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
CEP128_chr14_80491479_80946738	80681007	GTATATAC others(9): Show GTATATACCATGCTGGC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02615.hp1 others(5): Show HG01891.hp1 HG02109.hp1 HG02615.hp1 HG03139.hp2 HG06807.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0008 a0001c0009 others(1): Show a0001c0001 a0001c0008 a0001c0009 a0007c0010	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0008t0005 a0001c0009t0006 a0007c0010t0005	a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0005g0002 others(5): Show a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0005g0002 a0001c0001t0006g0155 a0001c0008t0005g0017 a0001c0009t0006g0153 a0001c0009t0006g0154 a0007c0010t0005g0056	8	164	0.0488	-16	c.280 others(37): Show c.2806+62052_2806+62067delGCCAGCATGGTATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80733339	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02602.hp2 HG03540.hp2 others(1): Show HG02109.hp1 HG02602.hp2 HG03540.hp2 NA18522.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0008 a0002c0002 a0007c0010 a0001c0008 a0002c0002 a0007c0010	a0001c0008t0005 a0002c0002t0003 a0007c0010t0001 a0001c0008t0005 a0002c0002t0003 a0007c0010t0001	a0001c0008t0005g0017 a0001c0008t0005g0018 a0002c0002t0003g0141 others(1): Show a0001c0008t0005g0017 a0001c0008t0005g0018 a0002c0002t0003g0141 a0007c0010t0001g0057	4	164	0.0244	-16	c.280 others(35): Show c.2806+9720_2806+9735delACACACACACACACAC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80740494	CTAGATAG others(9): Show CTAGATAGATAGATAGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG01433.hp2 others(4): Show HG00642.hp2 HG01175.hp1 HG01433.hp2 HG02132.hp2 HG02602.hp1 HG02615.hp1 NA19240.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0010 a0001c0001 a0003c0003 a0007c0010	a0001c0001t0002 a0001c0001t0005 a0003c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0005 a0003c0003t0002 a0003c0003t0006 a0007c0010t0005	a0001c0001t0002g0112 a0001c0001t0005g0002 a0003c0003t0002g0120 others(4): Show a0001c0001t0002g0112 a0001c0001t0005g0002 a0003c0003t0002g0120 a0003c0003t0002g0127 a0003c0003t0002g0164 a0003c0003t0006g0116 a0007c0010t0005g0056	7	164	0.0427	-16	c.280 others(35): Show c.2806+2565_2806+2580delTCTATCTATCTATCTA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80740535	TAGATAGA others(9): Show TAGATAGATAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0142 a0002c0002t0004g0142	1	164	0.0061	-16	c.280 others(35): Show c.2806+2524_2806+2539delGTCTGTCTATCTATCT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80821600	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG00741.hp2 others(41): Show HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01433.hp1 HG01515.hp1 HG01934.hp1 HG02040.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18942.hp1 NA18960.hp2 NA18995.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19072.hp1 NA19079.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0012 a0001c0015 others(2): Show a0001c0001 a0001c0012 a0001c0015 a0005c0005 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0012t0001 a0001c0015t0001 a0005c0005t0001 a0005c0005t0011 a0007c0010t0001 a0007c0010t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0002g0128 a0001c0001t0005g0002 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0036 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0012t0001g0049 a0001c0015t0001g0048 a0005c0005t0001g0028 a0005c0005t0001g0055 a0005c0005t0011g0044 a0007c0010t0001g0057 a0007c0010t0005g0056	44	164	0.2683	-16	c.120 others(35): Show c.1209+9527_1209+9542delGTGTGTGTGTGTGTGT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	13/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80821628	CACACACA others(9): Show CACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	164	0.0061	-16	c.120 others(35): Show c.1209+9499_1209+9514delATGTGTGTGTGTGTGT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	13/24			chr14	TogoVar
CEP131_chr17_81184596_81227965	81204726	GCACCTGC others(9): Show GCACCTGCACCGGACCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02630.hp1 others(8): Show HG01891.hp2 HG02572.hp1 HG02630.hp1 HG02735.hp2 HG03139.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03834.hp2 HG04115.hp1 NA21309.hp2	a0010 a0026 a0031 others(4): Show a0010 a0026 a0031 a0042 a0043 a0044 a0048	a0010c0013 a0026c0034 a0031c0043 others(4): Show a0010c0013 a0026c0034 a0031c0043 a0042c0029 a0043c0068 a0044c0067 a0048c0072	a0010c0013t0004 a0026c0034t0003 a0031c0043t0001 others(4): Show a0010c0013t0004 a0026c0034t0003 a0031c0043t0001 a0042c0029t0001 a0043c0068t0004 a0044c0067t0001 a0048c0072t0001	a0010c0013t0004g0335 a0010c0013t0004g0336 a0010c0013t0004g0337 others(8): Show a0010c0013t0004g0335 a0010c0013t0004g0336 a0010c0013t0004g0337 a0010c0013t0004g0338 a0010c0013t0004g0339 a0026c0034t0003g0307 a0031c0043t0001g0248 a0042c0029t0001g0303 a0043c0068t0004g0334 a0044c0067t0001g0127 a0048c0072t0001g0305	11	384	0.0287	-16	c.516 others(33): Show c.516-1135_516-1120delTGGTCCGGTGCAGGTG	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	5/25			chr17	TogoVar
CEP131_chr17_81184596_81227965	81216935	ACACCACG others(9): Show ACACCACGGTGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03239.hp1 HG03491.hp2 others(3): Show HG02735.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03834.hp2 HG04115.hp1	a0010 a0043 a0010 a0043	a0010c0013 a0043c0068 a0010c0013 a0043c0068	a0010c0013t0004 a0043c0068t0004 a0010c0013t0004 a0043c0068t0004	a0010c0013t0004g0335 a0010c0013t0004g0336 a0010c0013t0004g0337 others(3): Show a0010c0013t0004g0335 a0010c0013t0004g0336 a0010c0013t0004g0337 a0010c0013t0004g0338 a0010c0013t0004g0339 a0043c0068t0004g0334	6	384	0.0156	-16	c.177 others(33): Show c.177+2929_177+2944delCCTTTCCACCGTGGTG	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP135_chr4_55943945_56038361	55961764	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0116 a0001c0001t0022g0116	1	346	0.0029	-16	c.699 others(33): Show c.699+2014_699+2029delAAAAAAAAAAAAAAAA	CEP135	ENSG00000174799.12	transcript	ENST00000257287.5	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP162_chr6_84119250_84232643	84154312	ATATCTAT others(9): Show ATATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02258.hp2 others(13): Show HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 NA18906.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0005 a0001c0008 a0005c0010 others(1): Show a0001c0005 a0001c0008 a0005c0010 a0008c0014	a0001c0005t0004 a0001c0005t0005 a0001c0008t0005 others(2): Show a0001c0005t0004 a0001c0005t0005 a0001c0008t0005 a0005c0010t0002 a0008c0014t0004	a0001c0005t0004g0005 a0001c0005t0004g0085 a0001c0005t0004g0086 others(13): Show a0001c0005t0004g0005 a0001c0005t0004g0085 a0001c0005t0004g0086 a0001c0005t0004g0105 a0001c0005t0004g0106 a0001c0005t0004g0107 a0001c0005t0004g0195 a0001c0005t0004g0198 a0001c0005t0005g0208 a0001c0008t0005g0203 a0001c0008t0005g0204 a0001c0008t0005g0205 a0001c0008t0005g0206 a0005c0010t0002g0163 a0005c0010t0002g0164 a0008c0014t0004g0115	16	214	0.0748	-16	c.299 others(33): Show c.2994+970_2994+985delGATAGATAGATAGATA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	22/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84159547	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG00741.hp2 others(21): Show HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01169.hp1 HG01358.hp2 HG01515.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG02056.hp1 HG02080.hp2 HG02273.hp2 HG02922.hp1 HG03239.hp2 HG03654.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18971.hp2 NA18999.hp2 NA19056.hp1 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0004t0002	a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0027 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0006g0060 a0001c0001t0006g0093 a0001c0001t0009g0122 a0001c0004t0002g0210 a0001c0004t0002g0211	24	214	0.1122	-16	c.278 others(35): Show c.2781+1249_2781+1264delAAAAAAAAAAAAAAAA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP170_chr1_243119428_243260281	243178308	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	303	0.0033	-16	c.156 others(35): Show c.1567-5478_1567-5463delTTTTTTTTTTTTTTTT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	10/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243249418	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG01981.hp1 others(31): Show HG01106.hp1 HG01884.hp2 HG01981.hp1 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA19240.hp1 NA20300.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0007 a0001c0014 others(3): Show a0001c0001 a0001c0007 a0001c0014 a0003c0003 a0003c0009 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0007t0001 a0001c0014t0001 a0003c0003t0003 a0003c0009t0003 a0006c0008t0002	a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 others(31): Show a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0009 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0008g0104 a0001c0007t0001g0099 a0001c0007t0001g0100 a0001c0014t0001g0110 a0003c0003t0003g0103 a0003c0003t0003g0107 a0003c0003t0003g0149 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0003g0153 a0003c0003t0003g0154 a0003c0003t0003g0155 a0003c0003t0003g0156 a0003c0003t0003g0157 a0003c0003t0003g0161 a0003c0009t0003g0108 a0003c0009t0003g0109 a0006c0008t0002g0101 a0006c0008t0002g0102	34	303	0.1122	-16	c.-42 others(33): Show c.-42+5606_-42+5621delATTTATTTATTTATTT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP192_chr18_12986362_13130036	13013203	GGGTAGTG others(9): Show GGGTAGTGCTGGTGCCT	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02257.hp2 HG02486.hp2 others(12): Show HG01952.hp2 HG02257.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1 NA18906.hp2	a0006 a0007 a0006 a0007	a0006c0006 a0007c0007 a0006c0006 a0007c0007	a0006c0006t0002 a0007c0007t0002 a0006c0006t0002 a0007c0007t0002	a0006c0006t0002g0025 a0006c0006t0002g0035 a0006c0006t0002g0036 others(11): Show a0006c0006t0002g0025 a0006c0006t0002g0035 a0006c0006t0002g0036 a0006c0006t0002g0038 a0006c0006t0002g0039 a0007c0007t0002g0006 a0007c0007t0002g0023 a0007c0007t0002g0024 a0007c0007t0002g0026 a0007c0007t0002g0027 a0007c0007t0002g0028 a0007c0007t0002g0029 a0007c0007t0002g0030 a0007c0007t0002g0031	15	392	0.0383	-16	c.519 others(31): Show c.519+181_519+196delTAGTGCTGGTGCCTGG	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP350_chr1_179949810_180119875	179991667	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	248	0.0040	-16	c.236 others(31): Show c.236-369_236-354delGTGTGTGTGTGTGTGT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004873	GGCTTGCT others(9): Show GGCTTGCTTGCTTGCTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp2 HG01516.hp2 others(4): Show HG00597.hp1 HG01069.hp2 HG01516.hp2 HG02129.hp1 HG03098.hp2 HG04228.hp1 NA18948.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0002 a0017c0021 a0001c0001 a0002c0002 a0017c0021	a0001c0001t0001 a0002c0002t0004 a0017c0021t0004 a0001c0001t0001 a0002c0002t0004 a0017c0021t0004	a0001c0001t0001g0154 a0001c0001t0001g0173 a0001c0001t0001g0226 others(4): Show a0001c0001t0001g0154 a0001c0001t0001g0173 a0001c0001t0001g0226 a0002c0002t0004g0020 a0002c0002t0004g0024 a0002c0002t0004g0033 a0017c0021t0004g0031	7	248	0.0282	-16	c.113 others(35): Show c.1133-1560_1133-1545delGCTTGCTTGCTTGCTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004894	GCTTGCTT others(9): Show GCTTGCTTGCTTGCTTT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0232 a0006c0006t0002g0232	1	248	0.0040	-16	c.113 others(35): Show c.1133-1556_1133-1541delGCTTGCTTGCTTTCTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004902	GCTTGCTT others(9): Show GCTTGCTTTCTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0080 a0003c0003t0002g0080	1	248	0.0040	-16	c.113 others(35): Show c.1133-1548_1133-1533delGCTTTCTTTCTTTCTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180015210	GTTTATTT others(9): Show GTTTATTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show HG01243.hp1 HG02809.hp2 HG03041.hp1 HG03540.hp1 NA19240.hp1	a0002 a0016 a0002 a0016	a0002c0002 a0002c0022 a0016c0023 a0002c0002 a0002c0022 a0016c0023	a0002c0002t0002 a0002c0022t0002 a0016c0023t0002 a0002c0002t0002 a0002c0022t0002 a0016c0023t0002	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 others(2): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0022t0002g0002 a0016c0023t0002g0006	5	248	0.0202	-16	c.205 others(33): Show c.2053-611_2053-596delATTTATTTATTTATTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	10/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP41_chr7_130388771_130446016	130392347	GACACACA others(9): Show GACACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01934.hp1 HG02165.hp2 others(3): Show HG00558.hp2 HG01934.hp1 HG02165.hp2 NA18969.hp2 NA18983.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0007 a0001c0001t0013g0028 a0001c0001t0013g0029 others(2): Show a0001c0001t0013g0007 a0001c0001t0013g0028 a0001c0001t0013g0029 a0001c0001t0013g0030 a0001c0001t0013g0168	6	346	0.0173	-16	c.65 others(27): Show c.6528_*6543delGTGTGTGTGTGTGTGT	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding		1423		chr7	TogoVar
CEP57L1_chr6_109090507_109179418	109136697	GTATTTTT others(9): Show GTATTTTTATTTTATTT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0075 a0002c0002t0086 a0002c0002t0075 a0002c0002t0086	a0002c0002t0075g0008 a0002c0002t0086g0007 a0002c0002t0075g0008 a0002c0002t0086g0007	2	228	0.0088	-16	c.-3- others(31): Show c.-3-8515_-3-8500delTATTTTATTTTATTTT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109142946	GCTCTCTC others(9): Show GCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG06807.hp1 NA19240.hp1 others(1): Show HG03654.hp1 HG06807.hp1 NA19240.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0004 a0001c0001 a0001c0003 a0004c0004	a0001c0001t0021 a0001c0001t0087 a0001c0003t0005 others(1): Show a0001c0001t0021 a0001c0001t0087 a0001c0003t0005 a0004c0004t0001	a0001c0001t0021g0216 a0001c0001t0087g0159 a0001c0003t0005g0193 others(1): Show a0001c0001t0021g0216 a0001c0001t0087g0159 a0001c0003t0005g0193 a0004c0004t0001g0137	4	228	0.0175	-16	c.-3- others(31): Show c.-3-2229_-3-2214delTCTCTCTCTCTCTCTC	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP57L1_chr6_109090507_109179418	109152636	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG02004.hp1 others(6): Show HG01109.hp1 HG01261.hp1 HG02004.hp1 HG02027.hp2 HG02698.hp1 HG03239.hp2 HG03490.hp1 NA18977.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0047 a0001c0001t0048 a0001c0001t0054	a0001c0001t0005g0178 a0001c0001t0006g0167 a0001c0001t0006g0168 others(6): Show a0001c0001t0005g0178 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0015g0175 a0001c0001t0047g0171 a0001c0001t0048g0170 a0001c0001t0054g0169	9	228	0.0395	-16	c.463 others(33): Show c.463-1168_463-1153delGTGTGTGTGTGTGTGT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP63_chr3_134481057_134570031	134551740	TATATATA others(9): Show TATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00733.hp1 others(82): Show HG00280.hp1 HG00423.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG02015.hp1 HG02071.hp2 HG02145.hp2 HG02258.hp1 HG02273.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18951.hp1 NA18962.hp2 NA18974.hp2 NA18982.hp1 NA18986.hp2 NA18988.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19076.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0006 a0004c0007 a0005c0013 a0007c0009 a0008c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 others(12): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 a0001c0001t0029 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0023 a0001c0004t0003 a0002c0002t0001 a0003c0006t0001 a0004c0007t0003 a0005c0013t0007 a0007c0009t0001 a0008c0008t0003	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(80): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0015g0144 a0001c0001t0015g0145 a0001c0001t0029g0136 a0001c0003t0001g0006 a0001c0003t0001g0134 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0143 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0156 a0001c0003t0003g0157 a0001c0003t0003g0158 a0001c0003t0003g0160 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0175 a0001c0003t0003g0176 a0001c0003t0003g0177 a0001c0003t0003g0179 a0001c0003t0003g0181 a0001c0003t0003g0185 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0003g0191 a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0003t0003g0196 a0001c0003t0003g0197 a0001c0003t0003g0200 a0001c0003t0003g0201 a0001c0003t0003g0202 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0003g0205 a0001c0003t0008g0007 a0001c0003t0008g0180 a0001c0003t0008g0199 a0001c0003t0023g0173 a0001c0004t0003g0190 a0001c0004t0003g0192 a0001c0004t0003g0193 a0002c0002t0001g0258 a0003c0006t0001g0220 a0004c0007t0003g0186 a0005c0013t0007g0112 a0007c0009t0001g0135 a0008c0008t0003g0182	85	322	0.2640	-16	c.138 others(33): Show c.1381-184_1381-169delTATATATATATATACA	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP72_chr5_607340_658553	651049	CTGTGAGG others(9): Show CTGTGAGGTGTGGACTG	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA19010.hp1 NA20129.hp1 HG01256.hp2 NA19010.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0020 a0003c0003t0002g0023 a0003c0003t0002g0026 a0003c0003t0002g0020 a0003c0003t0002g0023 a0003c0003t0002g0026	3	91	0.0330	-16	c.177 others(35): Show c.1779-1936_1779-1921delTGAGGTGTGGACTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP76_chr18_12667625_12707723	12668597	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00735.hp1 others(30): Show HG00280.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01123.hp2 HG01256.hp2 HG01258.hp2 HG02055.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02683.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG04199.hp2 NA19002.hp2 NA19060.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0006c0006t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(27): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0006g0047 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0008g0196 a0006c0006t0001g0057	33	380	0.0868	-16	c.47 others(27): Show c.4752_*4767delTTTTTTTTTTTTTTTT	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		4027		chr18	TogoVar
CEP85L_chr6_118455772_118656591	118540754	TTAAATAA others(9): Show TTAAATAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0285 a0002c0002t0005g0285	1	302	0.0033	-16	c.102 others(37): Show c.1021-16850_1021-16835delTTTATTTATTTATTTA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118558626	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG02451.hp1 HG03195.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0011 a0007c0007t0011	a0007c0007t0011g0255 a0007c0007t0011g0256 a0007c0007t0011g0255 a0007c0007t0011g0256	2	302	0.0066	-16	c.102 others(35): Show c.1020+6887_1020+6902delGTGTGTGTGTGTGTGT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118558646	CACACACA others(9): Show CACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp2 HG03130.hp1 others(1): Show HG02886.hp2 HG02965.hp2 HG03130.hp1 HG03209.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0011 a0007c0007t0013 a0007c0007t0011 a0007c0007t0013	a0007c0007t0011g0253 a0007c0007t0011g0254 a0007c0007t0013g0180 others(1): Show a0007c0007t0011g0253 a0007c0007t0011g0254 a0007c0007t0013g0180 a0007c0007t0013g0181	4	302	0.0133	-16	c.102 others(35): Show c.1020+6867_1020+6882delCTGTGTGTGTGTGTGT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567205	ATGTATGT others(9): Show ATGTATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	302	0.0033	-16	c.233 others(31): Show c.233-905_233-890delCACACACACACATACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567209	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	302	0.0033	-16	c.233 others(31): Show c.233-909_233-894delCACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567235	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG01993.hp1 others(4): Show HG00099.hp2 HG00423.hp1 HG01993.hp1 HG02040.hp2 NA18951.hp2 NA19007.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0106 others(4): Show a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0171	7	302	0.0232	-16	c.233 others(31): Show c.233-935_233-920delTACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567239	GTGTGTGT others(9): Show GTGTGTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG02451.hp1 HG03195.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0011 a0007c0007t0011	a0007c0007t0011g0255 a0007c0007t0011g0256 a0007c0007t0011g0255 a0007c0007t0011g0256	2	302	0.0066	-16	c.233 others(31): Show c.233-939_233-924delTATATACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567241	GTGTGTGT others(9): Show GTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03209.hp2 HG02886.hp2 HG03209.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0013 a0007c0007t0013	a0007c0007t0013g0180 a0007c0007t0013g0181 a0007c0007t0013g0180 a0007c0007t0013g0181	2	302	0.0066	-16	c.233 others(31): Show c.233-941_233-926delTATATATACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118632113	TCAAGTAG others(9): Show TCAAGTAGCTGGGACTA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0249 a0002c0002t0002g0249	1	302	0.0033	-16	c.232 others(31): Show c.232+324_232+339delTAGTCCCAGCTACTTG	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118651683	CGGGGCGG others(9): Show CGGGGCGGGGACTGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG00639.hp1 others(50): Show HG00280.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02717.hp2 HG02723.hp1 HG02976.hp1 HG03098.hp2 HG03490.hp2 HG03491.hp2 HG03927.hp1 HG04115.hp2 NA18522.hp2 NA18951.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18990.hp1 NA19007.hp1 NA19030.hp1 NA19062.hp2 NA19081.hp2 NA20300.hp2	a0003 a0005 a0007 others(2): Show a0003 a0005 a0007 a0010 a0011	a0003c0003 a0005c0005 a0007c0007 others(2): Show a0003c0003 a0005c0005 a0007c0007 a0010c0010 a0011c0011	a0003c0003t0003 a0003c0003t0016 a0005c0005t0008 others(4): Show a0003c0003t0003 a0003c0003t0016 a0005c0005t0008 a0005c0005t0015 a0007c0007t0019 a0010c0010t0003 a0011c0011t0008	a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 others(50): Show a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0016g0011 a0005c0005t0008g0250 a0005c0005t0008g0251 a0005c0005t0008g0252 a0005c0005t0008g0286 a0005c0005t0008g0287 a0005c0005t0008g0295 a0005c0005t0008g0296 a0005c0005t0008g0297 a0005c0005t0008g0298 a0005c0005t0015g0300 a0005c0005t0015g0301 a0007c0007t0019g0299 a0010c0010t0003g0015 a0011c0011t0008g0294	53	302	0.1755	-16	c.-43 others(25): Show c.-430_-415delCCGCAGTCCCCGCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding		93		chr6	TogoVar
CEP85_chr1_26229200_26283808	26250925	CTTTTTTC others(9): Show CTTTTTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	342	0.0029	-16	c.209 others(33): Show c.209-4239_209-4224delCTTTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP89_chr19_32870925_32976958	32892202	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0000 a0000	a0000c0012 a0000c0012	a0000c0012t0021 a0000c0012t0021	a0000c0012t0021g0015 a0000c0012t0021g0015	1	386	0.0026	-16	c.187 others(35): Show c.1876-4377_1876-4362delATATATATATATATAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	16/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32927902	GCTTTTTT others(9): Show GCTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19010.hp1 NA19054.hp1 NA18954.hp1 NA19010.hp1 NA19054.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0074 a0001c0004t0001g0171 a0001c0004t0001g0198 a0001c0004t0001g0074 a0001c0004t0001g0171 a0001c0004t0001g0198	3	386	0.0078	-16	c.103 others(33): Show c.1030-934_1030-919delAAAAAAAAAAAAAAAG	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	9/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32951511	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	386	0.0026	-16	c.492 others(33): Show c.492+2088_492+2103delTATATATATATATATA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	4/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32951520	TATATATA others(9): Show TATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02615.hp2 others(4): Show HG02257.hp2 HG02280.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG03139.hp1 HG03209.hp2	a0000 a0003 a0000 a0003	a0000c0012 a0003c0003 a0003c0019 a0000c0012 a0003c0003 a0003c0019	a0000c0012t0021 a0003c0003t0003 a0003c0019t0012 a0000c0012t0021 a0003c0003t0003 a0003c0019t0012	a0000c0012t0021g0015 a0003c0003t0003g0212 a0003c0003t0003g0213 others(4): Show a0000c0012t0021g0015 a0003c0003t0003g0212 a0003c0003t0003g0213 a0003c0003t0003g0214 a0003c0003t0003g0217 a0003c0003t0003g0306 a0003c0019t0012g0364	7	386	0.0181	-16	c.492 others(33): Show c.492+2079_492+2094delGTATATATATATATAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	4/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32963941	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0260 a0003c0003t0003g0260	1	386	0.0026	-16	c.146 others(33): Show c.146+2403_146+2418delGTGTGTGTGTGTGTGT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	2/18			chr19	TogoVar
CER1_chr9_14714724_14727733	14719549	GCCTGCCT others(9): Show GCCTGCCTGCCTGCCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	460	0.0022	-16	c.52 others(25): Show c.525_*540delAAGGCAGGCAGGCAGG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		174		chr9	TogoVar
CER1_chr9_14714724_14727733	14719553	GCCTGCCT others(9): Show GCCTGCCTGCCTTCCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(23): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01175.hp1 HG01256.hp2 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02273.hp2 HG02293.hp2 NA18942.hp1 NA18950.hp2 NA18951.hp1 NA18983.hp1 NA19001.hp2 NA19240.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0006	a0001c0001t0001g0001 a0001c0001t0001g0025 a0002c0002t0001g0002 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0002c0002t0001g0002 a0002c0002t0001g0005 a0003c0003t0001g0003 a0003c0003t0001g0039 a0003c0003t0006g0040	26	460	0.0565	-16	c.52 others(25): Show c.521_*536delAAGGAAGGCAGGCAGG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		170		chr9	TogoVar
CER1_chr9_14714724_14727733	14719557	GCCTGCCT others(9): Show GCCTGCCTTCCTTCCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01257.hp1 others(5): Show HG00735.hp2 HG01109.hp2 HG01257.hp1 HG02818.hp1 HG03710.hp1 NA18981.hp2 NA19066.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0001c0001t0001 a0002c0002t0001 a0002c0007t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0005 others(2): Show a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0020 a0002c0007t0001g0031	8	460	0.0174	-16	c.51 others(25): Show c.517_*532delAAGGAAGGAAGGCAGG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		166		chr9	TogoVar
CER1_chr9_14714724_14727733	14719619	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	460	0.0022	-16	c.45 others(25): Show c.455_*470delGGAAGGAAGGAAGGAA	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		104		chr9	TogoVar
CERKL_chr2_181531672_181662105	181536033	TTAAAGCC others(9): Show TTAAAGCCCTTTATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0035 a0001c0002t0003g0035	1	298	0.0034	-16	c.21 others(27): Show c.2135_*2150delTAAATAAAGGGCTTTA	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding		638		chr2	TogoVar
CERKL_chr2_181531672_181662105	181537717	TGTGTGTC others(9): Show TGTGTGTCCAATAAACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0165 a0001c0001t0017g0165	1	298	0.0034	-16	c.45 others(25): Show c.451_*466delTGTTTATTGGACACAC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	13/13	451		chr2	TogoVar
CERKL_chr2_181531672_181662105	181641330	TATATATA others(9): Show TATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG03486.hp2 HG02109.hp1 HG02572.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0007 a0002c0003t0020 a0001c0002t0003 a0002c0003t0007 a0002c0003t0020	a0001c0002t0003g0041 a0002c0003t0007g0135 a0002c0003t0020g0137 a0001c0002t0003g0041 a0002c0003t0007g0135 a0002c0003t0020g0137	3	298	0.0101	-16	c.238 others(35): Show c.238+15423_238+15438delGTATATATATATATAT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181650103	GAGGGAGG others(9): Show GAGGGAGGGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01978.hp1 HG02056.hp2 others(13): Show HG01516.hp1 HG01978.hp1 HG02056.hp2 HG02165.hp2 HG02293.hp1 HG02615.hp1 HG02970.hp2 HG03195.hp1 HG03834.hp1 HG03942.hp2 HG04228.hp2 NA18969.hp2 NA18982.hp1 NA19011.hp2 NA19066.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0004t0004	a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0144 others(13): Show a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0144 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0003g0163 a0001c0001t0017g0165 a0001c0002t0001g0057 a0001c0002t0001g0070 a0001c0002t0002g0071 a0001c0002t0003g0049 a0002c0004t0004g0166 a0002c0004t0004g0167	16	298	0.0537	-16	c.238 others(33): Show c.238+6650_238+6665delTCCTTCCTCCCTCCCT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar

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