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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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
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	230	0.0044	36	c.-76 others(55): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23	INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40924881	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0183 a0001c0001t0009g0183	1	230	0.0044	36	c.496 others(51): Show c.496+246_496+247insTATATATATATATATATATATATATATATA TATATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	6/23	INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40925579	G G	GTATATAT others(29): Show GTATATATACGTGTATATATATATATACGTGTATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0066 a0001c0003t0003g0066	1	230	0.0044	36	c.496 others(51): Show c.496+936_496+937insGTGTATATATATATATACGTGTATATATAT ATATAC	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	6/23	INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40925589	A A	ATGTATAT others(29): Show ATGTATATATATATATACGTGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18959.hp2 NA19043.hp1 others(1): Show HG00280.hp1 NA18959.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0020 a0001c0003t0003 a0001c0003t0005 a0001c0003t0020	a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0005g0178 others(1): Show a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0005g0178 a0001c0003t0020g0165	4	230	0.0174	36	c.496 others(51): Show c.496+972_496+973insGTGTATATATATATATACGTGTATATATAT ATATAC	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	6/23	INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN3_chr3_74257568_74619659	74366780	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0153 a0001c0001t0006g0153	1	174	0.0058	36	c.947 others(53): Show c.947-1079_947-1078insTATATATATATATATATATATATATATA TATATATA	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	8/22		chr3	TogoVar
CNTN4_chr3_2093866_3062959	2120405	A A	AAATATAT others(29): Show AAATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0016 a0002c0014t0001g0016	1	116	0.0086	36	c.-14 others(57): Show c.-145+19766_-145+19767insAATATATATATATATATATATATA TTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340704	T T	TAGAGAGA others(29): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	116	0.0086	36	c.-89 others(53): Show c.-89+1472_-89+1473insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GGGGGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340708	T T	TAGAGAGA others(29): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	116	0.0086	36	c.-89 others(53): Show c.-89+1476_-89+1477insGAGAGAGAGAGAGAGAGAGAGAGAGAGG GGGAGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TATATATA others(29): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0111 a0004c0011t0003g0111	1	116	0.0086	36	c.-89 others(53): Show c.-89+1478_-89+1479insTATATATATATAGAGAGAGAGAGAGAGA GAGAGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TATATATA others(29): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	116	0.0086	36	c.-89 others(53): Show c.-89+1478_-89+1479insTATATATATATATATATAGAGAGAGAGA GAGAGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TATATATA others(29): Show TATATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	116	0.0086	36	c.-89 others(53): Show c.-89+1478_-89+1479insTATATATATATATATATATATAGAGAGA GAGAGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2481033	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0084 a0003c0008t0001g0084	1	116	0.0086	36	c.-88 others(55): Show c.-88-90354_-88-90353insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2481055	T T	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0018 a0001c0001t0005g0019	2	116	0.0172	36	c.-88 others(55): Show c.-88-90354_-88-90353insTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTTTCT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2815873	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp2 HG03516.hp1 HG02451.hp1 HG03453.hp2 HG03516.hp1	a0001 a0009 a0001 a0009	a0001c0005 a0001c0006 a0009c0027 a0001c0005 a0001c0006 a0009c0027	a0001c0005t0001 a0001c0006t0002 a0009c0027t0001 a0001c0005t0001 a0001c0006t0002 a0009c0027t0001	a0001c0005t0001g0090 a0001c0006t0002g0060 a0009c0027t0001g0007 a0001c0005t0001g0090 a0001c0006t0002g0060 a0009c0027t0001g0007	3	116	0.0259	36	c.359 others(53): Show c.359-3595_359-3594insATATATATATATATATATATATATATAT ATATATAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99201377	T T	TCCTTCCT others(29): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02004.hp1 HG02132.hp1 others(1): Show HG01496.hp2 HG02004.hp1 HG02132.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0002c0002t0008	a0001c0001t0001g0054 a0001c0001t0012g0018 a0001c0001t0016g0049 others(1): Show a0001c0001t0001g0054 a0001c0001t0012g0018 a0001c0001t0016g0049 a0002c0002t0008g0019	4	66	0.0606	36	c.-20 others(59): Show c.-209-123964_-209-123963insCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTCCCTTC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24	INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99408448	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0002	1	66	0.0152	36	c.-71 others(55): Show c.-71+82965_-71+82966insAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24	INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99408448	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0013 a0002c0002t0022g0013	1	66	0.0152	36	c.-71 others(55): Show c.-71+82965_-71+82966insAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24	INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99475003	C C	CTAGACCA others(29): Show CTAGACCATGTAAGATCCACCCTCATGAATGTGGGAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp1 HG02965.hp1 HG03041.hp1	a0006 a0009 a0006 a0009	a0006c0006 a0009c0012 a0006c0006 a0009c0012	a0006c0006t0011 a0009c0012t0008 a0006c0006t0011 a0009c0012t0008	a0006c0006t0011g0033 a0009c0012t0008g0026 a0006c0006t0011g0033 a0009c0012t0008g0026	2	66	0.0303	36	c.-70 others(55): Show c.-70-81010_-70-80975dupATGAATGTGGGATTAGACCATGTAAG ATCCACCCTC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24	INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99941571	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG02258.hp2 others(1): Show HG01081.hp1 HG01243.hp1 HG02258.hp2 HG02723.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0004 a0005c0005t0003 others(1): Show a0001c0001t0001 a0002c0002t0004 a0005c0005t0003 a0005c0005t0018	a0001c0001t0001g0008 a0002c0002t0004g0039 a0005c0005t0003g0045 others(1): Show a0001c0001t0001g0008 a0002c0002t0004g0039 a0005c0005t0003g0045 a0005c0005t0018g0028	4	66	0.0606	36	c.674 others(55): Show c.674-15220_674-15219insCACACACACACACACACACACACACA CACACACACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	7/24	INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100090499	T T	TTTCCTCC others(29): Show TTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18957.hp1 NA19000.hp2 HG00733.hp2 NA18957.hp1 NA19000.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0022 a0004c0004t0002 a0001c0001t0001 a0002c0002t0022 a0004c0004t0002	a0001c0001t0001g0052 a0002c0002t0022g0013 a0004c0004t0002g0001 a0001c0001t0001g0052 a0002c0002t0022g0013 a0004c0004t0002g0001	3	66	0.0455	36	c.158 others(57): Show c.1580+16234_1580+16235insCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24	INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100090505	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02004.hp1 HG03041.hp1 others(3): Show HG00735.hp1 HG02004.hp1 HG03041.hp1 HG03471.hp1 NA18939.hp1 NA19070.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0009	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0008c0008 a0009c0012	a0001c0001t0001 a0002c0002t0001 a0003c0003t0017 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0017 a0006c0006t0009 a0008c0008t0007 a0009c0012t0008	a0001c0001t0001g0054 a0002c0002t0001g0003 a0003c0003t0017g0065 others(3): Show a0001c0001t0001g0054 a0002c0002t0001g0003 a0003c0003t0017g0065 a0006c0006t0009g0042 a0008c0008t0007g0038 a0009c0012t0008g0026	6	66	0.0909	36	c.158 others(57): Show c.1580+16234_1580+16235insCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24	INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1245308	A A	AACATATA others(29): Show AACATATATATATAACATATATATAACATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0095 a0001c0001t0001g0096	2	232	0.0086	36	c.358 others(55): Show c.358+17315_358+17316insACATATATATATAACATATATATAAC ATATATATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146535136	T T	TATTATAT others(29): Show TATTATATATTATATATATTATATAATATATATTATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02630.hp2 others(3): Show HG01891.hp2 HG02451.hp1 HG02630.hp2 HG02896.hp1 HG02976.hp1 HG03139.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0015 a0005c0020	a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0008t0001 a0001c0015t0001 a0005c0020t0005	a0001c0001t0006g0009 a0001c0002t0001g0007 a0001c0002t0002g0013 others(3): Show a0001c0001t0006g0009 a0001c0002t0001g0007 a0001c0002t0002g0013 a0001c0008t0001g0025 a0001c0015t0001g0011 a0005c0020t0005g0016	6	40	0.1500	36	c.98- others(55): Show c.98-239135_98-239134insATTATATATTATATATATTATATAAT ATATATTATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146721889	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA21309.hp1 HG02976.hp1 NA21309.hp1	a0001 a0001	a0001c0010 a0001c0015 a0001c0010 a0001c0015	a0001c0010t0002 a0001c0015t0001 a0001c0010t0002 a0001c0015t0001	a0001c0010t0002g0014 a0001c0015t0001g0011 a0001c0010t0002g0014 a0001c0015t0001g0011	2	40	0.0500	36	c.98- others(53): Show c.98-52381_98-52380insATATATATATATATATATATTTTTTTTT TTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147586543	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0039 a0001c0013t0003g0039	1	40	0.0250	36	c.189 others(57): Show c.1897+24289_1897+24290insAAGGAAGGAAGGAAGGAAGGAAGG AAGGGAGGGAGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147635184	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0005 a0001c0005t0008g0005	1	40	0.0250	36	c.189 others(55): Show c.1898-3905_1898-3904insATATATATATATATATATATATATAT ATATATATAT	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(29): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	40	0.0250	36	c.225 others(57): Show c.2255+15741_2255+15742insCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147949440	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0017 a0003c0007t0017	a0003c0007t0017g0031 a0003c0007t0017g0031	1	40	0.0250	36	c.225 others(57): Show c.2256-28403_2256-28402insATATATATATATATATATATATAT ATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148106493	G G	GATAGATA others(29): Show GATAGATAGATAGATAGATAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0002 a0001c0002t0010g0002	1	40	0.0250	36	c.238 others(57): Show c.2384-11622_2384-11621insGATAGATAGATAGATAGATATATA TATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148106493	G G	GATAGATA others(29): Show GATAGATAGATAGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0017 a0001c0003t0020g0017	1	40	0.0250	36	c.238 others(57): Show c.2384-11622_2384-11621insGATAGATAGATATATATATATATA TATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148136017	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0023 a0001c0006t0009 a0001c0003t0023 a0001c0006t0009	a0001c0003t0023g0030 a0001c0006t0009g0028 a0001c0003t0023g0030 a0001c0006t0009g0028	2	40	0.0500	36	c.255 others(57): Show c.2555-11471_2555-11470insAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAGGGAGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	16/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148253055	T T	TAGACAGA others(29): Show TAGACAGATGATAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18522.hp1 HG02886.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0013 a0001c0013t0003 a0001c0003t0013 a0001c0013t0003	a0001c0003t0013g0010 a0001c0013t0003g0039 a0001c0003t0013g0010 a0001c0013t0003g0039	2	40	0.0500	36	c.338 others(57): Show c.3382-13978_3382-13977insAGACAGATGATAGATAGATAGATA GATAGATAGATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	20/23		chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148301306	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	40	0.0250	36	c.347 others(57): Show c.3475+34197_3475+34198insTATATATATATATATATATATATA TATATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934112	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19086.hp1 NA18974.hp2 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0052 a0002c0002t0001g0053	2	108	0.0185	36	c.223 others(55): Show c.2237+4131_2237+4132insGTGTGTGTATATATATATATATATAT ATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23		chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42034186	G G	GTATCTAT others(29): Show GTATCTATCTATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0003 a0010c0013t0003	a0010c0013t0003g0103 a0010c0013t0003g0103	1	108	0.0093	36	c.391 others(55): Show c.391-20662_391-20661insGATAGATAGATAGATAGATAGATAGA TAGATAGATA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23		chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42090783	C C	CATATGTG others(29): Show CATATGTGTGTGTGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03704.hp2 HG00099.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0031 a0001c0001t0003 a0001c0001t0031	a0001c0001t0003g0093 a0001c0001t0031g0098 a0001c0001t0003g0093 a0001c0001t0031g0098	2	108	0.0185	36	c.197 others(55): Show c.197-13722_197-13721insATATATATATATATATATATATACAC ACACACATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	2/23		chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 NA19010.hp2 HG01257.hp2 HG01258.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0123 a0002c0002t0002g0145 a0002c0002t0002g0157 a0001c0001t0001g0123 a0002c0002t0002g0145 a0002c0002t0002g0157	3	274	0.0110	36	c.133 others(55): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAAAAAATATATATA TATATATATA	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(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	274	0.0037	36	c.133 others(55): Show c.1334-1182_1334-1181insAAAAAAAAAAAATATATATATATATA TATATATATA	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(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18991.hp1 HG00597.hp2 NA18991.hp1	a0001 a0022 a0001 a0022	a0001c0001 a0022c0025 a0001c0001 a0022c0025	a0001c0001t0001 a0022c0025t0002 a0001c0001t0001 a0022c0025t0002	a0001c0001t0001g0174 a0022c0025t0002g0110 a0001c0001t0001g0174 a0022c0025t0002g0110	2	274	0.0073	36	c.133 others(55): Show c.1334-1182_1334-1181insAAAAAAAAAATATATATATATATATA TATATATATA	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(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0153 a0002c0002t0004g0153	1	274	0.0037	36	c.133 others(55): Show c.1334-1182_1334-1181insAAAAAAAATATATATATATATATATA TATATATATA	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(29): Show AAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0150 a0002c0002t0004g0150	1	274	0.0037	36	c.133 others(55): Show c.1334-1182_1334-1181insAAAAAATATATATATATATATATATA TATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23	INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124655945	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0029 a0001c0002t0011g0029	1	64	0.0156	36	c.207 others(55): Show c.2077+8005_2077+8040dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655998	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	64	0.0156	36	c.207 others(55): Show c.2077+8040_2077+8041insGAAAGAAAGAAAGAAAGAAAGAAAGA AGGAAGGAAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706746	C C	CAAGAAGA others(29): Show CAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	64	0.0156	36	c.207 others(57): Show c.2078-40467_2078-40432dupAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43644740	A A	AGATAGAT others(29): Show AGATAGATAGATAGATAGATAGATAGATAGATGGATG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19056.hp2 NA18946.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0264 a0001c0001t0001g0266	2	384	0.0052	36	c.264 others(51): Show c.264+510_264+511insCATCCATCTATCTATCTATCTATCTATCTA TCTATC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5		chr7	TogoVar
COG3_chr13_45459939_45541701	45486339	C C	CGGGAGAG others(29): Show CGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19030.hp2 HG03491.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0239 a0001c0001t0001g0090 a0001c0001t0001g0239	2	342	0.0059	36	c.844 others(51): Show c.844-126_844-125insGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22	INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATTTAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	370	0.0027	36	c.128 others(55): Show c.1284+6660_1284+6661insATATATATTTAAATATATATATATAT ATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18	INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39730773	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0169 a0001c0001t0014g0169	1	370	0.0027	36	c.182 others(55): Show c.1826+3251_1826+3252insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18	INFO_REALIGN_3_PRIME	chr13	TogoVar
COL11A1_chr1_102871473_103113522	103042974	G G	GTGAAATA others(29): Show GTGAAATATATATGATATATTAAATACATCATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01256.hp1 HG01358.hp2 others(11): Show HG01081.hp2 HG01256.hp1 HG01358.hp2 HG02145.hp2 HG03209.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp1 NA18939.hp1 NA18984.hp1 NA19057.hp1 NA19063.hp2 NA19082.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0001c0019 a0004c0007 others(3): Show a0001c0004 a0001c0019 a0004c0007 a0004c0013 a0004c0014 a0004c0021	a0001c0004t0004 a0001c0019t0003 a0004c0007t0001 others(3): Show a0001c0004t0004 a0001c0019t0003 a0004c0007t0001 a0004c0013t0001 a0004c0014t0003 a0004c0021t0008	a0001c0004t0004g0018 a0001c0019t0003g0051 a0001c0019t0003g0054 others(11): Show a0001c0004t0004g0018 a0001c0019t0003g0051 a0001c0019t0003g0054 a0004c0007t0001g0089 a0004c0007t0001g0090 a0004c0007t0001g0092 a0004c0007t0001g0093 a0004c0007t0001g0094 a0004c0007t0001g0115 a0004c0013t0001g0096 a0004c0013t0001g0106 a0004c0013t0001g0107 a0004c0014t0003g0059 a0004c0021t0008g0081	14	184	0.0761	36	c.652 others(55): Show c.652-11731_652-11730insTATATATGATGTATTTAATATATCAT ATATATTTCA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66		chr1	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGACACAGAGAC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA20129.hp2 NA18992.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0139 a0001c0003t0001g0082 a0001c0001t0001g0139 a0001c0003t0001g0082	2	324	0.0062	36	c.294 others(53): Show c.294+7664_294+7665insGAGAGAGAGAGAGAGAGAGAGACACAGA GACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40	INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 8848 hits)