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
CEL_chr9_133056981_133076861	133075165	ACAAAAAT others(9): Show ACAAAAATTTAGCTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG02965.hp2 HG02970.hp1	a0057 a0059 a0057 a0059	a0057c0050 a0059c0052 a0057c0050 a0059c0052	a0057c0050t0001 a0059c0052t0001 a0057c0050t0001 a0059c0052t0001	a0057c0050t0001g0025 a0059c0052t0001g0025 a0057c0050t0001g0025 a0059c0052t0001g0025	2	416	0.0048	-16	c.34 others(27): Show c.3402_*3417delCAAAAATTTAGCTGGG	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding		3305		chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71694099	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	320	0.0063	-16	c.369 others(33): Show c.3696+394_3696+409delTAAATAAATAAATAAA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	21/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71732686	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0027 a0001c0015t0001g0027	1	320	0.0031	-16	c.139 others(33): Show c.1394-182_1394-167delAAAAAAAAAAAAAAAA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	6/23			chr9	TogoVar
CEMIP_chr15_80774370_80956771	80900634	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	254	0.0039	-16	c.141 others(35): Show c.1411+4586_1411+4601delGTGTCTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMP1_chr16_2525035_2536408	2532250	CATCTCTG others(9): Show CATCTCTGCGCCCCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02630.hp1 others(5): Show HG02145.hp2 HG02451.hp2 HG02630.hp1 HG02970.hp2 HG03471.hp2 HG03516.hp2 HG06807.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0000 a0002c0002t0007g0000 a0002c0002t0002g0000 a0002c0002t0007g0000	8	348	0.0230	-16	c.-11 others(27): Show c.-1193_-1178delTGGGGGGCGCAGAGAT	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		843		chr16	TogoVar
CEMP1_chr16_2525035_2536408	2533430	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02280.hp2 others(7): Show HG01243.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02630.hp1 HG02970.hp2 HG03471.hp2 HG03516.hp2 HG06807.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 a0001c0001t0001 a0002c0002t0002 a0002c0002t0007	a0001c0001t0001g0000 a0002c0002t0002g0000 a0002c0002t0007g0000 a0001c0001t0001g0000 a0002c0002t0002g0000 a0002c0002t0007g0000	10	348	0.0287	-16	c.-23 others(27): Show c.-2373_-2358delAAAAAAAAAAAAAAAA	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		2023		chr16	TogoVar
CENPC_chr4_67463762_67550503	67491472	TATATATA others(9): Show TATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG01891.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0019 a0001c0001t0004g0020	2	338	0.0059	-16	c.251 others(33): Show c.2515+692_2515+707delCTCTCTCTATATATAT	CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding	16/18			chr4	TogoVar
CENPC_chr4_67463762_67550503	67491480	TAGAGAGA others(9): Show TAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0316 a0001c0001t0018g0316	1	338	0.0030	-16	c.251 others(33): Show c.2515+684_2515+699delCTCTCTCTCTCTCTCT	CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding	16/18			chr4	TogoVar
CENPC_chr4_67463762_67550503	67509207	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0012 a0001c0012t0012	a0001c0012t0012g0253 a0001c0012t0012g0253	1	338	0.0030	-16	c.161 others(33): Show c.1613-118_1613-103delGTGTGTGTGTGTGTGT	CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding	9/18			chr4	TogoVar
CENPE_chr4_103100811_103203343	103113036	ATATATAT others(9): Show ATATATATACTTATAAG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02717.hp1 HG03017.hp1 others(1): Show HG02148.hp2 HG02717.hp1 HG03017.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0236 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0218 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0300	4	320	0.0125	-16	c.754 others(35): Show c.7540+1403_7540+1418delCTTATAAGTATATATA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103113084	ATAAGTGT others(9): Show ATAAGTGTATATATAAG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02717.hp1 HG03017.hp1 others(1): Show HG02148.hp2 HG02717.hp1 HG03017.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0236 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0218 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0300	4	320	0.0125	-16	c.754 others(35): Show c.7540+1355_7540+1370delCTTATATATACACTTA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103200552	TCTCTCTA others(9): Show TCTCTCTACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 NA19240.hp1 HG03041.hp1 NA19240.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0150 a0001c0013t0001g0151 a0001c0013t0001g0150 a0001c0013t0001g0151	2	320	0.0063	-16	c.-22 others(27): Show c.-2249_-2234delGTGTGTGTGTAGAGAG	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding		2210		chr4	TogoVar
CENPE_chr4_103100811_103203343	103200558	TACACACA others(9): Show TACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 NA18979.hp1 NA18981.hp2 others(2): Show HG00642.hp2 NA18979.hp1 NA18981.hp2 NA19006.hp1 NA19009.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0109 a0003c0003t0001g0111 a0003c0003t0001g0123 others(2): Show a0003c0003t0001g0109 a0003c0003t0001g0111 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0138	5	320	0.0156	-16	c.-22 others(27): Show c.-2255_-2240delGTGTGTGTGTGTGTGT	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding		2216		chr4	TogoVar
CENPF_chr1_214598195_214669571	214606286	CCCGTTCC others(9): Show CCCGTTCCCTGGCGCTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG01074.hp1 others(50): Show HG00408.hp2 HG00673.hp1 HG01074.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02080.hp1 HG02135.hp2 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02630.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03491.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04228.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18966.hp2 NA18973.hp2 NA18979.hp1 NA18982.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19074.hp1 NA19082.hp2 NA19091.hp2 NA20300.hp1 NA20905.hp2	a0003 a0005 a0019 others(8): Show a0003 a0005 a0019 a0025 a0042 a0043 a0044 a0045 a0046 a0047 a0048	a0003c0003 a0003c0059 a0005c0005 others(9): Show a0003c0003 a0003c0059 a0005c0005 a0019c0025 a0025c0026 a0042c0046 a0043c0043 a0044c0045 a0045c0044 a0046c0058 a0047c0056 a0048c0057	a0003c0003t0002 a0003c0003t0013 a0003c0059t0002 others(11): Show a0003c0003t0002 a0003c0003t0013 a0003c0059t0002 a0005c0005t0003 a0019c0025t0002 a0019c0025t0012 a0025c0026t0002 a0042c0046t0002 a0043c0043t0006 a0044c0045t0003 a0045c0044t0003 a0046c0058t0002 a0047c0056t0002 a0048c0057t0002	a0003c0003t0002g0003 a0003c0003t0002g0005 a0003c0003t0002g0007 others(39): Show a0003c0003t0002g0003 a0003c0003t0002g0005 a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0073 a0003c0003t0002g0074 a0003c0003t0013g0068 a0003c0059t0002g0069 a0005c0005t0003g0002 a0005c0005t0003g0016 a0005c0005t0003g0244 a0005c0005t0003g0245 a0005c0005t0003g0247 a0005c0005t0003g0248 a0005c0005t0003g0249 a0005c0005t0003g0250 a0005c0005t0003g0251 a0005c0005t0003g0252 a0019c0025t0002g0236 a0019c0025t0012g0237 a0025c0026t0002g0024 a0025c0026t0002g0048 a0042c0046t0002g0027 a0043c0043t0006g0246 a0044c0045t0003g0240 a0045c0044t0003g0239 a0046c0058t0002g0025 a0047c0056t0002g0026 a0048c0057t0002g0007	53	282	0.1879	-16	c.-42 others(33): Show c.-42+2979_-42+2994delCTGCCGTTCCCTGGCG	CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPF_chr1_214598195_214669571	214616834	CCTCTTTC others(9): Show CCTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0033 a0004c0013t0002g0033	1	282	0.0036	-16	c.360 others(33): Show c.360-1738_360-1723delCTCTTTCTTTCTTTCT	CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19			chr1	TogoVar
CENPF_chr1_214598195_214669571	214616835	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(46): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG01106.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01981.hp1 HG02080.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG04184.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18950.hp2 NA18966.hp1 NA18969.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18988.hp2 NA18989.hp1 NA19009.hp2 NA19054.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0015 a0016 a0019 a0020 a0021 a0025 a0026 a0028 a0032 a0034 a0036	a0001c0001 a0001c0011 a0001c0017 others(18): Show a0001c0001 a0001c0011 a0001c0017 a0002c0002 a0003c0003 a0004c0004 a0006c0030 a0007c0009 a0007c0012 a0009c0010 a0015c0019 a0016c0029 a0019c0025 a0020c0021 a0021c0022 a0025c0026 a0026c0062 a0028c0040 a0032c0041 a0034c0054 a0036c0049	a0001c0001t0001 a0001c0001t0008 a0001c0011t0001 others(20): Show a0001c0001t0001 a0001c0001t0008 a0001c0011t0001 a0001c0017t0001 a0002c0002t0001 a0002c0002t0007 a0003c0003t0002 a0004c0004t0002 a0006c0030t0002 a0007c0009t0001 a0007c0012t0001 a0009c0010t0001 a0015c0019t0001 a0016c0029t0004 a0019c0025t0012 a0020c0021t0001 a0021c0022t0001 a0025c0026t0002 a0026c0062t0001 a0028c0040t0010 a0032c0041t0001 a0034c0054t0002 a0036c0049t0004	a0001c0001t0001g0012 a0001c0001t0001g0075 a0001c0001t0001g0147 others(46): Show a0001c0001t0001g0012 a0001c0001t0001g0075 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0008g0197 a0001c0011t0001g0012 a0001c0017t0001g0155 a0002c0002t0001g0091 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0117 a0002c0002t0001g0207 a0002c0002t0007g0114 a0003c0003t0002g0070 a0004c0004t0002g0212 a0006c0030t0002g0039 a0007c0009t0001g0158 a0007c0012t0001g0085 a0007c0012t0001g0128 a0009c0010t0001g0143 a0009c0010t0001g0144 a0015c0019t0001g0079 a0016c0029t0004g0018 a0019c0025t0012g0237 a0020c0021t0001g0116 a0020c0021t0001g0192 a0021c0022t0001g0115 a0025c0026t0002g0024 a0025c0026t0002g0048 a0026c0062t0001g0145 a0028c0040t0010g0146 a0032c0041t0001g0204 a0034c0054t0002g0211 a0036c0049t0004g0049	49	282	0.1738	-16	c.360 others(33): Show c.360-1665_360-1650delTCTTTCTTTCTTTCTT	CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPH_chr5_69184583_69215357	69200719	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01978.hp1 others(3): Show HG01081.hp2 HG01106.hp2 HG01978.hp1 HG01981.hp2 HG03017.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0019 a0001c0001t0001g0098 a0001c0001t0001g0099 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0135 a0001c0005t0001g0093	6	388	0.0155	-16	c.372 others(33): Show c.372-1768_372-1753delTTTTTTTTTTTTTTTT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPH_chr5_69184583_69215357	69212427	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	388	0.0026	-16	c.26 others(27): Show c.2629_*2644delTTTTTTTTTTTTTTTT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding		2071		chr5	TogoVar
CENPK_chr5_65512766_65568168	65514247	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01168.hp2 HG01256.hp1 others(22): Show HG00423.hp1 HG01168.hp2 HG01256.hp1 HG01952.hp1 HG02027.hp1 HG02109.hp1 HG02280.hp1 HG02293.hp1 HG02572.hp1 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03579.hp1 HG03688.hp1 NA18522.hp2 NA18967.hp1 NA18979.hp1 NA19000.hp1 NA19078.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0145 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0181 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0239 a0001c0001t0001g0338 a0001c0001t0004g0025 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0241 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0260 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275	25	374	0.0668	-16	c.42 others(27): Show c.4212_*4227delCTAAAAAAAAAAAAAA	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding		3518		chr5	TogoVar
CENPK_chr5_65512766_65568168	65527498	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(43): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00642.hp1 HG01074.hp1 HG01123.hp2 HG01243.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01981.hp2 HG02004.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02622.hp1 HG02735.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp2 HG03540.hp2 HG03831.hp2 HG03834.hp2 HG04204.hp2 NA18949.hp1 NA18967.hp1 NA18977.hp1 NA18977.hp2 NA18992.hp2 NA19006.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19063.hp1 NA19072.hp1 NA19078.hp1 NA19080.hp2 NA19082.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 others(37): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0340 a0001c0001t0004g0232 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140	46	374	0.1230	-16	c.597 others(31): Show c.597+938_597+953delATATATATATATATAT	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	9/10			chr5	TogoVar
CENPK_chr5_65512766_65568168	65545322	GCGCACAC others(9): Show GCGCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00733.hp2 others(46): Show HG00558.hp2 HG00621.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02683.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG03831.hp1 HG04199.hp1 HG04199.hp2 NA18947.hp1 NA18950.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18970.hp1 NA18991.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19078.hp2 NA19080.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0003c0004t0002	a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0002g0013 others(43): Show a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0004g0251 a0001c0001t0006g0233 a0001c0001t0007g0333 a0003c0004t0002g0067	49	374	0.1310	-16	c.242 others(33): Show c.242-2490_242-2475delTGTGTGTGTGTGTGCG	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	5/10			chr5	TogoVar
CENPP_chr9_92320953_92625529	92382892	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0069 a0001c0001t0009g0069	1	260	0.0039	-16	c.564 others(33): Show c.564+3043_564+3058delTTTTTTTTTTTTTTTT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92449437	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(92): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01257.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02056.hp2 HG02109.hp1 HG02145.hp1 HG02273.hp1 HG02300.hp2 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp2 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0043 a0002c0002t0012 a0003c0003t0018	a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 others(92): Show a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0072 a0001c0001t0004g0078 a0001c0001t0004g0258 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0006g0208 a0001c0001t0006g0214 a0001c0001t0006g0216 a0001c0001t0006g0227 a0001c0001t0007g0186 a0001c0001t0007g0222 a0001c0001t0008g0018 a0001c0001t0009g0005 a0001c0001t0009g0046 a0001c0001t0009g0052 a0001c0001t0009g0063 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0010g0146 a0001c0001t0010g0147 a0001c0001t0010g0148 a0001c0001t0010g0150 a0001c0001t0010g0231 a0001c0001t0011g0179 a0001c0001t0011g0219 a0001c0001t0011g0233 a0001c0001t0014g0163 a0001c0001t0014g0164 a0001c0001t0014g0165 a0001c0001t0020g0230 a0001c0001t0020g0232 a0001c0001t0021g0136 a0001c0001t0026g0051 a0001c0001t0027g0053 a0001c0001t0029g0207 a0001c0001t0030g0205 a0001c0001t0032g0166 a0001c0001t0033g0154 a0001c0001t0034g0162 a0001c0001t0042g0001 a0001c0001t0043g0215 a0002c0002t0012g0204 a0003c0003t0018g0197	95	260	0.3654	-16	c.564 others(35): Show c.564+69604_564+69619delAAAAAAAAAAAAAAAA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92565293	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	260	0.0039	-16	c.565 others(35): Show c.565-46006_565-45991delAAAAAAAAAAAAAAAA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPT_chr16_67823157_67852693	67838910	GTGTGAGT others(9): Show GTGTGAGTGCAAGACTC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	266	0.0038	-16	c.-49 others(35): Show c.-491-3268_-491-3253delGAGTCTTGCACTCACA	CENPT	ENSG00000102901.13	transcript	ENST00000562787.6	protein_coding	1/15			chr16	TogoVar
CENPVL1_chrX_51705512_51717131	51707495	AACACACA others(9): Show AACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp2 others(77): Show HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02257.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02970.hp1 HG03041.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18969.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19091.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0004 a0001c0001 a0003c0005 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0003c0005t0001 a0004c0004t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(4): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0003c0005t0001g0000 a0004c0004t0001g0000	80	238	0.3361	-16	c.-30 others(27): Show c.-3016_-3001delACACACACACACACAC	CENPVL1	ENSG00000223591.5	transcript	ENST00000602548.2	protein_coding		3016		chrX	TogoVar
CENPVL2_chrX_51676212_51687831	51685792	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01515.hp1 HG01517.hp1 others(1): Show HG01175.hp2 HG01515.hp1 HG01517.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	237	0.0169	-16	c.-29 others(27): Show c.-2977_-2962delCACACACACACACACA	CENPVL2	ENSG00000283093.1	transcript	ENST00000634648.1	protein_coding		2962		chrX	TogoVar
CEP104_chr1_3807086_3862211	3822230	TGACAGAC others(9): Show TGACAGACAGACAGAGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(233): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(10): Show a0001 a0003 a0004 a0006 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0003c0003 a0003c0004 others(11): Show a0001c0001 a0003c0003 a0003c0004 a0004c0007 a0006c0009 a0009c0014 a0010c0020 a0011c0018 a0012c0019 a0013c0016 a0014c0017 a0015c0021 a0016c0022 a0017c0023	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(38): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0003c0003t0002 a0003c0003t0012 a0003c0003t0014 a0003c0003t0016 a0003c0003t0017 a0003c0003t0018 a0003c0003t0019 a0003c0003t0029 a0003c0003t0030 a0003c0004t0002 a0003c0004t0017 a0004c0007t0009 a0006c0009t0002 a0009c0014t0002 a0010c0020t0003 a0011c0018t0003 a0012c0019t0032 a0013c0016t0019 a0014c0017t0010 a0015c0021t0012 a0016c0022t0034 a0017c0023t0004	a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0026 others(194): Show a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0237 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0314 a0001c0001t0004g0002 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0005g0029 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0007g0014 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0275 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0007g0285 a0001c0001t0008g0013 a0001c0001t0008g0024 a0001c0001t0008g0248 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0270 a0001c0001t0009g0239 a0001c0001t0009g0240 a0001c0001t0009g0242 a0001c0001t0009g0243 a0001c0001t0009g0259 a0001c0001t0009g0268 a0001c0001t0010g0235 a0001c0001t0010g0244 a0001c0001t0010g0246 a0001c0001t0010g0247 a0001c0001t0010g0249 a0001c0001t0010g0260 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0020g0286 a0001c0001t0020g0287 a0001c0001t0026g0154 a0001c0001t0027g0145 a0001c0001t0028g0161 a0001c0001t0033g0274 a0001c0001t0035g0266 a0001c0001t0036g0305 a0001c0001t0037g0312 a0001c0001t0038g0288 a0001c0001t0039g0238 a0001c0001t0040g0315 a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0011 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0165 a0003c0003t0002g0166 a0003c0003t0002g0169 a0003c0003t0002g0170 a0003c0003t0002g0171 a0003c0003t0002g0172 a0003c0003t0002g0173 a0003c0003t0002g0174 a0003c0003t0002g0176 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0184 a0003c0003t0002g0185 a0003c0003t0002g0186 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0002g0200 a0003c0003t0002g0203 a0003c0003t0002g0205 a0003c0003t0002g0206 a0003c0003t0002g0207 a0003c0003t0002g0212 a0003c0003t0002g0213 a0003c0003t0002g0216 a0003c0003t0002g0217 a0003c0003t0002g0218 a0003c0003t0002g0220 a0003c0003t0002g0221 a0003c0003t0002g0222 a0003c0003t0002g0223 a0003c0003t0002g0224 a0003c0003t0002g0225 a0003c0003t0002g0227 a0003c0003t0002g0228 a0003c0003t0002g0232 a0003c0003t0002g0233 a0003c0003t0012g0289 a0003c0003t0012g0290 a0003c0003t0014g0137 a0003c0003t0014g0138 a0003c0003t0016g0230 a0003c0003t0016g0231 a0003c0003t0017g0208 a0003c0003t0018g0204 a0003c0003t0018g0215 a0003c0003t0019g0211 a0003c0003t0029g0209 a0003c0003t0030g0202 a0003c0004t0002g0008 a0003c0004t0002g0012 a0003c0004t0002g0168 a0003c0004t0002g0175 a0003c0004t0002g0178 a0003c0004t0002g0190 a0003c0004t0002g0191 a0003c0004t0002g0197 a0003c0004t0002g0198 a0003c0004t0002g0199 a0003c0004t0002g0201 a0003c0004t0002g0214 a0003c0004t0002g0226 a0003c0004t0002g0229 a0003c0004t0017g0167 a0004c0007t0009g0241 a0004c0007t0009g0245 a0004c0007t0009g0250 a0006c0009t0002g0177 a0006c0009t0002g0194 a0009c0014t0002g0183 a0010c0020t0003g0313 a0011c0018t0003g0265 a0012c0019t0032g0234 a0013c0016t0019g0210 a0014c0017t0010g0236 a0015c0021t0012g0255 a0016c0022t0034g0269 a0017c0023t0004g0150	236	382	0.6178	-16	c.257 others(33): Show c.2571+928_2571+943delCCTCTGTCTGTCTGTC	CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	20/21			chr1	TogoVar
CEP112_chr17_65630537_66197133	65649073	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG02027.hp1 others(13): Show HG00741.hp1 HG01891.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02559.hp1 HG02622.hp2 HG03225.hp1 HG03579.hp2 HG03831.hp2 NA18983.hp2 NA18986.hp1 NA19002.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0005	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0002c0001t0001 a0003c0005t0001	a0001c0002t0001g0021 a0001c0002t0001g0035 a0001c0002t0001g0046 others(13): Show a0001c0002t0001g0021 a0001c0002t0001g0035 a0001c0002t0001g0046 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0084 a0001c0002t0001g0091 a0001c0002t0001g0103 a0001c0003t0001g0062 a0001c0003t0002g0109 a0001c0003t0007g0004 a0002c0001t0001g0013 a0002c0001t0001g0015 a0002c0001t0001g0027 a0002c0001t0001g0043 a0003c0005t0001g0048	16	112	0.1429	-16	c.269 others(35): Show c.2698-8024_2698-8009delGTGTGTGTGTGTGTGT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65660460	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(37): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02257.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03195.hp2 HG03492.hp1 HG03579.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18985.hp1 NA18985.hp2 NA19056.hp1 NA19063.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0002 a0001c0003 a0002c0001 others(4): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0002c0008 a0004c0006 a0005c0009	a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0002c0001t0001 a0002c0001t0004 a0002c0001t0008 a0002c0004t0001 a0002c0008t0001 a0004c0006t0002 a0005c0009t0005	a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0050 others(37): Show a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0050 a0001c0002t0001g0061 a0001c0002t0001g0080 a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0003t0001g0005 a0001c0003t0001g0074 a0001c0003t0001g0082 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0006g0003 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0023 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0049 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0067 a0002c0001t0001g0083 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0100 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0004g0001 a0002c0001t0008g0040 a0002c0004t0001g0029 a0002c0004t0001g0041 a0002c0008t0001g0030 a0004c0006t0002g0110 a0005c0009t0005g0002	40	112	0.3571	-16	c.269 others(37): Show c.2698-19411_2698-19396delAGGAAGGAAGGAAGGA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65751952	TTCTATCT others(9): Show TTCTATCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02602.hp1 others(1): Show HG02145.hp2 HG02486.hp1 HG02602.hp1 HG02683.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0006 a0001c0002 a0002c0001 a0004c0006	a0001c0002t0001 a0002c0001t0001 a0004c0006t0001 a0001c0002t0001 a0002c0001t0001 a0004c0006t0001	a0001c0002t0001g0059 a0001c0002t0001g0080 a0002c0001t0001g0064 others(1): Show a0001c0002t0001g0059 a0001c0002t0001g0080 a0002c0001t0001g0064 a0004c0006t0001g0022	4	112	0.0357	-16	c.239 others(35): Show c.2395-1244_2395-1229delTAGATAGATAGATAGA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65772603	CACACACA others(9): Show CACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG00735.hp1 others(48): Show HG00438.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02723.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA19056.hp1 NA19063.hp1 NA19240.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0001c0003 a0002c0001 others(5): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0002c0008 a0003c0005 a0004c0006 a0005c0009	a0001c0002t0001 a0001c0003t0001 a0001c0003t0007 others(9): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0007 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0004t0001 a0002c0008t0001 a0003c0005t0001 a0004c0006t0001 a0005c0009t0005	a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 others(48): Show a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0093 a0001c0003t0001g0006 a0001c0003t0001g0042 a0001c0003t0001g0062 a0001c0003t0001g0082 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0007g0004 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0016 a0002c0001t0001g0023 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0031 a0002c0001t0001g0039 a0002c0001t0001g0043 a0002c0001t0001g0045 a0002c0001t0001g0049 a0002c0001t0001g0052 a0002c0001t0001g0065 a0002c0001t0001g0079 a0002c0001t0001g0083 a0002c0001t0002g0111 a0002c0001t0003g0008 a0002c0001t0004g0001 a0002c0004t0001g0041 a0002c0008t0001g0030 a0003c0005t0001g0048 a0004c0006t0001g0022 a0005c0009t0005g0002	51	112	0.4554	-16	c.239 others(37): Show c.2395-21895_2395-21880delCTGTGTGTGTGTGTGT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65821536	ATATATTT others(9): Show ATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0003 a0001c0003t0006g0003	1	112	0.0089	-16	c.239 others(37): Show c.2394+30252_2394+30267delAAAAAAAAAAAATATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65821538	ATATTTTT others(9): Show ATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0009	1	112	0.0089	-16	c.239 others(37): Show c.2394+30250_2394+30265delAAAAAAAAAAAAAATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65864913	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp2 HG01517.hp1 others(15): Show HG00741.hp1 HG01255.hp2 HG01517.hp1 HG02055.hp2 HG02257.hp1 HG02572.hp1 HG02622.hp1 HG03041.hp1 HG03492.hp2 HG03704.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18983.hp1 NA19002.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0002c0004t0001	a0001c0002t0001g0047 a0001c0002t0001g0057 a0001c0002t0001g0061 others(15): Show a0001c0002t0001g0047 a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0103 a0001c0003t0001g0082 a0002c0001t0001g0063 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0100 a0002c0004t0001g0041	18	112	0.1607	-16	c.216 others(37): Show c.2164-12895_2164-12880delACACACACACACACAC	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65971596	CATATTGT others(9): Show CATATTGTGTGCATATT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02976.hp2 HG02572.hp1 HG02622.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0061 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0061	3	112	0.0268	-16	c.173 others(36): Show c.1737-10014_1737-9999delAATATGCACACAATAT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66006838	ACAGACCT others(9): Show ACAGACCTGCTGGTAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG02027.hp2 others(9): Show HG01109.hp2 HG01346.hp2 HG02027.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG03688.hp2 HG03831.hp2 HG06807.hp2 NA18985.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0006 a0001c0003 a0004c0006	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0004c0006t0002	a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0033 others(9): Show a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0033 a0001c0003t0001g0042 a0001c0003t0001g0062 a0001c0003t0001g0074 a0001c0003t0001g0082 a0001c0003t0001g0107 a0001c0003t0002g0109 a0001c0003t0002g0112 a0001c0003t0006g0003 a0004c0006t0002g0110	12	112	0.1071	-16	c.165 others(35): Show c.1657-1085_1657-1070delCTTACCAGCAGGTCTG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	16/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66086380	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01255.hp2 HG02027.hp1 others(16): Show HG00280.hp1 HG01255.hp2 HG02027.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02976.hp2 HG03225.hp1 HG03831.hp1 HG04199.hp1 NA18986.hp2 NA19002.hp2 NA19063.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0001 a0002c0004 others(1): Show a0001c0002 a0002c0001 a0002c0004 a0006c0010	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 others(3): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0004t0001 a0006c0010t0001	a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0035 others(16): Show a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0035 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0051 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0076 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0092 a0002c0001t0001g0032 a0002c0001t0001g0044 a0002c0001t0001g0064 a0002c0001t0002g0111 a0002c0001t0003g0008 a0002c0004t0001g0041 a0006c0010t0001g0010	19	112	0.1696	-16	c.768 others(33): Show c.768+9855_768+9870delAAAAAAAAAAAAAAAA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	8/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66132168	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG01123.hp2 others(10): Show HG00280.hp1 HG01081.hp1 HG01123.hp2 HG01258.hp1 HG01346.hp1 HG01517.hp1 HG02451.hp2 HG02559.hp1 HG02965.hp2 HG03017.hp1 HG04115.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0004 a0001c0002 a0002c0001 a0002c0004	a0001c0002t0001 a0002c0001t0001 a0002c0004t0001 a0001c0002t0001 a0002c0001t0001 a0002c0004t0001	a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 others(10): Show a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0004t0001g0029	13	112	0.1161	-16	c.564 others(31): Show c.564+486_564+501delTTTTTTTTTTTTTTTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	5/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66177525	AGGATAAA others(9): Show AGGATAAATCGGGTATC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show HG02027.hp2 HG02145.hp1 HG02280.hp1 HG02572.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0001 a0004c0006 a0001c0003 a0002c0001 a0004c0006	a0001c0003t0002 a0002c0001t0002 a0004c0006t0002 a0001c0003t0002 a0002c0001t0002 a0004c0006t0002	a0001c0003t0002g0109 a0001c0003t0002g0112 a0002c0001t0002g0111 others(1): Show a0001c0003t0002g0109 a0001c0003t0002g0112 a0002c0001t0002g0111 a0004c0006t0002g0110	4	112	0.0357	-16	c.107 others(31): Show c.107-521_107-506delGATACCCGATTTATCC	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	2/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	66188286	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02145.hp1 HG02280.hp1 others(1): Show HG02027.hp2 HG02145.hp1 HG02280.hp1 HG02572.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0001 a0004c0006 a0001c0003 a0002c0001 a0004c0006	a0001c0003t0002 a0002c0001t0002 a0004c0006t0002 a0001c0003t0002 a0002c0001t0002 a0004c0006t0002	a0001c0003t0002g0109 a0001c0003t0002g0112 a0002c0001t0002g0111 others(1): Show a0001c0003t0002g0109 a0001c0003t0002g0112 a0002c0001t0002g0111 a0004c0006t0002g0110	4	112	0.0357	-16	c.-9+ others(31): Show c.-9+3695_-9+3710delGTGTGTGTGTGTGTGT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	1/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101911094	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02572.hp2 HG02717.hp2 others(1): Show HG01123.hp2 HG02572.hp2 HG02717.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0002g0266 a0001c0001t0002g0294 a0001c0001t0004g0001 others(1): Show a0001c0001t0002g0266 a0001c0001t0002g0294 a0001c0001t0004g0001 a0001c0002t0001g0167	4	336	0.0119	-16	c.-41 others(27): Show c.-4190_-4175delTTTTTTTTTTTTTTTT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3915		chr11	TogoVar
CEP126_chr11_101910010_102006062	101917028	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0036	1	336	0.0030	-16	c.128 others(33): Show c.128+1649_128+1664delTGTGTGTGTGTGTGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	102003173	CATATATG others(9): Show CATATATGTGTGTGTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02922.hp1 HG02976.hp2 HG01243.hp2 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0036 a0001c0001t0008g0003 a0001c0001t0008g0036	3	336	0.0089	-16	c.55 others(27): Show c.5531_*5546delATATATGTGTGTGTAT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		2112		chr11	TogoVar
CEP126_chr11_101910010_102006062	102004895	CATATATA others(9): Show CATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01099.hp2 others(9): Show HG00642.hp1 HG00738.hp1 HG01099.hp2 HG01192.hp1 HG01361.hp1 HG01934.hp2 HG02559.hp2 HG02809.hp2 HG02818.hp2 HG03017.hp2 HG03654.hp1 HG03834.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0018 a0001c0001 a0013c0018	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0013c0018t0015	a0001c0001t0002g0242 a0001c0001t0002g0278 a0001c0001t0002g0289 others(9): Show a0001c0001t0002g0242 a0001c0001t0002g0278 a0001c0001t0002g0289 a0001c0001t0002g0295 a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0283 a0001c0001t0009g0299 a0001c0001t0011g0129 a0001c0001t0018g0188 a0001c0001t0018g0272 a0013c0018t0015g0033	12	336	0.0357	-16	c.72 others(27): Show c.7253_*7268delATATATATATATATAT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3834		chr11	TogoVar
CEP128_chr14_80491479_80946738	80602511	CTTGTAAT others(9): Show CTTGTAATCCCAGCACT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0086 a0004c0004t0003g0086	1	164	0.0061	-16	c.280 others(37): Show c.2807-22104_2807-22089delAGTGCTGGGATTACAA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80615848	CAAATAAA others(9): Show CAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG00735.hp1 others(108): Show HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19072.hp1 NA19079.hp2 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0012 a0013	a0001c0001 a0001c0009 a0001c0012 others(13): Show a0001c0001 a0001c0009 a0001c0012 a0001c0014 a0001c0015 a0001c0022 a0002c0002 a0002c0006 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0008c0011 a0010c0017 a0012c0020 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0009t0006 a0001c0012t0001 a0001c0014t0003 a0001c0015t0001 a0001c0022t0005 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0015 a0002c0006t0003 a0003c0003t0002 a0003c0003t0006 a0004c0004t0003 a0004c0004t0008 a0004c0004t0012 a0005c0005t0001 a0005c0005t0008 a0005c0005t0011 a0006c0007t0002 a0006c0007t0004 a0008c0011t0002 a0010c0017t0001 a0012c0020t0004 a0013c0021t0007	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(108): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0004g0094 a0001c0001t0004g0137 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0005g0002 a0001c0001t0005g0005 a0001c0001t0005g0009 a0001c0001t0005g0011 a0001c0001t0005g0036 a0001c0001t0005g0042 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0114 a0001c0001t0006g0155 a0001c0009t0006g0153 a0001c0009t0006g0154 a0001c0012t0001g0049 a0001c0014t0003g0151 a0001c0015t0001g0048 a0001c0022t0005g0015 a0002c0002t0003g0066 a0002c0002t0003g0068 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0085 a0002c0002t0003g0092 a0002c0002t0003g0136 a0002c0002t0004g0065 a0002c0002t0004g0070 a0002c0002t0004g0072 a0002c0002t0004g0073 a0002c0002t0004g0074 a0002c0002t0004g0093 a0002c0002t0004g0138 a0002c0002t0004g0142 a0002c0002t0004g0146 a0002c0002t0006g0158 a0002c0002t0010g0010 a0002c0002t0015g0075 a0002c0006t0003g0144 a0002c0006t0003g0145 a0003c0003t0002g0098 a0003c0003t0002g0120 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0127 a0003c0003t0006g0116 a0004c0004t0003g0140 a0004c0004t0008g0071 a0004c0004t0012g0103 a0005c0005t0001g0028 a0005c0005t0001g0055 a0005c0005t0008g0150 a0005c0005t0011g0044 a0006c0007t0002g0135 a0006c0007t0004g0147 a0008c0011t0002g0109 a0008c0011t0002g0121 a0010c0017t0001g0007 a0012c0020t0004g0163 a0013c0021t0007g0088	111	164	0.6768	-16	c.280 others(37): Show c.2807-35441_2807-35426delATTTATTTATTTATTT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656273	TTTTATTT others(9): Show TTTTATTTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01515.hp1 HG02523.hp1 others(4): Show HG01109.hp2 HG01515.hp1 HG02523.hp1 HG03041.hp1 HG03041.hp2 HG06807.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 a0001c0001t0001 a0001c0001t0002 a0002c0002t0004	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 others(4): Show a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0156 a0002c0002t0004g0065	7	164	0.0427	-16	c.280 others(37): Show c.2807-75866_2807-75851delTATATATATAAATAAA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80678048	AAATATAT others(9): Show AAATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG00735.hp1 others(32): Show HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01433.hp1 HG01433.hp2 HG02040.hp2 HG02132.hp2 HG02257.hp2 HG02280.hp2 HG02602.hp1 HG03139.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 NA18942.hp2 NA18960.hp2 NA18979.hp1 NA18995.hp2 NA19009.hp2 NA19012.hp1 NA19072.hp1 NA19079.hp2 NA19086.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0012 a0002c0002 others(2): Show a0001c0001 a0001c0012 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0012t0001 a0002c0002t0003 a0002c0002t0004 a0003c0003t0002 a0003c0003t0006 a0005c0005t0011	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 others(32): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0128 a0001c0001t0005g0005 a0001c0001t0005g0042 a0001c0001t0006g0101 a0001c0012t0001g0049 a0002c0002t0003g0136 a0002c0002t0004g0146 a0003c0003t0002g0098 a0003c0003t0002g0120 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0127 a0003c0003t0002g0164 a0003c0003t0006g0116 a0005c0005t0011g0044	35	164	0.2134	-16	c.280 others(37): Show c.2806+65011_2806+65026delCATATATATATATATT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80678049	AATATATA others(9): Show AATATATATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02165.hp2 NA18942.hp1 HG02083.hp2 HG02165.hp2 NA18942.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0003c0003t0006 a0001c0001t0001 a0001c0001t0005 a0003c0003t0006	a0001c0001t0001g0001 a0001c0001t0005g0043 a0003c0003t0006g0117 a0001c0001t0001g0001 a0001c0001t0005g0043 a0003c0003t0006g0117	3	164	0.0183	-16	c.280 others(37): Show c.2806+65010_2806+65025delACATATATATATATAT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar

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