	c.175 others(27): Show c.175-54_175-41dupGAGAGAGAGAGAGA	DOK4	ENSG00000125170.11	transcript	ENST00000340099.10	protein_coding	3/8			chr16	TogoVar
DOK4_chr16_57466922_57491493	57475693	T T	TCTCTCTC others(7): Show TCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG01175.hp1 others(10): Show HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02145.hp2 HG02273.hp1 HG02683.hp2 HG04228.hp2 NA18960.hp2 NA18983.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0142 a0001c0001t0001g0202 a0001c0001t0001g0003 a0001c0001t0001g0142 a0001c0001t0001g0202	13	410	0.0317	14	c.175 others(27): Show c.175-74_175-73insGGAGAGAGAGAGAG	DOK4	ENSG00000125170.11	transcript	ENST00000340099.10	protein_coding	3/8			chr16	TogoVar
DOK5_chr20_54470593_54656169	54488761	A A	ACCCCTTC others(7): Show ACCCCTTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00733.hp2 others(65): Show HG00642.hp1 HG00642.hp2 HG00733.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0001t0032 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0013 a0001c0002t0015 a0001c0002t0029 a0001c0002t0031 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 others(65): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0081 a0001c0001t0001g0106 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0004g0012 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0110 a0001c0001t0004g0114 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0009g0058 a0001c0001t0012g0121 a0001c0001t0012g0122 a0001c0001t0012g0127 a0001c0001t0012g0129 a0001c0001t0013g0075 a0001c0001t0013g0104 a0001c0001t0014g0001 a0001c0001t0014g0088 a0001c0001t0014g0089 a0001c0001t0014g0116 a0001c0001t0016g0063 a0001c0001t0016g0073 a0001c0001t0018g0086 a0001c0001t0018g0087 a0001c0001t0019g0057 a0001c0001t0020g0123 a0001c0001t0020g0124 a0001c0001t0021g0125 a0001c0001t0021g0128 a0001c0001t0022g0066 a0001c0001t0022g0071 a0001c0001t0024g0059 a0001c0001t0030g0105 a0001c0001t0032g0009 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0111 a0001c0002t0001g0118 a0001c0002t0002g0062 a0001c0002t0004g0006 a0001c0002t0007g0120 a0001c0002t0013g0072 a0001c0002t0015g0109 a0001c0002t0015g0126 a0001c0002t0015g0130 a0001c0002t0029g0107 a0001c0002t0031g0074 a0001c0003t0002g0108 a0001c0004t0001g0117 a0001c0005t0002g0080	68	130	0.5231	14	c.66+ others(31): Show c.66+12754_66+12755insTCCCTCCCTCCCCT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54542105	C C	CAGACACA others(7): Show CAGACACACACACAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0015 a0001c0001t0004g0016	2	130	0.0154	14	c.67- others(31): Show c.67-12827_67-12826insGACACACACACAGA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54579358	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01109.hp2 others(29): Show HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01261.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG06807.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0002t0001 a0001c0002t0007 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0026 a0001c0002t0029 a0001c0002t0031 a0001c0003t0002 a0001c0003t0010	a0001c0001t0001g0014 a0001c0001t0001g0098 a0001c0001t0001g0106 others(29): Show a0001c0001t0001g0014 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0055 a0001c0001t0002g0079 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0113 a0001c0001t0007g0085 a0001c0001t0010g0043 a0001c0001t0012g0129 a0001c0001t0016g0073 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0101 a0001c0002t0001g0111 a0001c0002t0001g0118 a0001c0002t0007g0119 a0001c0002t0007g0120 a0001c0002t0013g0072 a0001c0002t0013g0084 a0001c0002t0015g0130 a0001c0002t0016g0083 a0001c0002t0026g0045 a0001c0002t0029g0107 a0001c0002t0031g0074 a0001c0003t0002g0108 a0001c0003t0010g0028 a0001c0003t0010g0042	32	130	0.2462	14	c.175 others(31): Show c.175-9121_175-9108dupGTGTGTGTGTGTGT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54607403	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0060 a0001c0001t0017g0060	1	130	0.0077	14	c.600 others(31): Show c.600-2964_600-2951dupGTGTGTGTGTGTGT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54644711	A A	AAAAAAAA others(7): Show AAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02559.hp1 HG00741.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0007 a0001c0001t0016	a0001c0001t0007g0085 a0001c0001t0016g0073 a0001c0001t0007g0085 a0001c0001t0016g0073	2	130	0.0154	14	c.856 others(31): Show c.856+1142_856+1143insCAAACAAAAAAAAA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54644711	A A	AAAAAACA others(7): Show AAAAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp1 HG02976.hp2 HG01891.hp2 HG02965.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0001c0001t0003 a0001c0001t0004 a0001c0001t0018	a0001c0001t0003g0038 a0001c0001t0004g0012 a0001c0001t0018g0100 a0001c0001t0003g0038 a0001c0001t0004g0012 a0001c0001t0018g0100	3	130	0.0231	14	c.856 others(31): Show c.856+1138_856+1139insCAAACAAACAAAAA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54644711	A A	AACAAACA others(7): Show AACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01069.hp1 others(21): Show HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01891.hp1 HG02735.hp1 HG03831.hp1 NA18952.hp1 NA18952.hp2 NA18989.hp2 NA19058.hp1 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025	a0001c0001t0003g0017 a0001c0001t0003g0033 a0001c0001t0004g0015 others(21): Show a0001c0001t0003g0017 a0001c0001t0003g0033 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0005g0004 a0001c0001t0005g0022 a0001c0001t0005g0026 a0001c0001t0005g0030 a0001c0001t0005g0035 a0001c0001t0005g0054 a0001c0001t0006g0065 a0001c0001t0009g0020 a0001c0001t0009g0023 a0001c0001t0009g0037 a0001c0001t0009g0040 a0001c0001t0009g0058 a0001c0001t0011g0019 a0001c0001t0011g0024 a0001c0001t0011g0041 a0001c0001t0011g0049 a0001c0001t0022g0066 a0001c0001t0022g0071 a0001c0001t0023g0092 a0001c0001t0025g0056	24	130	0.1846	14	c.856 others(31): Show c.856+1134_856+1135insCAAACAAACAAACA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54644722	A A	AAACAAAA others(7): Show AAACAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp2 HG02145.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0106 a0001c0001t0001g0014 a0001c0001t0001g0106	2	130	0.0154	14	c.856 others(31): Show c.856+1151_856+1152insAAAAACCAACAAAA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54644723	A A	AACAAAAA others(7): Show AACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03098.hp1 HG03225.hp2 others(1): Show HG02451.hp2 HG03098.hp1 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0020 a0001c0001t0014 a0001c0001t0020	a0001c0001t0014g0089 a0001c0001t0014g0116 a0001c0001t0020g0123 others(1): Show a0001c0001t0014g0089 a0001c0001t0014g0116 a0001c0001t0020g0123 a0001c0001t0020g0124	4	130	0.0308	14	c.856 others(31): Show c.856+1151_856+1152insAAAAAAACACAAAA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54644723	A A	AACAAAAA others(7): Show AACAAAAAAAAACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG02735.hp2 HG01074.hp2 HG01167.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0023 a0001c0001t0006 a0001c0001t0023	a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0023g0103 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0023g0103	3	130	0.0231	14	c.856 others(31): Show c.856+1151_856+1152insAAAAACACACAAAA	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK5_chr20_54470593_54656169	54646248	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0129 a0001c0001t0012g0129	1	130	0.0077	14	c.856 others(31): Show c.856+2681_856+2694dupTTTTTTTTTTTTTT	DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOK6_chr18_69395888_69854087	69429620	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0066 a0001c0003t0010g0066	1	170	0.0059	14	c.66+ others(31): Show c.66+28341_66+28354dupATATATATATATAT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69485881	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0042 a0001c0001t0036g0042	1	170	0.0059	14	c.67- others(31): Show c.67-78594_67-78581dupGTGTGTGTGTGTGT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69499226	T T	TATATATA others(7): Show TATATATACACATAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0050 a0003c0006t0050	a0003c0006t0050g0135 a0003c0006t0050g0135	1	170	0.0059	14	c.67- others(31): Show c.67-65254_67-65253insCACATACATATATA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69587770	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01175.hp1 others(18): Show HG00738.hp2 HG01081.hp2 HG01175.hp1 HG01192.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp2 HG03654.hp2 HG03688.hp2 HG04199.hp1 HG06807.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0025 a0001c0001t0034 a0001c0001t0040 a0001c0001t0042 a0001c0001t0075 a0001c0001t0088 a0001c0002t0001 a0001c0002t0002 a0001c0002t0099 a0001c0002t0101 a0001c0003t0048 a0001c0003t0073 a0001c0003t0082	a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0071 others(18): Show a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0004g0107 a0001c0001t0004g0137 a0001c0001t0005g0006 a0001c0001t0025g0023 a0001c0001t0034g0116 a0001c0001t0040g0153 a0001c0001t0042g0169 a0001c0001t0075g0011 a0001c0001t0088g0033 a0001c0002t0001g0157 a0001c0002t0002g0046 a0001c0002t0099g0091 a0001c0002t0101g0093 a0001c0003t0048g0029 a0001c0003t0073g0055 a0001c0003t0082g0062	21	170	0.1235	14	c.175 others(33): Show c.175-11603_175-11590dupACACACACACACAC	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69768954	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02970.hp1 NA18747.hp1 others(1): Show HG00735.hp2 HG02970.hp1 NA18747.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0092 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0092 a0001c0002t0076	a0001c0001t0001g0060 a0001c0001t0006g0166 a0001c0001t0092g0049 others(1): Show a0001c0001t0001g0060 a0001c0001t0006g0166 a0001c0001t0092g0049 a0001c0002t0076g0041	4	170	0.0235	14	c.856 others(33): Show c.856+11096_856+11109dupGTGTGTGTGTGTGT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69774133	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01891.hp2 NA20129.hp2 others(2): Show HG01358.hp2 HG01891.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0003 a0001c0003t0106 a0001c0002t0003 a0001c0003t0003 a0001c0003t0106	a0001c0002t0003g0122 a0001c0003t0003g0108 a0001c0003t0003g0138 others(2): Show a0001c0002t0003g0122 a0001c0003t0003g0108 a0001c0003t0003g0138 a0001c0003t0003g0165 a0001c0003t0106g0004	5	170	0.0294	14	c.856 others(33): Show c.856+16270_856+16283dupTATATATATATATA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69809565	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0147 a0001c0001t0011g0147	1	170	0.0059	14	c.857 others(33): Show c.857-31661_857-31648dupCACACACACACACA	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOK6_chr18_69395888_69854087	69841963	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0093 a0001c0002t0093	a0001c0002t0093g0009 a0001c0002t0093g0009	1	170	0.0059	14	c.58 others(23): Show c.585_*598dupGTGTGTGTGTGTGT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	8/8	599	INFO_REALIGN_3_PRIME	chr18	TogoVar
DONSON_chr21_33572551_33593684	33580463	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG06807.hp1 HG01928.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0044 a0001c0001t0005g0292 a0001c0001t0004g0044 a0001c0001t0005g0292	2	426	0.0047	14	c.135 others(31): Show c.1350+825_1350+838dupTTTTTTTTTTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	8/9			chr21	TogoVar
DONSON_chr21_33572551_33593684	33583200	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03579.hp1 NA19030.hp1 HG02523.hp1 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0088 a0001c0001t0141 a0001c0001t0035 a0001c0001t0088 a0001c0001t0141	a0001c0001t0035g0271 a0001c0001t0088g0161 a0001c0001t0141g0379 a0001c0001t0035g0271 a0001c0001t0088g0161 a0001c0001t0141g0379	3	426	0.0070	14	c.964 others(29): Show c.964+274_964+287dupTTTTTTTTTTTTTT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	5/9			chr21	TogoVar
DOP1A_chr6_83062671_83173471	83099723	T T	TATACACA others(7): Show TATACACACGTATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp1 HG02572.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0033 a0001c0001t0001g0034	2	298	0.0067	14	c.139 others(29): Show c.139-979_139-978insCACACGTATACATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1B_chr21_36151824_36299274	36201345	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0175 a0001c0003t0001g0175	1	292	0.0034	14	c.491 others(29): Show c.491+851_491+864dupTTTTTTTTTTTTTT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOP1B_chr21_36151824_36299274	36242150	G G	GATTATTG others(7): Show GATTATTGTTATTAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0164 a0001c0028t0001g0164	1	292	0.0034	14	c.306 others(33): Show c.3067+2195_3067+2196insATTATTGTTATTAT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	18/36			chr21	TogoVar
DOT1L_chr19_2158933_2237578	2174958	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0019 a0009c0018t0019	a0009c0018t0019g0139 a0009c0018t0019g0139	1	378	0.0027	14	c.82- others(29): Show c.82-5731_82-5718dupGTGTGTGTGTGTGT	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2194661	A A	ATGTTGGC others(7): Show ATGTTGGCACATGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(167): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02976.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0008 a0012 a0014 a0015 a0016 a0018	a0001c0001 a0001c0006 a0001c0010 others(17): Show a0001c0001 a0001c0006 a0001c0010 a0002c0003 a0002c0004 a0002c0007 a0002c0020 a0002c0032 a0002c0033 a0003c0002 a0003c0019 a0003c0024 a0004c0005 a0006c0009 a0008c0016 a0012c0028 a0014c0034 a0015c0015 a0016c0023 a0018c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0006t0001 a0001c0010t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0009 a0002c0003t0017 a0002c0003t0026 a0002c0003t0028 a0002c0003t0030 a0002c0004t0003 a0002c0004t0004 a0002c0004t0007 a0002c0004t0015 a0002c0004t0036 a0002c0007t0004 a0002c0020t0021 a0002c0032t0003 a0002c0033t0003 a0003c0002t0001 a0003c0002t0023 a0003c0002t0025 a0003c0002t0035 a0003c0002t0037 a0003c0002t0038 a0003c0002t0039 a0003c0019t0001 a0003c0024t0001 a0004c0005t0001 a0006c0009t0001 a0008c0016t0003 a0012c0028t0003 a0014c0034t0022 a0015c0015t0003 a0016c0023t0001 a0018c0030t0004	a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0050 others(164): Show a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0002g0270 a0001c0001t0002g0330 a0001c0001t0004g0144 a0001c0001t0014g0023 a0001c0001t0014g0024 a0001c0006t0001g0048 a0001c0006t0001g0053 a0001c0010t0003g0325 a0001c0010t0003g0338 a0002c0003t0001g0090 a0002c0003t0001g0332 a0002c0003t0001g0348 a0002c0003t0003g0006 a0002c0003t0003g0007 a0002c0003t0003g0317 a0002c0003t0003g0318 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0326 a0002c0003t0003g0327 a0002c0003t0003g0328 a0002c0003t0003g0329 a0002c0003t0003g0333 a0002c0003t0003g0334 a0002c0003t0003g0337 a0002c0003t0003g0340 a0002c0003t0003g0341 a0002c0003t0003g0342 a0002c0003t0003g0343 a0002c0003t0003g0344 a0002c0003t0003g0345 a0002c0003t0003g0346 a0002c0003t0003g0347 a0002c0003t0003g0349 a0002c0003t0003g0351 a0002c0003t0003g0352 a0002c0003t0003g0355 a0002c0003t0003g0360 a0002c0003t0003g0361 a0002c0003t0003g0362 a0002c0003t0003g0363 a0002c0003t0003g0369 a0002c0003t0009g0356 a0002c0003t0009g0357 a0002c0003t0009g0358 a0002c0003t0017g0359 a0002c0003t0026g0364 a0002c0003t0028g0350 a0002c0003t0030g0354 a0002c0004t0003g0087 a0002c0004t0004g0001 a0002c0004t0004g0101 a0002c0004t0004g0102 a0002c0004t0004g0104 a0002c0004t0004g0105 a0002c0004t0004g0106 a0002c0004t0004g0110 a0002c0004t0004g0113 a0002c0004t0004g0114 a0002c0004t0004g0116 a0002c0004t0004g0117 a0002c0004t0004g0119 a0002c0004t0004g0120 a0002c0004t0004g0124 a0002c0004t0004g0353 a0002c0004t0007g0115 a0002c0004t0007g0121 a0002c0004t0007g0123 a0002c0004t0015g0315 a0002c0004t0036g0108 a0002c0007t0004g0107 a0002c0007t0004g0111 a0002c0007t0004g0112 a0002c0007t0004g0118 a0002c0020t0021g0122 a0002c0032t0003g0093 a0002c0033t0003g0339 a0003c0002t0001g0008 a0003c0002t0001g0009 a0003c0002t0001g0010 a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0013 a0003c0002t0001g0014 a0003c0002t0001g0015 a0003c0002t0001g0016 a0003c0002t0001g0018 a0003c0002t0001g0019 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0025 a0003c0002t0001g0032 a0003c0002t0001g0033 a0003c0002t0001g0035 a0003c0002t0001g0036 a0003c0002t0001g0037 a0003c0002t0001g0038 a0003c0002t0001g0043 a0003c0002t0001g0045 a0003c0002t0001g0049 a0003c0002t0001g0051 a0003c0002t0001g0052 a0003c0002t0001g0055 a0003c0002t0001g0056 a0003c0002t0001g0057 a0003c0002t0001g0058 a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0062 a0003c0002t0001g0063 a0003c0002t0001g0064 a0003c0002t0001g0065 a0003c0002t0001g0066 a0003c0002t0001g0069 a0003c0002t0001g0070 a0003c0002t0001g0071 a0003c0002t0001g0072 a0003c0002t0001g0073 a0003c0002t0001g0075 a0003c0002t0001g0077 a0003c0002t0001g0078 a0003c0002t0001g0079 a0003c0002t0001g0080 a0003c0002t0001g0082 a0003c0002t0001g0083 a0003c0002t0001g0084 a0003c0002t0001g0085 a0003c0002t0001g0086 a0003c0002t0001g0135 a0003c0002t0001g0174 a0003c0002t0001g0181 a0003c0002t0001g0324 a0003c0002t0023g0054 a0003c0002t0025g0026 a0003c0002t0035g0067 a0003c0002t0037g0076 a0003c0002t0038g0039 a0003c0002t0039g0166 a0003c0019t0001g0020 a0003c0024t0001g0059 a0004c0005t0001g0030 a0004c0005t0001g0031 a0004c0005t0001g0034 a0004c0005t0001g0040 a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0046 a0004c0005t0001g0370 a0006c0009t0001g0027 a0006c0009t0001g0028 a0006c0009t0001g0029 a0008c0016t0003g0323 a0012c0028t0003g0322 a0014c0034t0022g0233 a0015c0015t0003g0331 a0016c0023t0001g0017 a0018c0030t0004g0103	170	378	0.4497	14	c.651 others(28): Show c.651+98_651+111dupCTGTTGGCACATGG	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2220044	C C	CAGCTGGG others(7): Show CAGCTGGGTTCTGGG	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0274 a0003c0002t0001g0274	1	378	0.0027	14	c.269 others(29): Show c.2692-63_2692-50dupAGCTGGGTTCTGGG	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPCD_chr10_101583321_101614662	101593009	T T	TCAAAAAA others(7): Show TCAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01261.hp1 others(18): Show HG00280.hp2 HG00323.hp2 HG01261.hp1 HG02040.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp1 NA19030.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0042 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0002c0002t0001g0141	21	342	0.0614	14	c.65- others(29): Show c.65-1637_65-1636insACCAAAAAAAAAAA	DPCD	ENSG00000166171.13	transcript	ENST00000370151.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPCD_chr10_101583321_101614662	101593010	C C	CAAAAAAA others(7): Show CAAAAAAAAAAACCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0143 a0002c0003t0001g0143	1	342	0.0029	14	c.65- others(29): Show c.65-1635_65-1634insAAAAAAAAAAAACC	DPCD	ENSG00000166171.13	transcript	ENST00000370151.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPEP1_chr16_89608642_89643433	89630590	C C	CTGGGGCT others(7): Show CTGGGGCTGGGGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp2 others(30): Show HG00099.hp1 HG00280.hp1 HG00423.hp2 HG00642.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG02257.hp1 HG02486.hp1 HG02630.hp1 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02897.hp2 HG03130.hp1 HG03225.hp1 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18971.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(30): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0129 a0001c0001t0001g0150 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0006t0001g0006	33	250	0.1320	14	c.104 others(27): Show c.104+76_104+77insTGGGGCTGGGGGAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89630664	C C	CCGGGGCT others(7): Show CCGGGGCTGGGGGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02818.hp2 others(3): Show HG02109.hp1 HG02109.hp2 HG02818.hp2 HG02976.hp2 NA19240.hp2 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0004 a0003c0003 a0003c0004	a0003c0003t0002 a0003c0004t0002 a0003c0003t0002 a0003c0004t0002	a0003c0003t0002g0083 a0003c0003t0002g0127 a0003c0003t0002g0128 others(3): Show a0003c0003t0002g0083 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0004t0002g0049 a0003c0004t0002g0050 a0003c0004t0002g0235	6	250	0.0240	14	c.104 others(29): Show c.104+155_104+156insCTGGGGGAGCGGGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634545	C C	CCCTTCCT others(7): Show CCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	250	0.0040	14	c.105 others(31): Show c.105-1361_105-1360insTTCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634604	C C	CCCTTTCC others(7): Show CCCTTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	250	0.0040	14	c.105 others(31): Show c.105-1304_105-1303insCCTTTCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634611	C C	CCCTTCCT others(7): Show CCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18975.hp2 NA19064.hp1 others(1): Show HG02071.hp2 NA18975.hp2 NA19064.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0123 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0123 a0002c0002t0001g0028	4	250	0.0160	14	c.105 others(31): Show c.105-1295_105-1294insTTCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

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