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	status	chr	external
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18998.hp2 NA18999.hp2 NA18981.hp1 NA18998.hp2 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0005 a0001c0001t0012 a0002c0002t0005	a0001c0001t0012g0117 a0001c0001t0012g0179 a0002c0002t0005g0178 a0001c0001t0012g0117 a0001c0001t0012g0179 a0002c0002t0005g0178	3	274	0.0110	16	c.133 others(35): Show c.1334-1182_1334-1181insAATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23	INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470495	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18612.hp2 NA19080.hp1 HG01069.hp2 NA18612.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0147 a0001c0001t0001g0232 a0001c0018t0001g0113 a0001c0001t0001g0147 a0001c0001t0001g0232 a0001c0018t0001g0113	3	274	0.0110	16	c.165 others(35): Show c.1655+2974_1655+2975insTATATATATATATTTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23	INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76483231	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	274	0.0037	16	c.188 others(35): Show c.1882+3725_1882+3740dupCACACACACACACACA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	12/23	INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76496085	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG03139.hp1 others(1): Show HG02451.hp2 HG02970.hp1 HG03139.hp1 NA19043.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0002c0012 a0006c0009 a0002c0002 a0002c0012 a0006c0009	a0002c0002t0002 a0002c0002t0028 a0002c0012t0008 others(1): Show a0002c0002t0002 a0002c0002t0028 a0002c0012t0008 a0006c0009t0001	a0002c0002t0002g0128 a0002c0002t0028g0239 a0002c0012t0008g0090 others(1): Show a0002c0002t0002g0128 a0002c0002t0028g0239 a0002c0012t0008g0090 a0006c0009t0001g0251	4	274	0.0146	16	c.223 others(35): Show c.2237+1026_2237+1041dupTGTGTGTGTGTGTGTG	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	14/23	INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76496107	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG01981.hp2 others(2): Show HG01069.hp1 HG01243.hp2 HG01981.hp2 HG03017.hp1 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0001c0001t0001 a0001c0001t0003 a0002c0002t0002	a0001c0001t0001g0097 a0001c0001t0003g0228 a0001c0001t0003g0229 others(2): Show a0001c0001t0001g0097 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0233 a0002c0002t0002g0224	5	274	0.0183	16	c.223 others(35): Show c.2237+1041_2237+1042insTGTGTGTGTGTGTGTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	14/23		chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76511838	G G	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp1 HG01106.hp2 others(17): Show HG00639.hp2 HG00673.hp1 HG01106.hp2 HG01255.hp2 HG02155.hp1 HG02698.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18955.hp2 NA18987.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19062.hp1 NA19070.hp1 NA19083.hp1 NA19091.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0008 a0010 a0016	a0001c0001 a0002c0002 a0002c0005 others(5): Show a0001c0001 a0002c0002 a0002c0005 a0005c0008 a0007c0013 a0008c0017 a0010c0016 a0016c0030	a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 a0002c0005t0002 a0005c0008t0001 a0005c0008t0003 a0007c0013t0004 a0008c0017t0002 a0010c0016t0002 a0016c0030t0004	a0001c0001t0001g0017 a0001c0001t0001g0062 a0001c0001t0001g0114 others(17): Show a0001c0001t0001g0017 a0001c0001t0001g0062 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0230 a0001c0001t0003g0116 a0001c0001t0003g0223 a0002c0002t0005g0018 a0002c0002t0005g0019 a0002c0002t0005g0178 a0002c0005t0002g0194 a0005c0008t0001g0061 a0005c0008t0001g0108 a0005c0008t0003g0152 a0007c0013t0004g0035 a0008c0017t0002g0068 a0008c0017t0002g0214 a0010c0016t0002g0135 a0010c0016t0002g0190 a0016c0030t0004g0071	20	274	0.0730	16	c.236 others(35): Show c.2366-9293_2366-9278dupGAGAGAGAGAGAGAGA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	15/23	INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522610	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02155.hp2 HG02602.hp2 others(10): Show HG01928.hp2 HG02155.hp2 HG02602.hp2 HG02886.hp2 HG03239.hp2 HG03471.hp2 HG03942.hp2 NA18944.hp2 NA18991.hp1 NA19043.hp1 NA19082.hp1 NA19240.hp2 NA20905.hp1	a0002 a0004 a0022 a0002 a0004 a0022	a0002c0002 a0002c0005 a0002c0012 others(4): Show a0002c0002 a0002c0005 a0002c0012 a0002c0042 a0004c0007 a0004c0010 a0022c0025	a0002c0002t0001 a0002c0002t0002 a0002c0005t0002 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0002 a0002c0012t0008 a0002c0042t0008 a0004c0007t0008 a0004c0010t0002 a0022c0025t0002	a0002c0002t0001g0125 a0002c0002t0002g0039 a0002c0002t0002g0042 others(10): Show a0002c0002t0001g0125 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0182 a0002c0005t0002g0194 a0002c0012t0008g0090 a0002c0012t0008g0242 a0002c0042t0008g0036 a0004c0007t0008g0238 a0004c0010t0002g0085 a0004c0010t0002g0086 a0004c0010t0002g0143 a0022c0025t0002g0110	13	274	0.0475	16	c.275 others(33): Show c.2755+365_2755+380dupCTTCCTTCCTTCCTTC	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23	INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522634	C C	CTTCCTTC others(9): Show CTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01081.hp2 others(28): Show HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp2 HG01884.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04184.hp1 NA18906.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19012.hp2 NA19083.hp1 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0009 a0015 a0021 a0026	a0001c0001 a0001c0004 a0001c0015 others(10): Show a0001c0001 a0001c0004 a0001c0015 a0002c0002 a0002c0005 a0003c0003 a0003c0006 a0004c0007 a0006c0009 a0009c0044 a0015c0034 a0021c0037 a0026c0041	a0001c0001t0003 a0001c0001t0004 a0001c0004t0006 others(17): Show a0001c0001t0003 a0001c0001t0004 a0001c0004t0006 a0001c0015t0004 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0028 a0002c0005t0004 a0003c0003t0004 a0003c0003t0006 a0003c0003t0011 a0003c0006t0006 a0004c0007t0002 a0004c0007t0026 a0006c0009t0004 a0009c0044t0006 a0015c0034t0006 a0021c0037t0006 a0026c0041t0004	a0001c0001t0003g0228 a0001c0001t0004g0053 a0001c0001t0004g0191 others(28): Show a0001c0001t0003g0228 a0001c0001t0004g0053 a0001c0001t0004g0191 a0001c0004t0006g0225 a0001c0015t0004g0089 a0002c0002t0002g0115 a0002c0002t0002g0128 a0002c0002t0002g0167 a0002c0002t0002g0206 a0002c0002t0004g0150 a0002c0002t0005g0018 a0002c0002t0005g0019 a0002c0002t0005g0178 a0002c0002t0028g0239 a0002c0005t0004g0173 a0003c0003t0004g0270 a0003c0003t0006g0045 a0003c0003t0006g0264 a0003c0003t0006g0268 a0003c0003t0011g0243 a0003c0003t0011g0244 a0003c0003t0011g0246 a0003c0006t0006g0063 a0003c0006t0006g0205 a0004c0007t0002g0199 a0004c0007t0026g0073 a0006c0009t0004g0273 a0009c0044t0006g0247 a0015c0034t0006g0209 a0021c0037t0006g0171 a0026c0041t0004g0193	31	274	0.1131	16	c.275 others(33): Show c.2755+380_2755+381insCTTCCTTCCTTCTTTC	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23	INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124040621	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20300.hp1 HG02922.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0022 a0001c0001t0002g0023	2	64	0.0313	16	c.82+ others(33): Show c.82+14909_82+14924dupGTGTGTGTGTGTGTGT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124115792	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02257.hp2 others(1): Show HG01891.hp2 HG02257.hp1 HG02257.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0005 a0001c0002t0001 a0003c0007t0001 a0001c0001t0005 a0001c0002t0001 a0003c0007t0001	a0001c0001t0005g0040 a0001c0002t0001g0059 a0001c0002t0001g0064 others(1): Show a0001c0001t0005g0040 a0001c0002t0001g0059 a0001c0002t0001g0064 a0003c0007t0001g0017	4	64	0.0625	16	c.82+ others(33): Show c.82+90080_82+90095dupGTGTGTGTGTGTGTGT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124398480	C C	CTTTATTT others(9): Show CTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01070.hp1 HG01070.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0001 a0001c0001t0002 a0005c0005t0001	a0001c0001t0002g0042 a0005c0005t0001g0008 a0001c0001t0002g0042 a0005c0005t0001g0008	2	64	0.0313	16	c.382 others(35): Show c.382-18947_382-18932dupATTTATTTATTTATTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	3/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124419140	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02293.hp2 HG03704.hp1 HG01070.hp1 HG02293.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0020g0014 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0020g0014	3	64	0.0469	16	c.529 others(33): Show c.529+1558_529+1573dupAAAAAAAAAAAAAAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124419896	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG02257.hp1 HG00423.hp1 HG00423.hp2 HG02257.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0003c0007t0001 a0001c0001t0001 a0001c0001t0002 a0003c0007t0001	a0001c0001t0001g0010 a0001c0001t0002g0019 a0003c0007t0001g0017 a0001c0001t0001g0010 a0001c0001t0002g0019 a0003c0007t0001g0017	3	64	0.0469	16	c.529 others(33): Show c.529+2351_529+2366dupTTTCTTTCTTTCTTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124451077	T T	TATATATA others(9): Show TATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	64	0.0156	16	c.918 others(33): Show c.918+4141_918+4142insTATATATACACACACA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	6/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124451077	T T	TATATATA others(9): Show TATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	1	64	0.0156	16	c.918 others(33): Show c.918+4141_918+4142insTATATATATACACACA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	6/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124451077	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	64	0.0156	16	c.918 others(33): Show c.918+4141_918+4142insTATATATATATACACA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	6/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124485631	A A	AAAAAAAA others(9): Show AAAAAAAAAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	64	0.0156	16	c.106 others(37): Show c.1062+10752_1062+10753insAAAAAAGAAGAAGAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	7/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124510273	C C	CTATATCT others(9): Show CTATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02717.hp1 others(8): Show HG02257.hp1 HG02451.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0003c0007t0001	a0001c0002t0001g0046 a0001c0002t0001g0063 a0001c0002t0002g0031 others(8): Show a0001c0002t0001g0046 a0001c0002t0001g0063 a0001c0002t0002g0031 a0001c0002t0002g0060 a0001c0002t0004g0044 a0001c0002t0004g0047 a0001c0002t0005g0045 a0001c0002t0008g0058 a0001c0002t0010g0032 a0001c0002t0012g0018 a0003c0007t0001g0017	11	64	0.1719	16	c.132 others(35): Show c.1327+5728_1327+5729insATCTATATATCTATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124510299	A A	ATATATAT others(9): Show ATATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp1 NA18906.hp1 others(1): Show HG02451.hp2 HG03225.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0011 others(1): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0011 a0001c0002t0019	a0001c0002t0001g0062 a0001c0002t0006g0028 a0001c0002t0011g0029 others(1): Show a0001c0002t0001g0062 a0001c0002t0006g0028 a0001c0002t0011g0029 a0001c0002t0019g0051	4	64	0.0625	16	c.132 others(35): Show c.1327+5744_1327+5745insATATATCTATATATCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124510301	C C	CTATATCT others(9): Show CTATATCTATATATCTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19043.hp2 NA18906.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0002c0004t0001 a0001c0001t0004 a0002c0004t0001	a0001c0001t0004g0053 a0002c0004t0001g0001 a0001c0001t0004g0053 a0002c0004t0001g0001	2	64	0.0313	16	c.132 others(35): Show c.1327+5750_1327+5751insCTATATATCTATATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124510348	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	64	0.0156	16	c.132 others(35): Show c.1327+5818_1327+5833dupCACACACACACACACA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124510518	T T	TATATATA others(9): Show TATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0028 a0001c0002t0006g0028	1	64	0.0156	16	c.132 others(35): Show c.1327+5963_1327+5964insTATATACACACACACA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124588157	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	64	0.0156	16	c.175 others(37): Show c.1757-21636_1757-21621dupCTTCCTTCCTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655937	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18906.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0062 a0001c0002t0002g0030 a0001c0002t0001g0062 a0001c0002t0002g0030	2	64	0.0313	16	c.207 others(35): Show c.2077+7982_2077+7983insAAGAAAGAAAGAAAGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655941	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	64	0.0156	16	c.207 others(35): Show c.2077+7986_2077+7987insAAGAAAGAAAGAAAGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655945	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 NA21309.hp2 HG01891.hp2 HG02970.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0001 a0001c0001t0013 a0001c0002t0001	a0001c0001t0013g0041 a0001c0002t0001g0054 a0001c0002t0001g0059 a0001c0001t0013g0041 a0001c0002t0001g0054 a0001c0002t0001g0059	3	64	0.0469	16	c.207 others(35): Show c.2077+8025_2077+8040dupGAAAGAAAGAAAGAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124670133	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp1 HG02897.hp1 others(2): Show HG01261.hp1 HG01891.hp1 HG02897.hp1 HG03486.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0026 a0001c0001t0002g0049 a0001c0001t0007g0039 others(2): Show a0001c0001t0001g0026 a0001c0001t0002g0049 a0001c0001t0007g0039 a0001c0001t0017g0012 a0001c0001t0018g0021	5	64	0.0781	16	c.207 others(37): Show c.2077+22205_2077+22220dupTCCTTCCTTCCTTCCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124670175	T T	TCCTTCCT others(9): Show TCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0038 a0002c0008t0001g0038	1	64	0.0156	16	c.207 others(37): Show c.2077+22220_2077+22221insTCCTTCCTTCCTCCCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124674509	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	64	0.0156	16	c.207 others(37): Show c.2077+26580_2077+26595dupTCTTTCTTTCTTTCTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124674542	T T	TCTTTCTT others(9): Show TCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	64	0.0156	16	c.207 others(37): Show c.2077+26595_2077+26596insTCTTCCTTTCTTTCTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124713318	C C	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	64	0.0156	16	c.207 others(37): Show c.2078-33863_2078-33848dupTCTTTCTTTCTTTCTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124721500	A A	AATAAATA others(9): Show AATAAATAAATAAATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG02257.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0040 a0001c0002t0005g0045 a0001c0001t0005g0040 a0001c0002t0005g0045	2	64	0.0313	16	c.207 others(37): Show c.2078-25718_2078-25717insAATACATAAATAAATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786352	G G	GAAGAAAG others(9): Show GAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0018 a0001c0002t0012g0018	1	64	0.0156	16	c.275 others(35): Show c.2753-3516_2753-3501dupAGAAAGAAAGAAAGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786398	A A	AGAAAGAA others(9): Show AGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	64	0.0156	16	c.275 others(35): Show c.2753-3501_2753-3500insAGAAAGAAGGAAGGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124871270	A A	ATATTTAT others(9): Show ATATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1 HG02451.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0002t0006g0028 a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0002t0006g0028	3	64	0.0469	16	c.343 others(35): Show c.3436+1514_3436+1515insTTTATTTATTTATTTA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124871277	C C	CTTATTTA others(9): Show CTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18906.hp2 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0053 a0001c0001t0013g0041 a0001c0001t0004g0053 a0001c0001t0013g0041	2	64	0.0313	16	c.343 others(35): Show c.3436+1518_3436+1519insTTTATTTATTTATTTA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124909826	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp1 HG02886.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0006 a0001c0002t0003g0004 a0001c0001t0003g0006 a0001c0002t0003g0004	2	64	0.0313	16	c.365 others(35): Show c.3656-1624_3656-1609dupATATATATATATATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	22/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTRL_chr9_121069955_121182610	121092478	A A	ATATATAA others(9): Show ATATATAAATATATATC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	330	0.0030	16	c.348 others(33): Show c.348+2079_348+2080insAATATATATCTATATA	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43	INFO_REALIGN_3_PRIME	chr9	TogoVar
COA1_chr7_43634257_43734523	43644710	T T	TTAGATAG others(9): Show TTAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp1 HG03239.hp1 others(4): Show HG02027.hp2 HG02080.hp1 HG03239.hp1 NA19058.hp2 NA19060.hp1 NA19067.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0299 a0001c0001t0002g0301 others(4): Show a0001c0001t0002g0273 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0322 a0001c0001t0002g0334 a0001c0001t0002g0340 a0001c0001t0002g0353	7	384	0.0182	16	c.264 others(31): Show c.264+525_264+540dupTCTATCTATCTATCTA	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5		chr7	TogoVar
COA1_chr7_43634257_43734523	43644740	A A	AGATAGAT others(9): Show AGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA20752.hp1 NA18985.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0268 a0001c0001t0001g0245 a0001c0001t0001g0268	2	384	0.0052	16	c.264 others(31): Show c.264+510_264+511insCATCTATCTATCTATC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5		chr7	TogoVar
COA1_chr7_43634257_43734523	43644748	A A	AGATAGAT others(9): Show AGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	384	0.0026	16	c.264 others(31): Show c.264+502_264+503insCATCTATCTATCTATC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5		chr7	TogoVar
COA1_chr7_43634257_43734523	43644799	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02165.hp1 HG02723.hp1 others(1): Show HG01934.hp1 HG02165.hp1 HG02723.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0195 others(1): Show a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0222	4	384	0.0104	16	c.264 others(31): Show c.264+436_264+451dupCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5		chr7	TogoVar
COA1_chr7_43634257_43734523	43644817	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0374 a0001c0001t0001g0374	1	384	0.0026	16	c.264 others(31): Show c.264+433_264+434insGTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5		chr7	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG00741.hp2 others(5): Show HG00544.hp1 HG00621.hp2 HG00741.hp2 HG01074.hp2 HG02451.hp1 NA18946.hp2 NA19000.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0027 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114	8	384	0.0208	16	c.-38 others(35): Show c.-38-15467_-38-15452dupCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5		chr7	TogoVar
COA1_chr7_43634257_43734523	43691265	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18961.hp1 HG01099.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0354 a0001c0001t0002g0297 a0001c0001t0002g0354	2	384	0.0052	16	c.-39 others(35): Show c.-39+38148_-39+38163dupCTTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5		chr7	TogoVar
COA1_chr7_43634257_43734523	43691265	A A	AAAGAAAA others(9): Show AAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	384	0.0026	16	c.-39 others(35): Show c.-39+38163_-39+38164insCTTTCTTTCTTTTCTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5		chr7	TogoVar
COA1_chr7_43634257_43734523	43691269	G G	GAAAAGAA others(9): Show GAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	384	0.0026	16	c.-39 others(35): Show c.-39+38159_-39+38160insTCTTTTCTTTTCTTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5		chr7	TogoVar
COA1_chr7_43634257_43734523	43691377	G G	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02523.hp2 NA18941.hp1 others(4): Show HG00140.hp1 HG02523.hp2 NA18941.hp1 NA18965.hp2 NA19010.hp2 NA19058.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0292 a0001c0001t0002g0301 others(4): Show a0001c0001t0002g0279 a0001c0001t0002g0292 a0001c0001t0002g0301 a0001c0001t0002g0311 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0002g0350	7	384	0.0182	16	c.-39 others(35): Show c.-39+38036_-39+38051dupTCCTTCCTTCCTTCCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5		chr7	TogoVar
COA1_chr7_43634257_43734523	43691377	G G	GAGGGAGG others(9): Show GAGGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	384	0.0026	16	c.-39 others(35): Show c.-39+38051_-39+38052insTCCTTCCTTCCTCCCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5		chr7	TogoVar
COA1_chr7_43634257_43734523	43691412	G G	GAAGGAAG others(9): Show GAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	384	0.0026	16	c.-39 others(35): Show c.-39+38016_-39+38017insTCTTCCTTCCTTCCTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5		chr7	TogoVar

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