JoGo: Joint Open Genome and Omics Platform

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
DCAF5_chr14_69045881_69158119	69105914	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01515.hp2 HG01517.hp1 others(6): Show HG01361.hp2 HG01515.hp2 HG01517.hp1 HG02129.hp1 HG02622.hp1 NA18956.hp1 NA19083.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0008t0003	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 others(6): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0002g0177 a0001c0001t0003g0025 a0001c0001t0003g0035 a0001c0001t0003g0052 a0001c0001t0003g0087 a0002c0008t0003g0065	9	244	0.0369	20	c.665 others(39): Show c.665+10432_665+10451dupATATATATATATATATATAT	DCAF5	ENSG00000139990.18	transcript	ENST00000341516.10	protein_coding	5/8			chr14	TogoVar
DCAF6_chr1_167931683_168080836	167967714	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	266	0.0038	20	c.252 others(37): Show c.252+1000_252+1019dupTTTTTTTTTTTTTTTTTTTT	DCAF6	ENSG00000143164.16	transcript	ENST00000367840.4	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCAF6_chr1_167931683_168080836	168009389	T T	TCCTTCCT others(13): Show TCCTTCCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	266	0.0038	20	c.137 others(39): Show c.1378+4596_1378+4597insCCTTCCTTTCTTTCTTTCTC	DCAF6	ENSG00000143164.16	transcript	ENST00000367840.4	protein_coding	10/21			chr1	TogoVar
DCAF6_chr1_167931683_168080836	168009389	T T	TCCTTTCT others(13): Show TCCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	266	0.0038	20	c.137 others(39): Show c.1378+4596_1378+4597insCCTTTCTTTCTTTCTTTCTC	DCAF6	ENSG00000143164.16	transcript	ENST00000367840.4	protein_coding	10/21			chr1	TogoVar
DCAF7_chr17_63545477_63599266	63564136	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA19011.hp2 HG00280.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0078 a0001c0001t0031g0090 a0001c0001t0001g0078 a0001c0001t0031g0090	2	262	0.0076	20	c.138 others(39): Show c.138+13329_138+13348dupCACACACACACACACACACA	DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF7_chr17_63545477_63599266	63588189	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02717.hp1 others(2): Show HG02559.hp1 HG02559.hp2 HG02717.hp1 HG02818.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0029 a0001c0001t0005 a0001c0001t0016 a0001c0001t0029	a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 others(2): Show a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0016g0199 a0001c0001t0029g0169	5	262	0.0191	20	c.857 others(35): Show c.857-795_857-794insTTTTTTTTTTTTTTTTTTTT	DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCAF8L2_chrX_27585344_27754942	27590991	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG01106.hp1 others(11): Show HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp1 NA18964.hp1 NA19006.hp1 NA19072.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0005c0005t0001 a0006c0006t0001 a0006c0006t0006	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 others(11): Show a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0002c0002t0002g0211 a0003c0003t0001g0132 a0003c0003t0001g0136 a0003c0003t0001g0215 a0003c0003t0001g0221 a0005c0005t0001g0218 a0005c0005t0001g0219 a0005c0005t0001g0220 a0006c0006t0001g0210 a0006c0006t0001g0214 a0006c0006t0006g0217	14	262	0.0534	20	c.-34 others(37): Show c.-342+556_-342+575dupTATATATATATATATATATA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27590991	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01943.hp1 HG01192.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0256 a0001c0001t0001g0257	2	262	0.0076	20	c.-34 others(37): Show c.-342+552_-342+553insTTATATATATATATATATAT	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27606358	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02723.hp1 HG02886.hp2 others(3): Show HG01978.hp1 HG02723.hp1 HG02886.hp2 HG03225.hp1 HG03453.hp1 NA19000.hp1	a0002 a0004 a0017 others(1): Show a0002 a0004 a0017 a0025	a0002c0002 a0004c0004 a0017c0021 others(1): Show a0002c0002 a0004c0004 a0017c0021 a0025c0020	a0002c0002t0002 a0004c0004t0003 a0017c0021t0003 others(1): Show a0002c0002t0002 a0004c0004t0003 a0017c0021t0003 a0025c0020t0001	a0002c0002t0002g0008 a0002c0002t0002g0041 a0002c0002t0002g0055 others(3): Show a0002c0002t0002g0008 a0002c0002t0002g0041 a0002c0002t0002g0055 a0004c0004t0003g0065 a0017c0021t0003g0068 a0025c0020t0001g0128	6	262	0.0229	20	c.-34 others(41): Show c.-342+15923_-342+15942dupATATATATATATATATATAT	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27615524	A A	AATCTATC others(13): Show AATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02965.hp1 HG03098.hp1 others(1): Show HG02717.hp1 HG02965.hp1 HG03098.hp1 NA19240.hp1	a0008 a0014 a0008 a0014	a0008c0008 a0014c0014 a0008c0008 a0014c0014	a0008c0008t0003 a0014c0014t0003 a0008c0008t0003 a0014c0014t0003	a0008c0008t0003g0060 a0008c0008t0003g0061 a0008c0008t0003g0076 others(1): Show a0008c0008t0003g0060 a0008c0008t0003g0061 a0008c0008t0003g0076 a0014c0014t0003g0069	4	262	0.0153	20	c.-34 others(41): Show c.-341-16345_-341-16326dupTCTATCTATCTATCTATCTA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(13): Show TATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0001 a0016c0015t0001	a0016c0015t0001g0198 a0016c0015t0001g0198	1	262	0.0038	20	c.-14 others(41): Show c.-142-11914_-142-11913insTATATATATACACACACACA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAF8L2_chrX_27585344_27754942	27704173	T T	TATATATA others(13): Show TATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp1 HG02683.hp1 others(9): Show HG00735.hp1 HG01256.hp1 HG02683.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp1 HG03688.hp1 HG04204.hp1 NA18956.hp1 NA18966.hp1 NA18972.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0023	a0001c0001 a0002c0002 a0003c0033 others(1): Show a0001c0001 a0002c0002 a0003c0033 a0023c0024	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0033t0002 a0023c0024t0003	a0001c0001t0002g0029 a0002c0002t0001g0135 a0002c0002t0002g0027 others(9): Show a0001c0001t0002g0029 a0002c0002t0001g0135 a0002c0002t0002g0027 a0002c0002t0002g0106 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0125 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0142 a0003c0033t0002g0103 a0023c0024t0003g0075	12	262	0.0458	20	c.-14 others(41): Show c.-142-11914_-142-11913insTATATATATATACACACACA	DCAF8L2	ENSG00000189186.11	transcript	ENST00000451261.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCAKD_chr17_45018344_45056632	45045216	A A	AGCAGGGG others(13): Show AGCAGGGGAACTGGGGACCTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0322 a0002c0003t0018g0322	1	408	0.0025	20	c.-11 others(39): Show c.-115+6125_-115+6144dupAAGGTCCCCAGTTCCCCTGC	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding	1/4			chr17	TogoVar
DCBLD2_chr3_98790941_98906695	98825643	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03669.hp2 HG04204.hp2 HG00621.hp1 HG03669.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0207 a0001c0001t0001g0241 a0001c0001t0001g0243	3	330	0.0091	20	c.572 others(35): Show c.572-297_572-278dupTATATATATATATATATATA	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98836066	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTATGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01261.hp1 HG01099.hp2 HG01109.hp2 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0068 a0001c0002t0005g0067 a0001c0002t0005g0124 a0001c0002t0002g0068 a0001c0002t0005g0067 a0001c0002t0005g0124	3	330	0.0091	20	c.572 others(39): Show c.572-10701_572-10700insCACATACACACACACACACA	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98839144	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0105 a0001c0002t0015g0105	1	330	0.0030	20	c.571 others(39): Show c.571+10316_571+10317insAGAAAGAAAGAAGGAAGGAA	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98839144	C C	CTTCCTTC others(13): Show CTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18994.hp2 HG02647.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0015 a0001c0002t0010 a0001c0002t0015	a0001c0002t0010g0121 a0001c0002t0015g0106 a0001c0002t0010g0121 a0001c0002t0015g0106	2	330	0.0061	20	c.571 others(39): Show c.571+10316_571+10317insAGAAAGAAAGAAAGAAGGAA	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98839175	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03834.hp2 HG01346.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0205 a0001c0001t0001g0211	2	330	0.0061	20	c.571 others(39): Show c.571+10285_571+10286insGAAGGAAGGAAGGAAGGAAG	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98844034	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG04184.hp2 NA19009.hp1 HG02523.hp2 HG04184.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0011g0272 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0011g0272	3	330	0.0091	20	c.571 others(37): Show c.571+5407_571+5426dupTGTGTGTGTGTGTGTGTGTG	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98870737	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	330	0.0030	20	c.433 others(39): Show c.433+10783_433+10802dupCTTTCTTTCTTTCTTTCTTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98870737	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0155 a0001c0002t0019g0155	1	330	0.0030	20	c.433 others(39): Show c.433+10802_433+10803insCTTTCTCTTTCTTTCTTTCT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCBLD2_chr3_98790941_98906695	98876412	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp2 NA19084.hp1 HG02572.hp1 HG03139.hp2 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0007 a0001c0002t0043 a0003c0006t0007 a0001c0002t0007 a0001c0002t0043 a0003c0006t0007	a0001c0002t0007g0159 a0001c0002t0043g0160 a0003c0006t0007g0164 a0001c0002t0007g0159 a0001c0002t0043g0160 a0003c0006t0007g0164	3	330	0.0091	20	c.433 others(37): Show c.433+5108_433+5127dupTTTTTTTTTTTTTTTTTTTT	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	2/15			chr3	TogoVar
DCC_chr18_52335197_53540899	52387574	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01069.hp2 others(1): Show HG00735.hp2 HG00738.hp2 HG01069.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0001 others(1): Show a0001c0002 a0001c0005 a0002c0001 a0002c0004	a0001c0002t0001 a0001c0005t0007 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0005t0007 a0002c0001t0001 a0002c0004t0003	a0001c0002t0001g0024 a0001c0005t0007g0114 a0002c0001t0001g0067 others(1): Show a0001c0002t0001g0024 a0001c0005t0007g0114 a0002c0001t0001g0067 a0002c0004t0003g0023	4	114	0.0351	20	c.91+ others(37): Show c.91+46737_91+46756dupCTTCCTTCCTTCCTTCCTTC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52427815	T T	TCTTCCTT others(13): Show TCTTCCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0010 a0002c0001t0006g0010	1	114	0.0088	20	c.91+ others(37): Show c.91+86944_91+86945insTCTTCCTTCCTTCCTTCCTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52459456	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0053 a0002c0001t0001g0053	1	114	0.0088	20	c.91+ others(39): Show c.91+118586_91+118605dupCTTTCTTTCTTTCTTTCTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52494264	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19065.hp2 HG00597.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0034 a0002c0001t0002 a0001c0002t0034 a0002c0001t0002	a0001c0002t0034g0091 a0002c0001t0002g0063 a0001c0002t0034g0091 a0002c0001t0002g0063	2	114	0.0175	20	c.91+ others(39): Show c.91+153396_91+153415dupGTGTGTGTGTGTGTGTGTGT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52515606	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0077 a0001c0003t0004g0077	1	114	0.0088	20	c.91+ others(39): Show c.91+174729_91+174748dupAAAAAAAAAAAAAAAAAAAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52541875	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02976.hp2 HG03831.hp1 HG00735.hp2 HG02976.hp2 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0004 a0001c0005t0007 a0001c0005t0011 a0001c0003t0004 a0001c0005t0007 a0001c0005t0011	a0001c0003t0004g0052 a0001c0005t0007g0114 a0001c0005t0011g0045 a0001c0003t0004g0052 a0001c0005t0007g0114 a0001c0005t0011g0045	3	114	0.0263	20	c.91+ others(39): Show c.91+200999_91+201018dupATATATATATATATATATAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52581187	T T	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp2 HG00735.hp2 others(3): Show HG00280.hp2 HG00673.hp2 HG00735.hp2 HG02080.hp2 HG03017.hp2 HG04228.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0003 a0001c0005 a0002c0001 others(2): Show a0001c0003 a0001c0005 a0002c0001 a0004c0009 a0009c0017	a0001c0003t0004 a0001c0005t0007 a0002c0001t0005 others(3): Show a0001c0003t0004 a0001c0005t0007 a0002c0001t0005 a0002c0001t0015 a0004c0009t0002 a0009c0017t0004	a0001c0003t0004g0057 a0001c0005t0007g0114 a0002c0001t0005g0088 others(3): Show a0001c0003t0004g0057 a0001c0005t0007g0114 a0002c0001t0005g0088 a0002c0001t0015g0064 a0004c0009t0002g0016 a0009c0017t0004g0110	6	114	0.0526	20	c.92- others(39): Show c.92-170864_92-170845dupTCTATCTATCTATCTATCTA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52652711	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18966.hp2 HG03098.hp1 NA18966.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0024 a0002c0001 a0003c0024	a0002c0001t0005 a0003c0024t0009 a0002c0001t0005 a0003c0024t0009	a0002c0001t0005g0078 a0003c0024t0009g0002 a0002c0001t0005g0078 a0003c0024t0009g0002	2	114	0.0175	20	c.92- others(37): Show c.92-99333_92-99314dupTGTGTGTGTGTGTGTGTGTG	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52792769	T T	TATTCCAT others(13): Show TATTCCATTCCATTCCATTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG02895.hp2 others(1): Show HG00280.hp1 HG00733.hp1 HG02895.hp2 NA19043.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0007 a0002c0022 a0007c0014 a0001c0007 a0002c0022 a0007c0014	a0001c0007t0003 a0002c0022t0024 a0007c0014t0037 a0001c0007t0003 a0002c0022t0024 a0007c0014t0037	a0001c0007t0003g0035 a0001c0007t0003g0099 a0002c0022t0024g0031 others(1): Show a0001c0007t0003g0035 a0001c0007t0003g0099 a0002c0022t0024g0031 a0007c0014t0037g0030	4	114	0.0351	20	c.412 others(39): Show c.412+40412_412+40431dupTTCCATTCCATTCCATTCCA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52879412	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03017.hp2 HG02717.hp1 HG03017.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0017 a0001c0002 a0009c0017	a0001c0002t0002 a0009c0017t0004 a0001c0002t0002 a0009c0017t0004	a0001c0002t0002g0038 a0009c0017t0004g0110 a0001c0002t0002g0038 a0009c0017t0004g0110	2	114	0.0175	20	c.413 others(39): Show c.413-26622_413-26603dupTTTTTTTTTTTTTTTTTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52929817	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0049 a0001c0002t0009g0049	1	114	0.0088	20	c.985 others(37): Show c.985+4474_985+4493dupACACACACACACACACACAC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53136193	T T	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04199.hp1 NA19057.hp2 HG03017.hp1 HG04199.hp1 NA19057.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0054 a0002c0001t0002g0070 a0002c0001t0002g0089 a0002c0001t0001g0054 a0002c0001t0002g0070 a0002c0001t0002g0089	3	114	0.0263	20	c.126 others(41): Show c.1262-21144_1262-21143insCTATCTATCTATCTATCTAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53148865	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0031 a0005c0021t0031	a0005c0021t0031g0004 a0005c0021t0031g0004	1	114	0.0088	20	c.126 others(39): Show c.1262-8474_1262-8473insTTTTTTTTTTTTTTTTTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53226948	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0024 a0002c0022t0024	a0002c0022t0024g0031 a0002c0022t0024g0031	1	114	0.0088	20	c.191 others(41): Show c.1911+11352_1911+11353insATATATATATATATATTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300958	A A	ATTCTTTC others(13): Show ATTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp1 HG00733.hp2 HG01192.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0079 a0002c0001t0002g0081 a0002c0001t0001g0079 a0002c0001t0002g0081	2	114	0.0175	20	c.191 others(39): Show c.1912-4617_1912-4616insTTTCTTTCTTTCTTTCTTTC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53310991	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0017 a0002c0001t0002g0017	1	114	0.0088	20	c.205 others(39): Show c.2053+5280_2053+5299dupCACACACACACACACACACA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53312919	G G	GGGGAGGG others(13): Show GGGGAGGGGAGGGAAGGGAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0015 a0002c0025t0001g0015	1	114	0.0088	20	c.205 others(39): Show c.2053+7219_2053+7238dupAAGGGAGGGGAGGGAAGGGA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53407528	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0011 a0001c0003t0008g0011	1	114	0.0088	20	c.293 others(39): Show c.2936-2915_2936-2896dupATATATATATATATATATAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53468342	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp2 HG02080.hp1 others(5): Show HG00597.hp2 HG00733.hp2 HG02080.hp1 HG02602.hp2 HG03017.hp1 NA18948.hp2 NA18966.hp1 NA18979.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0009 a0001c0002 a0002c0001 a0004c0009	a0001c0002t0014 a0002c0001t0002 a0002c0001t0029 others(1): Show a0001c0002t0014 a0002c0001t0002 a0002c0001t0029 a0004c0009t0027	a0001c0002t0014g0051 a0002c0001t0002g0019 a0002c0001t0002g0055 others(5): Show a0001c0002t0014g0051 a0002c0001t0002g0019 a0002c0001t0002g0055 a0002c0001t0002g0063 a0002c0001t0002g0070 a0002c0001t0002g0081 a0002c0001t0029g0040 a0004c0009t0027g0084	8	114	0.0702	20	c.373 others(37): Show c.3736+336_3736+355dupATTTATTTATTTATTTATTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53468363	T T	TTTATTTA others(13): Show TTTATTTATTTATTTATTTTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0112 a0001c0002t0033g0112	1	114	0.0088	20	c.373 others(37): Show c.3736+355_3736+356insATTTATTTATTTATTTTATT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC1_chr11_30858603_31374739	30888098	A A	AAGAAAAA others(13): Show AAGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01258.hp2 others(1): Show HG00639.hp1 HG01243.hp2 HG01258.hp2 NA19062.hp2	a0004 a0006 a0004 a0006	a0004c0008 a0004c0009 a0006c0007 a0004c0008 a0004c0009 a0006c0007	a0004c0008t0001 a0004c0009t0001 a0006c0007t0001 a0004c0008t0001 a0004c0009t0001 a0006c0007t0001	a0004c0008t0001g0053 a0004c0009t0001g0006 a0006c0007t0001g0114 others(1): Show a0004c0008t0001g0053 a0004c0009t0001g0006 a0006c0007t0001g0114 a0006c0007t0001g0115	4	152	0.0263	20	c.508 others(39): Show c.5082+4719_5082+4720insCTTTCTTTCTTTCTTTTTCT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	36/38			chr11	TogoVar
DCDC1_chr11_30858603_31374739	30968711	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01891.hp2 others(9): Show HG01168.hp2 HG01169.hp2 HG01891.hp2 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02895.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03453.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0017	a0001c0001 a0001c0006 a0002c0003 others(2): Show a0001c0001 a0001c0006 a0002c0003 a0003c0004 a0017c0027	a0001c0001t0001 a0001c0006t0002 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0006t0002 a0002c0003t0001 a0002c0003t0002 a0003c0004t0002 a0017c0027t0002	a0001c0001t0001g0016 a0001c0006t0002g0119 a0001c0006t0002g0120 others(9): Show a0001c0001t0001g0016 a0001c0006t0002g0119 a0001c0006t0002g0120 a0002c0003t0001g0096 a0002c0003t0001g0106 a0002c0003t0002g0095 a0003c0004t0002g0130 a0003c0004t0002g0135 a0003c0004t0002g0136 a0003c0004t0002g0140 a0003c0004t0002g0151 a0017c0027t0002g0100	12	152	0.0790	20	c.259 others(41): Show c.2592-16163_2592-16144dupTATATATATATATATATATA	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	20/38			chr11	TogoVar
DCDC1_chr11_30858603_31374739	31153785	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01258.hp2 HG01346.hp1 others(15): Show HG00741.hp2 HG01258.hp2 HG01346.hp1 HG02056.hp2 HG02080.hp1 HG02258.hp2 HG02280.hp1 HG02897.hp2 HG03453.hp1 NA18942.hp1 NA18959.hp2 NA18998.hp2 NA19002.hp1 NA19060.hp2 NA19068.hp2 NA19070.hp2 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0018 others(2): Show a0001 a0004 a0018 a0019 a0023	a0001c0001 a0004c0009 a0018c0018 others(2): Show a0001c0001 a0004c0009 a0018c0018 a0019c0019 a0023c0023	a0001c0001t0001 a0001c0001t0002 a0004c0009t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0004c0009t0001 a0018c0018t0007 a0019c0019t0002 a0023c0023t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0030 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0035 a0004c0009t0001g0006 a0004c0009t0001g0046 a0018c0018t0007g0009 a0019c0019t0002g0018 a0023c0023t0001g0036	18	152	0.1184	20	c.122 others(41): Show c.1222-16021_1222-16002dupGTGTGTGTGTGTGTGTGTGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	9/38			chr11	TogoVar
DCDC1_chr11_30858603_31374739	31153801	C C	CACACACA others(13): Show CACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	152	0.0066	20	c.122 others(41): Show c.1222-16018_1222-16017insTTGTGTGTGTGTGTGTGTGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	9/38			chr11	TogoVar
DCDC2C_chr2_3698575_3853008	3701346	C C	CGGTTGTT others(13): Show CGGTTGTTCCTCCCTCACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	1	324	0.0031	20	c.-24 others(31): Show c.-2406_-2405insGGTTGTTCCTCCCTCACATA	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding		2228		chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3715576	T T	TTCCATCC others(13): Show TTCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02630.hp2 HG02896.hp1 others(9): Show HG02056.hp1 HG02630.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03130.hp1 HG03209.hp2 NA18969.hp1 NA19003.hp1 NA19010.hp1 NA19030.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0003 others(1): Show a0001c0002 a0001c0005 a0002c0003 a0002c0004	a0001c0002t0001 a0001c0005t0008 a0002c0003t0001 others(5): Show a0001c0002t0001 a0001c0005t0008 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0016 a0002c0004t0003	a0001c0002t0001g0232 a0001c0005t0008g0171 a0002c0003t0001g0205 others(9): Show a0001c0002t0001g0232 a0001c0005t0008g0171 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0215 a0002c0003t0002g0217 a0002c0003t0003g0208 a0002c0003t0003g0214 a0002c0003t0004g0008 a0002c0003t0016g0011 a0002c0003t0016g0015 a0002c0004t0003g0207	12	324	0.0370	20	c.339 others(37): Show c.339+6986_339+7005dupCCATCCATCCATCCATCCAT	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24220879	A A	AGAGCAAG others(13): Show AGAGCAAGCGAGTGAGCGAGC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0195 a0001c0001t0007g0195	1	216	0.0046	20	c.923 others(39): Show c.923-15778_923-15777insGCTCGCTCACTCGCTTGCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24220879	A A	AGAGCGAG others(13): Show AGAGCGAGAGAGTGAGCGAGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0025 a0002c0002t0014g0025	1	216	0.0046	20	c.923 others(39): Show c.923-15797_923-15778dupGCTCGCTCACTCTCTCGCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar

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