Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CEP76_chr18_12667625_12707723	12705604	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	380	0.0026	13	c.-30 others(24): Show c.-3057_-3056insCACACACACACAC	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		2882		chr18	TogoVar
CEP83_chr12_94302698_94464867	94331289	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01358.hp1 others(4): Show HG00140.hp1 HG00738.hp2 HG01358.hp1 NA18947.hp2 NA18980.hp1 NA19076.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0001 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0224 a0001c0001t0004g0330 a0001c0001t0013g0326	7	364	0.0192	13	c.170 others(30): Show c.1707+398_1707+410dupTTTTTTTTTTTTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	14/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94331302	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0026 a0001c0001t0009g0026	1	364	0.0028	13	c.170 others(30): Show c.1707+397_1707+398insCTTTTTTTTTTTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	14/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94343470	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03139.hp1 HG03516.hp2 HG01109.hp1 HG03139.hp1 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0004c0007t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0004c0007t0001g0103	3	364	0.0082	13	c.134 others(32): Show c.1344-7819_1344-7807dupAAAAAAAAAAAAA	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP85L_chr6_118455772_118656591	118542900	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18982.hp1 NA18992.hp1 HG03491.hp1 NA18982.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0213 a0002c0002t0002g0216 a0002c0002t0002g0197 a0002c0002t0002g0213 a0002c0002t0002g0216	3	302	0.0099	13	c.102 others(34): Show c.1021-18993_1021-18981dupTTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118542919	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0231 a0002c0002t0002g0231	1	302	0.0033	13	c.102 others(34): Show c.1021-19000_1021-18999insGTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118542923	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0173 a0002c0002t0002g0173	1	302	0.0033	13	c.102 others(34): Show c.1021-19004_1021-19003insGTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600294	C C	CTGGGGGG others(6): Show CTGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0234 a0002c0002t0002g0234	1	302	0.0033	13	c.232 others(32): Show c.232+32158_232+32159insCCCCCCCCCCCCA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01981.hp2 HG02273.hp2 others(2): Show HG00639.hp1 HG01981.hp2 HG02273.hp2 NA18955.hp2 NA18968.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0012	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0012c0009	a0001c0001t0004 a0003c0003t0003 a0004c0004t0006 others(1): Show a0001c0001t0004 a0003c0003t0003 a0004c0004t0006 a0012c0009t0001	a0001c0001t0004g0084 a0003c0003t0003g0006 a0003c0003t0003g0016 others(2): Show a0001c0001t0004g0084 a0003c0003t0003g0006 a0003c0003t0003g0016 a0004c0004t0006g0044 a0012c0009t0001g0157	5	302	0.0166	13	c.232 others(32): Show c.232+32152_232+32153insACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118612676	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18968.hp1 HG03927.hp2 NA18968.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0009 a0001c0001 a0012c0009	a0001c0001t0001 a0012c0009t0001 a0001c0001t0001 a0012c0009t0001	a0001c0001t0001g0169 a0012c0009t0001g0157 a0001c0001t0001g0169 a0012c0009t0001g0157	2	302	0.0066	13	c.232 others(32): Show c.232+19764_232+19776dupCCCCCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26235567	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02683.hp2 HG02486.hp1 HG02572.hp1 HG02683.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0012 a0003c0003t0004 a0001c0001t0012 a0003c0003t0004	a0001c0001t0012g0168 a0003c0003t0004g0318 a0003c0003t0004g0319 a0001c0001t0012g0168 a0003c0003t0004g0318 a0003c0003t0004g0319	3	342	0.0088	13	c.-23 others(30): Show c.-23+1265_-23+1277dupTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26241243	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01515.hp1 HG02572.hp1 others(3): Show HG01361.hp1 HG01515.hp1 HG02572.hp1 HG02896.hp1 HG02897.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0006 a0003c0003t0004 a0003c0003t0006	a0003c0003t0004g0300 a0003c0003t0004g0301 a0003c0003t0004g0313 others(3): Show a0003c0003t0004g0300 a0003c0003t0004g0301 a0003c0003t0004g0313 a0003c0003t0004g0318 a0003c0003t0006g0093 a0003c0003t0006g0096	6	342	0.0175	13	c.55+ others(28): Show c.55+1405_55+1406insTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	2/13			chr1	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03139.hp1 HG03942.hp1 HG01192.hp2 HG03139.hp1 HG03942.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0018 a0001c0001 a0006c0018	a0001c0001t0003 a0006c0018t0003 a0001c0001t0003 a0006c0018t0003	a0001c0001t0003g0099 a0001c0001t0003g0151 a0006c0018t0003g0123 a0001c0001t0003g0099 a0001c0001t0003g0151 a0006c0018t0003g0123	3	342	0.0088	13	c.208 others(30): Show c.208+4414_208+4426dupTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26256928	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00621.hp2 others(21): Show HG00280.hp1 HG00438.hp1 HG00621.hp2 HG00741.hp2 HG01123.hp2 HG01255.hp1 HG01361.hp2 HG01975.hp1 HG01981.hp2 HG02040.hp1 HG02145.hp2 HG02293.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG02922.hp2 HG03831.hp2 NA18939.hp1 NA18944.hp1 NA18954.hp1 NA19030.hp1 NA19086.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0012 others(1): Show a0001c0001 a0002c0002 a0002c0012 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0010 a0002c0012t0001 a0005c0006t0001	a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0190 others(21): Show a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0003g0105 a0002c0002t0001g0212 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0271 a0002c0002t0001g0276 a0002c0002t0010g0283 a0002c0012t0001g0187 a0005c0006t0001g0261 a0005c0006t0001g0278	24	342	0.0702	13	c.904 others(28): Show c.904-669_904-668insTGTGTGTGTGTGT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13			chr1	TogoVar
CEP85_chr1_26229200_26283808	26256955	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	342	0.0029	13	c.904 others(28): Show c.904-641_904-640insGTGTGTGTGTGTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEPT1_chr1_111135223_111190104	111149266	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00609.hp2 others(109): Show HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01167.hp2 HG01243.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03654.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18975.hp2 NA18981.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19072.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0002g0003 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0030 a0001c0001t0003g0080 a0001c0001t0003g0093 a0001c0003t0001g0084 a0001c0003t0001g0085	112	410	0.2732	13	c.339 others(30): Show c.339+1215_339+1227dupTTTTTTTTTTTTT	CEPT1	ENSG00000134255.16	transcript	ENST00000357172.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
CERKL_chr2_181531672_181662105	181536924	G G	GGAAAGAT others(6): Show GGAAAGATTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 NA19003.hp1 NA19056.hp1 others(1): Show HG00609.hp2 NA19003.hp1 NA19056.hp1 NA19078.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0094 a0002c0003t0009g0104 a0002c0003t0009g0110 others(1): Show a0002c0003t0009g0094 a0002c0003t0009g0104 a0002c0003t0009g0110 a0002c0003t0009g0120	4	298	0.0134	13	c.12 others(24): Show c.1247_*1259dupAAAGAAATCTTTC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	13/13	1259		chr2	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0135 a0002c0003t0007g0135	1	298	0.0034	13	c.239 others(30): Show c.239-5467_239-5455dupTTTTTTTTTTTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS1_chr19_18863545_18901158	18894950	C C	CCTTCCAA others(6): Show CCTTCCAACCAGCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0230 a0001c0002t0003g0230	1	380	0.0026	13	c.249 others(28): Show c.249+861_249+873dupAGCTGGTTGGAAG	CERS1	ENSG00000223802.9	transcript	ENST00000623882.4	protein_coding	1/7			chr19	TogoVar
CERS3_chr15_100395395_100533950	100467846	T T	TATAGATA others(6): Show TATAGATAGATTAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0165 a0001c0001t0017g0165	1	362	0.0028	13	c.845 others(30): Show c.845+1531_845+1532insCTAATCTATCTAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100483787	A A	ATTATTAT others(6): Show ATTATTATTATTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03139.hp2 HG03098.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0041 a0002c0002t0033 a0002c0002t0041	a0002c0002t0033g0309 a0002c0002t0041g0322 a0002c0002t0033g0309 a0002c0002t0041g0322	2	362	0.0055	13	c.407 others(28): Show c.407+762_407+763insAAAATAATAATAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	5/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100483787	A A	ATTATTAT others(6): Show ATTATTATTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02004.hp2 HG02109.hp2 others(5): Show HG00323.hp1 HG02004.hp2 HG02109.hp2 HG02572.hp2 HG02735.hp1 HG03654.hp2 HG03834.hp2 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0020	a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0057 others(5): Show a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0003g0050 a0002c0002t0003g0052 a0002c0002t0003g0056 a0002c0002t0004g0058 a0002c0002t0020g0051	8	362	0.0221	13	c.407 others(28): Show c.407+762_407+763insAAAAAAATAATAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	5/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100483787	A A	ATTATTTT others(6): Show ATTATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	362	0.0028	13	c.407 others(28): Show c.407+762_407+763insAAAAAAAAAATAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	5/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8245129	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG03195.hp1 HG02886.hp2 HG03098.hp2 HG03195.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0006c0010t0015 a0001c0001t0001 a0006c0010t0001 a0006c0010t0015	a0001c0001t0001g0125 a0006c0010t0001g0092 a0006c0010t0015g0093 a0001c0001t0001g0125 a0006c0010t0001g0092 a0006c0010t0015g0093	3	418	0.0072	13	c.-1- others(28): Show c.-1-5941_-1-5940insAAAAAACAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA18997.hp2 NA19064.hp1 HG02258.hp2 NA18997.hp2 NA19064.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0014 a0002c0003 a0003c0014	a0002c0003t0001 a0002c0003t0004 a0003c0014t0001 a0002c0003t0001 a0002c0003t0004 a0003c0014t0001	a0002c0003t0001g0166 a0002c0003t0004g0213 a0003c0014t0001g0406 a0002c0003t0001g0166 a0002c0003t0004g0213 a0003c0014t0001g0406	3	418	0.0072	13	c.51 others(24): Show c.5185_*5186insAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS5_chr12_50124289_50172369	50135259	A A	AGAGAGGA others(6): Show AGAGAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0289 a0001c0002t0002g0289	1	320	0.0031	13	c.872 others(28): Show c.872+472_872+473insCCTCCCTCCTCTC	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	8/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50140284	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0189 a0001c0001t0015g0189	1	320	0.0031	13	c.493 others(30): Show c.493-1680_493-1668dupAAAAAAAAAAAAA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	4/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50148915	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0198 a0001c0001t0006g0198	1	320	0.0031	13	c.198 others(30): Show c.198-4859_198-4858insATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50148921	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0257	1	320	0.0031	13	c.198 others(30): Show c.198-4865_198-4864insATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50161784	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp2 HG02897.hp2 others(10): Show HG02559.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 NA18522.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0004t0005	a0001c0001t0001g0081 a0001c0001t0001g0111 a0001c0001t0001g0112 others(10): Show a0001c0001t0001g0081 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0269 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0004t0001g0004 a0001c0004t0001g0007 a0001c0004t0005g0008	13	320	0.0406	13	c.197 others(30): Show c.197+5304_197+5316dupTTTTTTTTTTTTT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168486518	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	176	0.0057	13	c.170 others(32): Show c.170+29900_170+29901insTTTTTTTTTTTTT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168520598	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02280.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0022 a0001c0001t0006g0034 a0001c0001t0005g0022 a0001c0001t0006g0034	2	176	0.0114	13	c.171 others(32): Show c.171-26981_171-26969dupTTTTTTTTTTTTT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168645116	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	176	0.0057	13	c.465 others(32): Show c.465+14074_465+14075insTATATATATATAT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168665947	G G	GACTGTGT others(6): Show GACTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	176	0.0057	13	c.466 others(32): Show c.466-25087_466-25086insACTGTGTGTGTGT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9			chr2	TogoVar
CERT1_chr5_75372775_75516629	75410609	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0327 a0001c0002t0009g0327	1	336	0.0030	13	c.930 others(28): Show c.930+389_930+401dupTTTTTTTTTTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	8/16			chr5	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTTTTT others(6): Show CTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00673.hp2 others(41): Show HG00438.hp2 HG00609.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01433.hp2 HG01496.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02273.hp1 HG03017.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18943.hp2 NA18946.hp1 NA18954.hp1 NA18962.hp1 NA18966.hp1 NA18978.hp2 NA18984.hp1 NA18988.hp2 NA18992.hp2 NA19003.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp1 NA19056.hp1 NA19070.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0009 a0045	a0001c0001 a0002c0005 a0004c0006 others(3): Show a0001c0001 a0002c0005 a0004c0006 a0006c0007 a0009c0012 a0045c0061	a0001c0001t0001 a0001c0001t0005 a0002c0005t0001 others(9): Show a0001c0001t0001 a0001c0001t0005 a0002c0005t0001 a0004c0006t0001 a0004c0006t0002 a0004c0006t0003 a0004c0006t0005 a0006c0007t0001 a0006c0007t0007 a0009c0012t0001 a0009c0012t0005 a0045c0061t0001	a0001c0001t0001g0373 a0001c0001t0005g0001 a0001c0001t0005g0152 others(36): Show a0001c0001t0001g0373 a0001c0001t0005g0001 a0001c0001t0005g0152 a0001c0001t0005g0189 a0002c0005t0001g0246 a0004c0006t0001g0321 a0004c0006t0001g0327 a0004c0006t0001g0384 a0004c0006t0001g0385 a0004c0006t0001g0391 a0004c0006t0001g0395 a0004c0006t0001g0402 a0004c0006t0002g0377 a0004c0006t0003g0008 a0004c0006t0003g0069 a0004c0006t0003g0081 a0004c0006t0003g0083 a0004c0006t0003g0093 a0004c0006t0003g0124 a0004c0006t0003g0126 a0004c0006t0005g0138 a0004c0006t0005g0147 a0004c0006t0005g0163 a0004c0006t0005g0183 a0006c0007t0001g0019 a0006c0007t0001g0206 a0006c0007t0001g0210 a0006c0007t0001g0216 a0006c0007t0001g0217 a0006c0007t0001g0228 a0006c0007t0001g0232 a0006c0007t0001g0263 a0006c0007t0001g0293 a0006c0007t0001g0312 a0006c0007t0001g0376 a0006c0007t0007g0415 a0009c0012t0001g0282 a0009c0012t0005g0142 a0045c0061t0001g0285	44	449	0.0980	13	c.112 others(32): Show c.1126-1504_1126-1503insAAGAAAAAAAAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CES5A_chr16_55841154_55880373	55854533	T T	TTCTGTTT others(6): Show TTCTGTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02922.hp2 HG01884.hp2 HG02451.hp1 HG02922.hp2	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0004 a0005c0008 a0007c0071 a0003c0004 a0005c0008 a0007c0071	a0003c0004t0004 a0005c0008t0002 a0007c0071t0004 a0003c0004t0004 a0005c0008t0002 a0007c0071t0004	a0003c0004t0004g0134 a0005c0008t0002g0303 a0007c0071t0004g0106 a0003c0004t0004g0134 a0005c0008t0002g0303 a0007c0071t0004g0106	3	449	0.0067	13	c.112 others(32): Show c.1126-1506_1126-1505insGAAAGAAAACAGA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP20DC_chr3_58737008_59055025	58941327	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03540.hp1 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0200 a0001c0002t0001g0197 a0001c0002t0001g0200	2	204	0.0098	13	c.279 others(30): Show c.279-3578_279-3566dupTTTTTTTTTTTTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16			chr3	TogoVar
CFAP20_chr16_58108592_58134381	58114525	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02155.hp1 HG03195.hp2 others(12): Show HG00621.hp1 HG02155.hp1 HG03195.hp2 HG03491.hp2 HG03654.hp1 HG03704.hp1 HG04115.hp1 NA18612.hp2 NA18940.hp1 NA18945.hp2 NA18985.hp2 NA18991.hp2 NA19000.hp2 NA19087.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012	a0001c0001t0003g0030 a0001c0001t0003g0134 a0001c0001t0004g0040 others(7): Show a0001c0001t0003g0030 a0001c0001t0003g0134 a0001c0001t0004g0040 a0001c0001t0004g0056 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0005g0039 a0001c0001t0005g0129 a0001c0001t0011g0076 a0001c0001t0012g0171	15	400	0.0375	13	c.576 others(28): Show c.576+272_576+284dupTTTTTTTTTTTTT	CFAP20	ENSG00000070761.8	transcript	ENST00000262498.8	protein_coding	5/5			chr16	TogoVar
CFAP221_chr2_119539449_119661661	119628292	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	226	0.0044	13	c.165 others(30): Show c.1650+506_1650+507insTGTGTGTGTGTGT	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	16/23			chr2	TogoVar
CFAP221_chr2_119539449_119661661	119628294	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19005.hp2 HG01074.hp2 NA19005.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0074 a0003c0003t0002g0069 a0003c0003t0001g0074 a0003c0003t0002g0069	2	226	0.0089	13	c.165 others(30): Show c.1650+508_1650+509insTGTGTGTGTGTGT	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	16/23			chr2	TogoVar
CFAP221_chr2_119539449_119661661	119628334	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0208 a0008c0012t0001g0208	1	226	0.0044	13	c.165 others(30): Show c.1650+548_1650+549insGTGTGTGTGTGTG	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	16/23			chr2	TogoVar
CFAP251_chr12_121913592_122008919	121952240	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG03491.hp1 others(5): Show HG00609.hp1 HG00738.hp1 HG03491.hp1 HG03492.hp1 NA18971.hp2 NA18984.hp1 NA18998.hp1 NA19065.hp1	a0004 a0004	a0004c0002 a0004c0014 a0004c0002 a0004c0014	a0004c0002t0001 a0004c0014t0001 a0004c0002t0001 a0004c0014t0001	a0004c0002t0001g0009 a0004c0002t0001g0012 a0004c0002t0001g0026 others(5): Show a0004c0002t0001g0009 a0004c0002t0001g0012 a0004c0002t0001g0026 a0004c0002t0001g0038 a0004c0002t0001g0039 a0004c0002t0001g0051 a0004c0014t0001g0018 a0004c0014t0001g0019	8	354	0.0226	13	c.132 others(30): Show c.1320+729_1320+741dupAAAAAAAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121978393	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01256.hp2 NA18964.hp2 HG01255.hp1 HG01256.hp2 NA18964.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0001 a0007c0007t0001 a0003c0003t0001 a0007c0007t0001	a0003c0003t0001g0090 a0007c0007t0001g0073 a0007c0007t0001g0078 a0003c0003t0001g0090 a0007c0007t0001g0073 a0007c0007t0001g0078	3	354	0.0085	13	c.300 others(32): Show c.3006+2724_3006+2736dupAAAAAAAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP276_chr1_109100951_109117747	109113400	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	404	0.0025	13	c.-73 others(22): Show c.-734_-722dupTCTCTCTCTCTCT	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		654		chr1	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	416	0.0024	13	c.139 others(28): Show c.139+765_139+766insATATATATATATA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80572507	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19060.hp2 HG02886.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0078 a0001c0003t0001g0083 a0001c0001t0001g0078 a0001c0003t0001g0083	2	96	0.0208	13	c.243 others(32): Show c.243-10570_243-10558dupTTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(6): Show ACCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	436	0.0023	13	c.143 others(30): Show c.143+1228_143+1240dupGGGGGGGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44338919	C C	CCCGGCTC others(6): Show CCCGGCTCCTCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp2 HG02895.hp1 others(1): Show HG01891.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010	a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0002g0294 others(1): Show a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0002g0294 a0001c0002t0010g0061	4	436	0.0092	13	c.77+ others(26): Show c.77+198_77+199insAGGGAGGAGCCGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44338941	C C	CCCGGCTC others(6): Show CCCGGCTCCTCCCT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02004.hp1 HG02273.hp2 others(3): Show HG01993.hp2 HG02004.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02647.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0003 a0001c0002 a0001c0005 a0003c0003	a0001c0002t0010 a0001c0005t0003 a0003c0003t0002 others(1): Show a0001c0002t0010 a0001c0005t0003 a0003c0003t0002 a0003c0003t0028	a0001c0002t0010g0062 a0001c0005t0003g0039 a0001c0005t0003g0237 others(2): Show a0001c0002t0010g0062 a0001c0005t0003g0039 a0001c0005t0003g0237 a0003c0003t0002g0236 a0003c0003t0028g0238	6	436	0.0138	13	c.77+ others(26): Show c.77+176_77+177insAGGGAGGAGCCGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/6			chr21	TogoVar

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