Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(38): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0194 a0001c0006t0003g0194	1	406	0.0025	45	c.49+ others(60): Show c.49+1988_49+1989insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1280934	C C	CCTCCTCC others(38): Show CCTCCTCCTCCTGCTTCTCCTCCTCCTGCTTCTCCTCCTCCTGCTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0018	1	159	0.0063	45	c.-26 others(62): Show c.-26-1718_-26-1717insGCTTCTCCTCCTCCTGCTTCTCCTCCTC CTGCTTCTCCTCCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1280934	C C	CCTCCTCC others(38): Show CCTCCTCCTCCTTCTCCTCCTCCTCCTGCTTCTCCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0104 a0003c0009t0002g0104	1	159	0.0063	45	c.-26 others(62): Show c.-26-1733_-26-1732insTCTCCTCCTCCTCCTGCTTCTCCTCCTC CTCCTTCTCCTCCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1280976	G G	GCTTCTCC others(38): Show GCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTTCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG01070.hp1 others(45): Show HG00597.hp2 HG00639.hp1 HG01070.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01358.hp1 HG01891.hp1 HG01975.hp2 HG02109.hp2 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02976.hp2 HG03239.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 NA18906.hp2 NA18943.hp1 NA18961.hp1 NA18966.hp2 NA18982.hp1 NA18984.hp2 NA18998.hp1 NA19011.hp2 NA19062.hp1 NA19064.hp1 NA19081.hp2 NA19087.hp2 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0012	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0002c0006 a0002c0019 a0003c0009 a0004c0010 a0008c0016 a0009c0013 a0010c0012 a0012c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0005t0005 a0002c0003t0002 a0002c0003t0005 a0002c0004t0004 a0002c0004t0005 a0002c0006t0002 a0002c0006t0005 a0002c0019t0002 a0003c0009t0002 a0004c0010t0006 a0008c0016t0009 a0009c0013t0003 a0010c0012t0004 a0012c0011t0010	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0047 others(45): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0095 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0079 a0001c0001t0002g0099 a0001c0001t0002g0117 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0124 a0001c0001t0003g0148 a0001c0001t0004g0065 a0001c0001t0012g0062 a0001c0001t0015g0027 a0001c0002t0001g0077 a0001c0002t0002g0112 a0001c0002t0003g0111 a0001c0002t0003g0119 a0001c0002t0003g0122 a0001c0002t0004g0063 a0001c0002t0005g0123 a0001c0005t0005g0009 a0001c0005t0005g0136 a0002c0003t0002g0005 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0140 a0002c0003t0002g0145 a0002c0003t0002g0149 a0002c0003t0005g0010 a0002c0003t0005g0137 a0002c0004t0004g0023 a0002c0004t0005g0125 a0002c0004t0005g0127 a0002c0006t0002g0126 a0002c0006t0005g0028 a0002c0019t0002g0006 a0003c0009t0002g0142 a0004c0010t0006g0033 a0008c0016t0009g0015 a0009c0013t0003g0153 a0010c0012t0004g0089 a0012c0011t0010g0054	48	159	0.3019	45	c.-26 others(62): Show c.-26-1673_-26-1672insTCTTCTCCTCCTCCTCCTTCTCCTCCTC CTCCTTCTCCTCCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1280991	C C	CCTGCTCC others(38): Show CCTGCTCCTTCTCCTCCTCCTCCTCCTTCTCCTCCTCCTCCTCCTG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	159	0.0063	45	c.-26 others(62): Show c.-26-1685_-26-1684insGCTCCTTCTCCTCCTCCTCCTCCTTCTC CTCCTCCTCCTCCTGCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1291935	A A	ACCTGGAC others(38): Show ACCTGGACCCAGTGTAGACAAAGAGGTGTCCCTACTCCACGTCCAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0030 a0002c0003t0002g0030	1	159	0.0063	45	c.646 others(62): Show c.646+1427_646+1428insCTGGACCCAGTGTAGACAAAGAGGTGTC CCTACTCCACGTCCACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1297403	G G	GTAGTGTG others(38): Show GTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG01070.hp2 others(18): Show HG00408.hp2 HG00639.hp2 HG01070.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01496.hp1 HG01993.hp1 HG02056.hp2 HG02155.hp2 HG02886.hp1 HG03490.hp2 HG03491.hp1 HG03710.hp1 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18998.hp1 NA19005.hp1 NA19009.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0018 others(1): Show a0001c0001 a0001c0002 a0001c0018 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0018t0003 a0002c0003t0002	a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0096 others(18): Show a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0069 a0001c0001t0003g0024 a0001c0001t0003g0041 a0001c0001t0003g0118 a0001c0002t0001g0103 a0001c0002t0002g0018 a0001c0002t0003g0035 a0001c0002t0003g0059 a0001c0002t0003g0080 a0001c0002t0003g0111 a0001c0002t0003g0119 a0001c0002t0004g0038 a0001c0002t0004g0098 a0001c0002t0004g0110 a0001c0002t0004g0132 a0001c0002t0006g0039 a0001c0018t0003g0107 a0002c0003t0002g0029	21	159	0.1321	45	c.810 others(62): Show c.810+1949_810+1950insGTGTGACCCTACAATCCCCTACTCACAA CCCCCGGTGGAACCCTA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298525	T T	TCTCCTAC others(38): Show TCTCCTACCCATGACCCCTGGCGGAACCGTACAGTCCCCTACTCAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp2 HG02257.hp2 others(4): Show HG01123.hp1 HG02109.hp2 HG02257.hp2 HG02559.hp2 NA19011.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0004 a0001c0002t0005 a0002c0004t0004 others(2): Show a0001c0002t0004 a0001c0002t0005 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007	a0001c0002t0004g0063 a0001c0002t0005g0123 a0002c0004t0004g0023 others(4): Show a0001c0002t0004g0063 a0001c0002t0005g0123 a0002c0004t0004g0023 a0002c0004t0005g0125 a0002c0004t0005g0127 a0002c0004t0005g0130 a0002c0004t0007g0152	7	159	0.0440	45	c.811 others(62): Show c.811-1966_811-1965insCTCCTACCCATGACCCCTGGCGGAACCG TACAGTCCCCTACTCAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12			chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298671	A A	AGGAGCCG others(38): Show AGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCCGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	159	0.0063	45	c.811 others(62): Show c.811-1820_811-1819insGGAGCCGTAGTGTGACCCTACAATCCCC TACTCACAACCCCCCGT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12			chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298671	A A	AGGAGCCG others(38): Show AGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04184.hp1 HG03453.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0003g0045 a0002c0003t0001g0003 a0001c0001t0003g0045 a0002c0003t0001g0003	2	159	0.0126	45	c.811 others(62): Show c.811-1820_811-1819insGGAGCCGTAGTGTGACCCTACAATCCCC TACTCACAACCCCCGGT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12			chrX	TogoVar
CSMD3_chr8_112217928_113441939	112270349	T T	TGTGTGTG others(38): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAGGGGTGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	80	0.0125	45	c.950 others(64): Show c.9509-4760_9509-4759insTCACCCCTAACACACACACACACACA CACACACACACACACACAC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112369982	A A	AAAGAGGA others(38): Show AAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp1 HG02258.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0002c0028 a0001c0019 a0002c0028	a0001c0019t0005 a0002c0028t0005 a0001c0019t0005 a0002c0028t0005	a0001c0019t0005g0065 a0002c0028t0005g0078 a0001c0019t0005g0065 a0002c0028t0005g0078	2	80	0.0250	45	c.613 others(66): Show c.6136+10369_6136+10370insCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTTCCTCTTCCTCTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542692	A A	ATATATGT others(38): Show ATATATGTATATATATATATATATATATATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19074.hp1 NA18960.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0349 a0001c0001t0002g0361 a0001c0001t0002g0349 a0001c0001t0002g0361	2	390	0.0051	45	c.230 others(62): Show c.230+7382_230+7383insATATATATATATACATATATATATATAT ATATATATATACATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CT45A1_chrX_135708639_135728228	135712982	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA19081.hp2 NA18973.hp2 NA19081.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0030 a0004c0004t0001g0036 a0001c0001t0001g0030 a0004c0004t0001g0036	2	57	0.0351	45	c.-71 others(54): Show c.-715_-714insTTTCTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCC TTCCTTCCT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		656		chrX	TogoVar
CT45A1_chrX_135708639_135728228	135712982	C C	CTTTCTTT others(38): Show CTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG01358.hp1 others(1): Show HG00140.hp1 HG01106.hp1 HG01358.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0029 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0034	4	57	0.0702	45	c.-71 others(54): Show c.-715_-714insTTTCTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		656		chrX	TogoVar
CT45A6_chrX_135789685_135807787	135803898	A A	AAAGAAAG others(38): Show AAAGAAAGAGAGAAAGAAAGAGAGAAGAAAGAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	36	0.0278	45	c.-13 others(56): Show c.-1395_-1394insCTTTCTTTCTTTCTTCTTTCTTCTCTCTTTCTTT CTCTCTTTCTT	CT45A6	ENSG00000278289.5	transcript	ENST00000620654.2	protein_coding		1112		chrX	TogoVar
CTBP1_chr4_1206445_1254130	1207518	T T	TCCATGCG others(38): Show TCCATGCGCCGCGCTTACACATGCTCCAGAGGGTCCGGCTGCCTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	422	0.0024	45	c.47 others(56): Show c.4721_*4722insTTAGGCAGCCGGACCCTCTGGAGCATGTGTAAGC GCGGCGCATGG	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		3926		chr4	TogoVar
CTBP1_chr4_1206445_1254130	1207524	T T	TGCCGCGC others(38): Show TGCCGCGCTTACACATGCTCCAGAGGGTCCGGCTGCCTAACCATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00639.hp1 others(130): Show HG00099.hp1 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01978.hp2 HG01981.hp1 HG02071.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0003t0002 a0001c0003t0020 a0001c0006t0002 a0001c0007t0002 a0001c0008t0002	a0001c0001t0001g0018 a0001c0001t0001g0057 a0001c0001t0001g0130 others(122): Show a0001c0001t0001g0018 a0001c0001t0001g0057 a0001c0001t0001g0130 a0001c0001t0002g0015 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0102 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0148 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0285 a0001c0001t0002g0324 a0001c0001t0002g0331 a0001c0001t0002g0340 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0351 a0001c0001t0003g0160 a0001c0001t0003g0195 a0001c0001t0003g0206 a0001c0001t0003g0214 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0004g0056 a0001c0001t0004g0170 a0001c0001t0004g0186 a0001c0001t0004g0198 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0008g0154 a0001c0001t0011g0039 a0001c0001t0018g0188 a0001c0001t0019g0279 a0001c0003t0002g0061 a0001c0003t0020g0281 a0001c0006t0002g0179 a0001c0006t0002g0258 a0001c0007t0002g0268 a0001c0008t0002g0267	133	422	0.3152	45	c.46 others(56): Show c.4671_*4715dupGCATGGTTAGGCAGCCGGACCCTCTGGAGCATGT GTAAGCGCGGC	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		3920		chr4	TogoVar
CTBP1_chr4_1206445_1254130	1207530	G G	GCTTACAC others(38): Show GCTTACACATGCTCCAGAGGGTCCGGCTGCCTAACCATGCGCCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	422	0.0024	45	c.47 others(56): Show c.4709_*4710insTGCGGCGCATGGTTAGGCAGCCGGACCCTCTGGA GCATGTGTAAG	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		3914		chr4	TogoVar
CTBP1_chr4_1206445_1254130	1207581	A A	ACATGCTC others(38): Show ACATGCTCCAGAGGGTCCGGCTGCCTAACCATGCGCCGCGCTTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG03834.hp2 NA18990.hp1 HG01175.hp1 HG03834.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0001g0197 a0001c0001t0002g0226 a0001c0001t0001g0110 a0001c0001t0001g0197 a0001c0001t0002g0226	3	422	0.0071	45	c.46 others(56): Show c.4658_*4659insCGTAAGCGCGGCGCATGGTTAGGCAGCCGGACCC TCTGGAGCATG	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		3863		chr4	TogoVar
CTBP1_chr4_1206445_1254130	1207626	A A	ACATGCTC others(38): Show ACATGCTCCAGAGGGTCCGGCTGCCTAACCATGCGCCGCGCTTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG03017.hp1 HG03239.hp2 others(3): Show HG02083.hp2 HG03017.hp1 HG03239.hp2 HG03654.hp2 HG03942.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0002 a0001c0001t0001 a0001c0007t0002	a0001c0001t0001g0036 a0001c0001t0001g0234 a0001c0001t0001g0294 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0234 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0007t0002g0332	6	422	0.0142	45	c.46 others(56): Show c.4613_*4614insCGTAAGCGCGGCGCATGGTTAGGCAGCCGGACCC TCTGGAGCATG	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding		3818		chr4	TogoVar
CTC1_chr17_8219815_8253056	8244216	T T	TAAATATA others(38): Show TAAATATATGCAAGATACAACCTCACTTGATTTGTTTCCTGTTGTC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0040 a0003c0004t0040	a0003c0004t0040g0122 a0003c0004t0040g0122	1	402	0.0025	45	c.34- others(60): Show c.34-1113_34-1069dupGACAACAGGAAACAAATCAAGTGAGGTTGT ATCTTGCATATATTT	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	1/22			chr17	TogoVar
CTNNA1_chr5_138748425_138940034	138777903	A A	AGAGGAGG others(38): Show AGAGGAGGGAGAGGGGGAGGAGGGAGAGGGGGAGGAGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp2 HG02895.hp1 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0034 a0001c0002t0005g0050 a0001c0002t0003g0034 a0001c0002t0005g0050	2	180	0.0111	45	c.-2- others(60): Show c.-2-4000_-2-3956dupAGGGAGAGGGGGAGGAGGGAGAGGGGGAGG AGGGAGAGGGGGAGG	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA3_chr10_65907523_67701195	66508210	G G	GTTTTTTT others(38): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	46	0.0217	45	c.153 others(66): Show c.1531+12406_1531+12407insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTU2_chr16_88701503_88720396	88713164	A A	ACCCCTGA others(38): Show ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02155.hp2 HG02630.hp2 others(17): Show HG01109.hp2 HG02155.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp2 HG04184.hp1 NA18941.hp1 NA18971.hp1 NA18987.hp2 NA18988.hp1 NA19088.hp2 NA19240.hp1 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0019 a0003c0039 others(1): Show a0003c0004 a0003c0019 a0003c0039 a0003c0040	a0003c0004t0002 a0003c0004t0003 a0003c0019t0003 others(2): Show a0003c0004t0002 a0003c0004t0003 a0003c0019t0003 a0003c0039t0002 a0003c0040t0003	a0003c0004t0002g0133 a0003c0004t0003g0021 a0003c0004t0003g0040 others(13): Show a0003c0004t0002g0133 a0003c0004t0003g0021 a0003c0004t0003g0040 a0003c0004t0003g0041 a0003c0004t0003g0042 a0003c0004t0003g0049 a0003c0004t0003g0185 a0003c0004t0003g0189 a0003c0004t0003g0191 a0003c0004t0003g0193 a0003c0004t0003g0204 a0003c0004t0003g0205 a0003c0004t0003g0208 a0003c0019t0003g0048 a0003c0039t0002g0134 a0003c0040t0003g0190	20	418	0.0479	45	c.738 others(60): Show c.738-146_738-145insCCTGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATGCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL2_chr10_35003551_35095341	35021858	A A	AGGTGAGG others(38): Show AGGTGAGGTGGGGTGGGGTGAGGTGGGGTGAGGTGGGGTGAGGTGG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18990.hp1 NA18975.hp1 NA18990.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0209 a0001c0003t0005g0210 a0001c0003t0005g0209 a0001c0003t0005g0210	2	300	0.0067	45	c.168 others(64): Show c.1684+3273_1684+3274insCCACCTCACCCCACCTCACCCCACCT CACCCCACCCCACCTCACC	CUL2	ENSG00000108094.17	transcript	ENST00000374749.8	protein_coding	17/20			chr10	TogoVar
CYP2E1_chr10_133522363_133544123	133542753	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	414	0.0024	45	c.37 others(56): Show c.3789_*3790insTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCT TTCTCTTTCTT	CYP2E1	ENSG00000130649.10	transcript	ENST00000252945.8	protein_coding		3631		chr10	TogoVar
CYP4F12_chr19_15668087_15702174	15677340	T T	TTCCTCTC others(38): Show TTCCTCTCCTCACTCACTCATTCCTCTTCCTACTCACTCATTCCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp2 HG03486.hp1 others(1): Show HG02257.hp2 HG02818.hp2 HG03486.hp1 NA19030.hp2	a0005 a0012 a0014 a0005 a0012 a0014	a0005c0007 a0012c0022 a0014c0021 a0005c0007 a0012c0022 a0014c0021	a0005c0007t0004 a0012c0022t0007 a0014c0021t0004 a0005c0007t0004 a0012c0022t0007 a0014c0021t0004	a0005c0007t0004g0210 a0005c0007t0004g0211 a0012c0022t0007g0205 others(1): Show a0005c0007t0004g0210 a0005c0007t0004g0211 a0012c0022t0007g0205 a0014c0021t0004g0206	4	410	0.0098	45	c.199 others(60): Show c.199-916_199-915insTCCTCACTCACTCATTCCTCTTCCTACTCA CTCATTCCTCTCCTC	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYRIB_chr8_129834593_130021560	129930380	T T	TATATATA others(38): Show TATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	288	0.0035	45	c.-13 others(66): Show c.-136-25796_-136-25795insTATATATATATATATATATATATA TATATATATATATATATATAT	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYSLTR1_chrX_78266468_78332611	78269437	A A	ATATATTA others(38): Show ATATATTATATATAATATATATAAATATGGAACATATATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02257.hp1 others(1): Show HG01167.hp1 HG01169.hp1 HG02257.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0037	4	240	0.0167	45	c.32 others(56): Show c.3295_*3296insATATATAATATATGTTCCATATTTATATATATTA TATATAATATA	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2030		chrX	TogoVar
DAB2IP_chr9_121646634_121790530	121668247	C C	CAGTGGCA others(38): Show CAGTGGCACGATCTCCACTCACTGCAACCTCTGCCTCCCGGGTTCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03491.hp2 HG03492.hp1 others(1): Show HG02970.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0133 a0001c0001t0001g0167 a0001c0001t0002g0220 others(1): Show a0001c0001t0001g0133 a0001c0001t0001g0167 a0001c0001t0002g0220 a0001c0002t0001g0058	4	224	0.0179	45	c.125 others(64): Show c.125-10381_125-10337dupGCACGATCTCCACTCACTGCAACCTC TGCCTCCCGGGTTCAAGTG	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
DACH2_chrX_86143451_86837602	86429535	A A	ATTTCTTT others(38): Show ATTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02132.hp1 NA18989.hp1 others(1): Show HG01255.hp1 HG02132.hp1 NA18989.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0075 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0132	4	166	0.0241	45	c.527 others(64): Show c.527+52711_527+52712insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DAO_chr12_108875092_108906043	108903322	G G	GAAGGAAG others(38): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	388	0.0026	45	c.27 others(56): Show c.2787_*2788insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2280		chr12	TogoVar
DAPK2_chr15_63902036_64051485	64046355	C C	CGCGGCGG others(38): Show CGCGGCGGGAGCGGCGGGCGCGGCGGGAGCGGCGGGCGCGGCGGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG03490.hp2 others(1): Show HG01070.hp2 HG01071.hp1 HG03490.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0029 a0001c0001t0030 a0001c0001t0018 a0001c0001t0029 a0001c0001t0030	a0001c0001t0018g0030 a0001c0001t0018g0033 a0001c0001t0029g0031 others(1): Show a0001c0001t0018g0030 a0001c0001t0018g0033 a0001c0001t0029g0031 a0001c0001t0030g0032	4	214	0.0187	45	c.-65 others(52): Show c.-65_-64insTCCCGCCGCGCCCGCCGCTCCCGCCGCGCCCGCCGCTC CCGCCGC	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	1/12	6095		chr15	TogoVar
DAW1_chr2_227866631_227929344	227919224	A A	AGCATGCT others(38): Show AGCATGCTCAGTATAAATAGGTCTATTGGAATTGAAGTACTAAGAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	340	0.0029	45	c.105 others(62): Show c.1050+369_1050+413dupGCATGCTCAGTATAAATAGGTCTATTGG AATTGAAGTACTAAGAT	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCC_chr18_52335197_53540899	53300972	T T	TCTTTCTT others(38): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03831.hp2 HG03098.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0013 a0001c0002 a0002c0013	a0001c0002t0008 a0002c0013t0001 a0001c0002t0008 a0002c0013t0001	a0001c0002t0008g0039 a0002c0013t0001g0068 a0001c0002t0008g0039 a0002c0013t0001g0068	2	114	0.0175	45	c.191 others(64): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTTCC TTTCTTTCTTTCTTTCTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53351386	A A	ATATATAT others(38): Show ATATATATATACACAGTATATATATATACTGTATATATATATACAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0107 a0002c0001t0002g0107	1	114	0.0088	45	c.235 others(66): Show c.2359+11491_2359+11492insCAGTATATATATATACTGTATATA TATATACAGTATATATATACA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	15/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53429054	T T	TATTTTAT others(38): Show TATTTTATATAATATATATTTTATATATAATATATATTTTATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG02280.hp1 others(2): Show HG00280.hp2 HG01106.hp2 HG02280.hp1 HG03017.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0002 a0002c0001t0015 others(1): Show a0001c0002t0002 a0002c0001t0002 a0002c0001t0015 a0002c0001t0018	a0001c0002t0002g0005 a0002c0001t0002g0070 a0002c0001t0015g0064 others(2): Show a0001c0002t0002g0005 a0002c0001t0002g0070 a0002c0001t0015g0064 a0002c0001t0015g0069 a0002c0001t0018g0034	5	114	0.0439	45	c.316 others(64): Show c.3164-6090_3164-6089insATTTTATATAATATATATTTTATATA TAATATATATTTTATATAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	21/28			chr18	TogoVar
DCDC1_chr11_30858603_31374739	30888098	A A	AAGAAAAA others(38): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0132 a0007c0010t0001g0132	1	152	0.0066	45	c.508 others(64): Show c.5082+4719_5082+4720insCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTTCT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	36/38			chr11	TogoVar
DCDC2_chr6_24166755_24363059	24359355	A A	ATATATAT others(38): Show ATATATATATTATATATATTTTATATGTTATATATTATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02809.hp1 others(2): Show HG02486.hp2 HG02615.hp1 HG02809.hp1 NA18962.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0006	a0001c0001t0037 a0002c0002t0013 a0003c0003t0012 others(1): Show a0001c0001t0037 a0002c0002t0013 a0003c0003t0012 a0003c0006t0005	a0001c0001t0037g0162 a0002c0002t0013g0163 a0002c0002t0013g0164 others(2): Show a0001c0001t0037g0162 a0002c0002t0013g0163 a0002c0002t0013g0164 a0003c0003t0012g0165 a0003c0006t0005g0161	5	216	0.0232	45	c.-16 others(56): Show c.-1606_-1605insAAATATATATAATATATAACATATAAAATATATA TAATATATATA	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		1297		chr6	TogoVar
DCLK1_chr13_35763652_36136382	35847623	A A	AAGAAGAA others(38): Show AAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0153 a0001c0004t0003g0153	1	230	0.0044	45	c.103 others(64): Show c.1035+6875_1035+6876insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTCT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	6/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251277	C C	CCACACCC others(38): Show CCACACCCCCACACACCCCCCACACCACACATTCCCTCACACCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0064 a0001c0001t0022g0064	1	116	0.0086	45	c.207 others(64): Show c.2073+1599_2073+1600insCCCACACACCCCCCACACCACACATT CCCTCACACCCCTCACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCP2_chr5_112971798_113027195	112984703	A A	AAATATAT others(38): Show AAATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0210 a0001c0002t0002g0210	1	364	0.0028	45	c.54- others(60): Show c.54-1131_54-1130insATATATATATATATATATATATATATATAT ATATATATATATATA	DCP2	ENSG00000172795.17	transcript	ENST00000389063.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
DDX51_chr12_132131594_132149319	132149257	G G	GCCGCCTC others(38): Show GCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	45	c.-49 others(56): Show c.-4962_-4961insGCCGCACTCACCGAGGGGATTAGGGGTGTGGTAG GAGCGAGGCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4939		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149270	C C	CACCGACA others(38): Show CACCGACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	45	c.-49 others(56): Show c.-4975_-4974insAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTCGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4952		chr12	TogoVar
DDX52_chr17_37604739_37648446	37646715	T T	TTGCTGCT others(38): Show TTGCTGCTTTCCGATCAGAGGAAAGAAGAATTATATTGAGTGTTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	411	0.0024	45	c.-32 others(56): Show c.-3296_-3295insTCAACACTCAATATAATTCTTCTTTCCTCTGATC GGAAAGCAGCA	DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding		3270		chr17	TogoVar
DEAF1_chr11_639233_700222	690251	G G	GAGGGGAG others(38): Show GAGGGGAGAGGAGGGGAGGGGAGGGCAGGAGAGGGGAGGGCAGGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02818.hp2 others(2): Show HG02630.hp1 HG02723.hp1 HG02818.hp2 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0199 a0001c0002t0001g0195 a0001c0002t0001g0196 others(2): Show a0001c0001t0004g0199 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198	5	345	0.0145	45	c.387 others(62): Show c.387+1249_387+1250insGCCCTGCCCTCCCCTCTCCTGCCCTCCC CTCCCCTCCTCTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690266	C C	CAGGAGAG others(38): Show CAGGAGAGGGGAGGGGAGGGCAGGGCAGGGGAGGGCAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp2 others(42): Show HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01074.hp1 HG01123.hp2 HG01255.hp1 HG01261.hp1 HG01981.hp1 HG02015.hp1 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02615.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp1 HG03831.hp2 HG06807.hp1 NA18747.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18982.hp2 NA19003.hp1 NA19005.hp2 NA19056.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 a0001c0001t0001 a0001c0003t0001 a0001c0014t0001	a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0122 others(42): Show a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0001g0143 a0001c0003t0001g0146 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0190 a0001c0003t0001g0194 a0001c0014t0001g0147	45	345	0.1304	45	c.387 others(62): Show c.387+1234_387+1235insCCCCTCCCCTGCCCTCCCCTGCCCTGCC CTCCCCTCCCCTCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEF8_chr16_89943755_89973060	89948944	A A	ACGGGGCC others(38): Show ACGGGGCCGGCGGGGACGGGGCCGGCGGGGACGGGGCCGGCGGGGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	392	0.0026	45	c.-10 others(62): Show c.-108+136_-108+137insCGGCGGGGACGGGGCCGGCGGGGACGGG GCCGGCGGGGTCGGGGC	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948970	G G	GGGGACGG others(38): Show GGGGACGGGGCCGGCGGGGACGGGGCCGGCGGGGTCGGGGCTGGGA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	392	0.0026	45	c.-10 others(62): Show c.-108+181_-108+225dupCCGGCGGGGTCGGGGCTGGGAGGGACGG GGCCGGCGGGGACGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar

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