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
CNTN6_chr3_1088024_1409217	1160365	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02486.hp2 others(2): Show HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02965.hp2 HG03209.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0006 a0002c0011 a0004c0016 a0001c0006 a0002c0011 a0004c0016	a0001c0006t0001 a0001c0006t0004 a0002c0011t0001 others(1): Show a0001c0006t0001 a0001c0006t0004 a0002c0011t0001 a0004c0016t0001	a0001c0006t0001g0162 a0001c0006t0004g0119 a0002c0011t0001g0006 others(2): Show a0001c0006t0001g0162 a0001c0006t0004g0119 a0002c0011t0001g0006 a0004c0016t0001g0002 a0004c0016t0001g0003	5	232	0.0216	26	c.55+ others(43): Show c.55+12305_55+12306insTATATATATATATATATATATACATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1160367	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02717.hp1 HG03195.hp1 HG01978.hp1 HG02717.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0003t0001 a0001c0005t0002 a0001c0002t0001 a0001c0003t0001 a0001c0005t0002	a0001c0002t0001g0147 a0001c0003t0001g0177 a0001c0005t0002g0115 a0001c0002t0001g0147 a0001c0003t0001g0177 a0001c0005t0002g0115	3	232	0.0129	26	c.55+ others(43): Show c.55+12305_55+12306insTATATATATATATATATATATATACA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245264	T T	TATATATA others(19): Show TATATATAACATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20129.hp2 HG03130.hp1 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0001 a0001c0008t0001 a0001c0005t0001 a0001c0008t0001	a0001c0005t0001g0230 a0001c0008t0001g0218 a0001c0005t0001g0230 a0001c0008t0001g0218	2	232	0.0086	26	c.358 others(45): Show c.358+17278_358+17279insACATATATATATATATAACATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1280459	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0179 a0002c0017t0001g0179	1	232	0.0043	26	c.454 others(43): Show c.454+1974_454+1975insTTTTTTTTTTTTTTTTTTTTTTTTTT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1384760	C C	CATATATA others(19): Show CATATATATACACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	232	0.0043	26	c.251 others(43): Show c.2518-841_2518-816dupCACATATATATATATATATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1389565	T T	TATTAACT others(19): Show TATTAACTTTAAATGTAAATGGACTAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG00741.hp1 others(18): Show HG00140.hp2 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG02027.hp1 HG02738.hp1 HG02738.hp2 HG03654.hp1 HG03710.hp1 NA18747.hp2 NA18948.hp1 NA18954.hp2 NA18972.hp1 NA18980.hp2 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0001c0008	a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 others(3): Show a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0007t0002 a0001c0007t0006 a0001c0008t0001	a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0174 others(18): Show a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0174 a0001c0003t0001g0076 a0001c0007t0001g0001 a0001c0007t0001g0014 a0001c0007t0001g0015 a0001c0007t0001g0017 a0001c0007t0001g0048 a0001c0007t0001g0052 a0001c0007t0001g0102 a0001c0007t0001g0146 a0001c0007t0001g0155 a0001c0007t0002g0032 a0001c0007t0006g0170 a0001c0008t0001g0043 a0001c0008t0001g0075 a0001c0008t0001g0087 a0001c0008t0001g0120 a0001c0008t0001g0167 a0001c0008t0001g0169	21	232	0.0905	26	c.270 others(45): Show c.2704+3771_2704+3796dupTAACTTTAAATGTAAATGGACTAAAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146535161	T T	TATATTAT others(19): Show TATATTATATCATATATCATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA20129.hp1 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0004 a0001c0006t0009 a0001c0003t0004 a0001c0006t0009	a0001c0003t0004g0029 a0001c0006t0009g0028 a0001c0003t0004g0029 a0001c0006t0009g0028	2	40	0.0500	26	c.98- others(45): Show c.98-239067_98-239042dupCATATATATGATATTATATCATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146665788	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA21309.hp1 HG02451.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0002 a0001c0002t0001 a0001c0010t0002	a0001c0002t0001g0007 a0001c0010t0002g0014 a0001c0002t0001g0007 a0001c0010t0002g0014	2	40	0.0500	26	c.98- others(45): Show c.98-108473_98-108472insAAAAAAAAAAAAAAACAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146665788	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0029 a0001c0003t0004g0029	1	40	0.0250	26	c.98- others(45): Show c.98-108473_98-108472insAAAAAAAAAAAAAACCAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146927531	A A	AATACAAT others(19): Show AATACAATATACAATTTGTATAAAGAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19030.hp1 NA21309.hp1 HG02451.hp2 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 a0001c0001t0001 a0001c0001t0002 a0001c0010t0002	a0001c0001t0001g0038 a0001c0001t0002g0006 a0001c0010t0002g0014 a0001c0001t0001g0038 a0001c0001t0002g0006 a0001c0010t0002g0014	3	40	0.0750	26	c.402 others(45): Show c.402+87663_402+87688dupACAATTTGTATAAAGATATACAATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147249604	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	40	0.0250	26	c.134 others(47): Show c.1349-50516_1349-50515insAAAAAAAAAAAAAAAAAAAAAAAA AA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147353110	T T	TGTATATG others(19): Show TGTATATGTATATATACATACATATAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0025 a0001c0008t0001g0025	1	40	0.0250	26	c.149 others(47): Show c.1499-42489_1499-42464dupTATATACATACATATACGTATATG TA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147421585	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG01891.hp1 HG02630.hp1	a0001 a0004 a0001 a0004	a0001c0012 a0004c0014 a0001c0012 a0004c0014	a0001c0012t0004 a0004c0014t0021 a0001c0012t0004 a0004c0014t0021	a0001c0012t0004g0026 a0004c0014t0021g0022 a0001c0012t0004g0026 a0004c0014t0021g0022	2	40	0.0500	26	c.167 others(47): Show c.1670+25809_1670+25834dupGTGTGTGTGTGTGTGTGTGTGTGT GT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147510850	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0016 a0001c0011t0016	a0001c0011t0016g0019 a0001c0011t0016g0019	1	40	0.0250	26	c.177 others(47): Show c.1777+24830_1777+24831insTATATATATATATATATATATATA TA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147635198	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0004 a0001c0004t0005g0004	1	40	0.0250	26	c.189 others(45): Show c.1898-3905_1898-3904insATATATATATATATATATATATGTAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147919459	C C	CTTTCTTT others(19): Show CTTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp2 HG03239.hp1 HG03239.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0002 a0003c0007t0017 a0001c0002t0002 a0003c0007t0017	a0001c0002t0002g0040 a0003c0007t0017g0031 a0001c0002t0002g0040 a0003c0007t0017g0031	2	40	0.0500	26	c.225 others(47): Show c.2255+15741_2255+15742insCTTTTTTTTTTTTTTTTTTTTTTT TT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147919459	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	40	0.0250	26	c.225 others(47): Show c.2255+15755_2255+15756insTTTTTTTTTTTTTTTTTTTTTTTT TT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147981786	G G	GGTATGTG others(19): Show GGTATGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0004 a0001c0004t0005g0004	1	40	0.0250	26	c.238 others(45): Show c.2383+3799_2383+3800insATGTGTGTGTGTGTGTGTGTGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148331711	G G	GTGGACGG others(19): Show GTGGACGGATGGAGTGGATGGATGGAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp2 HG02886.hp2 others(7): Show HG02630.hp1 HG02630.hp2 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03239.hp2 HG03540.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0001c0013 a0001c0015	a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 a0001c0003t0004 a0001c0003t0020 a0001c0005t0022 a0001c0012t0004 a0001c0013t0003 a0001c0015t0001	a0001c0001t0001g0003 a0001c0001t0018g0001 a0001c0002t0002g0013 others(7): Show a0001c0001t0001g0003 a0001c0001t0018g0001 a0001c0002t0002g0013 a0001c0002t0002g0040 a0001c0003t0004g0029 a0001c0003t0020g0017 a0001c0005t0022g0032 a0001c0012t0004g0026 a0001c0013t0003g0039 a0001c0015t0001g0011	10	40	0.2500	26	c.347 others(47): Show c.3476-51926_3476-51925insGTGGATGGATGGAATGGACGGATG GA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934122	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0006 a0005c0005t0006	a0005c0005t0006g0073 a0005c0005t0006g0073	1	108	0.0093	26	c.223 others(45): Show c.2237+4121_2237+4122insGTGTATATATATATATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934122	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 NA19030.hp1 HG02622.hp1 HG02622.hp2 NA19030.hp1	a0007 a0017 a0026 a0007 a0017 a0026	a0007c0016 a0017c0014 a0026c0025 a0007c0016 a0017c0014 a0026c0025	a0007c0016t0001 a0017c0014t0001 a0026c0025t0019 a0007c0016t0001 a0017c0014t0001 a0026c0025t0019	a0007c0016t0001g0036 a0017c0014t0001g0038 a0026c0025t0019g0028 a0007c0016t0001g0036 a0017c0014t0001g0038 a0026c0025t0019g0028	3	108	0.0278	26	c.223 others(45): Show c.2237+4121_2237+4122insGTATATATATATATATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42030813	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0013 a0001c0042t0013	a0001c0042t0013g0001 a0001c0042t0013g0001	1	108	0.0093	26	c.391 others(45): Show c.391-17314_391-17289dupTCTCTCTCTCTCTCTCTCTCTCTCTC	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42090783	C C	CATATGTG others(19): Show CATATGTGTGTGTGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0003 a0010c0013t0003	a0010c0013t0003g0108 a0010c0013t0003g0108	1	108	0.0093	26	c.197 others(45): Show c.197-13722_197-13721insATATATATATATACACACACACATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	2/23			chr9	TogoVar
CNTNAP3_chr9_39059710_39293167	39226951	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0003 a0004c0002t0001g0003	1	4	0.2500	26	c.390 others(45): Show c.390+12041_390+12042insGTATATATATATATATATATATATAT	CNTNAP3	ENSG00000106714.18	transcript	ENST00000297668.11	protein_coding	3/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18998.hp1 NA19063.hp1 NA18962.hp2 NA18998.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0149 a0002c0002t0004g0252 a0002c0002t0004g0253 a0001c0001t0001g0149 a0002c0002t0004g0252 a0002c0002t0004g0253	3	274	0.0110	26	c.133 others(45): Show c.1334-1182_1334-1181insAAAAAAAAAATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0027 a0027	a0027c0040 a0027c0040	a0027c0040t0001 a0027c0040t0001	a0027c0040t0001g0267 a0027c0040t0001g0267	1	274	0.0037	26	c.133 others(45): Show c.1334-1182_1334-1181insAAAAAAAATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124057448	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA20129.hp2 HG03704.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0048 a0001c0001t0006g0025 a0001c0001t0002g0048 a0001c0001t0006g0025	2	64	0.0313	26	c.82+ others(43): Show c.82+31739_82+31740insTTTTTTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124431547	T T	TATTATAT others(19): Show TATTATATATAATTTCTTTATATAAAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp2 HG01070.hp2 others(18): Show HG00423.hp1 HG01069.hp2 HG01070.hp2 HG01261.hp2 HG01891.hp1 HG02145.hp1 HG02293.hp1 HG02698.hp1 HG02698.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 NA19000.hp2 NA19043.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0004c0006 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0002t0019 a0002c0004t0001 a0004c0006t0001 a0005c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0033 others(18): Show a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0001t0003g0057 a0001c0001t0004g0052 a0001c0001t0007g0039 a0001c0001t0009g0061 a0001c0001t0014g0037 a0001c0001t0015g0036 a0001c0001t0017g0012 a0001c0001t0018g0021 a0001c0002t0019g0051 a0002c0004t0001g0001 a0004c0006t0001g0013 a0005c0005t0001g0008	21	64	0.3281	26	c.530 others(43): Show c.530-2833_530-2808dupCATTATATATAATTTCTTTATATAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124485631	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03098.hp2 NA19000.hp1 others(1): Show HG02451.hp2 HG03098.hp2 NA19000.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011	a0001c0002t0001g0007 a0001c0002t0002g0034 a0001c0002t0006g0028 others(1): Show a0001c0002t0001g0007 a0001c0002t0002g0034 a0001c0002t0006g0028 a0001c0002t0011g0029	4	64	0.0625	26	c.106 others(47): Show c.1062+10752_1062+10753insAAAAAAAAAAAAAAAAGAAGAAGA AA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43644787	C C	CAGAGAGA others(19): Show CAGAGAGACAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	384	0.0026	26	c.264 others(41): Show c.264+463_264+464insCTCTCTCTCTCTCTCTCTGTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644817	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA19084.hp2 HG02293.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0371 a0001c0001t0001g0369 a0001c0001t0001g0371	2	384	0.0052	26	c.264 others(41): Show c.264+433_264+434insGTCTCTCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG02056.hp2 others(5): Show HG00642.hp2 HG01109.hp1 HG02056.hp2 HG02738.hp1 HG03490.hp1 NA19079.hp1 NA19088.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0063 a0001c0001t0001g0064 others(5): Show a0001c0001t0001g0032 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0090 a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0242	8	384	0.0208	26	c.-38 others(45): Show c.-38-15477_-38-15452dupCTCTCTCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43710375	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0363 a0001c0001t0001g0363	1	384	0.0026	26	c.-39 others(45): Show c.-39+19053_-39+19054insATATATATATATATATATATATTTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234383064	G G	GAGGGAGG others(19): Show GAGGGAGGGAGGGAGGGAAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	406	0.0025	26	c.373 others(41): Show c.373-654_373-653insGGGAGGGAGGGAAGGAAGGGAAGGGA	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COBLL1_chr2_164675188_164846823	164725101	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	212	0.0047	26	c.662 others(43): Show c.662-2605_662-2580dupATATATATATATATATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	5/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51070392	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00642.hp1 others(7): Show HG00140.hp1 HG00408.hp2 HG00642.hp1 HG00733.hp1 HG01934.hp1 HG02257.hp2 HG06807.hp1 NA18747.hp2 NA18951.hp2 NA18963.hp2	a0001 a0003 a0008 others(3): Show a0001 a0003 a0008 a0009 a0013 a0027	a0001c0004 a0003c0001 a0008c0013 others(3): Show a0001c0004 a0003c0001 a0008c0013 a0009c0012 a0013c0017 a0027c0045	a0001c0004t0001 a0003c0001t0001 a0008c0013t0003 others(3): Show a0001c0004t0001 a0003c0001t0001 a0008c0013t0003 a0009c0012t0001 a0013c0017t0001 a0027c0045t0003	a0001c0004t0001g0219 a0003c0001t0001g0030 a0003c0001t0001g0034 others(7): Show a0001c0004t0001g0219 a0003c0001t0001g0030 a0003c0001t0001g0034 a0003c0001t0001g0199 a0003c0001t0001g0202 a0008c0013t0003g0207 a0008c0013t0003g0221 a0009c0012t0001g0189 a0013c0017t0001g0151 a0027c0045t0003g0026	10	230	0.0435	26	c.109 others(47): Show c.1096+14748_1096+14773dupGTGTGTGTGTGTGTGTGTGTGTGT GT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 HG02622.hp2 others(3): Show HG01433.hp2 HG02145.hp1 HG02622.hp2 HG02723.hp1 NA18747.hp1 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0015	a0001c0015 a0002c0003 a0003c0001 others(2): Show a0001c0015 a0002c0003 a0003c0001 a0005c0006 a0015c0027	a0001c0015t0014 a0002c0003t0001 a0003c0001t0005 others(2): Show a0001c0015t0014 a0002c0003t0001 a0003c0001t0005 a0005c0006t0003 a0015c0027t0009	a0001c0015t0014g0013 a0002c0003t0001g0067 a0003c0001t0005g0099 others(3): Show a0001c0015t0014g0013 a0002c0003t0001g0067 a0003c0001t0005g0099 a0005c0006t0003g0121 a0015c0027t0009g0075 a0015c0027t0009g0165	6	230	0.0261	26	c.958 others(45): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COG3_chr13_45459939_45541701	45513345	T T	TTATATAT others(19): Show TTATATATAATATATACATATAAATTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0192 a0002c0005t0003g0192	1	342	0.0029	26	c.180 others(45): Show c.1809+1494_1809+1519dupTATATAATATATACATATAAATTATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45513562	A A	ATATATAC others(19): Show ATATATACATATAAATTATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG02965.hp2 HG00639.hp1 HG01243.hp1 HG02965.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0004 a0002c0005t0003g0155 a0002c0005t0003g0004 a0002c0005t0003g0155	3	342	0.0088	26	c.180 others(45): Show c.1809+1708_1809+1709insTATATACATATAAATTATATATATAT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22			chr13	TogoVar
COL11A1_chr1_102871473_103113522	102878475	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0093 a0004c0007t0001g0093	1	184	0.0054	26	c.527 others(43): Show c.5275-336_5275-311dupATATATATATATATATATATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	66/66			chr1	TogoVar
COL12A1_chr6_75079326_75211053	75208154	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 NA18995.hp2 HG03540.hp1 NA18995.hp2	a0001 a0016 a0001 a0016	a0001c0005 a0016c0044 a0001c0005 a0016c0044	a0001c0005t0001 a0016c0044t0015 a0001c0005t0001 a0016c0044t0015	a0001c0005t0001g0075 a0016c0044t0015g0135 a0001c0005t0001g0075 a0016c0044t0015g0135	2	206	0.0097	26	c.-24 others(37): Show c.-2414_-2413insAAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2102		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208156	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0005 a0009c0010t0005	a0009c0010t0005g0045 a0009c0010t0005g0045	1	206	0.0049	26	c.-24 others(37): Show c.-2416_-2415insAAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2104		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208158	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 NA18946.hp2 NA20752.hp1 HG02698.hp1 NA18946.hp2 NA20752.hp1	a0002 a0015 a0002 a0015	a0002c0002 a0015c0042 a0002c0002 a0015c0042	a0002c0002t0001 a0015c0042t0002 a0002c0002t0001 a0015c0042t0002	a0002c0002t0001g0021 a0002c0002t0001g0112 a0015c0042t0002g0094 a0002c0002t0001g0021 a0002c0002t0001g0112 a0015c0042t0002g0094	3	206	0.0146	26	c.-24 others(37): Show c.-2418_-2417insAAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2106		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208160	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01496.hp1 HG00621.hp2 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0088 a0002c0002t0001g0079 a0002c0002t0001g0088	2	206	0.0097	26	c.-24 others(37): Show c.-2420_-2419insAAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2108		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208162	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	206	0.0049	26	c.-24 others(37): Show c.-2422_-2421insAAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2110		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208164	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0143 a0001c0005t0002g0143	1	206	0.0049	26	c.-24 others(37): Show c.-2424_-2423insAAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2112		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGACACAGAGAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	324	0.0031	26	c.294 others(43): Show c.294+7664_294+7665insGAGAGAGAGAGACACAGAGACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120128232	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	218	0.0046	26	c.-38 others(43): Show c.-38+2909_-38+2910insCGCGCGCGCGTGTGTGTGTGTGTGTG	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120173589	T T	TCTATCTA others(19): Show TCTATCTATCTATCTATCTATCTATCA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0122 a0001c0003t0002g0122	1	218	0.0046	26	c.436 others(43): Show c.436+5342_436+5343insCTATCTATCTATCTATCTATCTATCA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	5/47			chr8	TogoVar
COL14A1_chr8_120120102_120378573	120200048	A A	AGCATATA others(19): Show AGCATATATATATGCATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0174 a0001c0003t0001g0174	1	218	0.0046	26	c.877 others(41): Show c.877+494_877+495insGCATATATATATATGCATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar

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