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
CTNNAL1_chr9_108937577_109018499	109008876	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	420	0.0024	-12	c.141 others(29): Show c.141+4414_141+4425delAAAAAAAAAAAA	CTNNAL1	ENSG00000119326.15	transcript	ENST00000325551.9	protein_coding	1/18			chr9	TogoVar
CTNNBIP1_chr1_9843276_9915269	9876845	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01891.hp2 HG02155.hp1 others(31): Show HG00423.hp1 HG01891.hp2 HG02155.hp1 HG02165.hp1 HG02559.hp2 HG02630.hp2 HG02895.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03540.hp2 HG03704.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18980.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19004.hp1 NA19068.hp2 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0022 a0001c0001t0026 a0001c0001t0029	a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0188 others(30): Show a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0188 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0266 a0001c0001t0004g0010 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0008g0159 a0001c0001t0008g0204 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0022g0221 a0001c0001t0026g0203 a0001c0001t0029g0280	34	310	0.1097	-12	c.-25 others(29): Show c.-25+1048_-25+1059delGTGTGTGTGTGT	CTNNBIP1	ENSG00000178585.15	transcript	ENST00000377263.6	protein_coding	3/5			chr1	TogoVar
CTNNBIP1_chr1_9843276_9915269	9899455	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0040 a0001c0003t0023g0040	1	310	0.0032	-12	c.-14 others(33): Show c.-144+10628_-144+10639delTTTTTTTTTTTT	CTNNBIP1	ENSG00000178585.15	transcript	ENST00000377263.6	protein_coding	1/5			chr1	TogoVar
CTNNBL1_chr20_37689030_37877118	37722473	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG03516.hp2 others(1): Show HG02451.hp1 HG02451.hp2 HG03516.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0134 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0134 a0001c0001t0001g0260	4	266	0.0150	-12	c.31- others(29): Show c.31-10366_31-10355delTAAATAAATAAA	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNNBL1_chr20_37689030_37877118	37739078	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG03139.hp2 HG01515.hp2 HG01517.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0110 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0110	3	266	0.0113	-12	c.326 others(29): Show c.326+1622_326+1633delGTGTGTGTGTGT	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNNBL1_chr20_37689030_37877118	37854551	ATATTATT others(5): Show ATATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG00735.hp2 others(19): Show HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01169.hp2 HG01346.hp1 HG01884.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02622.hp2 HG02723.hp1 HG02818.hp1 HG03098.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG06807.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0207 a0001c0001t0001g0224 a0001c0001t0001g0252	22	266	0.0827	-12	c.139 others(31): Show c.1393-5304_1393-5293delATTATTATTATT	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNND2_chr5_10966836_11909446	11052984	GCAGTGGC others(5): Show GCAGTGGCTAGTT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	26	0.0385	-12	c.278 others(33): Show c.2788+29700_2788+29711delAACTAGCCACTG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	16/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11087694	TCAATTTA others(5): Show TCAATTTAATAAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02647.hp2 others(6): Show HG02258.hp1 HG02647.hp1 HG02647.hp2 HG02922.hp2 HG03225.hp2 HG03453.hp1 NA18522.hp1 NA19043.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020	9	26	0.3462	-12	c.263 others(31): Show c.2638-4860_2638-4849delCTTATTAAATTG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	15/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11102970	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	26	0.0385	-12	c.246 others(31): Show c.2464-4234_2464-4223delAAAAAAAAAAAA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	14/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11170569	TACACACA others(5): Show TACACACACATAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	26	0.0385	-12	c.197 others(33): Show c.1976-10822_1976-10811delGTATGTGTGTGT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	11/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11277500	ATATTTAT others(5): Show ATATTTATTTATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG03209.hp1 others(1): Show HG02258.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0003g0026 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0003g0026 a0001c0002t0001g0013	4	26	0.1539	-12	c.162 others(33): Show c.1629-40689_1629-40678delAATAAATAAATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	9/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11307304	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	26	0.0385	-12	c.162 others(33): Show c.1628+39056_1628+39067delACACACACACAC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	9/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11316465	TTTTTTAT others(5): Show TTTTTTATTATTA	T T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	26	0.0385	-12	c.162 others(33): Show c.1628+29895_1628+29906delTAATAATAAAAA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	9/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11374775	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03130.hp2 homoSapiens_chm13v2.hp1 HG00738.hp2 HG03130.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0006t0002 a0001c0007t0001 a0001c0001t0001 a0001c0006t0002 a0001c0007t0001	a0001c0001t0001g0017 a0001c0006t0002g0025 a0001c0007t0001g0002 a0001c0001t0001g0017 a0001c0006t0002g0025 a0001c0007t0001g0002	3	26	0.1154	-12	c.117 others(31): Show c.1177+9878_1178-9886delAAAAAAAAAAAA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	7/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11398843	TCTGGGTG others(5): Show TCTGGGTGCCAGG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp1 HG03453.hp2 others(3): Show HG02647.hp1 HG03225.hp1 HG03453.hp2 NA18522.hp2 NA19043.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0002c0008t0001 a0001c0001t0001 a0001c0002t0001 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0018 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0002t0001g0006 a0002c0008t0001g0014	6	26	0.2308	-12	c.440 others(29): Show c.440-1652_440-1641delCCTGGCACCCAG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	5/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11435115	CTATTTAT others(5): Show CTATTTATTTATT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG02258.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0026 a0001c0002t0001g0013 a0001c0001t0003g0026 a0001c0002t0001g0013	2	26	0.0769	-12	c.288 others(31): Show c.288-23058_288-23047delAATAAATAAATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11439740	ATATCTAT others(5): Show ATATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19043.hp2 homoSapiens_chm13v2.hp1 HG02647.hp2 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0001t0001g0017 a0001c0002t0001g0006 a0001c0002t0001g0015	3	26	0.1154	-12	c.288 others(31): Show c.288-27683_288-27672delGATAGATAGATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11470972	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	26	0.0385	-12	c.288 others(31): Show c.288-58915_288-58904delAAAATATATATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11470974	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG02258.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0026 a0001c0002t0001g0013 a0001c0001t0003g0026 a0001c0002t0001g0013	2	26	0.0769	-12	c.288 others(31): Show c.288-58917_288-58906delAAAAAATATATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11547268	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03471.hp2 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0016 a0001c0001t0001g0024	2	26	0.0769	-12	c.287 others(31): Show c.287+17664_287+17675delATTTATTTATTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11558372	GTGTGTGT others(5): Show GTGTGTGTGTGAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02647.hp1 HG03209.hp2 others(3): Show HG00738.hp1 HG02647.hp1 HG03209.hp2 NA18522.hp1 NA18522.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0008 a0001c0001 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0009t0001 a0002c0008t0001 a0001c0001t0001 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0009t0001g0008 a0002c0008t0001g0014	6	26	0.2308	-12	c.287 others(29): Show c.287+6560_287+6571delGTCACACACACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11690742	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG03453.hp2 HG02922.hp1 HG02922.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018	3	26	0.1154	-12	c.174 others(31): Show c.174+41382_174+41393delTTTTTTTTTTTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11770408	AAAGGAAA others(5): Show AAAGGAAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG02258.hp1 others(13): Show HG00738.hp1 HG00738.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 NA19043.hp1 NA19068.hp1 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0016 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0003g0026 a0001c0002t0001g0001 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020 a0001c0007t0001g0002 a0001c0009t0001g0008	16	26	0.6154	-12	c.38- others(29): Show c.38-38148_38-38137delCCTTCTTTCCTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11818066	ACGTTCAT others(5): Show ACGTTCATTTGGT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	26	0.0385	-12	c.37+ others(29): Show c.37+85739_37+85750delACCAAATGAACG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11847126	TTTTATAT others(5): Show TTTTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	26	0.0385	-12	c.37+ others(29): Show c.37+56679_37+56690delTATATATATAAA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3641378	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	372	0.0027	-12	c.61+ others(27): Show c.61+1113_61+1124delATATATTTTTTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS2_chrX_16582999_16717669	16603416	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show HG00733.hp2 HG01069.hp1 HG01070.hp1 HG02280.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0009 a0001c0001t0003g0140 a0001c0001t0003g0141 others(8): Show a0001c0001t0003g0009 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0200 a0001c0001t0003g0214 a0001c0001t0007g0162 a0001c0001t0007g0165	11	226	0.0487	-12	c.169 others(31): Show c.1691+6113_1691+6124delATTTATTTATTT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	17/18			chrX	TogoVar
CTPS2_chrX_16582999_16717669	16639777	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03486.hp2 NA18747.hp1 others(1): Show HG02071.hp1 HG03486.hp2 NA18747.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0036 a0001c0001t0001g0196 a0001c0001t0001g0197 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0008g0204	4	226	0.0177	-12	c.129 others(29): Show c.1297-546_1297-535delCTTTCTTTCTTT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTPS2_chrX_16582999_16717669	16668770	AAAGGAAG others(5): Show AAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG03225.hp1 HG02280.hp1 HG02630.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0134 a0001c0001t0002g0219 a0001c0001t0002g0043 a0001c0001t0002g0134 a0001c0001t0002g0219	3	226	0.0133	-12	c.119 others(31): Show c.1190-1058_1190-1047delCCTTCCTTCCTT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	11/18			chrX	TogoVar
CTPS2_chrX_16582999_16717669	16709848	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	226	0.0044	-12	c.-40 others(29): Show c.-40+2475_-40+2486delTTTTTTTTTTTT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	1/18			chrX	TogoVar
CTR9_chr11_10746246_10784746	10747275	ATATTTTA others(5): Show ATATTTTATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02622.hp2 others(3): Show HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0036 a0001c0003t0001g0108 a0001c0003t0001g0189 others(3): Show a0001c0002t0001g0036 a0001c0003t0001g0108 a0001c0003t0001g0189 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199	6	406	0.0148	-12	c.-41 others(23): Show c.-4137_-4126delTATTTTATATAT	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3970		chr11	TogoVar
CTRC_chr1_15433443_15454242	15435495	ATGTGTGT others(5): Show ATGTGTGTGCATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02080.hp2 HG02523.hp1 others(1): Show HG02040.hp2 HG02080.hp2 HG02523.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	428	0.0094	-12	c.-29 others(23): Show c.-2969_-2958delTGTGTGTGCATG	CTRC	ENSG00000162438.12	transcript	ENST00000375949.5	protein_coding		2947		chr1	TogoVar
CTSB_chr8_11837524_11873087	11839668	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00621.hp2 NA19240.hp2 others(1): Show HG00544.hp1 HG00621.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0036 a0001c0001t0002 a0001c0001t0003 a0001c0003t0036	a0001c0001t0002g0048 a0001c0001t0003g0312 a0001c0003t0036g0151 others(1): Show a0001c0001t0002g0048 a0001c0001t0003g0312 a0001c0003t0036g0151 a0001c0003t0036g0153	4	438	0.0091	-12	c.54 others(23): Show c.5445_*5456delTTTTTTTTTTTT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding		2855		chr8	TogoVar
CTSC_chr11_88288592_88342736	88309812	GCGCACAC others(5): Show GCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp2 HG03453.hp2 HG02647.hp2 HG02896.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125	3	434	0.0069	-12	c.486 others(27): Show c.486-506_486-495delTGTGTGTGTGCG	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	3/6			chr11	TogoVar
CTSD_chr11_1747755_1768927	1748575	TACCGCCA others(5): Show TACCGCCACGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02258.hp2 others(3): Show HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02818.hp2 HG03209.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0042 a0001c0001t0004g0031 a0001c0001t0004g0162 others(1): Show a0001c0001t0001g0042 a0001c0001t0004g0031 a0001c0001t0004g0162 a0001c0001t0004g0163	6	386	0.0155	-12	c.49 others(23): Show c.4916_*4927delGCCCGTGGCGGT	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		4179		chr11	TogoVar
CTSD_chr11_1747755_1768927	1748601	CCACCGCG others(5): Show CCACCGCGGGCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01069.hp2 others(12): Show HG00323.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01175.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG02027.hp1 HG02683.hp2 HG03704.hp1 HG04204.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0002c0003t0017 a0001c0001t0002 a0002c0003t0002 a0002c0003t0017	a0001c0001t0002g0060 a0002c0003t0002g0011 a0002c0003t0002g0020 others(6): Show a0001c0001t0002g0060 a0002c0003t0002g0011 a0002c0003t0002g0020 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0070 a0002c0003t0017g0193	15	386	0.0389	-12	c.48 others(23): Show c.4890_*4901delCAGCCCGCGGTG	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		4153		chr11	TogoVar
CTSG_chr14_24568518_24581250	24577791	GTCATGAG others(5): Show GTCATGAGTCCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-12	c.-15 others(23): Show c.-1580_-1569delATGGACTCATGA	CTSG	ENSG00000100448.4	transcript	ENST00000216336.3	protein_coding		1542		chr14	TogoVar
CTSK_chr1_150791208_150813260	150807074	TCTCTCTC others(5): Show TCTCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01981.hp1 HG03654.hp1 HG01943.hp2 HG01981.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071	3	392	0.0077	-12	c.-1- others(25): Show c.-1-280_-1-269delTGTGTGAGAGAG	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	1/7			chr1	TogoVar
CTSK_chr1_150791208_150813260	150807078	TCTCACAC others(5): Show TCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02071.hp1 HG02080.hp2 others(9): Show HG00280.hp2 HG02071.hp1 HG02080.hp2 HG06807.hp1 NA18951.hp1 NA18955.hp1 NA18975.hp2 NA18980.hp1 NA18997.hp2 NA19043.hp1 NA19064.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0057 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060	12	392	0.0306	-12	c.-1- others(25): Show c.-1-284_-1-273delTGTGTGTGTGAG	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	1/7			chr1	TogoVar
CTSK_chr1_150791208_150813260	150807080	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02257.hp1 others(20): Show HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0030 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0190 a0003c0004t0001g0056	23	392	0.0587	-12	c.-1- others(25): Show c.-1-286_-1-275delTGTGTGTGTGTG	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	1/7			chr1	TogoVar
CTSK_chr1_150791208_150813260	150809634	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03195.hp1 HG02258.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	2	392	0.0051	-12	c.-14 others(23): Show c.-1434_-1423delTTTTTTTTTTTT	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding		1375		chr1	TogoVar
CTSL_chr9_87721119_87736469	87727041	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG01981.hp2 others(19): Show HG00408.hp2 HG00609.hp2 HG01981.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02451.hp2 HG03209.hp2 HG03225.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18969.hp1 NA18971.hp2 NA18976.hp1 NA18979.hp1 NA19005.hp2 NA19068.hp1 NA19075.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0001g0054	22	388	0.0567	-12	c.-10 others(27): Show c.-10-523_-10-512delAATAAATAAATA	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CTSL_chr9_87721119_87736469	87734804	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	388	0.0026	-12	c.36 others(23): Show c.3698_*3709delTTTTTTTTTTTT	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding		3336		chr9	TogoVar
CTSS_chr1_150725188_150770778	150726447	TACACACA others(5): Show TACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	344	0.0029	-12	c.65 others(23): Show c.6587_*6598delGTGTGTGTGTGT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding		3740		chr1	TogoVar
CTSS_chr1_150725188_150770778	150744136	ATGTACAC others(5): Show ATGTACACATAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01981.hp1 HG00741.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0164 a0001c0001t0001g0168	2	344	0.0058	-12	c.896 others(29): Show c.896+3629_896+3640delATTATGTGTACA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744137	TGTACACA others(5): Show TGTACACATAATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01109.hp1 others(29): Show HG00140.hp2 HG00280.hp1 HG01109.hp1 HG01358.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02738.hp1 HG02896.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18961.hp2 NA18964.hp2 NA18993.hp1 NA18999.hp1 NA19009.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0003c0003t0001 a0003c0003t0006	a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0131 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0278 a0002c0002t0002g0008 a0002c0002t0002g0044 a0002c0002t0002g0100 a0002c0002t0002g0107 a0002c0002t0003g0272 a0003c0003t0001g0111 a0003c0003t0006g0022	32	344	0.0930	-12	c.896 others(29): Show c.896+3628_896+3639delTATTATGTGTAC	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSZ_chr20_58990185_59012254	59008576	TATAGGAG others(5): Show TATAGGAGCTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(250): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0007 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0004t0001 a0003c0007t0002 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(98): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0034 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0004g0046 a0001c0001t0009g0123 a0001c0001t0009g0124 a0001c0001t0009g0125 a0001c0001t0011g0056 a0001c0001t0012g0111 a0001c0001t0013g0126 a0001c0002t0001g0089 a0001c0002t0004g0048 a0001c0002t0008g0078 a0001c0002t0008g0095 a0001c0002t0008g0117 a0001c0004t0001g0083 a0001c0004t0001g0084 a0003c0007t0002g0060 a0006c0008t0001g0099	253	436	0.5803	-12	c.-14 others(23): Show c.-1460_-1449delCCCAGCTCCTAT	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding		1323		chr20	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112400966	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01175.hp2 HG01346.hp2 others(25): Show HG00423.hp1 HG01175.hp2 HG01346.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02074.hp2 HG02165.hp1 HG02602.hp1 HG02683.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18957.hp1 NA18966.hp1 NA18970.hp1 NA18975.hp1 NA18979.hp2 NA18988.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19084.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0028 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0028 a0001c0001t0030	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 others(25): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0253 a0001c0001t0005g0126 a0001c0001t0005g0207 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0215 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0254 a0001c0001t0028g0033 a0001c0001t0030g0208	28	324	0.0864	-12	c.-13 others(31): Show c.-134+4707_-134+4718delAAAAAAAAAAAA	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112425993	GTGTGTGT others(5): Show GTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	324	0.0031	-12	c.99+ others(27): Show c.99+9733_99+9744delGTGTGTGTCTGT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112447272	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0301 a0001c0001t0004g0301	1	324	0.0031	-12	c.100 others(29): Show c.100-1656_100-1645delAAAAAAAAAAAA	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar

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