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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CDS2_chr20_5122008_5202887	5189727	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp2 HG01258.hp1 HG02132.hp2 others(15): Show HG01074.hp2 HG01258.hp1 HG02132.hp2 HG02145.hp1 HG02280.hp2 HG02572.hp2 HG02818.hp2 HG02886.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0064 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0064 a0001c0001t0066 a0001c0001t0069	a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0027 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0191 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0064g0185 a0001c0001t0066g0017 a0001c0001t0069g0204	18	348	0.0517	0	c.110 others(6): Show c.1102-8T>G		CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding	11/12					chr20	TogoVar
CDS2_chr20_5122008_5202887	5189846	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0074 a0001c0001t0061g0074	1	348	0.0029	0	c.120 others(6): Show c.1205+8A>G		CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding	12/12					chr20	TogoVar
CDT1_chr16_88798789_88814258	88804538	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0033 a0001c0019t0003g0033	1	444	0.0023	0	c.229 others(5): Show c.229-7C>G		CDT1	ENSG00000167513.9	transcript	ENST00000301019.9	protein_coding	1/9					chr16	TogoVar
CEACAM16_chr19_44694151_44715718	44699258	G G	A A	splice_region_variant splice_region_variant	LOW	HG02257.hp2 HG02886.hp1 HG02922.hp1 others(1): Show HG02257.hp2 HG02886.hp1 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	4	450	0.0089	0	c.-99 others(3): Show c.-99G>A		CEACAM16	ENSG00000213892.12	transcript	ENST00000587331.7	protein_coding	1/7					chr19	TogoVar
CEACAM16_chr19_44694151_44715718	44701353	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0080 a0002c0004t0001g0080	1	450	0.0022	0	c.-96 others(5): Show c.-96-8C>G		CEACAM16	ENSG00000213892.12	transcript	ENST00000587331.7	protein_coding	1/6					chr19	TogoVar
CEACAM18_chr19_51473539_51496301	51478692	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01070.hp2 HG01256.hp1 HG01256.hp2 others(5): Show HG01070.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG02735.hp2 HG03130.hp1 NA19058.hp2 NA20905.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0004 a0007c0006t0006 others(1): Show a0007c0006t0001 a0007c0006t0004 a0007c0006t0006 a0007c0006t0009	a0007c0006t0001g0024 a0007c0006t0004g0024 a0007c0006t0004g0040 others(5): Show a0007c0006t0001g0024 a0007c0006t0004g0024 a0007c0006t0004g0040 a0007c0006t0004g0042 a0007c0006t0006g0025 a0007c0006t0009g0025 a0007c0006t0009g0041 a0007c0006t0009g0095	8	420	0.0191	0	c.50T others(2): Show c.50T>C	p.Met others(5): Show p.Met17Thr	CEACAM18	ENSG00000213822.7	transcript	ENST00000396477.5	protein_coding	1/6	154/1908	50/1155	17/384		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44523980	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp2 HG03139.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0233 a0011c0014t0001g0233	1	438	0.0023	0	c.472 others(5): Show c.472+6T>C		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	3/11					chr19	TogoVar
CEACAM21_chr19_41571166_41591844	41579348	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02280.hp2 HG02109.hp1 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0036 a0002c0003t0001g0036	2	393	0.0051	0	c.425 others(5): Show c.425-5C>T		CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding	2/6					chr19	TogoVar
CEACAM21_chr19_41571166_41591844	41585445	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03471.hp1 HG03540.hp1 HG03471.hp1 HG03540.hp1	a0010 a0012 a0010 a0012	a0010c0010 a0012c0016 a0010c0010 a0012c0016	a0010c0010t0001 a0012c0016t0001 a0010c0010t0001 a0012c0016t0001	a0010c0010t0001g0060 a0012c0016t0001g0016 a0010c0010t0001g0060 a0012c0016t0001g0016	2	393	0.0051	0	c.800 others(3): Show c.800C>T	p.Ala others(6): Show p.Ala267Val	CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding	5/7	909/1372	800/882	267/293		chr19	TogoVar
CEACAM3_chr19_41791587_41816554	41808937	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	416	0.0048	0	c.542 others(5): Show c.542+7C>T		CEACAM3	ENSG00000170956.17	transcript	ENST00000357396.8	protein_coding	3/6					chr19	TogoVar
CEACAM4_chr19_41614015_41632074	41619716	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00597.hp2 HG00642.hp1 others(135): Show HG00140.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01346.hp1 HG01891.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0015 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0004c0005t0002 a0005c0009t0004	a0001c0001t0001g0043 a0001c0001t0001g0130 a0001c0001t0001g0140 others(74): Show a0001c0001t0001g0043 a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0105 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0010g0143 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0083 a0001c0002t0001g0112 a0001c0002t0001g0119 a0001c0002t0001g0159 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0002g0012 a0001c0002t0002g0023 a0001c0002t0002g0101 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0115 a0001c0002t0004g0255 a0001c0002t0004g0258 a0001c0002t0004g0260 a0001c0002t0004g0262 a0001c0002t0004g0264 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0006g0084 a0001c0002t0006g0154 a0001c0002t0006g0157 a0001c0002t0009g0063 a0001c0002t0015g0267 a0002c0003t0001g0174 a0002c0003t0001g0177 a0002c0003t0001g0197 a0002c0003t0001g0202 a0002c0003t0001g0209 a0002c0003t0001g0212 a0002c0003t0001g0235 a0002c0003t0001g0241 a0002c0003t0002g0024 a0002c0003t0002g0026 a0002c0003t0002g0054 a0002c0003t0002g0163 a0002c0003t0002g0183 a0002c0003t0002g0190 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0006g0055 a0002c0003t0006g0248 a0004c0005t0002g0133 a0004c0005t0002g0153 a0005c0009t0004g0268	138	437	0.3158	0	c.628 others(5): Show c.628-5C>T		CEACAM4	ENSG00000105352.11	transcript	ENST00000221954.7	protein_coding	5/6					chr19	TogoVar
CEACAM7_chr19_41668303_41693270	41677501	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp2 HG01891.hp1 HG02559.hp1 others(3): Show HG01884.hp2 HG01891.hp1 HG02559.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0007 a0003c0004t0001 a0003c0004t0007	a0003c0004t0001g0138 a0003c0004t0007g0047 a0003c0004t0007g0139 others(2): Show a0003c0004t0001g0138 a0003c0004t0007g0047 a0003c0004t0007g0139 a0003c0004t0007g0140 a0003c0004t0007g0141	6	412	0.0146	0	c.709 others(3): Show c.709G>A	p.Glu others(6): Show p.Glu237Lys	CEACAM7	ENSG00000007306.15	transcript	ENST00000401731.6	protein_coding	4/5	814/2376	709/798	237/265		chr19	TogoVar
CEACAM7_chr19_41668303_41693270	41683785	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp2 HG01891.hp1 HG02055.hp1 others(12): Show HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02559.hp1 HG02630.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03516.hp2 NA19030.hp2 NA19043.hp2 NA20300.hp1 NA20300.hp2	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0009	a0003c0004 a0004c0005 a0005c0006 others(1): Show a0003c0004 a0004c0005 a0005c0006 a0009c0010	a0003c0004t0001 a0003c0004t0007 a0004c0005t0006 others(2): Show a0003c0004t0001 a0003c0004t0007 a0004c0005t0006 a0005c0006t0008 a0009c0010t0008	a0003c0004t0001g0138 a0003c0004t0007g0047 a0003c0004t0007g0139 others(9): Show a0003c0004t0001g0138 a0003c0004t0007g0047 a0003c0004t0007g0139 a0003c0004t0007g0140 a0003c0004t0007g0141 a0004c0005t0006g0044 a0004c0005t0006g0113 a0004c0005t0006g0114 a0004c0005t0006g0115 a0005c0006t0008g0030 a0005c0006t0008g0057 a0009c0010t0008g0056	15	412	0.0364	0	c.706 others(3): Show c.706T>C	p.Tyr others(6): Show p.Tyr236His	CEACAM7	ENSG00000007306.15	transcript	ENST00000401731.6	protein_coding	3/5	811/2376	706/798	236/265		chr19	TogoVar
CEACAM7_chr19_41668303_41693270	41686860	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18966.hp2 NA19060.hp1 NA18966.hp2 NA19060.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0037 a0006c0007t0001g0037	2	412	0.0049	0	c.426 others(3): Show c.426C>A	p.Phe others(6): Show p.Phe142Leu	CEACAM7	ENSG00000007306.15	transcript	ENST00000401731.6	protein_coding	2/5	531/2376	426/798	142/265		chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42589734	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0145 a0002c0008t0002g0145	1	314	0.0032	0	c.426 others(3): Show c.426G>A	p.Pro others(6): Show p.Pro142Pro	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	3/6	522/2297	426/1050	142/349		chr19	TogoVar
CEBPG_chr19_33368709_33387686	33379131	AT AT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02572.hp2 HG03453.hp1 others(2): Show HG02258.hp2 HG02572.hp2 HG03453.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0009 a0001c0001t0015	a0001c0001t0009g0009 a0001c0001t0015g0009 a0001c0001t0009g0009 a0001c0001t0015g0009	5	436	0.0115	-1	c.-96 others(6): Show c.-96-7delT		CEBPG	ENSG00000153879.9	transcript	ENST00000284000.9	protein_coding	1/1				INFO_REALIGN_3_PRIME	chr19	TogoVar
CECR2_chr22_17364460_17563151	17511904	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0114 a0001c0001t0013g0114	1	324	0.0031	0	c.954 others(5): Show c.954+8T>C		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	8/18					chr22	TogoVar
CECR2_chr22_17364460_17563151	17524110	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02895.hp1 HG02559.hp2 HG02895.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0197 a0004c0004t0006g0268 a0004c0004t0006g0197 a0004c0004t0006g0268	2	324	0.0062	0	c.955 others(5): Show c.955-8C>T		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	8/18					chr22	TogoVar
CECR2_chr22_17364460_17563151	17548128	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp2 HG00642.hp1 HG01109.hp2 others(5): Show HG00621.hp2 HG00642.hp1 HG01109.hp2 HG02486.hp2 HG02647.hp1 HG03239.hp1 HG03688.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0024	a0001c0001t0001g0035 a0001c0001t0002g0234 a0001c0001t0003g0203 others(5): Show a0001c0001t0001g0035 a0001c0001t0002g0234 a0001c0001t0003g0203 a0001c0001t0005g0241 a0001c0001t0010g0014 a0001c0001t0011g0171 a0001c0001t0018g0310 a0001c0001t0024g0276	8	324	0.0247	1	c.286 others(7): Show c.2861-5dupT		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	16/18				INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17548128	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(169): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18962.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0014	a0001c0001 a0001c0008 a0001c0009 others(11): Show a0001c0001 a0001c0008 a0001c0009 a0001c0013 a0001c0017 a0002c0002 a0003c0003 a0003c0025 a0004c0004 a0005c0005 a0006c0007 a0007c0011 a0009c0026 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(73): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0057 a0001c0001t0058 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0073 a0001c0008t0036 a0001c0008t0083 a0001c0009t0048 a0001c0009t0075 a0001c0013t0001 a0001c0017t0047 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0018 a0002c0002t0021 a0002c0002t0022 a0002c0002t0027 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0065 a0002c0002t0066 a0002c0002t0082 a0002c0002t0084 a0003c0003t0001 a0003c0003t0007 a0003c0003t0062 a0003c0025t0007 a0004c0004t0006 a0004c0004t0012 a0004c0004t0017 a0004c0004t0020 a0004c0004t0026 a0004c0004t0033 a0004c0004t0059 a0005c0005t0016 a0006c0007t0001 a0006c0007t0008 a0007c0011t0007 a0009c0026t0013 a0014c0021t0050	a0001c0001t0001g0023 a0001c0001t0001g0053 a0001c0001t0001g0063 others(169): Show a0001c0001t0001g0023 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0156 a0001c0001t0001g0169 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0002g0057 a0001c0001t0002g0070 a0001c0001t0002g0080 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0235 a0001c0001t0003g0019 a0001c0001t0003g0041 a0001c0001t0003g0161 a0001c0001t0003g0186 a0001c0001t0003g0202 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0004g0074 a0001c0001t0004g0167 a0001c0001t0004g0179 a0001c0001t0005g0157 a0001c0001t0006g0003 a0001c0001t0006g0311 a0001c0001t0006g0319 a0001c0001t0007g0260 a0001c0001t0008g0008 a0001c0001t0008g0299 a0001c0001t0008g0304 a0001c0001t0009g0094 a0001c0001t0009g0101 a0001c0001t0009g0134 a0001c0001t0009g0135 a0001c0001t0009g0168 a0001c0001t0009g0187 a0001c0001t0009g0249 a0001c0001t0010g0002 a0001c0001t0013g0090 a0001c0001t0014g0071 a0001c0001t0014g0119 a0001c0001t0015g0166 a0001c0001t0015g0180 a0001c0001t0017g0312 a0001c0001t0020g0048 a0001c0001t0020g0051 a0001c0001t0021g0317 a0001c0001t0022g0309 a0001c0001t0025g0013 a0001c0001t0025g0297 a0001c0001t0027g0238 a0001c0001t0028g0196 a0001c0001t0028g0255 a0001c0001t0029g0252 a0001c0001t0039g0278 a0001c0001t0040g0283 a0001c0001t0042g0322 a0001c0001t0057g0245 a0001c0001t0058g0292 a0001c0001t0067g0033 a0001c0001t0068g0150 a0001c0001t0069g0265 a0001c0001t0073g0158 a0001c0008t0036g0015 a0001c0008t0083g0047 a0001c0009t0048g0273 a0001c0009t0075g0195 a0001c0013t0001g0122 a0001c0017t0047g0295 a0002c0002t0001g0078 a0002c0002t0001g0162 a0002c0002t0001g0175 a0002c0002t0001g0184 a0002c0002t0002g0036 a0002c0002t0002g0081 a0002c0002t0002g0092 a0002c0002t0002g0189 a0002c0002t0002g0224 a0002c0002t0003g0018 a0002c0002t0003g0020 a0002c0002t0003g0032 a0002c0002t0003g0045 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0082 a0002c0002t0003g0110 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0003g0145 a0002c0002t0003g0201 a0002c0002t0003g0218 a0002c0002t0003g0233 a0002c0002t0003g0250 a0002c0002t0004g0111 a0002c0002t0004g0146 a0002c0002t0005g0060 a0002c0002t0005g0140 a0002c0002t0005g0149 a0002c0002t0005g0188 a0002c0002t0005g0232 a0002c0002t0006g0004 a0002c0002t0006g0010 a0002c0002t0006g0302 a0002c0002t0006g0303 a0002c0002t0006g0320 a0002c0002t0008g0298 a0002c0002t0008g0305 a0002c0002t0009g0206 a0002c0002t0011g0095 a0002c0002t0012g0031 a0002c0002t0012g0100 a0002c0002t0012g0153 a0002c0002t0014g0025 a0002c0002t0014g0208 a0002c0002t0018g0281 a0002c0002t0021g0323 a0002c0002t0022g0274 a0002c0002t0027g0133 a0002c0002t0053g0272 a0002c0002t0054g0306 a0002c0002t0055g0039 a0002c0002t0056g0083 a0002c0002t0065g0217 a0002c0002t0066g0030 a0002c0002t0082g0091 a0002c0002t0084g0152 a0003c0003t0001g0142 a0003c0003t0001g0214 a0003c0003t0001g0251 a0003c0003t0007g0073 a0003c0003t0007g0154 a0003c0003t0007g0155 a0003c0003t0007g0209 a0003c0003t0007g0212 a0003c0003t0007g0244 a0003c0003t0062g0220 a0003c0025t0007g0088 a0004c0004t0006g0197 a0004c0004t0006g0268 a0004c0004t0012g0144 a0004c0004t0017g0006 a0004c0004t0017g0313 a0004c0004t0020g0286 a0004c0004t0026g0267 a0004c0004t0026g0284 a0004c0004t0033g0282 a0004c0004t0059g0191 a0005c0005t0016g0028 a0005c0005t0016g0181 a0006c0007t0001g0210 a0006c0007t0008g0277 a0007c0011t0007g0143 a0009c0026t0013g0072 a0014c0021t0050g0005	172	324	0.5309	-1	c.286 others(7): Show c.2861-5delT		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	16/18				INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17548143	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0307 a0001c0001t0018g0307	1	324	0.0031	0	c.286 others(6): Show c.2861-5T>G		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	16/18					chr22	TogoVar
CELA1_chr12_51323442_51351679	51329684	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0081 a0002c0009t0002g0081	1	406	0.0025	0	c.759 others(3): Show c.759T>C	p.Asn others(6): Show p.Asn253Asn	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	7/8	800/953	759/777	253/258		chr12	TogoVar
CELA1_chr12_51323442_51351679	51341238	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(174): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18992.hp2 NA18994.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0007	a0001c0001 a0003c0005 a0005c0014 others(2): Show a0001c0001 a0003c0005 a0005c0014 a0006c0011 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0003c0005t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0003c0005t0001 a0005c0014t0001 a0006c0011t0001 a0007c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(103): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0002g0154 a0003c0005t0001g0058 a0005c0014t0001g0224 a0006c0011t0001g0149 a0007c0012t0001g0180	177	406	0.4360	0	c.463 others(5): Show c.463+6T>A		CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	5/7					chr12	TogoVar
CELA1_chr12_51323442_51351679	51346603	ACTGGACC others(6): Show ACTGGACCATATCC	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0002c0004 others(5): Show a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0003c0005	a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 others(6): Show a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0006t0001 a0002c0007t0002 a0002c0009t0002 a0002c0010t0002 a0003c0005t0001	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 others(115): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0073 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0003t0001g0002 a0002c0003t0001g0044 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0002g0011 a0002c0003t0002g0036 a0002c0003t0002g0074 a0002c0003t0002g0088 a0002c0003t0002g0089 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0002g0094 a0002c0004t0002g0006 a0002c0004t0002g0008 a0002c0004t0002g0017 a0002c0004t0002g0021 a0002c0004t0002g0028 a0002c0004t0002g0031 a0002c0004t0002g0033 a0002c0004t0002g0034 a0002c0004t0002g0035 a0002c0004t0002g0054 a0002c0004t0002g0079 a0002c0004t0002g0080 a0002c0004t0002g0082 a0002c0004t0002g0084 a0002c0004t0002g0085 a0002c0004t0002g0086 a0002c0004t0002g0087 a0002c0004t0002g0092 a0002c0004t0002g0093 a0002c0006t0001g0016 a0002c0006t0001g0071 a0002c0006t0001g0072 a0002c0007t0002g0032 a0002c0007t0002g0078 a0002c0009t0002g0081 a0002c0010t0002g0083 a0003c0005t0001g0010 a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0029 a0003c0005t0001g0030 a0003c0005t0001g0055 a0003c0005t0001g0056 a0003c0005t0001g0057 a0003c0005t0001g0058 a0003c0005t0001g0059 a0003c0005t0001g0060 a0003c0005t0001g0061 a0003c0005t0001g0062 a0003c0005t0001g0063 a0003c0005t0001g0064 a0003c0005t0001g0065 a0003c0005t0001g0066 a0003c0005t0001g0067 a0003c0005t0001g0068 a0003c0005t0001g0069 a0003c0005t0001g0070	211	406	0.5197	-13	c.16+ others(23): Show c.16+7_16+19delGGATATGGTCCAG		CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	1/7					chr12	TogoVar
CELA1_chr12_51323442_51351679	51346618	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0002c0004 others(5): Show a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0003c0005	a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 others(6): Show a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0006t0001 a0002c0007t0002 a0002c0009t0002 a0002c0010t0002 a0003c0005t0001	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 others(115): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0073 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0003t0001g0002 a0002c0003t0001g0044 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0002g0011 a0002c0003t0002g0036 a0002c0003t0002g0074 a0002c0003t0002g0088 a0002c0003t0002g0089 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0002g0094 a0002c0004t0002g0006 a0002c0004t0002g0008 a0002c0004t0002g0017 a0002c0004t0002g0021 a0002c0004t0002g0028 a0002c0004t0002g0031 a0002c0004t0002g0033 a0002c0004t0002g0034 a0002c0004t0002g0035 a0002c0004t0002g0054 a0002c0004t0002g0079 a0002c0004t0002g0080 a0002c0004t0002g0082 a0002c0004t0002g0084 a0002c0004t0002g0085 a0002c0004t0002g0086 a0002c0004t0002g0087 a0002c0004t0002g0092 a0002c0004t0002g0093 a0002c0006t0001g0016 a0002c0006t0001g0071 a0002c0006t0001g0072 a0002c0007t0002g0032 a0002c0007t0002g0078 a0002c0009t0002g0081 a0002c0010t0002g0083 a0003c0005t0001g0010 a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0029 a0003c0005t0001g0030 a0003c0005t0001g0055 a0003c0005t0001g0056 a0003c0005t0001g0057 a0003c0005t0001g0058 a0003c0005t0001g0059 a0003c0005t0001g0060 a0003c0005t0001g0061 a0003c0005t0001g0062 a0003c0005t0001g0063 a0003c0005t0001g0064 a0003c0005t0001g0065 a0003c0005t0001g0066 a0003c0005t0001g0067 a0003c0005t0001g0068 a0003c0005t0001g0069 a0003c0005t0001g0070	211	406	0.5197	-2	c.16+ others(11): Show c.16+3_16+4delAA		CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	1/7					chr12	TogoVar
CELA1_chr12_51323442_51351679	51346625	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0002c0004 others(5): Show a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0003c0005	a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 others(6): Show a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0006t0001 a0002c0007t0002 a0002c0009t0002 a0002c0010t0002 a0003c0005t0001	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 others(115): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0018 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0073 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0003t0001g0002 a0002c0003t0001g0044 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0002g0011 a0002c0003t0002g0036 a0002c0003t0002g0074 a0002c0003t0002g0088 a0002c0003t0002g0089 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0002g0094 a0002c0004t0002g0006 a0002c0004t0002g0008 a0002c0004t0002g0017 a0002c0004t0002g0021 a0002c0004t0002g0028 a0002c0004t0002g0031 a0002c0004t0002g0033 a0002c0004t0002g0034 a0002c0004t0002g0035 a0002c0004t0002g0054 a0002c0004t0002g0079 a0002c0004t0002g0080 a0002c0004t0002g0082 a0002c0004t0002g0084 a0002c0004t0002g0085 a0002c0004t0002g0086 a0002c0004t0002g0087 a0002c0004t0002g0092 a0002c0004t0002g0093 a0002c0006t0001g0016 a0002c0006t0001g0071 a0002c0006t0001g0072 a0002c0007t0002g0032 a0002c0007t0002g0078 a0002c0009t0002g0081 a0002c0010t0002g0083 a0003c0005t0001g0010 a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0029 a0003c0005t0001g0030 a0003c0005t0001g0055 a0003c0005t0001g0056 a0003c0005t0001g0057 a0003c0005t0001g0058 a0003c0005t0001g0059 a0003c0005t0001g0060 a0003c0005t0001g0061 a0003c0005t0001g0062 a0003c0005t0001g0063 a0003c0005t0001g0064 a0003c0005t0001g0065 a0003c0005t0001g0066 a0003c0005t0001g0067 a0003c0005t0001g0068 a0003c0005t0001g0069 a0003c0005t0001g0070	211	406	0.5197	0	c.14A others(2): Show c.14A>C	p.Tyr others(4): Show p.Tyr5Ser	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	1/8	55/953	14/777	5/258		chr12	TogoVar
CELA2A_chr1_15451732_15477091	15456801	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0238 a0001c0004t0001g0238	1	430	0.0023	0	c.40+ others(4): Show c.40+8C>G		CELA2A	ENSG00000142615.8	transcript	ENST00000359621.5	protein_coding	1/7					chr1	TogoVar
CELA2A_chr1_15451732_15477091	15461556	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	430	0.0023	0	c.130 others(5): Show c.130-5C>T		CELA2A	ENSG00000142615.8	transcript	ENST00000359621.5	protein_coding	2/7					chr1	TogoVar
CELA2A_chr1_15451732_15477091	15467537	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18984.hp1 NA18984.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0002 a0006c0011t0001g0002	1	430	0.0023	0	c.791 others(3): Show c.791C>T	p.Ser others(6): Show p.Ser264Leu	CELA2A	ENSG00000142615.8	transcript	ENST00000359621.5	protein_coding	7/8	813/916	791/810	264/269		chr1	TogoVar
CELA3A_chr1_21996657_22017542	22001723	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00733.hp1 HG01099.hp1 HG00642.hp1 HG00733.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	3	419	0.0072	0	c.43+ others(4): Show c.43+6A>T		CELA3A	ENSG00000142789.20	transcript	ENST00000290122.8	protein_coding	1/7					chr1	TogoVar
CELA3B_chr1_21972022_21994354	21981030	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	444	0.0023	0	c.228 others(5): Show c.228-8G>A		CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding	3/7					chr1	TogoVar
CELA3B_chr1_21972022_21994354	21984181	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(340): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(7): Show a0001 a0003 a0005 a0007 a0008 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0003 a0001c0011 others(13): Show a0001c0001 a0001c0003 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0021 a0003c0004 a0005c0009 a0007c0016 a0008c0013 a0010c0020 a0011c0024 a0012c0023 a0013c0025 a0014c0022	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0015t0001 a0001c0021t0001 a0003c0004t0001 a0005c0009t0001 a0007c0016t0001 a0008c0013t0001 a0010c0020t0001 a0011c0024t0001 a0012c0023t0001 a0013c0025t0001 a0014c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(173): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0003g0031 a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0013 a0001c0003t0001g0026 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0041 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0132 a0001c0003t0001g0142 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0215 a0001c0011t0001g0024 a0001c0012t0001g0008 a0001c0014t0001g0014 a0001c0015t0001g0008 a0001c0015t0001g0179 a0001c0021t0001g0029 a0003c0004t0001g0038 a0003c0004t0001g0112 a0003c0004t0001g0114 a0003c0004t0001g0116 a0003c0004t0001g0121 a0003c0004t0001g0122 a0003c0004t0001g0125 a0003c0004t0001g0135 a0005c0009t0001g0003 a0007c0016t0001g0069 a0007c0016t0001g0097 a0008c0013t0001g0011 a0010c0020t0001g0209 a0011c0024t0001g0186 a0012c0023t0001g0214 a0013c0025t0001g0078 a0014c0022t0001g0109	343	444	0.7725	0	c.500 others(5): Show c.500-8C>T		CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding	5/7					chr1	TogoVar
CELA3B_chr1_21972022_21994354	21984331	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(349): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0003 others(10): Show a0000 a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014	a0000c0018 a0000c0019 a0001c0001 others(17): Show a0000c0018 a0000c0019 a0001c0001 a0001c0003 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0021 a0003c0004 a0004c0008 a0005c0009 a0006c0010 a0007c0016 a0008c0013 a0010c0020 a0011c0024 a0012c0023 a0013c0025 a0014c0022	a0000c0018t0002 a0000c0019t0002 a0001c0001t0001 others(18): Show a0000c0018t0002 a0000c0019t0002 a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0015t0001 a0001c0021t0001 a0003c0004t0001 a0004c0008t0001 a0005c0009t0001 a0006c0010t0001 a0007c0016t0001 a0008c0013t0001 a0010c0020t0001 a0011c0024t0001 a0012c0023t0001 a0013c0025t0001 a0014c0022t0001	a0000c0018t0002g0173 a0000c0019t0002g0174 a0001c0001t0001g0001 others(181): Show a0000c0018t0002g0173 a0000c0019t0002g0174 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0003g0031 a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0013 a0001c0003t0001g0026 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0041 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0132 a0001c0003t0001g0142 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0215 a0001c0011t0001g0024 a0001c0012t0001g0008 a0001c0014t0001g0014 a0001c0015t0001g0008 a0001c0015t0001g0179 a0001c0021t0001g0029 a0003c0004t0001g0038 a0003c0004t0001g0112 a0003c0004t0001g0114 a0003c0004t0001g0116 a0003c0004t0001g0121 a0003c0004t0001g0122 a0003c0004t0001g0125 a0003c0004t0001g0135 a0004c0008t0001g0027 a0004c0008t0001g0061 a0004c0008t0001g0062 a0005c0009t0001g0003 a0006c0010t0001g0056 a0006c0010t0001g0175 a0006c0010t0001g0176 a0007c0016t0001g0069 a0007c0016t0001g0097 a0008c0013t0001g0011 a0010c0020t0001g0209 a0011c0024t0001g0186 a0012c0023t0001g0214 a0013c0025t0001g0078 a0014c0022t0001g0109	352	444	0.7928	0	c.642 others(3): Show c.642T>C	p.Asn others(6): Show p.Asn214Asn	CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding	6/8	660/906	642/813	214/270		chr1	TogoVar
CELA3B_chr1_21972022_21994354	21986524	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00438.hp1 HG00597.hp2 others(57): Show HG00280.hp1 HG00438.hp1 HG00597.hp2 HG00733.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01361.hp1 HG01361.hp2 HG02080.hp2 HG02602.hp2 HG02615.hp2 HG02723.hp2 HG03130.hp1 HG03579.hp1 HG03710.hp2 HG03831.hp1 NA18906.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18965.hp2 NA18969.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp2 NA19009.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 others(2): Show a0001c0001 a0001c0003 a0001c0012 a0001c0015 a0001c0021	a0001c0001t0001 a0001c0003t0001 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0012t0001 a0001c0015t0001 a0001c0021t0001	a0001c0001t0001g0008 a0001c0001t0001g0177 a0001c0001t0001g0178 others(26): Show a0001c0001t0001g0008 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0013 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0041 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0132 a0001c0003t0001g0142 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0215 a0001c0012t0001g0008 a0001c0015t0001g0008 a0001c0015t0001g0179 a0001c0021t0001g0029	60	444	0.1351	0	c.643 others(5): Show c.643-7G>T		CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding	6/7					chr1	TogoVar
CELA3B_chr1_21972022_21994354	21989153	TCCTCTCC others(5194): Show TCCTCTCCCAGGGTCACACAGCAGGGCTGGAAGTTGAACCCAGTTTCATC TGACTCCAGAACCTGTGCTCCTAAATTGACTATTCTGTCTGCCCCCCCAA CTTTTCCAGACCATAGCAAGCCACTAGAACCAAGGCCCAGCTGGCAGTGC TGATCGATCCCACATCCTGAATAAAGAATAAAGATCTCTCAGAAAATTCC AAGTTGAATCTTTCTTTCTTTGTTGACTCACCTCTTCCCCTCTGGCCTGT TCCTAAAATCTTAGATCTCATATGCAGAGACAGGACCAGGTCCAACCCTT TCATACGAAGATGAGGGAAAAATGATGCTGGGAGAGAAGGGAGTTGCTGT GCGGTGACCTGACCATCCTGGTTTGCCTGGAACTTCAGGAGTGAAGACAC TGGACATTTAATGCTAAAACTGGGAAGGTACCAGGAAAAATGGGACAAGT TGGTCGCCTTAGTATATAGTCGCACATAAGTCAGTAGCTTTTCAATGCAG GCATATAAACATGGTAAAAATCTGCAGATAAACAGACCCTGCCAGCCCCT CAGCAGGCTCATGGTAGAGTGGGAAGGACAATGTGTGATCTGCTTCCACT GATGGGCTGGGGGCTTTGGTTATTCATTCATTCAACAAACACTTATTCCT TGTTTTAAAGGAGGGCTCAGAGGGGTAAGGAGACATGGTTCCTGCCCTGA AGTGACTCATTATTTAAAGATAGCTCTCTTAGTCTGTGTTCATACTGCTA TAAAGAACTGCCCGAGACTGGGTAGTTTATAAAGGAAAGAAGTGTAATTG ACTCACAGTTCAGCATGGCTGGGGAGGCCTCAGGAAACTTAAAATCATGG TGGAAGATGAAGGGGAAGCAAGGGACCTTCTTTACAAGGTGGCAGGAAGG AAAATTGCCTAGCAAAGGGGGAAGAGCCCCTTATAAAACCATCAGATCTG GCGAGAACTCACTCACTATCATGAGAACAGCATGGGGGAACCGCCCTATG ATTCAATTACCTTCTCCCTTGACACATGGCGATTATGGGGATTACAATTC AAGGTGAGATTTGGGTGGGGACACAAAGCCTAACCATGTCATGAGCATAT CACGGTCATTCATTAAACATGTATTAGGTACCTGCCTTGTGGCAAGTTCA GGGCTGGAAAAACAGAGACAAGTCAGGCAACCCTAGGAAGAGCCCTTACT GAAGGGGGGAGAAGACACACACACAGGTACACAGGTATACACACACAGGT ACACACAATGCTGCGCACGAGCCCAGAGCCAGCAAACAGTTGAGTTTTGA AAGGAAGAACGCTGGCCAGGTGCAGTAGCTCATGCTTGTAATCCTAGCAC TTTGGGAGGCTGAGGCAGGTAGATCAACTGAGGTCACGAGTTCGAAACTC CTTCTTAAAAAAAAAAAAGAATGCTGTTACACAGACAAAAGCAACATAAA ACAAGGGAGTCTGGCTGGGCCTGGTGGTTCATACTTGTAATCCCAGCACT TTGGGAGGCCAGGGTGGGTGGATCACTTGAGCCCACGAGTTTGAGACCAG CCTGGGAAACATGGTAAAACCCCATCTCTACAAAAAACATAAAAATTAGC CAGGTGTGGTGGTGGGTACTTGTAGTCCCAGCTACTCGGAAGACTGAGGT GGAAGAATCACTTGAGTCCAGGAGGCAGAAGCTGCAGTGAGCTGAGACTG TGACACTGTACTCCAGCCTGGGCACAGAGCAAGACTCTGTCTGAAAAAAA AAAAAAAAAAAATTCAACGGAATCTCTTTCCTCATATTTCTCTTTGAACA CCATGAAAGGGAAGATTGTCCCAGCAAGGACACACACAAATGACTTTGAT ATTAATGGCCCATTTGTAGCCTCCCTTTATACTTTCAGCTACAACTGAAA AAGATGCAACATAGAGAATAATATAGCAGAGACTCAGATAGGTATCCTCC CTTCAGAATTAACAAATTTCACATTTTGCTTCATATTCTAAAAAATATTA ATTACAATCATTCACTAAAAAAAATCAAGAGATCTATAATTTTTTAGATC CAGCCTGTCACCCAGGCTGGAGGGCAGTGGCACAATCCTGGCTCGCTGCA ACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTA GCTGGGACTACAGTCACCCACCACCATGCCTGGCTTATTTTTTTTGTTTT TGAGTTGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAATGGTGTAATC TCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTC AGCCTCCCAAGCAGCTGGGACTACAGGCGCATGCCACCACGCTCAGCTAA TTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGCCCAGGCTGGT CTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGC TGGGATTACAGGTGTGAGCCACTGTGCCGGGCCAGGATCTATAAATTTGG AAAGGAGATTTTATATCTTATAAAGGGTTATAGCCTGCATGGTGGCCATG CTGACAGGCTGGGAAGTGTAGCCTCCTGCAGAGATCAGAAACAGGCACTC CAAAGGAGGAGGGATTGAAGTGGAAGCTTGAAGCTGAAAGAGTTGGCTAA ACATACATATTCAACAGGTTATAGAAGGAGCTGTGGGCTGGGCGCAGTGG CTCATGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCCAGTGGATCACT TGAGGTCAGGACTTTGTGACCAGCCTGGCCAACATGGTGAAGCCCCGTCT CTACTAAAAAATACAAAATTAGGCAGGTGTGGTGGTGGGTGCCTGTAATC CCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCA GATGTTGCAATGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGTGACA AGAGCAAAACTCCGTTTCAAAAAAAAAAGAAGGAGCTGTAAATATTAACA AAGGGGGTCCTGACACATGTGTACTGAACAAACGTATGTTACATGTGTCC CATGTTCACTGTGGGGTGGAGACTTGACATTTAAATGCATTACTGCTGGG CATGGTGGCATGTGCCTATAGTCCCCGCTACTCAGGAGGTGGAGACAGGA GGGTAGCTTGAAGCTAGGAGTTCAAGGCTGCAGTGCACTATGGTCGCACC TGTGAATAGCCACTGCACTCCAGCCTGGACAACATAGTGAGACCCCACCT CTTTAAGCATGACAACAAGACCCTGTGCATCAAAAGGTGAAGCAGGAACA TGAAGGTACTCAAGTGCAGCTTCTGTAAACCAGACAGAACCAGTCCGTGG TCTGTGGTCTTCTTATCAGGAGAAAGTTACTGAAATCTGTGTCCTTACCA ATCAAAGCTGGAGTTATGGCTTTGGAGCAGGAGCAGGGGGTGTGTTAGGG TCTGGTGGTGGATGAGCTGCAGTTGTTTTAATATTATTGATCTCAAGGCC AGTGCTTGTTGAGCTGCTAGAGAAAAGGAAAAATCTCAGGCAGCTGGGAA CGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGTTAGGGTAGGAGG ACTGGAGGACTGCTTGAACCCAGGGGTTTGAGACCAGCTTGGGCAACATG GCAAAACCCCATCTTAGCTGGGTGGTGTGACACATGCCTGTAGTCCCAGC TACTTGGGAGGCAGAGGTGGGAAGATCACTTGAGCCCGAGAGGTTGAGGC TGCAGTGAGCTGTGATTGCACCACTGTACCACTCCAGCCTGGGTGACAGA TTGAGACCTTGTCTCCAAAAAAAAAAAAAAGAAAGAAAAATCTTGTGGCA GTTAGAACATAGTTCTAATGGCAGGATGTCCAGGTGTCCTGATACCACAT CACAATATCCGCTTTTAAGACAGTTACAGTCATGCTTTGATGTATTTCCG CACTAAAATACCAAGGATAATTTTCTTTAAATCAACAAAATACTAAATTT TCTTTTAAAAAGGTTATTGTATTTATGGCTGGGCACTGTGACTCATGCCT GTAATCCCGGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAG GAGTTCGAGACCAGACTGGCCAACATGGCGAAATCCCGTCTCTAATAAAA ATACAAAAAATTAGCTGAGCATGGTGGCGCGTGCCTGTAATCCCAGCTAC TTTGGAGGCTGAGGTGGAAGAATTGCTTGAACTTGGGAGGCGGAGGTTGC AGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGCACAACAGAAAGGAC CTCCTCTCCAAAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAGAAATTG TATTTGTTCATTTATTTTTCAAAGCCAAATACTTCTGAATTTCTTTAAAA AAAATTTTTTTCTACGCAGTCTCGCTCTGTTGTCCGGCTGGAGTACAGTG GCCCCATCACTGCTCACTGCAGCCTTGACCTCCCGGGCTCAAGTGATCCT CGCACCTCAACCTCCCAAGTAGCTGGGACTACAGGTGCATGCTACCATGC CCAGCTAATTTTTGTATTTTTTTGTAGAGATGGGGTTTCACCCCATTGCC CAGGCTGGTCTTGAACTCCCAGGCTCAAGTGATCCACCTACCTCAGCCTC CCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCACCTGGACTCAGATTT TGTCTTTCTTGAAAACCTCCTTCGACCTCAGCCCATCCGCTCCTCCACTG CCCCCACCCTGGTTACCTGGAGAACCTCTGCAGAACCCACACTAGCCTCC CTGATGGCATTCTGGCTCCTCTTCAAACCGTTTCCCACTCAGCAGCCAGA GACATGCTTCAAGACATAAGCTGGATCATGTTCTCCTGTGGAAAACCCTT CAAAGGCCTCCTGTGGCCTTGTGTGCCTGCCCTGCAGGAATCTCCAGCCC CACTTCTCTGCTCCCATCCCAGAGAAGCTCCAGTCCTTAGATTTATTCCT TGCTGTATCGTGGCTGGGCAGGGGCAGGCTGGATTTCCCAGGCACCTATG ACAGCAGGCTTCTCCCACTTCCAGTGGGAGATTGAAAGGCTGGAGGGAGA GAGAAACCTCCCTCCTATCCTCCAAAAGGTACTTCTCTCCCTACACTTCC TCCACTGCTCCCACCAGACATGCCTGGGCTGGGCCCAGCTTTGGCGAGGT GA	T T	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01517.hp1 HG01517.hp1	a0000 a0000	a0000c0018 a0000c0018	a0000c0018t0002 a0000c0018t0002	a0000c0018t0002g0173 a0000c0018t0002g0173	1	444	0.0023	-5201	c.796 others(13): Show c.796-103_*5080del		CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding	8/8				INFO_REALIGN_3_PRIME	chr1	TogoVar
CELA3B_chr1_21972022_21994354	21989262	ACCATAGC others(5085): Show ACCATAGCAAGCCACTAGAACCAAGGCCCAGCTGGCAGTGCTGATCGATC CCACATCCTGAATAAAGAATAAAGATCTCTCAGAAAATTCCAAGTTGAAT CTTTCTTTCTTTGTTGACTCACCTCTTCCCCTCTGGCCTGTTCCTAAAAT CTTAGATCTCATATGCAGAGACAGGACCAGGTCCAACCCTTTCATACGAA GATGAGGGAAAAATGATGCTGGGAGAGAAGGGAGTTGCTGTGCGGTGACC TGACCATCCTGGTTTGCCTGGAACTTCAGGAGTGAAGACACTGGACATTT AATGCTAAAACTGGGAAGGTACCAGGAAAAATGGGACAAGTTGGTCGCCT TAGTATATAGTCGCACATAAGTCAGTAGCTTTTCAATGCAGGCATATAAA CATGGTAAAAATCTGCAGATAAACAGACCCTGCCAGCCCCTCAGCAGGCT CATGGTAGAGTGGGAAGGACAATGTGTGATCTGCTTCCACTGATGGGCTG GGGGCTTTGGTTATTCATTCATTCAACAAACACTTATTCCTTGTTTTAAA GGAGGGCTCAGAGGGGTAAGGAGACATGGTTCCTGCCCTGAAGTGACTCA TTATTTAAAGATAGCTCTCTTAGTCTGTGTTCATACTGCTATAAAGAACT GCCCGAGACTGGGTAGTTTATAAAGGAAAGAAGTGTAATTGACTCACAGT TCAGCATGGCTGGGGAGGCCTCAGGAAACTTAAAATCATGGTGGAAGATG AAGGGGAAGCAAGGGACCTTCTTTACAAGGTGGCAGGAAGGAAAATTGCC TAGCAAAGGGGGAAGAGCCCCTTATAAAACCATCAGATCTGGCGAGAACT CACTCACTATCATGAGAACAGCATGGGGGAACCGCCCTATGATTCAATTA CCTTCTCCCTTGACACATGGCGATTATGGGGATTACAATTCAAGGTGAGA TTTGGGTGGGGACACAAAGCCTAACCATGTCATGAGCATATCACGGTCAT TCATTAAACATGTATTAGGTACCTGCCTTGTGGCAAGTTCAGGGCTGGAA AAACAGAGACAAGTCAGGCAACCCTAGGAAGAGCCCTTACTGAAGGGGGG AGAAGACACACACACAGGTACACAGGTATACACACACAGGTACACACAAT GCTGCGCACGAGCCCAGAGCCAGCAAACAGTTGAGTTTTGAAAGGAAGAA CGCTGGCCAGGTGCAGTAGCTCATGCTTGTAATCCTAGCACTTTGGGAGG CTGAGGCAGGTAGATCAACTGAGGTCACGAGTTCGAAACTCCTTCTTAAA AAAAAAAAAGAATGCTGTTACACAGACAAAAGCAACATAAAACAAGGGAG TCTGGCTGGGCCTGGTGGTTCATACTTGTAATCCCAGCACTTTGGGAGGC CAGGGTGGGTGGATCACTTGAGCCCACGAGTTTGAGACCAGCCTGGGAAA CATGGTAAAACCCCATCTCTACAAAAAACATAAAAATTAGCCAGGTGTGG TGGTGGGTACTTGTAGTCCCAGCTACTCGGAAGACTGAGGTGGAAGAATC ACTTGAGTCCAGGAGGCAGAAGCTGCAGTGAGCTGAGACTGTGACACTGT ACTCCAGCCTGGGCACAGAGCAAGACTCTGTCTGAAAAAAAAAAAAAAAA AAATTCAACGGAATCTCTTTCCTCATATTTCTCTTTGAACACCATGAAAG GGAAGATTGTCCCAGCAAGGACACACACAAATGACTTTGATATTAATGGC CCATTTGTAGCCTCCCTTTATACTTTCAGCTACAACTGAAAAAGATGCAA CATAGAGAATAATATAGCAGAGACTCAGATAGGTATCCTCCCTTCAGAAT TAACAAATTTCACATTTTGCTTCATATTCTAAAAAATATTAATTACAATC ATTCACTAAAAAAAATCAAGAGATCTATAATTTTTTAGATCCAGCCTGTC ACCCAGGCTGGAGGGCAGTGGCACAATCCTGGCTCGCTGCAACCTCCGCC TCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACT ACAGTCACCCACCACCATGCCTGGCTTATTTTTTTTGTTTTTGAGTTGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTACAATGGTGTAATCTCAGCTCAC TGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCA AGCAGCTGGGACTACAGGCGCATGCCACCACGCTCAGCTAATTTTTGTAT TTTTAGTAGAGATGAGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTC CTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACTGTGCCGGGCCAGGATCTATAAATTTGGAAAGGAGAT TTTATATCTTATAAAGGGTTATAGCCTGCATGGTGGCCATGCTGACAGGC TGGGAAGTGTAGCCTCCTGCAGAGATCAGAAACAGGCACTCCAAAGGAGG AGGGATTGAAGTGGAAGCTTGAAGCTGAAAGAGTTGGCTAAACATACATA TTCAACAGGTTATAGAAGGAGCTGTGGGCTGGGCGCAGTGGCTCATGCCT GTCATCCCAGCACTTTGGGAGGCTGAGGCCAGTGGATCACTTGAGGTCAG GACTTTGTGACCAGCCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAA AATACAAAATTAGGCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACT CAGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGATGTTGCA ATGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAA CTCCGTTTCAAAAAAAAAAGAAGGAGCTGTAAATATTAACAAAGGGGGTC CTGACACATGTGTACTGAACAAACGTATGTTACATGTGTCCCATGTTCAC TGTGGGGTGGAGACTTGACATTTAAATGCATTACTGCTGGGCATGGTGGC ATGTGCCTATAGTCCCCGCTACTCAGGAGGTGGAGACAGGAGGGTAGCTT GAAGCTAGGAGTTCAAGGCTGCAGTGCACTATGGTCGCACCTGTGAATAG CCACTGCACTCCAGCCTGGACAACATAGTGAGACCCCACCTCTTTAAGCA TGACAACAAGACCCTGTGCATCAAAAGGTGAAGCAGGAACATGAAGGTAC TCAAGTGCAGCTTCTGTAAACCAGACAGAACCAGTCCGTGGTCTGTGGTC TTCTTATCAGGAGAAAGTTACTGAAATCTGTGTCCTTACCAATCAAAGCT GGAGTTATGGCTTTGGAGCAGGAGCAGGGGGTGTGTTAGGGTCTGGTGGT GGATGAGCTGCAGTTGTTTTAATATTATTGATCTCAAGGCCAGTGCTTGT TGAGCTGCTAGAGAAAAGGAAAAATCTCAGGCAGCTGGGAACGGTGGCTC ATGCCTATAATCCCAGCACTTTGGGAGGTTAGGGTAGGAGGACTGGAGGA CTGCTTGAACCCAGGGGTTTGAGACCAGCTTGGGCAACATGGCAAAACCC CATCTTAGCTGGGTGGTGTGACACATGCCTGTAGTCCCAGCTACTTGGGA GGCAGAGGTGGGAAGATCACTTGAGCCCGAGAGGTTGAGGCTGCAGTGAG CTGTGATTGCACCACTGTACCACTCCAGCCTGGGTGACAGATTGAGACCT TGTCTCCAAAAAAAAAAAAAAGAAAGAAAAATCTTGTGGCAGTTAGAACA TAGTTCTAATGGCAGGATGTCCAGGTGTCCTGATACCACATCACAATATC CGCTTTTAAGACAGTTACAGTCATGCTTTGATGTATTTCCGCACTAAAAT ACCAAGGATAATTTTCTTTAAATCAACAAAATACTAAATTTTCTTTTAAA AAGGTTATTGTATTTATGGCTGGGCACTGTGACTCATGCCTGTAATCCCG GCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCGAG ACCAGACTGGCCAACATGGCGAAATCCCGTCTCTAATAAAAATACAAAAA ATTAGCTGAGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTTTGGAGGC TGAGGTGGAAGAATTGCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCTG AGATCGCACCACTGCACTCCAGCCTGCACAACAGAAAGGACCTCCTCTCC AAAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAGAAATTGTATTTGTTC ATTTATTTTTCAAAGCCAAATACTTCTGAATTTCTTTAAAAAAAATTTTT TTCTACGCAGTCTCGCTCTGTTGTCCGGCTGGAGTACAGTGGCCCCATCA CTGCTCACTGCAGCCTTGACCTCCCGGGCTCAAGTGATCCTCGCACCTCA ACCTCCCAAGTAGCTGGGACTACAGGTGCATGCTACCATGCCCAGCTAAT TTTTGTATTTTTTTGTAGAGATGGGGTTTCACCCCATTGCCCAGGCTGGT CTTGAACTCCCAGGCTCAAGTGATCCACCTACCTCAGCCTCCCAAAGTGC TAGGATTACAGGTGTGAGCCACTGCACCTGGACTCAGATTTTGTCTTTCT TGAAAACCTCCTTCGACCTCAGCCCATCCGCTCCTCCACTGCCCCCACCC TGGTTACCTGGAGAACCTCTGCAGAACCCACACTAGCCTCCCTGATGGCA TTCTGGCTCCTCTTCAAACCGTTTCCCACTCAGCAGCCAGAGACATGCTT CAAGACATAAGCTGGATCATGTTCTCCTGTGGAAAACCCTTCAAAGGCCT CCTGTGGCCTTGTGTGCCTGCCCTGCAGGAATCTCCAGCCCCACTTCTCT GCTCCCATCCCAGAGAAGCTCCAGTCCTTAGATTTATTCCTTGCTGTATC GTGGCTGGGCAGGGGCAGGCTGGATTTCCCAGGCACCTATGACAGCAGGC TTCTCCCACTTCCAGTGGGAGATTGAAAGGCTGGAGGGAGAGAGAAACCT CCCTCCTATCCTCCAAAAGGTACTTCTCTCCCTACACTTCCTCCACTGCT CCCACCAGACATGCCTGGGCTGGGCCCAGCTTTGGCGAGGTGA	A A	stop_lost others(4): Show stop_lost 3_prime_UTR_truncation exon_loss_variant conservative_inframe_deletion splice_region_variant	HIGH	HG01515.hp2 HG01515.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0002 a0000c0019t0002	a0000c0019t0002g0174 a0000c0019t0002g0174	1	444	0.0023	-5092	c.799 others(9): Show c.799_*5077del	p.Ile others(13): Show p.Ile267_Ter271del	CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding	8/8	817/906	799/813	267/270	INFO_REALIGN_3_PRIME	chr1	TogoVar
CELF1_chr11_47460937_47558132	47500936	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02896.hp1 HG02976.hp2 others(1): Show HG02451.hp1 HG02896.hp1 HG02976.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0024 a0001c0003t0011 a0001c0001t0001 a0001c0001t0024 a0001c0003t0011	a0001c0001t0001g0319 a0001c0001t0024g0320 a0001c0003t0011g0308 others(1): Show a0001c0001t0001g0319 a0001c0001t0024g0320 a0001c0003t0011g0308 a0001c0003t0011g0309	4	340	0.0118	0	c.-15 others(6): Show c.-153-4G>A		CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14					chr11	TogoVar
CELF2_chr10_11012872_11341675	11314130	T T	TTTTG TTTTG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(190): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(78): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0041 a0001c0001t0043 a0001c0001t0046 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0023 a0001c0002t0029 a0001c0002t0033 a0001c0002t0045 a0001c0002t0051 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0003t0015 a0001c0003t0016 a0001c0003t0023 a0001c0003t0024 a0001c0003t0038 a0001c0003t0039 a0001c0003t0044 a0001c0004t0001 a0001c0004t0003 a0001c0004t0007 a0001c0004t0010 a0001c0004t0011 a0001c0004t0012 a0001c0004t0013 a0001c0004t0027 a0001c0004t0030 a0001c0004t0040 a0001c0004t0047 a0001c0005t0001 a0001c0005t0052 a0001c0005t0053 a0001c0006t0020 a0001c0006t0042 a0001c0008t0003 a0001c0009t0006 a0001c0010t0015 a0001c0011t0048 a0002c0007t0037	a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0030 others(190): Show a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0002g0172 a0001c0001t0003g0007 a0001c0001t0003g0038 a0001c0001t0003g0062 a0001c0001t0003g0071 a0001c0001t0003g0149 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0004g0138 a0001c0001t0004g0179 a0001c0001t0005g0006 a0001c0001t0005g0044 a0001c0001t0006g0117 a0001c0001t0006g0118 a0001c0001t0006g0127 a0001c0001t0007g0042 a0001c0001t0008g0081 a0001c0001t0008g0186 a0001c0001t0010g0015 a0001c0001t0011g0080 a0001c0001t0011g0157 a0001c0001t0012g0079 a0001c0001t0012g0188 a0001c0001t0013g0083 a0001c0001t0013g0178 a0001c0001t0017g0004 a0001c0001t0017g0041 a0001c0001t0017g0153 a0001c0001t0019g0047 a0001c0001t0019g0051 a0001c0001t0020g0036 a0001c0001t0021g0076 a0001c0001t0021g0089 a0001c0001t0022g0017 a0001c0001t0022g0022 a0001c0001t0025g0012 a0001c0001t0026g0065 a0001c0001t0028g0192 a0001c0001t0031g0145 a0001c0001t0032g0075 a0001c0001t0034g0162 a0001c0001t0035g0095 a0001c0001t0036g0016 a0001c0001t0041g0100 a0001c0001t0043g0008 a0001c0001t0046g0069 a0001c0001t0050g0173 a0001c0002t0001g0014 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0054 a0001c0002t0001g0067 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0094 a0001c0002t0001g0102 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0119 a0001c0002t0001g0126 a0001c0002t0001g0136 a0001c0002t0001g0146 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0167 a0001c0002t0001g0176 a0001c0002t0001g0184 a0001c0002t0002g0002 a0001c0002t0002g0011 a0001c0002t0002g0027 a0001c0002t0002g0049 a0001c0002t0002g0052 a0001c0002t0002g0061 a0001c0002t0002g0068 a0001c0002t0002g0073 a0001c0002t0002g0090 a0001c0002t0002g0096 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0128 a0001c0002t0002g0140 a0001c0002t0002g0170 a0001c0002t0002g0193 a0001c0002t0003g0048 a0001c0002t0003g0078 a0001c0002t0003g0105 a0001c0002t0003g0165 a0001c0002t0004g0120 a0001c0002t0004g0147 a0001c0002t0005g0005 a0001c0002t0007g0058 a0001c0002t0008g0028 a0001c0002t0009g0055 a0001c0002t0009g0057 a0001c0002t0009g0148 a0001c0002t0014g0037 a0001c0002t0014g0040 a0001c0002t0014g0050 a0001c0002t0015g0143 a0001c0002t0016g0035 a0001c0002t0018g0084 a0001c0002t0018g0135 a0001c0002t0023g0053 a0001c0002t0029g0106 a0001c0002t0033g0001 a0001c0002t0045g0099 a0001c0002t0051g0020 a0001c0003t0001g0046 a0001c0003t0001g0133 a0001c0003t0002g0021 a0001c0003t0002g0082 a0001c0003t0002g0093 a0001c0003t0002g0181 a0001c0003t0003g0137 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0004g0024 a0001c0003t0004g0029 a0001c0003t0004g0130 a0001c0003t0005g0009 a0001c0003t0005g0064 a0001c0003t0008g0129 a0001c0003t0009g0043 a0001c0003t0015g0132 a0001c0003t0016g0003 a0001c0003t0016g0070 a0001c0003t0023g0155 a0001c0003t0024g0142 a0001c0003t0038g0131 a0001c0003t0039g0034 a0001c0003t0044g0194 a0001c0004t0001g0023 a0001c0004t0001g0039 a0001c0004t0001g0056 a0001c0004t0001g0072 a0001c0004t0001g0077 a0001c0004t0001g0091 a0001c0004t0001g0098 a0001c0004t0001g0113 a0001c0004t0001g0124 a0001c0004t0001g0152 a0001c0004t0003g0025 a0001c0004t0007g0045 a0001c0004t0007g0059 a0001c0004t0010g0018 a0001c0004t0010g0019 a0001c0004t0011g0122 a0001c0004t0012g0182 a0001c0004t0013g0074 a0001c0004t0027g0066 a0001c0004t0030g0063 a0001c0004t0040g0141 a0001c0004t0047g0156 a0001c0005t0001g0110 a0001c0005t0001g0163 a0001c0005t0052g0144 a0001c0005t0053g0185 a0001c0006t0020g0191 a0001c0006t0042g0190 a0001c0008t0003g0166 a0001c0009t0006g0125 a0001c0010t0015g0159 a0001c0011t0048g0013 a0002c0007t0037g0164	193	194	0.9949	4	c.977 others(15): Show c.977-6_977-5insGTTT		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	9/12				INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF3_chr1_151695058_151721803	151707943	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0099	1	432	0.0023	0	c.487 others(5): Show c.487-8G>A		CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding	5/12					chr1	TogoVar
CELSR1_chr22_46356174_46542620	46361176	C C	G G	splice_region_variant splice_region_variant	LOW	NA18906.hp2 NA18906.hp2	a0049 a0049	a0049c0062 a0049c0062	a0049c0062t0013 a0049c0062t0013	a0049c0062t0013g0100 a0049c0062t0013g0100	1	104	0.0096	0	c.20 others(5): Show c.2047G>C		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	35/35					chr22	TogoVar
CELSR1_chr22_46356174_46542620	46364504	C C	CCAGGCAC others(28): Show CCAGGCACCTTTCCTCTGCTCTGGGGGCTGGCTGCT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp1 HG02818.hp1	a0027 a0027	a0027c0052 a0027c0052	a0027c0052t0001 a0027c0052t0001	a0027c0052t0001g0031 a0027c0052t0001g0031	1	104	0.0096	35	c.875 others(46): Show c.8752_8779+7dupAGCAGCCAGCCCCCAGAGCAGAGGAAAGGTGCCT G		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	33/34					chr22	TogoVar
CELSR1_chr22_46356174_46542620	46367860	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG06807.hp2 NA20805.hp2 HG01106.hp1 HG06807.hp2 NA20805.hp2	a0003 a0019 a0003 a0019	a0003c0005 a0019c0041 a0003c0005 a0019c0041	a0003c0005t0002 a0019c0041t0010 a0003c0005t0002 a0019c0041t0010	a0003c0005t0002g0036 a0003c0005t0002g0065 a0019c0041t0010g0068 a0003c0005t0002g0036 a0003c0005t0002g0065 a0019c0041t0010g0068	3	104	0.0289	0	c.795 others(6): Show c.7953-5C>T		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	27/34					chr22	TogoVar
CELSR1_chr22_46356174_46542620	46369808	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp1 HG03471.hp1	a0047 a0047	a0047c0063 a0047c0063	a0047c0063t0003 a0047c0063t0003	a0047c0063t0003g0099 a0047c0063t0003g0099	1	104	0.0096	0	c.776 others(6): Show c.7760-4T>G		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	25/34					chr22	TogoVar
CELSR1_chr22_46356174_46542620	46378722	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG02630.hp2 HG02615.hp2 HG02630.hp2	a0002 a0002	a0002c0012 a0002c0016 a0002c0012 a0002c0016	a0002c0012t0003 a0002c0016t0003 a0002c0012t0003 a0002c0016t0003	a0002c0012t0003g0012 a0002c0016t0003g0025 a0002c0012t0003g0012 a0002c0016t0003g0025	2	104	0.0192	0	c.725 others(6): Show c.7257-5C>T		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	22/34					chr22	TogoVar
CELSR1_chr22_46356174_46542620	46389497	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03834.hp2 HG03834.hp2	a0016 a0016	a0016c0047 a0016c0047	a0016c0047t0001 a0016c0047t0001	a0016c0047t0001g0035 a0016c0047t0001g0035	1	104	0.0096	0	c.634 others(4): Show c.6348T>C	p.Asn others(7): Show p.Asn2116Asn	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	18/35	6798/11559	6348/9060	2116/3019		chr22	TogoVar
CELSR1_chr22_46356174_46542620	46390384	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0044 a0001c0006t0001g0044	1	104	0.0096	0	c.634 others(6): Show c.6345+8C>T		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	17/34					chr22	TogoVar
CELSR1_chr22_46356174_46542620	46394262	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18906.hp2 NA18906.hp2	a0049 a0049	a0049c0062 a0049c0062	a0049c0062t0013 a0049c0062t0013	a0049c0062t0013g0100 a0049c0062t0013g0100	1	104	0.0096	0	c.584 others(4): Show c.5844A>G	p.Lys others(7): Show p.Lys1948Lys	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	14/35	6294/11559	5844/9060	1948/3019		chr22	TogoVar
CELSR1_chr22_46356174_46542620	46433480	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02486.hp1 HG02647.hp2 HG02818.hp1 others(4): Show HG02486.hp1 HG02647.hp2 HG02818.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp1 NA19030.hp2	a0013 a0023 a0027 others(4): Show a0013 a0023 a0027 a0032 a0035 a0041 a0044	a0013c0010 a0023c0042 a0027c0052 others(4): Show a0013c0010 a0023c0042 a0027c0052 a0032c0018 a0035c0057 a0041c0066 a0044c0060	a0013c0010t0001 a0023c0042t0002 a0027c0052t0001 others(4): Show a0013c0010t0001 a0023c0042t0002 a0027c0052t0001 a0032c0018t0002 a0035c0057t0001 a0041c0066t0002 a0044c0060t0001	a0013c0010t0001g0007 a0023c0042t0002g0054 a0027c0052t0001g0031 others(4): Show a0013c0010t0001g0007 a0023c0042t0002g0054 a0027c0052t0001g0031 a0032c0018t0002g0021 a0035c0057t0001g0093 a0041c0066t0002g0103 a0044c0060t0001g0095	7	104	0.0673	0	c.452 others(4): Show c.4524C>T	p.Gly others(7): Show p.Gly1508Gly	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	5/35	4974/11559	4524/9060	1508/3019		chr22	TogoVar
CELSR2_chr1_109244539_109280751	109270421	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 NA19240.hp1 HG02055.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0160 a0002c0004t0002g0161 a0002c0004t0002g0160 a0002c0004t0002g0161	2	356	0.0056	0	c.730 others(6): Show c.7309-5C>T		CELSR2	ENSG00000143126.8	transcript	ENST00000271332.4	protein_coding	23/33					chr1	TogoVar
CELSR3_chr3_48631463_48667886	48648928	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0063 a0001c0027t0001g0063	1	206	0.0049	0	c.656 others(4): Show c.6568C>T	p.Leu others(7): Show p.Leu2190Leu	CELSR3	ENSG00000008300.17	transcript	ENST00000164024.5	protein_coding	18/35	6820/11933	6568/9939	2190/3312		chr3	TogoVar

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