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
CSMD3_chr8_112217928_113441939	112370023	G G	GGAAGAGG others(8): Show GGAAGAGGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG02717.hp1 HG03225.hp2	a0005 a0007 a0005 a0007	a0005c0012 a0007c0009 a0005c0012 a0007c0009	a0005c0012t0001 a0007c0009t0001 a0005c0012t0001 a0007c0009t0001	a0005c0012t0001g0038 a0007c0009t0001g0069 a0005c0012t0001g0038 a0007c0009t0001g0069	2	80	0.0250	15	c.613 others(36): Show c.6136+10328_6136+10329insTTCTTCTTCCTCTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112465974	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0056 a0001c0023t0001g0056	1	80	0.0125	15	c.539 others(34): Show c.5395+6602_5395+6616dupTTTTTTTTTTTTTTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112747183	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	80	0.0125	15	c.197 others(36): Show c.1972+52964_1972+52978dupAAAAAAAAAAAAAAA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112747962	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0055 a0001c0006t0003g0055	1	80	0.0125	15	c.197 others(36): Show c.1972+52185_1972+52199dupTTTTTTTTTTTTTTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113153101	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0079 a0002c0032t0001g0079	1	80	0.0125	15	c.709 others(34): Show c.709+20620_709+20621insCTTTCTTTCTTTCTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113296291	T T	TATAATAA others(8): Show TATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0027 a0002c0005t0001g0027	1	80	0.0125	15	c.402 others(34): Show c.402-17602_402-17588dupTATTATTATTATTAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	2/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149530965	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	390	0.0026	15	c.231 others(32): Show c.231-5795_231-5794insTTTTTTTTTTTTTTT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1D_chr17_82237667_82278700	82252760	T T	TGCCCAGA others(8): Show TGCCCAGATCACTCTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	320	0.0031	15	c.566 others(30): Show c.566-171_566-157dupGAGAGTGATCTGGGC	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	4/8			chr17	TogoVar
CSNK1D_chr17_82237667_82278700	82260495	C C	CTGATGGT others(8): Show CTGATGGTGTACTGAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0239 a0001c0001t0009g0239	1	320	0.0031	15	c.188 others(32): Show c.188-4919_188-4918insCTCAGTACACCATCA	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	2/8			chr17	TogoVar
CSNK1G1_chr15_64160525_64361173	64203694	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0175 a0001c0001t0005g0175	1	176	0.0057	15	c.100 others(32): Show c.1000-520_1000-506dupTTTTTTTTTTTTTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	9/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64229902	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 homoSapiens_chm13v2.hp1 HG04184.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0036 a0001c0001t0006g0163 a0001c0001t0001g0036 a0001c0001t0006g0163	2	176	0.0114	15	c.293 others(34): Show c.293-13204_293-13190dupAAAAAAAAAAAAAAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1939438	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG03098.hp1 others(3): Show HG02055.hp2 HG02258.hp2 HG03098.hp1 HG03195.hp2 NA18522.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0002c0003t0003 a0001c0001t0001 a0001c0001t0005 a0002c0003t0003	a0001c0001t0001g0016 a0001c0001t0005g0020 a0001c0001t0005g0254 others(3): Show a0001c0001t0001g0016 a0001c0001t0005g0020 a0001c0001t0005g0254 a0001c0001t0005g0255 a0002c0003t0003g0017 a0002c0003t0003g0018	6	382	0.0157	15	c.-22 others(26): Show c.-2246_-2245insTTTTTTTTTTTTTTT	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding		1733		chr19	TogoVar
CSNK2A1_chr20_467498_548790	485107	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00438.hp2 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0179 a0001c0001t0005g0259 a0001c0001t0003g0179 a0001c0001t0005g0259	2	316	0.0063	15	c.106 others(34): Show c.1061-1032_1061-1031insATATATATATATATA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02630.hp1 HG00621.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0131 a0001c0001t0053g0258 a0001c0001t0001g0131 a0001c0001t0053g0258	2	316	0.0063	15	c.106 others(34): Show c.1061-1034_1061-1033insATATATATATATATA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	523858	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0308 a0001c0001t0036g0308	1	316	0.0032	15	c.-11 others(34): Show c.-110+4060_-110+4074dupTTTTTTTTTTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18939.hp2 NA19003.hp2 others(1): Show HG02486.hp1 NA18939.hp2 NA19003.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0323 others(1): Show a0001c0001t0002g0316 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0325	4	400	0.0100	15	c.429 others(32): Show c.429+2471_429+2472insATATATATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171980	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02055.hp2 HG02965.hp2 HG00423.hp2 HG02055.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0237 a0001c0001t0002g0306 a0001c0001t0002g0324 a0001c0001t0001g0237 a0001c0001t0002g0306 a0001c0001t0002g0324	3	400	0.0075	15	c.429 others(32): Show c.429+2470_429+2471insTATATATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88457695	C C	CAAAATAA others(8): Show CAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00642.hp1 others(21): Show HG00597.hp1 HG00639.hp2 HG00642.hp1 HG01099.hp1 HG01261.hp1 HG01891.hp1 HG01928.hp2 HG02080.hp1 HG02135.hp1 HG02257.hp1 HG02486.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG03453.hp1 HG03471.hp1 HG03942.hp2 NA19030.hp1 NA19064.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0009 a0012	a0001c0004 a0002c0002 a0003c0003 others(4): Show a0001c0004 a0002c0002 a0003c0003 a0004c0005 a0006c0008 a0009c0015 a0012c0025	a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 others(6): Show a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0005t0001 a0006c0008t0001 a0009c0015t0001 a0012c0025t0001	a0001c0004t0001g0110 a0002c0002t0001g0006 a0002c0002t0001g0008 others(21): Show a0001c0004t0001g0110 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0129 a0002c0002t0001g0153 a0002c0002t0001g0197 a0002c0002t0002g0313 a0003c0003t0001g0084 a0003c0003t0001g0148 a0003c0003t0002g0341 a0004c0005t0001g0115 a0004c0005t0001g0127 a0004c0005t0001g0238 a0006c0008t0001g0243 a0006c0008t0001g0244 a0009c0015t0001g0192 a0009c0015t0001g0193 a0012c0025t0001g0184	24	386	0.0622	15	c.-27 others(34): Show c.-270-7347_-270-7333dupAAAATAAAATAAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88457751	A A	AAAATAAA others(8): Show AAAATAAAATAAAATC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	386	0.0026	15	c.-27 others(34): Show c.-270-7333_-270-7332insAAAATAAAATCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSPP1_chr8_67059392_67201614	67083531	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	1	158	0.0063	15	c.200 others(32): Show c.200-2472_200-2458dupAAAAAAAAAAAAAAA	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSPP1_chr8_67059392_67201614	67184744	T T	TATAATAA others(8): Show TATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 HG02145.hp2 HG02922.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0002 a0006c0008t0002 a0002c0002t0002 a0006c0008t0002	a0002c0002t0002g0134 a0006c0008t0002g0125 a0002c0002t0002g0134 a0006c0008t0002g0125	2	158	0.0127	15	c.322 others(34): Show c.3220+4829_3220+4843dupTAATAATAATAATAA	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	28/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP2_chr12_51056205_51088596	51072562	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	420	0.0024	15	c.411 others(32): Show c.411+1246_411+1260dupTTTTTTTTTTTTTTT	CSRNP2	ENSG00000110925.7	transcript	ENST00000228515.6	protein_coding	3/4			chr12	TogoVar
CSRNP3_chr2_165464698_165694407	165665775	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0080 a0001c0002t0006g0080	1	246	0.0041	15	c.408 others(32): Show c.408+7755_408+7756insGAGAGAGAGAGAGAG	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6			chr2	TogoVar
CST2_chr20_23818769_23831729	23830075	T T	TTCTCAAG others(8): Show TTCTCAAGTATACTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	470	0.0021	15	c.-34 others(26): Show c.-3416_-3415insGCAGTATACTTGAGA	CST2	ENSG00000170369.4	transcript	ENST00000304725.3	protein_coding		3347		chr20	TogoVar
CST3_chr20_23628657_23642955	23637910	T T	TGGAGCTA others(8): Show TGGAGCTAGATAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp1 others(24): Show HG00408.hp2 HG00423.hp2 HG00621.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18980.hp1 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA19056.hp2 NA19074.hp2 NA19079.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0049 a0001c0001t0003g0005 a0001c0001t0003g0049	27	420	0.0643	15	c.-63 others(22): Show c.-63_-49dupTCTCTATCTAGCTCC	CST3	ENSG00000101439.9	transcript	ENST00000376925.8	protein_coding	1/3	49		chr20	TogoVar
CST8_chr20_23486117_23501010	23490070	T T	TAAATATT others(8): Show TAAATATTATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	440	0.0023	15	c.-14 others(26): Show c.-1416_-1415insAAATATTATATATAA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		1046		chr20	TogoVar
CST8_chr20_23486117_23501010	23490247	A A	ATAAATTA others(8): Show ATAAATTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	440	0.0023	15	c.-12 others(26): Show c.-1239_-1238insTAAATTATATATAAT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		869		chr20	TogoVar
CST8_chr20_23486117_23501010	23490247	A A	ATAATATA others(8): Show ATAATATATATAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG01167.hp1 others(18): Show HG00738.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02451.hp1 HG02622.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp1 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0019	21	440	0.0477	15	c.-12 others(26): Show c.-1239_-1238insTAATATATATAAATT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		869		chr20	TogoVar
CSTA_chr3_122320248_122346969	122333540	G G	GAAGAAAG others(8): Show GAAGAAAGAAAGAAGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	378	0.0027	15	c.67- others(30): Show c.67-3994_67-3993insGAAAGAAAGAAAGAA	CSTA	ENSG00000121552.4	transcript	ENST00000264474.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSTF1_chr20_56387645_56411362	56404812	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG02615.hp1 HG00741.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0078 a0001c0001t0077 a0001c0001t0078	a0001c0001t0077g0005 a0001c0001t0078g0055 a0001c0001t0077g0005 a0001c0001t0078g0055	2	422	0.0047	15	c.10 others(26): Show c.1097_*1111dupTTTTTTTTTTTTTTT	CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding	6/6	1112	INFO_REALIGN_3_PRIME	chr20	TogoVar
CSTPP1_chr11_46931761_47167247	47122091	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	224	0.0045	15	c.281 others(34): Show c.281-15553_281-15552insAAAAAAAAAAAAATA	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CS_chr12_56266699_56305330	56303534	C C	CATTTTTT others(8): Show CATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01070.hp2 others(7): Show HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01975.hp2 HG02451.hp1 HG02897.hp2 HG03688.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0001g0140 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0229	10	316	0.0317	15	c.-33 others(26): Show c.-3334_-3333insAAAAAAAAAAAAAAT	CS	ENSG00000062485.19	transcript	ENST00000351328.8	protein_coding		3205		chr12	TogoVar
CTAG1A_chrX_154580133_154591816	154585728	C C	CGGGGTCA others(8): Show CGGGGTCATGCGGGGA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0007 a0012c0007t0007	a0012c0007t0007g0025 a0012c0007t0007g0025	1	293	0.0034	15	c.269 others(30): Show c.269+256_269+257insGTCATGCGGGGAGGG	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
CTCF_chr16_67557526_67644177	67580772	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp1 HG03540.hp1 others(2): Show HG02886.hp2 HG03041.hp1 HG03540.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0004g0158 others(2): Show a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0004g0158 a0001c0001t0004g0160 a0001c0001t0004g0161	5	168	0.0298	15	c.-10 others(32): Show c.-10+9517_-10+9531dupTTTTTTTTTTTTTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTCF_chr16_67557526_67644177	67584043	T T	TTGTGTGC others(8): Show TTGTGTGCAGCCTCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00741.hp2 others(41): Show HG00438.hp2 HG00639.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG02027.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18995.hp2 NA19060.hp2 NA19240.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0002t0003	a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 others(41): Show a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0168 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0006g0131 a0001c0001t0006g0135 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0009g0154 a0001c0001t0010g0166 a0001c0001t0013g0045 a0001c0002t0003g0142	44	168	0.2619	15	c.-10 others(34): Show c.-10+12789_-10+12803dupCCTCACTGTGTGCAG	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTCF_chr16_67557526_67644177	67631154	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0129 a0001c0001t0007g0129	1	168	0.0060	15	c.183 others(34): Show c.1837+1631_1837+1632insTTTTTTTTTTTTTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTDSP2_chr12_57814927_57851729	57818182	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA19005.hp1 NA19077.hp1 others(1): Show NA18990.hp1 NA19005.hp1 NA19077.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0004	4	346	0.0116	15	c.54 others(26): Show c.5405_*5419dupAAAAAAAAAAAAAAA	CTDSP2	ENSG00000175215.11	transcript	ENST00000398073.7	protein_coding		1744		chr12	TogoVar
CTDSPL2_chr15_44422629_44534038	44462700	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0060 a0001c0003t0008g0060	1	234	0.0043	15	c.186 others(32): Show c.186+3510_186+3524dupTTTTTTTTTTTTTTT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTIF_chr18_48534031_48868217	48568633	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp2 HG02132.hp2 HG01346.hp1 HG01346.hp2 HG02132.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0004 a0006c0006 a0001c0001 a0002c0004 a0006c0006	a0001c0001t0012 a0002c0004t0014 a0006c0006t0001 a0001c0001t0012 a0002c0004t0014 a0006c0006t0001	a0001c0001t0012g0122 a0002c0004t0014g0114 a0006c0006t0001g0099 a0001c0001t0012g0122 a0002c0004t0014g0114 a0006c0006t0001g0099	3	144	0.0208	15	c.-29 others(34): Show c.-29+29342_-29+29356dupAAAAAAAAAAAAAAA	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA1_chr5_138748425_138940034	138777876	A A	AGAGGGAG others(8): Show AGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0007 a0001c0004t0004g0007	1	180	0.0056	15	c.-2- others(30): Show c.-2-4020_-2-4006dupAGAGGAGGGAGAGGG	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138777888	A A	AGAGGAGG others(8): Show AGAGGAGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01516.hp2 HG03139.hp1 others(1): Show HG01243.hp2 HG01516.hp2 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0014t0001g0145	4	180	0.0222	15	c.-2- others(30): Show c.-2-4021_-2-4020insGGAGGAGGGAGAGGG	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138777903	A A	AGAGGAGG others(8): Show AGAGGAGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01884.hp1 HG02129.hp2 others(11): Show HG00438.hp2 HG01884.hp1 HG02129.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG03225.hp2 HG03453.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0004t0004 a0001c0009t0004	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(11): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0002t0002g0069 a0001c0002t0002g0082 a0001c0002t0003g0004 a0001c0002t0003g0043 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0005g0026 a0001c0002t0005g0068 a0001c0004t0004g0005 a0001c0004t0004g0180 a0001c0009t0004g0006	14	180	0.0778	15	c.-2- others(30): Show c.-2-3970_-2-3956dupAGGGAGAGGGGGAGG	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138825482	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(27): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp2 HG00741.hp2 HG01071.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG01433.hp1 HG01975.hp2 HG01993.hp2 HG02074.hp1 HG02258.hp2 HG02698.hp2 HG02735.hp2 HG02970.hp1 HG03209.hp1 HG03471.hp1 HG03492.hp2 HG03516.hp2 HG03942.hp1 NA19076.hp1 NA19076.hp2 NA19085.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0011 a0001c0001 a0001c0005 a0001c0011	a0001c0001t0001 a0001c0001t0007 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0005t0001 a0001c0011t0001	a0001c0001t0001g0037 a0001c0001t0001g0087 a0001c0001t0001g0098 others(27): Show a0001c0001t0001g0037 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0005t0001g0156 a0001c0005t0001g0167 a0001c0011t0001g0107	30	180	0.1667	15	c.858 others(30): Show c.858+685_858+699dupTTTTTTTTTTTTTTT	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138858597	T T	TTTCTTTT others(8): Show TTTCTTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0019 a0001c0012t0003g0019	1	180	0.0056	15	c.106 others(36): Show c.1063-27613_1063-27612insCTTTTTCTTTTTCTT	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138916177	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02970.hp2 others(1): Show HG02257.hp1 HG02622.hp1 HG02970.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018	4	180	0.0222	15	c.139 others(34): Show c.1390-1551_1390-1550insAAAAAAAAAAAAAAA	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA2_chr2_79508051_80653780	79536686	T T	TTTTTCTT others(8): Show TTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02965.hp1 HG03225.hp1 HG01106.hp2 HG02965.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0004 a0001c0002t0001g0047 a0001c0003t0001g0038 a0001c0002t0001g0004 a0001c0002t0001g0047 a0001c0003t0001g0038	3	68	0.0441	15	c.-6+ others(32): Show c.-6+23493_-6+23507dupTCTTTTCTTTTCTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79818821	T T	TTTATATA others(8): Show TTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0043 a0001c0005t0002g0043	1	68	0.0147	15	c.299 others(34): Show c.299-39191_299-39190insTATATATATATATAT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79982277	A A	AACACACA others(8): Show AACACACATATAAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0068 a0001c0007t0001g0068	1	68	0.0147	15	c.105 others(36): Show c.1056+72481_1056+72482insCACACATATAAAACA	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80079828	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01884.hp2 HG02809.hp2 others(2): Show HG00673.hp2 HG01884.hp2 HG02809.hp2 HG03516.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0004 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0004 a0001c0002t0001 a0001c0004t0001 a0001c0005t0002	a0001c0001t0004g0061 a0001c0002t0001g0034 a0001c0002t0001g0064 others(2): Show a0001c0001t0004g0061 a0001c0002t0001g0034 a0001c0002t0001g0064 a0001c0004t0001g0021 a0001c0005t0002g0009	5	68	0.0735	15	c.105 others(38): Show c.1056+170073_1056+170087dupAATAAAATAAAATAA	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80230958	G G	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03516.hp1 HG02647.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0028 a0001c0002t0001g0034 a0001c0001t0001g0028 a0001c0002t0001g0034	2	68	0.0294	15	c.105 others(38): Show c.1057-162239_1057-162225dupGTTTTGTTTTGTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar

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