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
CTNNA3_chr10_65907523_67701195	67074342	CTTTTT CTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02145.hp1 HG02280.hp1 others(3): Show HG01081.hp2 HG02145.hp1 HG02280.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0010 a0001c0001 a0001c0003 a0005c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0003t0008 a0001c0003t0014 a0005c0010t0002	a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0008g0004 others(3): Show a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0008g0004 a0001c0003t0008g0002 a0001c0003t0014g0025 a0005c0010t0002g0021	6	46	0.1304	-5	c.104 others(28): Show c.1047+105970_1047+105974delAAAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67190647	CTTTCT CTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp1 HG02145.hp2 HG03130.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0003 a0001c0001t0001 a0003c0009t0003	a0001c0001t0001g0006 a0003c0009t0003g0036 a0001c0001t0001g0006 a0003c0009t0003g0036	2	46	0.0435	-5	c.844 others(24): Show c.844-10132_844-10128delAGAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	6/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67199100	CAGGAT CAGGAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02717.hp2 others(1): Show HG02145.hp1 HG02280.hp1 HG02717.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0003t0014	a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0008g0004 others(1): Show a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0008g0004 a0001c0003t0014g0025	4	46	0.0870	-5	c.844 others(24): Show c.844-18585_844-18581delATCCT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	6/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67237136	ATATAT ATATAT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18964.hp1 NA19080.hp2 NA18612.hp2 NA18964.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0003 a0001c0001t0004 a0002c0002t0003	a0001c0001t0004g0041 a0001c0001t0004g0043 a0002c0002t0003g0042 a0001c0001t0004g0041 a0001c0001t0004g0043 a0002c0002t0003g0042	3	46	0.0652	-5	c.580 others(24): Show c.580-17271_580-17267delATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67268308	ATAAAT ATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18612.hp2 NA18964.hp1 others(1): Show HG03579.hp2 NA18612.hp2 NA18964.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0019 a0002c0002t0003 a0001c0001t0004 a0001c0001t0019 a0002c0002t0003	a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0019g0019 others(1): Show a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0019g0019 a0002c0002t0003g0042	4	46	0.0870	-5	c.580 others(24): Show c.580-48443_580-48439delATTTA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67268354	TAAATA TAAATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG03540.hp2 HG02717.hp1 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0004t0007 a0001c0001t0002 a0001c0001t0006 a0001c0004t0007	a0001c0001t0002g0009 a0001c0001t0006g0027 a0001c0004t0007g0005 a0001c0001t0002g0009 a0001c0001t0006g0027 a0001c0004t0007g0005	3	46	0.0652	-5	c.580 others(24): Show c.580-48489_580-48485delTATTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67529653	TAAATA TAAATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG02922.hp1 others(1): Show HG02647.hp1 HG02717.hp1 HG02922.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0007 a0001c0004 a0001c0006 a0001c0007	a0001c0004t0001 a0001c0004t0007 a0001c0006t0001 others(1): Show a0001c0004t0001 a0001c0004t0007 a0001c0006t0001 a0001c0007t0015	a0001c0004t0001g0018 a0001c0004t0007g0005 a0001c0006t0001g0001 others(1): Show a0001c0004t0001g0018 a0001c0004t0007g0005 a0001c0006t0001g0001 a0001c0007t0015g0016	4	46	0.0870	-5	c.460 others(22): Show c.460-7697_460-7693delTATTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	4/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67663316	ATTTCT ATTTCT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG02647.hp2 others(5): Show HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0004c0008	a0001c0001t0007 a0001c0001t0009 a0001c0001t0020 others(5): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0020 a0001c0003t0011 a0001c0005t0010 a0001c0006t0001 a0001c0007t0015 a0004c0008t0005	a0001c0001t0007g0020 a0001c0001t0009g0031 a0001c0001t0020g0030 others(5): Show a0001c0001t0007g0020 a0001c0001t0009g0031 a0001c0001t0020g0030 a0001c0003t0011g0032 a0001c0005t0010g0029 a0001c0006t0001g0001 a0001c0007t0015g0016 a0004c0008t0005g0033	8	46	0.1739	-5	c.-5- others(22): Show c.-5-15803_-5-15799delAGAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	1/17			chr10	TogoVar
CTNNAL1_chr9_108937577_109018499	108983084	TTAAAA TTAAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03831.hp2 NA19030.hp2 HG01081.hp2 HG03831.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0266 a0001c0001t0002g0036 a0001c0001t0006g0357 a0001c0001t0001g0266 a0001c0001t0002g0036 a0001c0001t0006g0357	3	420	0.0071	-5	c.900 others(18): Show c.900+56_900+60delTTTTA	CTNNAL1	ENSG00000119326.15	transcript	ENST00000325551.9	protein_coding	6/18			chr9	TogoVar
CTNNAL1_chr9_108937577_109018499	109008876	CTTTTT CTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG01496.hp1 others(4): Show HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG02572.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 others(4): Show a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0361 a0001c0001t0003g0362	7	420	0.0167	-5	c.141 others(22): Show c.141+4421_141+4425delAAAAA	CTNNAL1	ENSG00000119326.15	transcript	ENST00000325551.9	protein_coding	1/18			chr9	TogoVar
CTNNAL1_chr9_108937577_109018499	109016658	GTTTTT GTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01433.hp2 HG01496.hp1 others(18): Show HG01243.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG02055.hp2 HG02145.hp1 HG02451.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03669.hp1 HG03710.hp2 HG04115.hp1 NA18522.hp2 NA19030.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0009 a0001c0001 a0003c0003 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0003c0003t0001 a0008c0009t0001	a0001c0001t0001g0247 a0001c0001t0001g0301 a0001c0001t0002g0003 others(15): Show a0001c0001t0001g0247 a0001c0001t0001g0301 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0004g0246 a0003c0003t0001g0012 a0003c0003t0001g0302 a0008c0009t0001g0354	21	420	0.0500	-5	c.-32 others(16): Show c.-3221_-3217delAAAAA	CTNNAL1	ENSG00000119326.15	transcript	ENST00000325551.9	protein_coding		3160		chr9	TogoVar
CTNNB1_chr3_41194505_41245443	41227728	TTTTTG TTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01167.hp2 others(11): Show HG00673.hp1 HG01074.hp1 HG01167.hp2 HG02145.hp2 HG02717.hp2 HG03225.hp2 HG03688.hp1 HG04199.hp2 NA18943.hp2 NA18968.hp2 NA19001.hp2 NA19072.hp2 NA19079.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 others(4): Show a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 a0001c0001t0034 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041	a0001c0001t0014g0019 a0001c0001t0014g0049 a0001c0001t0014g0050 others(9): Show a0001c0001t0014g0019 a0001c0001t0014g0049 a0001c0001t0014g0050 a0001c0001t0014g0083 a0001c0001t0019g0010 a0001c0001t0019g0075 a0001c0001t0023g0084 a0001c0001t0023g0085 a0001c0001t0034g0010 a0001c0001t0036g0086 a0001c0001t0040g0087 a0001c0001t0041g0059	14	342	0.0409	-5	c.108 others(22): Show c.1081+386_1081+390delGTTTT	CTNNB1	ENSG00000168036.18	transcript	ENST00000349496.11	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNNB1_chr3_41194505_41245443	41239986	CTTTTT CTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01123.hp2 others(28): Show HG00323.hp2 HG00733.hp2 HG01123.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01975.hp1 HG01981.hp1 HG02486.hp2 HG02630.hp2 HG02698.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 NA18522.hp1 NA18941.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA19007.hp2 NA19012.hp1 NA19067.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0011 a0001c0001t0025 others(2): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0025 a0001c0001t0043 a0001c0003t0035	a0001c0001t0005g0015 a0001c0001t0005g0025 a0001c0001t0005g0026 others(23): Show a0001c0001t0005g0015 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0105 a0001c0001t0005g0107 a0001c0001t0005g0109 a0001c0001t0005g0122 a0001c0001t0005g0135 a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0142 a0001c0001t0005g0144 a0001c0001t0005g0147 a0001c0001t0005g0263 a0001c0001t0011g0012 a0001c0001t0011g0113 a0001c0001t0011g0115 a0001c0001t0011g0117 a0001c0001t0011g0118 a0001c0001t0011g0119 a0001c0001t0025g0027 a0001c0001t0025g0269 a0001c0001t0043g0015 a0001c0003t0035g0099	31	342	0.0906	-5	c.66 others(14): Show c.665_*669delTTTTT	CTNNB1	ENSG00000168036.18	transcript	ENST00000349496.11	protein_coding	15/15	665	INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNNBIP1_chr1_9843276_9915269	9886386	CAATCG CAATCG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01167.hp1 others(85): Show HG00423.hp1 HG00544.hp1 HG01167.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18954.hp2 NA18960.hp2 NA18967.hp1 NA18970.hp1 NA18974.hp2 NA18980.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19059.hp1 NA19068.hp2 NA19079.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0003t0023 a0001c0004t0015	a0001c0001t0001g0210 a0001c0001t0002g0156 a0001c0001t0002g0157 others(83): Show a0001c0001t0001g0210 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0266 a0001c0001t0004g0005 a0001c0001t0004g0010 a0001c0001t0004g0041 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0007g0281 a0001c0001t0007g0282 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 a0001c0001t0007g0290 a0001c0001t0007g0291 a0001c0001t0008g0159 a0001c0001t0008g0204 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0009g0174 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0011g0227 a0001c0001t0011g0228 a0001c0001t0011g0229 a0001c0001t0011g0230 a0001c0001t0013g0288 a0001c0001t0013g0292 a0001c0001t0013g0295 a0001c0001t0021g0042 a0001c0001t0022g0221 a0001c0001t0024g0160 a0001c0001t0025g0279 a0001c0001t0026g0203 a0001c0001t0027g0278 a0001c0001t0029g0280 a0001c0001t0032g0289 a0001c0003t0023g0040 a0001c0004t0015g0277	88	310	0.2839	-5	c.-14 others(24): Show c.-143-2653_-143-2649delCGATT	CTNNBIP1	ENSG00000178585.15	transcript	ENST00000377263.6	protein_coding	1/5			chr1	TogoVar
CTNNBL1_chr20_37689030_37877118	37845777	CTTGAA CTTGAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02486.hp2 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0217 a0001c0002t0001g0218	2	266	0.0075	-5	c.139 others(24): Show c.1392+3365_1392+3369delTGAAT	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNND1_chr11_57756802_57824540	57791980	ACTTTT ACTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02615.hp2 others(4): Show HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02818.hp1 HG03041.hp2 HG06807.hp2 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0195 a0002c0003t0004g0196 a0002c0003t0004g0200 others(4): Show a0002c0003t0004g0195 a0002c0003t0004g0196 a0002c0003t0004g0200 a0002c0003t0004g0201 a0002c0003t0004g0202 a0002c0003t0004g0203 a0002c0003t0004g0254	7	288	0.0243	-5	c.195 others(20): Show c.195+315_195+319delTTTCT	CTNND1	ENSG00000198561.16	transcript	ENST00000399050.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTNND1_chr11_57756802_57824540	57818369	TTTCTC TTTCTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG02145.hp1 HG02451.hp2 others(16): Show HG01261.hp2 HG02145.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02818.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0004 a0002c0005t0004 a0002c0003t0004 a0002c0005t0004	a0002c0003t0004g0183 a0002c0003t0004g0184 a0002c0003t0004g0185 others(16): Show a0002c0003t0004g0183 a0002c0003t0004g0184 a0002c0003t0004g0185 a0002c0003t0004g0186 a0002c0003t0004g0187 a0002c0003t0004g0195 a0002c0003t0004g0196 a0002c0003t0004g0197 a0002c0003t0004g0200 a0002c0003t0004g0201 a0002c0003t0004g0202 a0002c0003t0004g0203 a0002c0003t0004g0254 a0002c0003t0004g0255 a0002c0003t0004g0265 a0002c0005t0004g0177 a0002c0005t0004g0198 a0002c0005t0004g0199 a0002c0005t0004g0261	19	288	0.0660	-5	c.20 others(16): Show c.2064_*2068delCTCTT	CTNND1	ENSG00000198561.16	transcript	ENST00000399050.10	protein_coding	21/21	2064	INFO_REALIGN_3_PRIME	chr11	TogoVar
CTNND2_chr5_10966836_11909446	11044540	AAATAC AAATAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02647.hp1 others(7): Show HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 NA18522.hp1 NA19043.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0002t0001g0001 a0001c0002t0001g0013 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020 a0001c0006t0002g0025	10	26	0.3846	-5	c.278 others(26): Show c.2789-21566_2789-21562delGTATT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	16/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11098128	GTTCTT GTTCTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02922.hp2 others(5): Show HG02258.hp1 HG02647.hp1 HG02922.hp2 HG03225.hp2 HG03453.hp1 NA18522.hp1 NA19043.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020	8	26	0.3077	-5	c.263 others(22): Show c.2637+442_2637+446delAAGAA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	15/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11311276	CCCTCA CCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02258.hp1 HG02647.hp1 others(16): Show HG00738.hp1 HG02258.hp1 HG02647.hp1 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020 a0001c0006t0002g0025 a0002c0008t0001g0014	19	26	0.7308	-5	c.162 others(26): Show c.1628+35091_1628+35095delTGAGG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	9/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11381977	AAAAAC AAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03130.hp2 NA19043.hp2 others(2): Show HG00738.hp2 HG03130.hp2 NA19043.hp2 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0002t0001g0006 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0002t0001g0006 a0001c0006t0002g0025 a0001c0007t0001g0002	5	26	0.1923	-5	c.117 others(24): Show c.1177+2683_1177+2687delGTTTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	7/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11602705	ATATAT ATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG03471.hp2 HG02258.hp2 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0024 a0001c0001t0003g0026 a0001c0002t0001g0013 a0001c0001t0001g0024 a0001c0001t0003g0026 a0001c0002t0001g0013	3	26	0.1154	-5	c.175 others(24): Show c.175-37654_175-37650delATATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11691373	AAAAAT AAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02647.hp1 others(10): Show HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0006t0002 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0021 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0003g0026 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0006t0002g0025 a0001c0009t0001g0008 a0002c0008t0001g0014	13	26	0.5000	-5	c.174 others(24): Show c.174+40758_174+40762delATTTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11760049	CAAAAA CAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp2 NA18522.hp1 HG02922.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024	3	26	0.1154	-5	c.38- others(22): Show c.38-27782_38-27778delTTTTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11768267	AGTTTT AGTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02922.hp2 others(7): Show HG02647.hp1 HG02647.hp2 HG02922.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 NA19043.hp1 NA19068.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0004t0001g0019 a0001c0005t0001g0020	10	26	0.3846	-5	c.38- others(22): Show c.38-36000_38-35996delAAAAC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11834131	GAAATA GAAATA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp1 HG02647.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0004 a0001c0001t0001g0011	2	26	0.0769	-5	c.37+ others(22): Show c.37+69681_37+69685delTATTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11864883	CTTTTT CTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02258.hp2 HG02647.hp2 others(8): Show HG00738.hp1 HG02258.hp2 HG02647.hp2 HG02922.hp1 HG03225.hp2 NA18522.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0004t0001g0019	11	26	0.4231	-5	c.37+ others(22): Show c.37+38929_37+38933delAAAAA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3641377	TATATA TATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03130.hp1 HG03579.hp2 HG02559.hp2 HG03130.hp1 HG03579.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0008 a0003c0005t0008	a0003c0005t0008g0042 a0003c0005t0008g0043 a0003c0005t0008g0044 a0003c0005t0008g0042 a0003c0005t0008g0043 a0003c0005t0008g0044	3	372	0.0081	-5	c.61+ others(20): Show c.61+1111_61+1115delATATA	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11			chr17	TogoVar
CTNS_chr17_3631760_3668103	3641382	ATATTT ATATTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01071.hp2 others(10): Show HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01192.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG02148.hp1 HG03831.hp2 HG04115.hp2 NA18949.hp1 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0006 a0001c0003t0006 a0001c0003t0009 others(4): Show a0001c0001t0006 a0001c0003t0006 a0001c0003t0009 a0001c0003t0017 a0001c0003t0024 a0001c0003t0025 a0002c0002t0030	a0001c0001t0006g0241 a0001c0003t0006g0257 a0001c0003t0009g0016 others(9): Show a0001c0001t0006g0241 a0001c0003t0006g0257 a0001c0003t0009g0016 a0001c0003t0009g0032 a0001c0003t0009g0211 a0001c0003t0009g0239 a0001c0003t0017g0240 a0001c0003t0017g0256 a0001c0003t0024g0032 a0001c0003t0025g0016 a0002c0002t0030g0248 a0002c0002t0030g0249	13	372	0.0350	-5	c.61+ others(20): Show c.61+1117_61+1121delATTTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	ATTTTT ATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00558.hp2 others(25): Show HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG01934.hp1 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02300.hp1 HG03491.hp2 HG04115.hp1 HG04228.hp1 NA18747.hp1 NA18961.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19064.hp2 NA19066.hp1 NA19085.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0006 a0001c0001 a0001c0003 a0008c0006	a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 others(8): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0001t0053 a0001c0001t0092 a0001c0003t0003 a0001c0003t0006 a0001c0003t0016 a0001c0003t0048 a0001c0003t0052 a0008c0006t0003	a0001c0001t0003g0205 a0001c0001t0006g0230 a0001c0001t0023g0231 others(21): Show a0001c0001t0003g0205 a0001c0001t0006g0230 a0001c0001t0023g0231 a0001c0001t0053g0004 a0001c0001t0092g0227 a0001c0003t0003g0004 a0001c0003t0003g0008 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0204 a0001c0003t0003g0233 a0001c0003t0003g0246 a0001c0003t0006g0004 a0001c0003t0006g0008 a0001c0003t0006g0030 a0001c0003t0006g0209 a0001c0003t0006g0228 a0001c0003t0006g0232 a0001c0003t0016g0207 a0001c0003t0016g0208 a0001c0003t0016g0210 a0001c0003t0048g0004 a0001c0003t0052g0229 a0008c0006t0003g0219	28	372	0.0753	-5	c.61+ others(20): Show c.61+1138_61+1142delTTTTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS1_chr1_40974696_41017565	40993774	CTTTTT CTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01255.hp1 others(33): Show HG00639.hp2 HG01109.hp2 HG01255.hp1 HG01346.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG03669.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18986.hp2 NA18999.hp1 NA19001.hp1 NA19011.hp1 NA19056.hp2 NA19059.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19070.hp2 NA19076.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0001c0007t0002	a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 others(20): Show a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0195 a0001c0001t0002g0205 a0001c0001t0002g0230 a0001c0001t0002g0246 a0001c0002t0002g0011 a0001c0002t0002g0046 a0001c0002t0002g0065 a0001c0004t0002g0066 a0001c0004t0002g0072 a0001c0007t0002g0181	36	388	0.0928	-5	c.720 others(22): Show c.720+1947_720+1951delTTTTT	CTPS1	ENSG00000171793.17	transcript	ENST00000650070.2	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTPS1_chr1_40974696_41017565	41000215	ATGTTT ATGTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(248): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0002c0005t0004 a0002c0005t0009	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(167): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0003g0006 a0001c0001t0003g0050 a0001c0001t0003g0074 a0001c0001t0003g0103 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0004g0033 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0222 a0001c0001t0006g0030 a0001c0001t0006g0097 a0001c0001t0008g0054 a0001c0001t0012g0121 a0001c0001t0013g0152 a0001c0002t0001g0023 a0001c0002t0001g0101 a0001c0002t0001g0125 a0001c0002t0001g0252 a0001c0002t0003g0128 a0001c0002t0003g0186 a0001c0003t0001g0027 a0001c0003t0001g0082 a0002c0005t0004g0042 a0002c0005t0009g0042	251	388	0.6469	-5	c.100 others(22): Show c.1006-773_1006-769delTGTTT	CTPS1	ENSG00000171793.17	transcript	ENST00000650070.2	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTPS2_chrX_16582999_16717669	16590221	GTTTTA GTTTTA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG00735.hp2 others(27): Show HG00609.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG02004.hp2 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02698.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03486.hp1 HG03540.hp1 NA18906.hp1 NA18969.hp2 NA19043.hp1 NA19065.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0018 others(27): Show a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0005g0051 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0071 a0001c0002t0002g0188	30	226	0.1327	-5	c.42 others(20): Show c.42-451_*42-447delTAAAA	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	18/18			chrX	TogoVar
CTPS2_chrX_16582999_16717669	16601572	CGGGGG CGGGGG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	226	0.0044	-5	c.169 others(24): Show c.1691+7964_1691+7968delCCCCC	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	17/18			chrX	TogoVar
CTPS2_chrX_16582999_16717669	16705347	CTGATT CTGATT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	226	0.0044	-5	c.-39 others(22): Show c.-39-2411_-39-2407delAATCA	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	1/18			chrX	TogoVar
CTR9_chr11_10746246_10784746	10747231	TAATTA TAATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01071.hp1 others(26): Show HG00099.hp2 HG00735.hp1 HG01071.hp1 HG01099.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02145.hp2 HG02293.hp1 HG02300.hp1 HG02602.hp2 HG02698.hp1 HG02738.hp2 HG02818.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp2 HG03471.hp1 HG03654.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0003t0001g0012 a0001c0003t0001g0045 a0001c0003t0001g0201 a0001c0003t0002g0181 a0001c0003t0002g0183	29	406	0.0714	-5	c.-41 others(16): Show c.-4181_-4177delAATTA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		4014		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747274	AATATT AATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02258.hp1 others(12): Show HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02647.hp2 HG02723.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03516.hp1 NA18906.hp1 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0006 a0004c0011	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0003 a0002c0006t0001 a0004c0011t0006	a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0003t0001g0122 others(9): Show a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0003t0001g0122 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0205 a0001c0003t0002g0025 a0001c0003t0002g0192 a0001c0004t0003g0042 a0001c0004t0003g0156 a0002c0006t0001g0032 a0004c0011t0006g0076	15	406	0.0370	-5	c.-41 others(16): Show c.-4138_-4134delATATT	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3971		chr11	TogoVar
CTR9_chr11_10746246_10784746	10747301	TTTATA TTTATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02630.hp2 HG02257.hp2 HG02630.hp1 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0002 a0001c0007t0001 a0001c0003t0002 a0001c0007t0001	a0001c0003t0002g0188 a0001c0007t0001g0195 a0001c0007t0001g0196 a0001c0003t0002g0188 a0001c0007t0001g0195 a0001c0007t0001g0196	3	406	0.0074	-5	c.-41 others(16): Show c.-4111_-4107delTTATA	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		3944		chr11	TogoVar
CTR9_chr11_10746246_10784746	10782656	TTTTTG TTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03209.hp1 NA18906.hp1 HG02145.hp1 HG03209.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0001 a0002c0006t0001 a0001c0003t0001 a0002c0006t0001	a0001c0003t0001g0186 a0002c0006t0001g0032 a0001c0003t0001g0186 a0002c0006t0001g0032	3	406	0.0074	-5	c.35 others(16): Show c.3552_*3556delTTTTG	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		2911		chr11	TogoVar
CTR9_chr11_10746246_10784746	10782681	GTTTTT GTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01943.hp2 HG02109.hp1 others(15): Show HG00741.hp2 HG01943.hp2 HG02109.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0126 a0001c0003t0001g0019 a0001c0003t0001g0033 others(10): Show a0001c0001t0001g0126 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0108 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0205	18	406	0.0443	-5	c.35 others(16): Show c.3577_*3581delTTTTT	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding		2936		chr11	TogoVar
CTRC_chr1_15433443_15454242	15449501	AGAAGG AGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01884.hp1 HG02647.hp2 others(2): Show HG00642.hp2 HG01884.hp1 HG02647.hp2 HG03209.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0012 a0002c0004t0023 a0001c0001t0012 a0002c0004t0023	a0001c0001t0012g0017 a0002c0004t0023g0041 a0001c0001t0012g0017 a0002c0004t0023g0041	5	428	0.0117	-5	c.29 others(16): Show c.2913_*2917delGAAGG	CTRC	ENSG00000162438.12	transcript	ENST00000375949.5	protein_coding		260		chr1	TogoVar
CTSB_chr8_11837524_11873087	11839668	TAAAAA TAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01071.hp2 others(12): Show HG00099.hp2 HG00741.hp2 HG01071.hp2 HG01496.hp1 HG01496.hp2 HG02630.hp2 HG02647.hp1 HG02738.hp2 HG03704.hp1 HG03834.hp1 NA19043.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0004c0005	a0001c0001t0007 a0002c0002t0004 a0002c0006t0041 others(5): Show a0001c0001t0007 a0002c0002t0004 a0002c0006t0041 a0004c0005t0004 a0004c0005t0030 a0004c0005t0050 a0004c0005t0053 a0004c0005t0092	a0001c0001t0007g0202 a0001c0001t0007g0220 a0001c0001t0007g0362 others(12): Show a0001c0001t0007g0202 a0001c0001t0007g0220 a0001c0001t0007g0362 a0002c0002t0004g0168 a0002c0006t0041g0080 a0002c0006t0041g0279 a0004c0005t0004g0184 a0004c0005t0004g0185 a0004c0005t0004g0189 a0004c0005t0004g0203 a0004c0005t0030g0206 a0004c0005t0030g0207 a0004c0005t0050g0204 a0004c0005t0053g0209 a0004c0005t0092g0369	15	438	0.0343	-5	c.54 others(16): Show c.5452_*5456delTTTTT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding		2855		chr8	TogoVar
CTSB_chr8_11837524_11873087	11839989	ACTCTT ACTCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG03098.hp2 others(3): Show HG02717.hp1 HG02723.hp1 HG03098.hp2 HG03225.hp1 HG03540.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0018 a0002c0002t0018 a0002c0002t0049 a0001c0003t0018 a0002c0002t0018 a0002c0002t0049	a0001c0003t0018g0169 a0001c0003t0018g0256 a0002c0002t0018g0160 others(3): Show a0001c0003t0018g0169 a0001c0003t0018g0256 a0002c0002t0018g0160 a0002c0002t0018g0200 a0002c0002t0049g0372 a0002c0002t0049g0374	6	438	0.0137	-5	c.51 others(16): Show c.5131_*5135delAAGAG	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding		2534		chr8	TogoVar
CTSB_chr8_11837524_11873087	11850437	AAAAAG AAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02280.hp2 HG02559.hp1 others(17): Show HG01175.hp1 HG02280.hp2 HG02559.hp1 HG02809.hp2 HG02818.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03669.hp2 HG03942.hp2 HG04184.hp1 NA18947.hp1 NA18949.hp1 NA18970.hp1 NA18982.hp2 NA18989.hp2 NA18990.hp1 NA19063.hp1 NA19080.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0012	a0002c0002 a0003c0009 a0003c0011 others(2): Show a0002c0002 a0003c0009 a0003c0011 a0004c0005 a0012c0021	a0002c0002t0001 a0002c0002t0013 a0002c0002t0022 others(7): Show a0002c0002t0001 a0002c0002t0013 a0002c0002t0022 a0002c0002t0023 a0002c0002t0066 a0003c0009t0024 a0003c0011t0094 a0003c0011t0095 a0004c0005t0004 a0012c0021t0001	a0002c0002t0001g0060 a0002c0002t0001g0089 a0002c0002t0001g0102 others(17): Show a0002c0002t0001g0060 a0002c0002t0001g0089 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0148 a0002c0002t0013g0114 a0002c0002t0022g0275 a0002c0002t0023g0029 a0002c0002t0023g0030 a0002c0002t0023g0031 a0002c0002t0066g0090 a0003c0009t0024g0194 a0003c0009t0024g0195 a0003c0011t0094g0375 a0003c0011t0095g0370 a0004c0005t0004g0216 a0012c0021t0001g0135	20	438	0.0457	-5	c.327 others(20): Show c.327+424_327+428delCTTTT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding	4/9			chr8	TogoVar
CTSC_chr11_88288592_88342736	88290790	AAAGAT AAAGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02886.hp2 others(2): Show HG02055.hp2 HG02109.hp2 HG02886.hp2 HG03453.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0022 a0002c0002t0001g0311 a0002c0002t0001g0312	5	434	0.0115	-5	c.32 others(16): Show c.3211_*3215delATCTT	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2801		chr11	TogoVar
CTSC_chr11_88288592_88342736	88302625	CAAAAA CAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(257): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0004c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0004t0001 a0001c0006t0001 a0002c0002t0001 a0004c0005t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(178): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0002g0048 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0004g0047 a0001c0001t0005g0056 a0001c0001t0006g0172 a0001c0001t0007g0317 a0001c0004t0001g0094 a0001c0006t0001g0089 a0002c0002t0001g0022 a0002c0002t0001g0109 a0002c0002t0001g0312 a0004c0005t0001g0248 a0005c0007t0001g0313	260	434	0.5991	-5	c.642 others(22): Show c.642-1985_642-1981delTTTTT	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	4/6			chr11	TogoVar
CTSC_chr11_88288592_88342736	88308472	ATTATT ATTATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(203): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0004c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0004t0001 a0002c0002t0001 a0004c0005t0001 a0005c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(155): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0093 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0004g0047 a0001c0001t0005g0056 a0001c0001t0006g0172 a0001c0001t0007g0317 a0001c0004t0001g0094 a0002c0002t0001g0022 a0002c0002t0001g0311 a0002c0002t0001g0312 a0004c0005t0001g0248 a0005c0007t0001g0313	206	434	0.4747	-5	c.641 others(20): Show c.641+686_641+690delAATAA	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	4/6			chr11	TogoVar
CTSC_chr11_88288592_88342736	88329455	CAAAAA CAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00544.hp2 others(73): Show HG00099.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02083.hp1 HG02257.hp2 HG02273.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03491.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18943.hp2 NA18947.hp2 NA18951.hp1 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp1 NA19001.hp1 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19078.hp1 NA19087.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0180 a0001c0001t0001g0217 a0001c0001t0001g0237 a0001c0001t0001g0284 a0001c0006t0001g0089	76	434	0.1751	-5	c.318 others(22): Show c.318+5477_318+5481delTTTTT	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	2/6			chr11	TogoVar
CTSG_chr14_24568518_24581250	24569576	TTAGAC TTAGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA19030.hp2 NA21309.hp1 NA18522.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	3	440	0.0068	-5	c.40 others(16): Show c.4056_*4060delGTCTA	CTSG	ENSG00000100448.4	transcript	ENST00000216336.3	protein_coding		3941		chr14	TogoVar
CTSH_chr15_78916058_78950046	78928564	CAAAAA CAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02109.hp2 HG02559.hp1 others(5): Show HG01515.hp1 HG02109.hp2 HG02559.hp1 HG02896.hp1 NA18988.hp2 NA19054.hp2 NA19074.hp1 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0007	a0001c0001t0004g0165 a0001c0002t0001g0091 a0001c0002t0001g0255 others(5): Show a0001c0001t0004g0165 a0001c0002t0001g0091 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0003g0078 a0003c0004t0004g0061 a0003c0004t0005g0054 a0003c0004t0007g0048	8	414	0.0193	-5	c.631 others(20): Show c.631-788_631-784delTTTTT	CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding	8/11			chr15	TogoVar

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