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
CEP112_chr17_65630537_66197133	65679129	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp1 HG01346.hp1 others(1): Show HG01081.hp2 HG01255.hp1 HG01346.hp1 HG02145.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 others(1): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004	a0001c0002t0001g0086 a0002c0001t0001g0052 a0002c0001t0002g0111 others(1): Show a0001c0002t0001g0086 a0002c0001t0001g0052 a0002c0001t0002g0111 a0002c0001t0004g0001	4	112	0.0357	-24	c.269 others(43): Show c.2697+9976_2697+9999delAAAAAAAAAAAAAAAAAAAAAAAA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65852306	TTCCCTTC others(17): Show TTCCCTTCCCTTTCCTTCCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0110 a0004c0006t0002g0110	1	112	0.0089	-24	c.216 others(41): Show c.2164-296_2164-273delGGAAAGGGAAGGAAAGGGAAGGGA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65864913	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01258.hp2 HG01884.hp1 others(14): Show HG00438.hp1 HG01258.hp2 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02559.hp1 HG02717.hp1 HG02723.hp1 HG03017.hp2 HG03831.hp2 NA18983.hp2 NA18986.hp2 NA19056.hp2 NA19063.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0008 a0003c0005	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0002c0001t0001 a0002c0008t0001 a0003c0005t0001	a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0051 others(14): Show a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0076 a0001c0003t0001g0062 a0001c0003t0002g0109 a0002c0001t0001g0018 a0002c0001t0001g0025 a0002c0001t0001g0027 a0002c0001t0001g0031 a0002c0001t0001g0043 a0002c0001t0001g0065 a0002c0001t0001g0079 a0002c0008t0001g0030 a0003c0005t0001g0048 a0003c0005t0001g0055	17	112	0.1518	-24	c.216 others(45): Show c.2164-12903_2164-12880delACACACACACACACACACACACAC	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65920362	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0036 a0002c0001t0001g0036	1	112	0.0089	-24	c.198 others(43): Show c.1980+7196_1980+7219delATATATATATATATATATATATAT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66107126	GAAAGAAG others(17): Show GAAAGAAGAAACATACTTCAGTACA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	112	0.0089	-24	c.643 others(43): Show c.643-10518_643-10495delTGTACTGAAGTATGTTTCTTCTTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	6/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66168485	GTGTGTGT others(17): Show GTGTGTGTGTATATATATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0099 a0002c0001t0001g0099	1	112	0.0089	-24	c.470 others(41): Show c.470+6535_470+6558delTATATACATATATATACACACACA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	4/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101911094	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03453.hp1 NA18522.hp1 others(2): Show HG02886.hp1 HG03453.hp1 NA18522.hp1 NA18522.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0055 a0001c0001t0001g0110 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0110 a0001c0001t0001g0133 a0001c0001t0002g0138 a0001c0001t0002g0246	5	336	0.0149	-24	c.-41 others(35): Show c.-4190_-4167delTTTTTTTTTTTTTTTTTTTTTTTT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3915		chr11	TogoVar
CEP126_chr11_101910010_102006062	102004895	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0322 a0003c0004t0010g0322	1	336	0.0030	-24	c.72 others(35): Show c.7253_*7276delATATATATATATATATATATATAT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3834		chr11	TogoVar
CEP128_chr14_80491479_80946738	80647037	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp1 HG02080.hp2 others(8): Show HG01123.hp2 HG01192.hp1 HG02080.hp2 HG02165.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 NA19007.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0011 a0001c0001 a0002c0002 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0003 a0002c0002t0004 a0008c0011t0002	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(8): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0002g0124 a0001c0001t0006g0111 a0002c0002t0003g0066 a0002c0002t0003g0079 a0002c0002t0004g0070 a0002c0002t0004g0072 a0002c0002t0004g0142 a0008c0011t0002g0121	11	164	0.0671	-24	c.280 others(45): Show c.2807-66638_2807-66615delTATATATATATATATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656275	TTATTTAT others(17): Show TTATTTATATATATATTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03139.hp1 HG03195.hp2 others(2): Show HG02523.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0005g0005 others(2): Show a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0005g0005 a0001c0001t0005g0009 a0001c0001t0005g0036	5	164	0.0305	-24	c.280 others(45): Show c.2807-75876_2807-75853delTATATATAAATATATATATAAATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656279	TTATATAT others(17): Show TTATATATATATTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19240.hp1 HG03139.hp2 NA19240.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0153 a0001c0009t0006g0154 a0001c0009t0006g0153 a0001c0009t0006g0154	2	164	0.0122	-24	c.280 others(45): Show c.2807-75880_2807-75857delTATATATATATAAATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729056	GGGGTGTG others(17): Show GGGGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0005 a0001c0022t0005	a0001c0022t0005g0015 a0001c0022t0005g0015	1	164	0.0061	-24	c.280 others(45): Show c.2806+13995_2806+14018delACACACACACACACACACACACCC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP131_chr17_81184596_81227965	81205472	GGGTAGGA others(17): Show GGGTAGGAGGGGCAGCGGGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0040 a0040	a0040c0059 a0040c0059	a0040c0059t0001 a0040c0059t0001	a0040c0059t0001g0163 a0040c0059t0001g0163	1	384	0.0026	-24	c.515 others(41): Show c.515+1248_515+1271delTCCCCTCCCGCTGCCCCTCCTACC	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	5/25			chr17	TogoVar
CEP131_chr17_81184596_81227965	81208003	ACACACAC others(17): Show ACACACACCACTCACACCACACACC	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0090 a0001c0003t0002g0090	1	384	0.0026	-24	c.273 others(39): Show c.273-788_273-765delGGTGTGTGGTGTGAGTGGTGTGTG	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	3/25			chr17	TogoVar
CEP164_chr11_117322854_117418266	117376248	GTCCTGGA others(17): Show GTCCTGGAGGTTCACCTCTGACACC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0305 a0004c0004t0001g0305	1	390	0.0026	-24	c.131 others(41): Show c.1317+462_1317+485delGGAGGTTCACCTCTGACACCTCCT	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	11/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP250_chr20_35450598_35524280	35482048	AATAGATA others(17): Show AATAGATAGATAGATAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03927.hp2 HG02165.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0045 a0001c0003t0004 a0001c0003t0045	a0001c0003t0004g0124 a0001c0003t0045g0125 a0001c0003t0004g0124 a0001c0003t0045g0125	2	260	0.0077	-24	c.258 others(43): Show c.2586+1938_2586+1961delAGATAGATAGATAGATAGATAGAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP350_chr1_179949810_180119875	180004873	GGCTTGCT others(17): Show GGCTTGCTTGCTTGCTTGCTTGCTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp2 HG01258.hp2 others(8): Show HG01109.hp2 HG01256.hp2 HG01258.hp2 HG02257.hp2 HG02647.hp1 HG02886.hp1 HG03130.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp1 NA18522.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0004 a0007c0008t0006 a0002c0002t0004 a0007c0008t0006	a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 others(8): Show a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0004g0029 a0007c0008t0006g0013 a0007c0008t0006g0014 a0007c0008t0006g0015	11	248	0.0444	-24	c.113 others(43): Show c.1133-1568_1133-1545delGCTTGCTTGCTTGCTTGCTTGCTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180103953	CAAAATAT others(17): Show CAAAATATATACAAATATATATTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG02809.hp2 others(5): Show HG00738.hp2 HG01243.hp1 HG02809.hp2 HG03041.hp1 HG03540.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1	a0002 a0007 a0010 others(2): Show a0002 a0007 a0010 a0016 a0022	a0002c0002 a0002c0022 a0007c0031 others(3): Show a0002c0002 a0002c0022 a0007c0031 a0010c0029 a0016c0023 a0022c0028	a0002c0002t0002 a0002c0022t0002 a0007c0031t0006 others(3): Show a0002c0002t0002 a0002c0022t0002 a0007c0031t0006 a0010c0029t0010 a0016c0023t0002 a0022c0028t0010	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 others(5): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0022t0002g0002 a0007c0031t0006g0017 a0010c0029t0010g0011 a0016c0023t0002g0006 a0022c0028t0010g0012	8	248	0.0323	-24	c.918 others(43): Show c.9189+5031_9189+5054delTATATATTTTAAAATATATACAAA	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	37/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP57L1_chr6_109090507_109179418	109120912	GCACACAC others(17): Show GCACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01081.hp1 others(19): Show HG00099.hp1 HG00738.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02486.hp1 HG02630.hp2 HG02683.hp1 HG02738.hp2 HG03209.hp1 HG03453.hp2 HG03654.hp1 HG04184.hp1 NA19010.hp1 NA19060.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0044 a0001c0001t0049 a0001c0001t0056 a0001c0001t0061 a0001c0001t0067 a0001c0003t0002 a0001c0003t0005	a0001c0001t0001g0032 a0001c0001t0001g0195 a0001c0001t0001g0200 others(18): Show a0001c0001t0001g0032 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0005g0178 a0001c0001t0005g0184 a0001c0001t0005g0187 a0001c0001t0005g0192 a0001c0001t0007g0183 a0001c0001t0007g0207 a0001c0001t0011g0177 a0001c0001t0013g0190 a0001c0001t0022g0196 a0001c0001t0044g0120 a0001c0001t0049g0185 a0001c0001t0056g0202 a0001c0001t0061g0203 a0001c0001t0067g0186 a0001c0003t0002g0191 a0001c0003t0005g0003 a0001c0003t0005g0193 a0001c0003t0005g0201	22	228	0.0965	-24	c.-3- others(41): Show c.-3-24284_-3-24261delCACACACACACACACACACACACA	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109142946	GCTCTCTC others(17): Show GCTCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03579.hp2 NA20300.hp1 HG02630.hp1 HG03579.hp2 NA20300.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0005 a0006c0008 a0002c0002 a0003c0005 a0006c0008	a0002c0002t0085 a0003c0005t0035 a0006c0008t0077 a0002c0002t0085 a0003c0005t0035 a0006c0008t0077	a0002c0002t0085g0213 a0003c0005t0035g0215 a0006c0008t0077g0212 a0002c0002t0085g0213 a0003c0005t0035g0215 a0006c0008t0077g0212	3	228	0.0132	-24	c.-3- others(39): Show c.-3-2237_-3-2214delTCTCTCTCTCTCTCTCTCTCTCTC	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP85L_chr6_118455772_118656591	118459215	AGATTTTT others(17): Show AGATTTTTTCTTTTTGTGATCACAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0177 a0002c0002t0002g0177	1	302	0.0033	-24	c.61 others(35): Show c.6166_*6189delATGTGATCACAAAAAGAAAAAATC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding		1556		chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567233	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03139.hp1 HG03225.hp1 HG01952.hp2 HG03139.hp1 HG03225.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0006 a0001c0001t0001 a0004c0004t0006	a0001c0001t0001g0165 a0004c0004t0006g0045 a0004c0004t0006g0046 a0001c0001t0001g0165 a0004c0004t0006g0045 a0004c0004t0006g0046	3	302	0.0099	-24	c.233 others(39): Show c.233-941_233-918delTATATATACACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567235	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp2 HG01943.hp2 others(10): Show HG00741.hp2 HG01192.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02148.hp1 HG02280.hp1 HG02451.hp2 HG02647.hp2 HG02965.hp1 HG06807.hp1 NA18975.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0009	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0006c0006 a0009c0008	a0001c0001t0001 a0002c0002t0002 a0002c0002t0026 others(3): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0026 a0004c0004t0006 a0006c0006t0009 a0009c0008t0022	a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0120 others(10): Show a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0168 a0002c0002t0002g0279 a0002c0002t0026g0185 a0004c0004t0006g0048 a0004c0004t0006g0050 a0006c0006t0009g0288 a0009c0008t0022g0112	13	302	0.0431	-24	c.233 others(39): Show c.233-943_233-920delTATATATATACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567237	GTGTGTGT others(17): Show GTGTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00741.hp1 HG01069.hp1 others(23): Show HG00597.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01358.hp1 HG01496.hp1 HG01975.hp2 HG02027.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp1 HG03017.hp2 HG03209.hp1 HG03491.hp1 HG03540.hp1 HG04115.hp2 NA18906.hp2 NA18941.hp2 NA18964.hp2 NA18973.hp2 NA18982.hp1 NA18989.hp1 NA18992.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0006 a0002c0002 a0003c0003 a0006c0006	a0002c0002t0002 a0002c0002t0031 a0003c0003t0003 others(1): Show a0002c0002t0002 a0002c0002t0031 a0003c0003t0003 a0006c0006t0009	a0002c0002t0002g0173 a0002c0002t0002g0191 a0002c0002t0002g0196 others(23): Show a0002c0002t0002g0173 a0002c0002t0002g0191 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0221 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0278 a0002c0002t0002g0290 a0002c0002t0031g0302 a0003c0003t0003g0010 a0003c0003t0003g0039 a0006c0006t0009g0244	26	302	0.0861	-24	c.233 others(39): Show c.233-945_233-922delTATATATATATACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567239	GTGTGTGT others(17): Show GTGTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01255.hp1 HG01496.hp2 others(24): Show HG00544.hp2 HG01255.hp1 HG01496.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02723.hp1 HG02922.hp2 HG03098.hp2 HG03688.hp2 HG04228.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18957.hp1 NA18968.hp2 NA18978.hp1 NA18979.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19012.hp2 NA19030.hp1 NA19074.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0006 a0011	a0002c0002 a0003c0003 a0005c0005 others(2): Show a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0011c0011	a0002c0002t0002 a0002c0002t0029 a0002c0002t0030 others(5): Show a0002c0002t0002 a0002c0002t0029 a0002c0002t0030 a0003c0003t0002 a0003c0003t0003 a0005c0005t0008 a0006c0006t0009 a0011c0011t0008	a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0187 others(24): Show a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0187 a0002c0002t0002g0190 a0002c0002t0002g0192 a0002c0002t0002g0200 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0212 a0002c0002t0002g0220 a0002c0002t0002g0222 a0002c0002t0002g0225 a0002c0002t0002g0228 a0002c0002t0029g0210 a0002c0002t0030g0182 a0003c0003t0002g0219 a0003c0003t0002g0223 a0003c0003t0002g0232 a0003c0003t0003g0029 a0005c0005t0008g0295 a0005c0005t0008g0296 a0005c0005t0008g0297 a0005c0005t0008g0298 a0006c0006t0009g0247 a0011c0011t0008g0294	27	302	0.0894	-24	c.233 others(39): Show c.233-947_233-924delTATATATATATATACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567241	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0188 a0002c0002t0002g0188	1	302	0.0033	-24	c.233 others(39): Show c.233-949_233-926delTATATATATATATATACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26282320	TCCAGGAC others(17): Show TCCAGGACAGGGACTGGGGCCGGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(118): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18979.hp1 NA18991.hp2 NA19001.hp1 NA19002.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19055.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0012 others(1): Show a0001c0001 a0002c0002 a0002c0012 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0002c0002t0001 a0002c0002t0007 a0002c0002t0010 a0002c0012t0001 a0005c0006t0001	a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0178 others(115): Show a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 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 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0248 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0003g0138 a0001c0001t0012g0168 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0212 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0267 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0286 a0002c0002t0007g0004 a0002c0002t0007g0213 a0002c0002t0007g0238 a0002c0002t0007g0280 a0002c0002t0010g0283 a0002c0012t0001g0187 a0005c0006t0001g0260 a0005c0006t0001g0261 a0005c0006t0001g0278	121	342	0.3538	-24	c.50 others(35): Show c.5028_*5051delCCAGGACAGGGACTGGGGCCGGGA	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		3513		chr1	TogoVar
CEP85_chr1_26229200_26283808	26282328	AGGGACTG others(17): Show AGGGACTGGGGCCGGGACCGGGACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02818.hp2 HG03130.hp1 others(6): Show HG02809.hp2 HG02818.hp2 HG03130.hp1 HG04115.hp2 HG04228.hp1 NA19060.hp1 NA19070.hp2 NA19076.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0062 others(6): Show a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0062 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0170 a0001c0001t0003g0097 a0001c0001t0003g0162	9	342	0.0263	-24	c.50 others(35): Show c.5036_*5059delGGGACTGGGGCCGGGACCGGGACC	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		3521		chr1	TogoVar
CEP89_chr19_32870925_32976958	32892202	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	386	0.0026	-24	c.187 others(43): Show c.1876-4385_1876-4362delATATATATATATATATATATATAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	16/18			chr19	TogoVar
CER1_chr9_14714724_14727733	14719549	GCCTGCCT others(17): Show GCCTGCCTGCCTGCCTTCCTTCCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	460	0.0022	-24	c.51 others(33): Show c.517_*540delAAGGAAGGAAGGCAGGCAGGCAGG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		174		chr9	TogoVar
CER1_chr9_14714724_14727733	14719553	GCCTGCCT others(17): Show GCCTGCCTGCCTTCCTTCCTTCCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	460	0.0022	-24	c.51 others(33): Show c.513_*536delAAGGAAGGAAGGAAGGCAGGCAGG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		170		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437918	TACACGTA others(17): Show TACACGTATATACACGTATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00544.hp2 others(67): Show HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03139.hp2 HG03579.hp2 HG03710.hp1 HG03927.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18964.hp1 NA18971.hp2 NA18979.hp1 NA18986.hp1 NA18989.hp1 NA18992.hp2 NA18997.hp2 NA19007.hp2 NA19043.hp1 NA19066.hp2 NA19070.hp1 NA19087.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0007 a0002c0023	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0002c0007t0001 a0002c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0002t0001g0016 a0001c0006t0001g0018 a0001c0006t0001g0103 a0001c0006t0001g0145 a0002c0007t0001g0046 a0002c0007t0001g0204 a0002c0023t0001g0202	70	400	0.1750	-24	c.10 others(35): Show c.1071_*1094delACACGTATATACACGTATATACAC	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		572		chr9	TogoVar
CERKL_chr2_181531672_181662105	181602949	AAATTGCA others(17): Show AAATTGCATTATATTTGTACTTATG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0121 a0002c0003t0007g0121	1	298	0.0034	-24	c.481 others(39): Show c.481+864_481+887delCATAAGTACAAATATAATGCAATT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	2/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181650111	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0008 a0004c0007t0008	a0004c0007t0008g0093 a0004c0007t0008g0093	1	298	0.0034	-24	c.238 others(41): Show c.238+6634_238+6657delTCCTTCCTTCCTTCCTTCCTTCCT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS3_chr15_100395395_100533950	100415320	TATTGGGA others(17): Show TATTGGGAATGCAAATTAAACTTGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02559.hp2 others(11): Show HG02145.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0022 a0002c0002t0001 a0001c0001t0001 a0001c0003t0022 a0002c0002t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0141 others(11): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0141 a0001c0001t0001g0170 a0001c0001t0001g0184 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0003t0022g0350 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0057 a0002c0002t0001g0106	14	362	0.0387	-24	c.100 others(45): Show c.1000-12479_1000-12456delGCAAGTTTAATTTGCATTCCCAAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	11/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8248828	TGATGGGT others(17): Show TGATGGGTGGGTGGACAGATCTTTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG02015.hp1 others(24): Show HG00323.hp2 HG00621.hp1 HG02015.hp1 HG02074.hp1 HG02145.hp2 HG02155.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp2 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA18966.hp2 NA18974.hp1 NA19059.hp2 NA19078.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0015t0001	a0001c0001t0001g0408 a0001c0001t0002g0003 a0001c0001t0002g0135 others(24): Show a0001c0001t0001g0408 a0001c0001t0002g0003 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0258 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0302 a0001c0001t0002g0339 a0001c0001t0002g0388 a0001c0001t0002g0389 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0070 a0001c0001t0003g0105 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0131 a0001c0001t0003g0152 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0015t0001g0409	27	418	0.0646	-24	c.-1- others(39): Show c.-1-2233_-1-2210delCAGATCTTTGGATGGGTGGGTGGA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8248991	TGATGGGT others(17): Show TGATGGGTGGATGGACAGATGTTTG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02559.hp2 others(8): Show HG01081.hp2 HG02055.hp2 HG02559.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp1 HG03669.hp2 HG03704.hp2 NA20752.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0004 a0003c0007t0004 a0003c0007t0009 others(1): Show a0001c0002t0004 a0003c0007t0004 a0003c0007t0009 a0003c0007t0010	a0001c0002t0004g0231 a0003c0007t0004g0283 a0003c0007t0004g0299 others(8): Show a0001c0002t0004g0231 a0003c0007t0004g0283 a0003c0007t0004g0299 a0003c0007t0004g0300 a0003c0007t0004g0317 a0003c0007t0009g0120 a0003c0007t0009g0141 a0003c0007t0009g0387 a0003c0007t0010g0006 a0003c0007t0010g0032 a0003c0007t0010g0033	11	418	0.0263	-24	c.-1- others(39): Show c.-1-2070_-1-2047delCAGATGTTTGGATGGGTGGATGGA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8249175	GTGGACAG others(17): Show GTGGACAGATGTTTGGATGGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02559.hp2 others(8): Show HG01081.hp2 HG02055.hp2 HG02559.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp1 HG03669.hp2 HG03704.hp2 NA20752.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0004 a0003c0007t0004 a0003c0007t0009 others(1): Show a0001c0002t0004 a0003c0007t0004 a0003c0007t0009 a0003c0007t0010	a0001c0002t0004g0231 a0003c0007t0004g0283 a0003c0007t0004g0299 others(8): Show a0001c0002t0004g0231 a0003c0007t0004g0283 a0003c0007t0004g0299 a0003c0007t0004g0300 a0003c0007t0004g0317 a0003c0007t0009g0120 a0003c0007t0009g0141 a0003c0007t0009g0387 a0003c0007t0010g0006 a0003c0007t0010g0032 a0003c0007t0010g0033	11	418	0.0263	-24	c.-1- others(39): Show c.-1-1895_-1-1872delAGATGTTTGGATGGGTGGATGGAC	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS6_chr2_168451272_168780134	168746798	TATATATA others(17): Show TATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02109.hp1 HG02615.hp1 others(6): Show HG01074.hp2 HG02109.hp1 HG02615.hp1 HG02976.hp1 HG03453.hp2 HG03486.hp1 NA18522.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020	a0001c0001t0011g0011 a0001c0001t0011g0042 a0001c0001t0011g0069 others(6): Show a0001c0001t0011g0011 a0001c0001t0011g0042 a0001c0001t0011g0069 a0001c0001t0011g0080 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0011g0112 a0001c0001t0018g0079 a0001c0001t0020g0164	9	176	0.0511	-24	c.846 others(43): Show c.846-18792_846-18769delTATATATATATATATATATATAAA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75375582	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02886.hp2 HG03098.hp1 others(2): Show HG01243.hp2 HG02886.hp2 HG03098.hp1 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 others(2): Show a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298	5	336	0.0149	-24	c.37 others(35): Show c.3740_*3763delATTTATTTATTTATTTATTTATTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding		2192		chr5	TogoVar
CERT1_chr5_75372775_75516629	75388599	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp1 HG03453.hp1 others(1): Show HG02970.hp2 HG03098.hp1 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0002t0001g0032 others(1): Show a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0002t0001g0032 a0001c0002t0001g0041	4	336	0.0119	-24	c.128 others(41): Show c.1284+969_1284+992delATATATATATATATATATATATAT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	12/16			chr5	TogoVar
CES1_chr16_55797851_55838096	55798424	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02129.hp1 HG02129.hp2 others(3): Show HG00408.hp2 HG02129.hp1 HG02129.hp2 NA18943.hp2 NA18969.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0001c0001t0001 a0001c0001t0004 a0002c0002t0002	a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0060 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0004g0005 a0002c0002t0002g0075 a0002c0002t0002g0076	6	87	0.0690	-24	c.46 others(35): Show c.4601_*4624delTTTCTTTCTTTCTTTCTTTCTTTC	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding		4426		chr16	TogoVar
CETN1_chr18_575380_587114	576446	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	-24	c.-39 others(35): Show c.-3962_-3939delAGGAAGGAAGGAAGGAAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3933		chr18	TogoVar
CETP_chr16_56956950_56988845	56963990	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00609.hp1 others(71): Show HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01255.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02055.hp2 HG02074.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 NA18947.hp2 NA18969.hp1 NA18972.hp2 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19001.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0006c0011 a0009c0017 a0009c0018	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001 a0006c0011t0001 a0009c0017t0002 a0009c0018t0002	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0027 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0089 a0001c0001t0001g0173 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0300 a0002c0002t0001g0030 a0002c0002t0001g0067 a0002c0002t0001g0166 a0002c0002t0001g0204 a0002c0002t0001g0227 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0002g0029 a0003c0004t0001g0010 a0003c0004t0001g0217 a0003c0004t0001g0220 a0003c0004t0001g0228 a0006c0011t0001g0058 a0006c0011t0001g0223 a0009c0017t0002g0234 a0009c0018t0002g0231	74	462	0.1602	-24	c.233 others(39): Show c.233+897_233+920delTATTTATTTATTTATTTATTTATT	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CFAP100_chr3_126389909_126441556	126401397	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02717.hp2 HG00597.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0244 a0001c0002t0001g0032 a0001c0001t0001g0244 a0001c0002t0001g0032	2	422	0.0047	-24	c.49+ others(39): Show c.49+5371_49+5394delTATATATATATATATATATATATA	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP141_chr1_154194085_154211333	154203172	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp1 HG03041.hp1 others(4): Show HG02280.hp2 HG02886.hp1 HG03041.hp1 HG03710.hp1 NA18959.hp1 NA19010.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0112 others(4): Show a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0143	7	372	0.0188	-24	c.74+ others(39): Show c.74+2402_74+2425delATATATATATATATATATATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP161_chr15_81129270_81154179	81133176	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02055.hp2 HG02622.hp2 others(3): Show HG00609.hp1 HG02055.hp2 HG02622.hp2 HG02896.hp1 HG03041.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0222 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0239	6	448	0.0134	-24	c.-11 others(35): Show c.-1153_-1130delATATATATATATATATATATATAT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1093		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81133201	ATATATAT others(17): Show ATATATATATATATATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA19006.hp2 HG00609.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0127 a0001c0001t0001g0018 a0001c0001t0001g0127	2	448	0.0045	-24	c.-11 others(35): Show c.-1128_-1105delTATATATATATATATATATATATG	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1068		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81146831	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00639.hp2 others(52): Show HG00423.hp1 HG00597.hp1 HG00639.hp2 HG00741.hp2 HG01070.hp1 HG01167.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp1 HG02109.hp1 HG02129.hp2 HG02257.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03471.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA18948.hp2 NA18957.hp2 NA18983.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp1 NA19005.hp1 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0013 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0206 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0267 a0001c0001t0001g0291 a0001c0001t0002g0075 a0001c0001t0005g0013 a0001c0001t0005g0144 a0002c0002t0001g0288	55	448	0.1228	-24	c.637 others(39): Show c.637-998_637-975delATATATATATATATATATATATAT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
CFAP20DC_chr3_58737008_59055025	58963190	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG02717.hp2 others(9): Show HG02280.hp1 HG02630.hp2 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0002c0003 a0004c0006 others(1): Show a0001c0001 a0002c0003 a0004c0006 a0011c0016	a0001c0001t0001 a0002c0003t0001 a0004c0006t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0004c0006t0001 a0011c0016t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0002c0003t0001g0177 others(9): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0002c0003t0001g0177 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0004c0006t0001g0169 a0004c0006t0001g0170 a0004c0006t0001g0171 a0011c0016t0001g0191	12	204	0.0588	-24	c.279 others(43): Show c.279-25452_279-25429delCACACACACACACACACACACACA	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16			chr3	TogoVar

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