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
CECR2_chr22_17364460_17563151	17480419	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03098.hp1 NA18522.hp2 others(4): Show HG01358.hp1 HG03098.hp1 NA18522.hp2 NA18975.hp1 NA18984.hp1 NA18994.hp1 NA19043.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0023 a0001c0001t0052 a0002c0002t0018 a0005c0005t0016	a0001c0001t0001g0093 a0001c0001t0002g0044 a0001c0001t0010g0270 others(4): Show a0001c0001t0001g0093 a0001c0001t0002g0044 a0001c0001t0010g0270 a0001c0001t0023g0300 a0001c0001t0052g0315 a0002c0002t0018g0281 a0005c0005t0016g0028	7	324	0.0216	14	c.221 others(31): Show c.221+2765_221+2778dupCACACACACACACA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17480459	C C	CACACACA others(7): Show CACACACACACAGAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02738.hp1 HG02886.hp2 others(2): Show HG02683.hp2 HG02738.hp1 HG02886.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0002 a0001c0001 a0001c0014 a0002c0002	a0001c0001t0002 a0001c0001t0080 a0001c0014t0013 others(2): Show a0001c0001t0002 a0001c0001t0080 a0001c0014t0013 a0002c0002t0031 a0002c0002t0056	a0001c0001t0002g0128 a0001c0001t0080g0084 a0001c0014t0013g0253 others(2): Show a0001c0001t0002g0128 a0001c0001t0080g0084 a0001c0014t0013g0253 a0002c0002t0031g0279 a0002c0002t0056g0083	5	324	0.0154	14	c.221 others(31): Show c.221+2778_221+2779insCACACACACAGAGA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17481048	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0070 a0016c0024t0070	a0016c0024t0070g0194 a0016c0024t0070g0194	1	324	0.0031	14	c.221 others(31): Show c.221+3366_221+3367insAAAAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18			chr22	TogoVar
CECR2_chr22_17364460_17563151	17482115	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18970.hp1 NA19010.hp2 others(2): Show NA18955.hp1 NA18970.hp1 NA19010.hp2 NA19011.hp2 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0014	a0001c0001t0001g0069 a0001c0001t0002g0029 a0002c0002t0003g0110 others(2): Show a0001c0001t0001g0069 a0001c0001t0002g0029 a0002c0002t0003g0110 a0002c0002t0006g0302 a0002c0002t0014g0025	5	324	0.0154	14	c.221 others(31): Show c.221+4446_221+4459dupAAAAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17525285	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0319 a0001c0001t0006g0319	1	324	0.0031	14	c.110 others(33): Show c.1108+1014_1108+1015insAAAAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18			chr22	TogoVar
CECR2_chr22_17364460_17563151	17545374	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0157 a0001c0001t0005g0157	1	324	0.0031	14	c.286 others(33): Show c.2860+2381_2860+2394dupAAAAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17552774	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp1 HG01255.hp2 others(12): Show HG01167.hp2 HG01168.hp1 HG01255.hp2 HG02109.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp2 NA18906.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0021 a0001c0001t0025 a0001c0001t0057 a0001c0001t0058 a0001c0009t0048 a0002c0002t0053	a0001c0001t0002g0215 a0001c0001t0003g0290 a0001c0001t0003g0291 others(12): Show a0001c0001t0002g0215 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0005g0157 a0001c0001t0009g0134 a0001c0001t0009g0135 a0001c0001t0009g0168 a0001c0001t0009g0187 a0001c0001t0021g0317 a0001c0001t0025g0013 a0001c0001t0025g0297 a0001c0001t0057g0245 a0001c0001t0058g0292 a0001c0009t0048g0273 a0002c0002t0053g0272	15	324	0.0463	14	c.439 others(29): Show c.4390-48_4390-47insTTTTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELA2B_chr1_15471104_15496395	15478201	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp1 HG02451.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	2	414	0.0048	14	c.129 others(31): Show c.129+1659_129+1672dupATATATATATATAT	CELA2B	ENSG00000215704.10	transcript	ENST00000375910.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CELA3B_chr1_21972022_21994354	21974470	T T	TCACCACA others(7): Show TCACCACAAACTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	444	0.0023	14	c.-25 others(25): Show c.-2570_-2569insCACCACAAACTCCG	CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding		2551		chr1	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03239.hp1 HG03579.hp1 others(4): Show HG01517.hp2 HG03239.hp1 HG03579.hp1 HG03834.hp2 NA18964.hp1 NA18989.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 a0001c0001t0002 a0001c0001t0003 a0001c0001t0023	a0001c0001t0002g0116 a0001c0001t0002g0258 a0001c0001t0002g0274 others(4): Show a0001c0001t0002g0116 a0001c0001t0002g0258 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0288 a0001c0001t0003g0058 a0001c0001t0023g0221	7	340	0.0206	14	c.72- others(27): Show c.72-925_72-912dupAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11025239	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(44): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01517.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02735.hp1 HG02965.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 NA18906.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0029 a0001c0002t0045 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0016 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001	a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0104 others(44): Show a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0003g0169 a0001c0001t0008g0186 a0001c0001t0012g0188 a0001c0001t0021g0076 a0001c0001t0021g0089 a0001c0001t0022g0022 a0001c0001t0028g0192 a0001c0001t0032g0075 a0001c0001t0035g0095 a0001c0001t0041g0100 a0001c0002t0001g0014 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0094 a0001c0002t0001g0102 a0001c0002t0001g0107 a0001c0002t0001g0167 a0001c0002t0002g0090 a0001c0002t0002g0096 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0003g0078 a0001c0002t0003g0105 a0001c0002t0003g0165 a0001c0002t0029g0106 a0001c0002t0045g0099 a0001c0003t0002g0093 a0001c0003t0004g0024 a0001c0003t0005g0064 a0001c0003t0016g0003 a0001c0004t0001g0023 a0001c0004t0001g0077 a0001c0004t0001g0091 a0001c0004t0001g0098 a0001c0004t0001g0152 a0001c0004t0003g0025 a0001c0005t0001g0110	47	194	0.2423	14	c.74+ others(29): Show c.74+7081_74+7082insATATATATATATAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11025239	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG04184.hp1 NA19086.hp1 HG02622.hp1 HG04184.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0015 a0001c0003t0024 a0001c0004t0040 a0001c0002t0015 a0001c0003t0024 a0001c0004t0040	a0001c0002t0015g0143 a0001c0003t0024g0142 a0001c0004t0040g0141 a0001c0002t0015g0143 a0001c0003t0024g0142 a0001c0004t0040g0141	3	194	0.0155	14	c.74+ others(29): Show c.74+7077_74+7078insGTATATATATATAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11032146	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG01109.hp1 others(3): Show HG00544.hp2 HG00621.hp1 HG01109.hp1 HG02074.hp2 HG02129.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0028	a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0003g0071 others(3): Show a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0003g0071 a0001c0001t0003g0169 a0001c0001t0012g0188 a0001c0001t0028g0192	6	194	0.0309	14	c.74+ others(31): Show c.74+13995_74+14008dupAAAAAAAAAAAAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11054507	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03579.hp2 HG02280.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0001 a0001c0011t0048 a0001c0004t0001 a0001c0011t0048	a0001c0004t0001g0039 a0001c0011t0048g0013 a0001c0004t0001g0039 a0001c0011t0048g0013	2	194	0.0103	14	c.74+ others(31): Show c.74+36357_74+36358insATGTGTGTGTGTGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11086578	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0050 a0001c0002t0014g0050	1	194	0.0052	14	c.74+ others(31): Show c.74+68434_74+68447dupAAAAAAAAAAAAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11148843	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01517.hp2 HG03486.hp2 others(2): Show HG00423.hp2 HG01517.hp2 HG03486.hp2 NA19090.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0012 a0001c0001t0017 a0001c0001t0050 others(2): Show a0001c0001t0012 a0001c0001t0017 a0001c0001t0050 a0001c0002t0002 a0001c0005t0053	a0001c0001t0012g0079 a0001c0001t0017g0153 a0001c0001t0050g0173 others(2): Show a0001c0001t0012g0079 a0001c0001t0017g0153 a0001c0001t0050g0173 a0001c0002t0002g0002 a0001c0005t0053g0185	5	194	0.0258	14	c.75- others(31): Show c.75-16625_75-16612dupCACACACACACACA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11262940	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(23): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00642.hp2 HG01081.hp1 HG02523.hp2 HG02647.hp2 HG02735.hp1 HG02809.hp1 HG03017.hp1 HG03225.hp2 HG03579.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18975.hp1 NA18983.hp2 NA19002.hp1 NA19010.hp2 NA19043.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0025 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0005t0001 a0001c0005t0052 a0001c0005t0053 a0001c0006t0042	a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0121 others(23): Show a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0139 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0003g0062 a0001c0001t0003g0171 a0001c0001t0006g0118 a0001c0001t0010g0015 a0001c0001t0013g0178 a0001c0001t0019g0047 a0001c0001t0025g0012 a0001c0001t0041g0100 a0001c0002t0001g0014 a0001c0002t0001g0032 a0001c0002t0001g0067 a0001c0002t0001g0146 a0001c0002t0001g0158 a0001c0002t0002g0170 a0001c0002t0009g0148 a0001c0005t0001g0163 a0001c0005t0052g0144 a0001c0005t0053g0185 a0001c0006t0042g0190	26	194	0.1340	14	c.539 others(31): Show c.539-3644_539-3631dupTTTTTTTTTTTTTT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11280989	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp2 HG02055.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0021 a0001c0008t0003 a0001c0001t0021 a0001c0008t0003	a0001c0001t0021g0089 a0001c0008t0003g0166 a0001c0001t0021g0089 a0001c0008t0003g0166	2	194	0.0103	14	c.841 others(31): Show c.841+5888_841+5901dupGTGTGTGTGTGTGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11285826	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	194	0.0052	14	c.842 others(31): Show c.842-2553_842-2540dupGTGTGTGTGTGTGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF4_chr18_37238040_37570798	37338759	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0019 a0001c0001t0015g0019	1	184	0.0054	14	c.370 others(33): Show c.370-16892_370-16879dupACACACACACACAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37444617	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03490.hp2 HG00741.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0081 a0001c0001t0001g0115	2	184	0.0109	14	c.369 others(33): Show c.369+40894_369+40907dupGTGTGTGTGTGTGT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37470836	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0170 a0001c0001t0038g0170	1	184	0.0054	14	c.369 others(33): Show c.369+14675_369+14688dupCACACACACACACA	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37470890	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp1 HG02723.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0029 a0001c0001t0027g0048 a0001c0001t0004g0029 a0001c0001t0027g0048	2	184	0.0109	14	c.369 others(33): Show c.369+14621_369+14634dupCTCTCTCTCTCTCT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37547160	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01109.hp2 others(8): Show HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01934.hp2 HG01978.hp2 HG02148.hp2 HG02602.hp1 HG02602.hp2 HG03492.hp1 HG03704.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0036	a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0149 others(8): Show a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0005g0140 a0001c0002t0036g0150	11	184	0.0598	14	c.286 others(33): Show c.286+18182_286+18195dupACACACACACACAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12			chr18	TogoVar
CELF5_chr19_3219661_3302076	3226440	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00597.hp2 others(54): Show HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01167.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG02040.hp1 HG02040.hp2 HG02132.hp1 HG02148.hp2 HG02280.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02717.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03471.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 NA18977.hp2 NA18980.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19074.hp2 NA19087.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0005 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 others(54): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0002g0011 a0001c0001t0002g0051 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0242 a0001c0001t0003g0105 a0001c0001t0003g0162 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0004g0008 a0001c0001t0004g0102 a0001c0001t0004g0109 a0001c0001t0004g0180 a0001c0001t0004g0212 a0001c0001t0005g0007 a0001c0001t0005g0092 a0001c0001t0005g0107 a0001c0001t0005g0126 a0001c0001t0005g0164 a0001c0001t0005g0181 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0241 a0001c0001t0006g0091 a0001c0001t0006g0096 a0001c0001t0008g0118 a0001c0002t0005g0093 a0001c0003t0003g0098 a0001c0003t0004g0243 a0001c0003t0005g0099	57	262	0.2176	14	c.259 others(31): Show c.259+1465_259+1478dupCACACACACACACA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3256064	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	262	0.0038	14	c.342 others(31): Show c.342+5006_342+5007insAAAAAAAAAAAAAA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3299037	G G	GAAGGAAA others(7): Show GAAGGAAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01106.hp2 others(9): Show HG00733.hp1 HG00735.hp1 HG01106.hp2 HG01175.hp1 HG01516.hp2 HG02055.hp2 HG02148.hp1 HG02602.hp1 HG02622.hp1 HG02738.hp1 HG03225.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0004 a0001c0001t0006 a0001c0003t0004 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0003t0004 a0001c0003t0005 a0001c0005t0007 a0001c0006t0004	a0001c0001t0004g0008 a0001c0001t0006g0250 a0001c0003t0004g0128 others(9): Show a0001c0001t0004g0008 a0001c0001t0006g0250 a0001c0003t0004g0128 a0001c0003t0004g0131 a0001c0003t0004g0134 a0001c0003t0004g0220 a0001c0003t0004g0237 a0001c0003t0004g0243 a0001c0003t0004g0261 a0001c0003t0005g0099 a0001c0005t0007g0045 a0001c0006t0004g0137	12	262	0.0458	14	c.23 others(25): Show c.2320_*2321insAAGGAAAGGAAGGA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		1962		chr19	TogoVar
CELF6_chr15_72279727_72325157	72314589	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp1 HG02486.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0169 a0001c0001t0002g0170	2	300	0.0067	14	c.345 others(31): Show c.345+1242_345+1255dupAAAAAAAAAAAAAA	CELF6	ENSG00000140488.16	transcript	ENST00000287202.10	protein_coding	2/12			chr15	TogoVar
CELSR1_chr22_46356174_46542620	46460211	A A	ACCCACAC others(7): Show ACCCACACCCACACC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG00099.hp2 HG01081.hp2	a0001 a0006 a0001 a0006	a0001c0031 a0006c0026 a0001c0031 a0006c0026	a0001c0031t0001 a0006c0026t0001 a0001c0031t0001 a0006c0026t0001	a0001c0031t0001g0047 a0006c0026t0001g0048 a0001c0031t0001g0047 a0006c0026t0001g0048	2	104	0.0192	14	c.418 others(33): Show c.4183+3495_4183+3496insGGTGTGGGTGTGGG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	2/34			chr22	TogoVar
CEMIP2_chr9_71678366_71773513	71683549	C C	CACACACA others(7): Show CACACACACACTCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00609.hp1 others(63): Show HG00140.hp2 HG00323.hp1 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG01106.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp2 HG02145.hp2 HG02280.hp1 HG02300.hp1 HG02572.hp2 HG03098.hp2 HG03139.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 NA18747.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18981.hp1 NA18989.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19063.hp2 NA19070.hp2 NA19083.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0010 a0012 a0014 a0015	a0001c0001 a0002c0002 a0002c0007 others(9): Show a0001c0001 a0002c0002 a0002c0007 a0002c0008 a0003c0005 a0003c0012 a0004c0003 a0005c0004 a0010c0020 a0012c0036 a0014c0028 a0015c0030	a0001c0001t0002 a0001c0001t0003 a0001c0001t0050 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0050 a0002c0002t0002 a0002c0002t0003 a0002c0007t0003 a0002c0008t0003 a0003c0005t0002 a0003c0005t0003 a0003c0005t0055 a0003c0005t0056 a0003c0012t0002 a0004c0003t0002 a0004c0003t0003 a0004c0003t0051 a0005c0004t0022 a0005c0004t0034 a0010c0020t0003 a0012c0036t0002 a0014c0028t0058 a0015c0030t0003	a0001c0001t0002g0001 a0001c0001t0002g0109 a0001c0001t0002g0125 others(62): Show a0001c0001t0002g0001 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0211 a0001c0001t0002g0242 a0001c0001t0002g0278 a0001c0001t0002g0294 a0001c0001t0002g0300 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0003g0028 a0001c0001t0003g0108 a0001c0001t0003g0130 a0001c0001t0003g0163 a0001c0001t0003g0177 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0193 a0001c0001t0003g0202 a0001c0001t0003g0234 a0001c0001t0003g0262 a0001c0001t0003g0287 a0001c0001t0050g0107 a0002c0002t0002g0037 a0002c0002t0002g0082 a0002c0002t0003g0065 a0002c0007t0003g0238 a0002c0008t0003g0092 a0003c0005t0002g0095 a0003c0005t0002g0124 a0003c0005t0003g0113 a0003c0005t0003g0121 a0003c0005t0055g0105 a0003c0005t0056g0116 a0003c0012t0002g0070 a0004c0003t0002g0152 a0004c0003t0002g0153 a0004c0003t0002g0171 a0004c0003t0002g0187 a0004c0003t0002g0207 a0004c0003t0003g0214 a0004c0003t0003g0299 a0004c0003t0051g0210 a0005c0004t0022g0003 a0005c0004t0022g0020 a0005c0004t0034g0019 a0010c0020t0003g0068 a0012c0036t0002g0072 a0014c0028t0058g0254 a0015c0030t0003g0114	66	320	0.2063	14	c.16 others(25): Show c.1647_*1648insTTGAGTGTGTGTGT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	24/24	1647		chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71687462	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02257.hp1 HG02451.hp1 HG01168.hp1 HG02257.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018	a0001c0001t0012g0239 a0001c0001t0014g0284 a0001c0001t0018g0302 a0001c0001t0012g0239 a0001c0001t0014g0284 a0001c0001t0018g0302	3	320	0.0094	14	c.385 others(33): Show c.3852-1630_3852-1617dupCACACACACACACA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	22/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71692365	A A	ATCTCTCT others(7): Show ATCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03579.hp2 HG03139.hp1 HG03579.hp2	a0003 a0014 a0003 a0014	a0003c0005 a0014c0028 a0003c0005 a0014c0028	a0003c0005t0008 a0014c0028t0058 a0003c0005t0008 a0014c0028t0058	a0003c0005t0008g0101 a0014c0028t0058g0254 a0003c0005t0008g0101 a0014c0028t0058g0254	2	320	0.0063	14	c.369 others(33): Show c.3696+2130_3697-2120dupGAGAGAGAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	21/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71715625	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01517.hp1 HG01978.hp2 others(17): Show HG01106.hp1 HG01517.hp1 HG01978.hp2 HG02145.hp2 HG02602.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG04199.hp1 NA18948.hp2 NA18959.hp2 NA18965.hp1 NA18965.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19060.hp1 NA19087.hp2 NA19090.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0003 a0009c0016 a0001c0001 a0004c0003 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0019 a0001c0001t0021 a0004c0003t0001 a0004c0003t0003 a0004c0003t0014 a0009c0016t0004	a0001c0001t0001g0106 a0001c0001t0002g0142 a0001c0001t0002g0170 others(17): Show a0001c0001t0001g0106 a0001c0001t0002g0142 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0211 a0001c0001t0002g0294 a0001c0001t0003g0028 a0001c0001t0003g0130 a0001c0001t0003g0177 a0001c0001t0003g0193 a0001c0001t0010g0029 a0001c0001t0019g0136 a0001c0001t0019g0215 a0001c0001t0021g0203 a0004c0003t0001g0122 a0004c0003t0001g0167 a0004c0003t0003g0214 a0004c0003t0003g0299 a0004c0003t0014g0030 a0009c0016t0004g0181	20	320	0.0625	14	c.243 others(31): Show c.2436-550_2436-537dupATATATATATATAT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	14/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728302	C C	CGTATATA others(7): Show CGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03669.hp2 NA19043.hp1 HG02698.hp2 HG03669.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0003 a0001c0001t0010 a0001c0023t0025 a0001c0001t0003 a0001c0001t0010 a0001c0023t0025	a0001c0001t0003g0234 a0001c0001t0010g0132 a0001c0023t0025g0256 a0001c0001t0003g0234 a0001c0001t0010g0132 a0001c0023t0025g0256	3	320	0.0094	14	c.204 others(33): Show c.2049+1542_2049+1543insATATATATATATAC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71755346	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01943.hp1 others(28): Show HG01243.hp1 HG01361.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02559.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03831.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18944.hp1 NA18952.hp1 NA18961.hp2 NA18970.hp2 NA18989.hp2 NA18997.hp1 NA19000.hp2 NA19001.hp1 NA19009.hp2 NA19055.hp2 NA19057.hp2 NA19068.hp2 NA19088.hp2 NA20129.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0007 a0010 a0012 a0013	a0001c0038 a0002c0002 a0002c0007 others(6): Show a0001c0038 a0002c0002 a0002c0007 a0005c0004 a0006c0037 a0007c0010 a0010c0020 a0012c0036 a0013c0035	a0001c0038t0010 a0002c0002t0001 a0002c0002t0003 others(13): Show a0001c0038t0010 a0002c0002t0001 a0002c0002t0003 a0002c0002t0010 a0002c0002t0021 a0002c0002t0026 a0002c0002t0053 a0002c0007t0007 a0002c0007t0008 a0002c0007t0013 a0005c0004t0001 a0006c0037t0004 a0007c0010t0004 a0010c0020t0012 a0012c0036t0002 a0013c0035t0016	a0001c0038t0010g0268 a0002c0002t0001g0038 a0002c0002t0001g0039 others(28): Show a0001c0038t0010g0268 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0064 a0002c0002t0001g0069 a0002c0002t0001g0074 a0002c0002t0001g0081 a0002c0002t0001g0295 a0002c0002t0003g0065 a0002c0002t0010g0073 a0002c0002t0021g0063 a0002c0002t0026g0060 a0002c0002t0053g0075 a0002c0007t0007g0236 a0002c0007t0007g0237 a0002c0007t0008g0269 a0002c0007t0013g0253 a0005c0004t0001g0231 a0006c0037t0004g0235 a0007c0010t0004g0036 a0007c0010t0004g0197 a0007c0010t0004g0199 a0010c0020t0012g0051 a0012c0036t0002g0072 a0013c0035t0016g0048	31	320	0.0969	14	c.-12 others(31): Show c.-12-4975_-12-4962dupGTGTGTGTGTGTGT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP_chr15_80774370_80956771	80786556	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG03225.hp2 others(3): Show HG02723.hp2 HG02970.hp2 HG03225.hp2 HG03579.hp1 NA18970.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0029	a0001c0001t0001 a0001c0002t0018 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0018 a0001c0006t0001 a0001c0029t0001	a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0001g0185 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0001g0185 a0001c0002t0018g0110 a0001c0006t0001g0242 a0001c0029t0001g0111	6	254	0.0236	14	c.-17 others(33): Show c.-176+6968_-176+6981dupGTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80800021	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01934.hp1 HG02145.hp1 others(13): Show HG01109.hp1 HG01934.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02486.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03669.hp1 HG03927.hp2 NA18939.hp1 NA18939.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0010	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0029 a0002c0004 a0009c0025 a0010c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0005t0008 a0001c0006t0001 a0001c0007t0003 a0001c0029t0001 a0002c0004t0001 a0009c0025t0001 a0010c0032t0004	a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0001g0084 others(13): Show a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0001g0236 a0001c0001t0002g0209 a0001c0001t0006g0135 a0001c0001t0007g0016 a0001c0001t0007g0228 a0001c0002t0001g0091 a0001c0005t0008g0187 a0001c0006t0001g0072 a0001c0007t0003g0054 a0001c0029t0001g0111 a0002c0004t0001g0195 a0009c0025t0001g0025 a0010c0032t0004g0075	16	254	0.0630	14	c.-17 others(35): Show c.-176+20435_-176+20448dupGTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80829965	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02630.hp2 HG02015.hp2 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0008 a0002c0004t0023 a0001c0005t0008 a0002c0004t0023	a0001c0005t0008g0018 a0002c0004t0023g0194 a0001c0005t0008g0018 a0002c0004t0023g0194	2	254	0.0079	14	c.-17 others(35): Show c.-175-43549_-175-43536dupTGTGTGTGTGTGTG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80829990	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	254	0.0039	14	c.-17 others(35): Show c.-175-43536_-175-43535insTTTGTGTGTGTGTG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80832322	C C	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG04184.hp2 NA18994.hp2 HG02809.hp2 HG04184.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 a0001c0001t0001 a0001c0001t0006 a0001c0001t0019	a0001c0001t0001g0158 a0001c0001t0006g0135 a0001c0001t0019g0149 a0001c0001t0001g0158 a0001c0001t0006g0135 a0001c0001t0019g0149	3	254	0.0118	14	c.-17 others(35): Show c.-175-41215_-175-41214insCTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80832322	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01358.hp1 others(10): Show HG00735.hp2 HG00741.hp2 HG01358.hp1 HG02109.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG03130.hp1 HG03516.hp2 HG03688.hp1 NA18970.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0005t0003 a0001c0005t0008 a0001c0007t0003 a0001c0008t0003	a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0092 others(10): Show a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0159 a0001c0001t0001g0185 a0001c0002t0001g0251 a0001c0003t0001g0002 a0001c0003t0001g0117 a0001c0003t0002g0202 a0001c0005t0003g0162 a0001c0005t0008g0018 a0001c0007t0003g0132 a0001c0008t0003g0140	13	254	0.0512	14	c.-17 others(35): Show c.-175-41190_-175-41177dupGTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80839289	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01361.hp1 HG02132.hp2 others(17): Show HG01243.hp2 HG01361.hp1 HG02132.hp2 HG02683.hp1 HG03239.hp1 HG03540.hp2 HG03831.hp2 HG03834.hp1 HG06807.hp1 NA18612.hp2 NA18954.hp2 NA18959.hp1 NA18983.hp1 NA18986.hp2 NA19004.hp2 NA19030.hp1 NA19043.hp1 NA19065.hp2 NA19066.hp1 NA19086.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0010 others(4): Show a0001c0001 a0001c0002 a0001c0010 a0001c0028 a0001c0030 a0002c0004 a0004c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0010t0001 a0001c0028t0017 a0001c0030t0020 a0002c0004t0001 a0004c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0199 a0001c0001t0002g0210 a0001c0001t0002g0224 a0001c0001t0015g0024 a0001c0001t0024g0004 a0001c0002t0001g0006 a0001c0002t0002g0227 a0001c0002t0003g0103 a0001c0010t0001g0165 a0001c0028t0017g0134 a0001c0030t0020g0108 a0002c0004t0001g0056 a0004c0016t0001g0184	20	254	0.0787	14	c.-17 others(35): Show c.-175-34220_-175-34207dupGTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80848900	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01255.hp2 others(18): Show HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01884.hp1 HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 NA20129.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0017 a0001c0029 a0006c0018 a0010c0032	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0001c0006t0001 a0001c0010t0001 a0001c0017t0001 a0001c0029t0001 a0006c0018t0002 a0010c0032t0004	a0001c0001t0001g0095 a0001c0001t0001g0155 a0001c0001t0001g0229 others(18): Show a0001c0001t0001g0095 a0001c0001t0001g0155 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0007g0016 a0001c0002t0001g0017 a0001c0002t0001g0119 a0001c0002t0001g0235 a0001c0002t0004g0139 a0001c0006t0001g0007 a0001c0006t0001g0096 a0001c0006t0001g0242 a0001c0010t0001g0136 a0001c0010t0001g0165 a0001c0017t0001g0186 a0001c0029t0001g0111 a0006c0018t0002g0226 a0010c0032t0004g0075	21	254	0.0827	14	c.-17 others(35): Show c.-175-24624_-175-24611dupACACACACACACAC	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900585	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA18974.hp2 NA19086.hp2 HG01258.hp2 NA18974.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0033 a0001c0001t0002g0215 a0001c0002t0001g0172 a0001c0001t0001g0033 a0001c0001t0002g0215 a0001c0002t0001g0172	3	254	0.0118	14	c.141 others(33): Show c.1411+4576_1411+4589dupGTGTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900638	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01934.hp1 others(4): Show HG00558.hp1 HG00735.hp2 HG01934.hp1 HG01934.hp2 HG02300.hp1 NA18522.hp2 NA18906.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0021 a0001c0001 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0013c0021t0001	a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0085 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0085 a0001c0001t0001g0197 a0001c0001t0002g0209 a0001c0001t0010g0131 a0013c0021t0001g0087	7	254	0.0276	14	c.141 others(33): Show c.1411+4589_1411+4590insGTCTGTGTGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80926836	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG02145.hp1 others(4): Show HG01243.hp2 HG01255.hp2 HG02145.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0001c0006 a0001c0010 others(1): Show a0001c0002 a0001c0006 a0001c0010 a0010c0032	a0001c0002t0004 a0001c0006t0001 a0001c0010t0001 others(1): Show a0001c0002t0004 a0001c0006t0001 a0001c0010t0001 a0010c0032t0004	a0001c0002t0004g0139 a0001c0006t0001g0007 a0001c0006t0001g0072 others(4): Show a0001c0002t0004g0139 a0001c0006t0001g0007 a0001c0006t0001g0072 a0001c0006t0001g0096 a0001c0006t0001g0242 a0001c0010t0001g0165 a0010c0032t0004g0075	7	254	0.0276	14	c.242 others(33): Show c.2420+1093_2420+1094insTTTTTTTTTTTTTT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	19/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMP1_chr16_2525035_2536408	2533430	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(14): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00735.hp1 HG01069.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG02083.hp2 HG02896.hp2 HG03139.hp1 HG03654.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0000 a0001c0001t0004g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0001c0001t0004g0000 a0002c0002t0001g0000	17	348	0.0489	14	c.-23 others(25): Show c.-2358_-2357insAAAAAAAAAAAAAA	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding		2023		chr16	TogoVar
CEND1_chr11_782115_795090	794878	C C	CCATTGAT others(7): Show CCATTGATGAGCTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0027 a0002c0003t0003g0027	1	414	0.0024	14	c.-49 others(25): Show c.-4945_-4932dupCAAGCTCATCAATG	CEND1	ENSG00000184524.6	transcript	ENST00000330106.5	protein_coding		4789		chr11	TogoVar
CENPA_chr2_26781056_26799589	26784448	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02257.hp1 HG02486.hp1 others(9): Show HG01346.hp1 HG02257.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp2 HG02970.hp2 HG03098.hp1 HG03669.hp1 HG03704.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0010g0031	12	382	0.0314	14	c.-17 others(25): Show c.-1749_-1748insTTTTTTTTTTTTTT	CENPA	ENSG00000115163.15	transcript	ENST00000335756.9	protein_coding		1607		chr2	TogoVar
CENPC_chr4_67463762_67550503	67478666	A A	ACACACAC others(7): Show ACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0014 a0007c0009t0014	a0007c0009t0014g0246 a0007c0009t0014g0246	1	338	0.0030	14	c.267 others(33): Show c.2671-3689_2671-3688insGGTGTGTGTGTGTG	CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding	17/18			chr4	TogoVar

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