Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
CNST_chr1_246561456_246673595	246583157	T T	TTTGGTGG others(23): Show TTTGGTGGTTATGAGTGCTTTCATTCCTTCC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	320	0.0031	30	c.-51 others(47): Show c.-51-8353_-51-8324dupTGGTGGTTATGAGTGCTTTCATTCCTTC CT	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTLN_chr9_17130040_17508923	17312349	A A	ATATATAT others(23): Show ATATATATATATATATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0003 a0022c0024t0003	a0022c0024t0003g0024 a0022c0024t0003g0024	1	218	0.0046	30	c.134 others(49): Show c.1341+3098_1341+3127dupTATATATATATATATTATATATATAT ATAT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18961.hp1 NA19010.hp2 HG00733.hp1 NA18961.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0111 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0111	3	230	0.0130	30	c.-76 others(49): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	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(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01123.hp2 HG01256.hp2 others(9): Show HG00408.hp1 HG01123.hp2 HG01256.hp2 HG02622.hp1 HG02895.hp1 HG03239.hp1 NA18522.hp2 NA18747.hp1 NA18943.hp1 NA18957.hp2 NA18959.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0005t0002	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0101 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0101 a0001c0001t0002g0011 a0001c0001t0002g0027 a0001c0001t0002g0096 a0001c0001t0002g0175 a0001c0001t0012g0125 a0001c0001t0013g0133 a0001c0002t0001g0025 a0001c0005t0002g0081 a0001c0005t0002g0173	12	230	0.0522	30	c.496 others(45): Show c.496+246_496+247insTATATATATATATATATATATATATATATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN3_chr3_74257568_74619659	74355212	A A	ACAACTTT others(23): Show ACAACTTTCACTTTAACTAATTTCTTATAAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0158 a0002c0005t0005g0158	1	174	0.0058	30	c.136 others(49): Show c.1364+6677_1364+6678insATTATAAGAAATTAGTTAAAGTGAAA GTTG	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	11/22			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2120351	T T	TTATATAT others(23): Show TTATATATATATATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0087 a0001c0002t0007g0087	1	116	0.0086	30	c.-14 others(51): Show c.-145+19732_-145+19733insAATATATATATATATATATATATA TATATA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340705	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGGGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03209.hp2 HG02165.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0011 a0001c0005t0006 a0001c0003t0011 a0001c0005t0006	a0001c0003t0011g0113 a0001c0005t0006g0032 a0001c0003t0011g0113 a0001c0005t0006g0032	2	116	0.0172	30	c.-89 others(47): Show c.-89+1472_-89+1473insGAGAGAGAGAGAGAGAGAGAGAGAGAGG GG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340706	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01978.hp2 HG01884.hp1 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0025 a0001c0003 a0001c0025	a0001c0003t0002 a0001c0025t0001 a0001c0003t0002 a0001c0025t0001	a0001c0003t0002g0073 a0001c0025t0001g0100 a0001c0003t0002g0073 a0001c0025t0001g0100	2	116	0.0172	30	c.-89 others(47): Show c.-89+1474_-89+1475insGAGAGAGAGAGAGAGAGAGAGAGAGGGG GA	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(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp2 HG02451.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0006 a0001c0002t0001 a0001c0004t0006	a0001c0002t0001g0108 a0001c0004t0006g0068 a0001c0002t0001g0108 a0001c0004t0006g0068	2	116	0.0172	30	c.-89 others(47): Show c.-89+1476_-89+1477insGAGAGAGAGAGAGAGAGAGAGAGGGGGA GA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0034 a0001c0007t0003g0034	1	116	0.0086	30	c.-89 others(47): Show c.-89+1501_-89+1502insGGGGAGAGAGAGAGAGAGAGAGAGAGAG AG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0001 a0001c0005t0010g0001	1	116	0.0086	30	c.-89 others(47): Show c.-89+1499_-89+1500insGGGGAGAGAGAGAGAGAGAGAGAGAGAG AG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TATAGAGA others(23): Show TATAGAGAGAGAGAGAGAGAGAGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0010 a0001c0005t0006g0010	1	116	0.0086	30	c.-89 others(47): Show c.-89+1478_-89+1479insTAGAGAGAGAGAGAGAGAGAGGGGGAGA GA	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(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02622.hp2 HG02683.hp1 others(1): Show HG00735.hp1 HG02622.hp2 HG02683.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0003c0008	a0001c0002t0002 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0002t0002 a0001c0004t0001 a0001c0005t0001 a0003c0008t0001	a0001c0002t0002g0063 a0001c0004t0001g0036 a0001c0005t0001g0090 others(1): Show a0001c0002t0002g0063 a0001c0004t0001g0036 a0001c0005t0001g0090 a0003c0008t0001g0084	4	116	0.0345	30	c.-89 others(47): Show c.-89+1478_-89+1479insTATATATATATATAGAGAGAGAGAGAGA GA	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(23): Show TATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	116	0.0086	30	c.-89 others(47): Show c.-89+1478_-89+1479insTATATATATATATATAGAGAGAGAGAGA GA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2481067	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTCTCTTTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0107 a0001c0003t0002g0107	1	116	0.0086	30	c.-88 others(49): Show c.-88-90346_-88-90345insTTCTTTCTTTCTCTCTTTCTCTCTTT CTCT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2520259	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0007 a0001c0013t0007	a0001c0013t0007g0056 a0001c0013t0007g0056	1	116	0.0086	30	c.-88 others(49): Show c.-88-51155_-88-51126dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2607610	C C	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02738.hp1 HG02486.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0008 a0001c0002t0001g0038 a0001c0001t0003g0008 a0001c0002t0001g0038	2	116	0.0172	30	c.55+ others(47): Show c.55+36068_55+36069insCACACACACACACACACACACACACACA CA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2815873	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18906.hp2 HG03471.hp2 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0012 a0001c0002 a0005c0012	a0001c0002t0001 a0005c0012t0009 a0001c0002t0001 a0005c0012t0009	a0001c0002t0001g0021 a0005c0012t0009g0093 a0001c0002t0001g0021 a0005c0012t0009g0093	2	116	0.0172	30	c.359 others(47): Show c.359-3595_359-3594insATATATATATATATATATATATATATAT AT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99432458	T T	TTCTTTTC others(23): Show TTCTTTTCTTTCCTTTTCTTTTCTTTTCTTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp2 HG02109.hp1 NA18522.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0007 a0005c0005t0010 a0003c0003t0007 a0005c0005t0010	a0003c0003t0007g0057 a0005c0005t0010g0006 a0003c0003t0007g0057 a0005c0005t0010g0006	2	66	0.0303	30	c.-71 others(51): Show c.-71+106979_-71+106980insTCTTTCCTTTTCTTTTCTTTTCTT GTCTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99727312	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	66	0.0152	30	c.56- others(47): Show c.56-92210_56-92209insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99941567	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0055 a0002c0002t0021g0055	1	66	0.0152	30	c.674 others(49): Show c.674-15236_674-15235insCACACACACACACACACACACACACA CACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99941571	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp1 HG02895.hp1 HG03041.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0012 a0002c0002 a0009c0012	a0002c0002t0005 a0009c0012t0008 a0002c0002t0005 a0009c0012t0008	a0002c0002t0005g0015 a0009c0012t0008g0026 a0002c0002t0005g0015 a0009c0012t0008g0026	2	66	0.0303	30	c.674 others(49): Show c.674-15220_674-15219insCACACACACACACACACACACACACA CACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100060991	T T	TTAATTGC others(23): Show TTAATTGCTTTCCTGAAATACGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01081.hp1 others(32): Show HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01934.hp2 HG02004.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02258.hp2 HG02602.hp2 HG02723.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp1 HG03471.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA19000.hp1 NA19043.hp2 NA19070.hp1 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0012	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0008c0008 a0009c0012 a0012c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0003c0003t0002 a0003c0003t0007 a0003c0003t0017 a0004c0004t0002 a0005c0005t0001 a0005c0005t0003 a0005c0005t0018 a0006c0006t0009 a0006c0006t0013 a0006c0006t0014 a0008c0008t0007 a0009c0012t0008 a0012c0013t0008	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0003g0021 others(32): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0060 a0001c0001t0004g0010 a0001c0001t0004g0029 a0001c0001t0004g0044 a0001c0001t0005g0014 a0001c0001t0010g0023 a0001c0001t0010g0047 a0001c0001t0016g0049 a0002c0002t0001g0003 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0004g0007 a0002c0002t0004g0039 a0002c0002t0008g0019 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0027 a0003c0003t0007g0034 a0003c0003t0007g0057 a0003c0003t0017g0065 a0004c0004t0002g0051 a0005c0005t0001g0017 a0005c0005t0001g0035 a0005c0005t0003g0045 a0005c0005t0018g0028 a0006c0006t0009g0042 a0006c0006t0013g0025 a0006c0006t0014g0058 a0008c0008t0007g0038 a0009c0012t0008g0026 a0012c0013t0008g0031	35	66	0.5303	30	c.981 others(45): Show c.981-202_981-201insCGAAAGAAAAGTAATTGCTTTCCTGAAATA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1098789	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	232	0.0043	30	c.-83 others(47): Show c.-83+5698_-83+5699insTATATATATATATATATATATATATATA TA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1119322	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0223 a0001c0006t0001g0223	1	232	0.0043	30	c.-83 others(49): Show c.-83+26204_-83+26233dupTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1160344	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01361.hp1 HG01099.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0152 a0001c0008t0001g0167 a0001c0001t0001g0152 a0001c0008t0001g0167	2	232	0.0086	30	c.55+ others(47): Show c.55+12305_55+12306insTATATATATATATATATATATATATATA TA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1160344	G G	GTATGTAT others(23): Show GTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0110 a0001c0004t0005g0110	1	232	0.0043	30	c.55+ others(47): Show c.55+12284_55+12285insGTATATATATATATATATATATATATAT AT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1160365	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp1 HG01884.hp2 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0007t0001 a0001c0005t0001 a0001c0007t0001	a0001c0005t0001g0188 a0001c0007t0001g0133 a0001c0005t0001g0188 a0001c0007t0001g0133	2	232	0.0086	30	c.55+ others(47): Show c.55+12305_55+12306insTATATATATATATATATATATATATACA TA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245219	T T	TATATATA others(23): Show TATATATAACATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	232	0.0043	30	c.358 others(49): Show c.358+17233_358+17234insACATATATATATATATATATAACATA TATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP1_chr17_42677531_42704993	42680626	G G	GTCAAATG others(23): Show GTCAAATGAGAGGCGGGATCTTATGAGACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	364	0.0028	30	c.-22 others(41): Show c.-2204_-2203insTCAAATGAGAGGCGGGATCTTATGAGACAC	CNTNAP1	ENSG00000108797.12	transcript	ENST00000264638.9	protein_coding		1904		chr17	TogoVar
CNTNAP2_chr7_146111801_148425998	146502226	T T	TATATATG others(23): Show TATATATGTGTGTATATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG02486.hp1 others(1): Show HG00735.hp2 HG01891.hp1 HG02486.hp1 HG02630.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0012 a0001c0019 others(1): Show a0001c0001 a0001c0012 a0001c0019 a0004c0014	a0001c0001t0007 a0001c0012t0004 a0001c0019t0006 others(1): Show a0001c0001t0007 a0001c0012t0004 a0001c0019t0006 a0004c0014t0021	a0001c0001t0007g0020 a0001c0012t0004g0026 a0001c0019t0006g0015 others(1): Show a0001c0001t0007g0020 a0001c0012t0004g0026 a0001c0019t0006g0015 a0004c0014t0021g0022	4	40	0.1000	30	c.98- others(49): Show c.98-272039_98-272038insGTGTGTATATATATATATATATGAAT ATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146502228	T T	TATATGTG others(23): Show TATATGTGTGTATATATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0015 a0002c0017t0015	a0002c0017t0015g0037 a0002c0017t0015g0037	1	40	0.0250	30	c.98- others(49): Show c.98-272039_98-272038insGTGTGTATATATATATATATATATGA ATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146535365	G G	GTATATTA others(23): Show GTATATTATATATGATATAATATATGATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0015 a0002c0017t0015	a0002c0017t0015g0037 a0002c0017t0015g0037	1	40	0.0250	30	c.98- others(49): Show c.98-238864_98-238835dupTGATATAATATATGATATATATATTA TATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147421585	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0003g0035 a0001c0004t0003g0036	2	40	0.0500	30	c.167 others(51): Show c.1670+25834_1670+25835insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	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(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA21309.hp1 HG02896.hp2 HG02897.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0003 a0001c0010t0002 a0001c0004t0003 a0001c0010t0002	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0010t0002g0014 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0010t0002g0014	3	40	0.0750	30	c.177 others(51): Show c.1777+24830_1777+24831insTATATATATATATATATATATATA TATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147583512	A A	ATATATAT others(23): Show ATATATATATATACATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	40	0.0250	30	c.189 others(51): Show c.1897+21267_1897+21268insCATATATATATATATATGTATATA TATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147802794	G G	GGGGAGAG others(23): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	30	c.209 others(53): Show c.2099-100763_2099-100734dupGGAGAGGGAGAGGGAGAGGGAG AGGGAGAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147919459	C C	CTTTCTTT others(23): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp1 HG03540.hp2 others(1): Show HG02717.hp1 HG03225.hp1 HG03540.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0001c0009 others(1): Show a0001c0003 a0001c0006 a0001c0009 a0002c0017	a0001c0003t0004 a0001c0006t0009 a0001c0009t0019 others(1): Show a0001c0003t0004 a0001c0006t0009 a0001c0009t0019 a0002c0017t0015	a0001c0003t0004g0029 a0001c0006t0009g0028 a0001c0009t0019g0027 others(1): Show a0001c0003t0004g0029 a0001c0006t0009g0028 a0001c0009t0019g0027 a0002c0017t0015g0037	4	40	0.1000	30	c.225 others(51): Show c.2255+15741_2255+15742insCTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934122	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0024 a0024	a0024c0029 a0024c0029	a0024c0029t0006 a0024c0029t0006	a0024c0029t0006g0087 a0024c0029t0006g0087	1	108	0.0093	30	c.223 others(49): Show c.2237+4121_2237+4122insGTGTATATATATATATATATATATAT ATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934122	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0019 a0019	a0019c0031 a0019c0031	a0019c0031t0028 a0019c0031t0028	a0019c0031t0028g0088 a0019c0031t0028g0088	1	108	0.0093	30	c.223 others(49): Show c.2237+4121_2237+4122insGTATATATATATATATATATATATAT ATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42090783	C C	CATATGTG others(23): Show CATATGTGTGTGTGTGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0026 a0026	a0026c0025 a0026c0025	a0026c0025t0019 a0026c0025t0019	a0026c0025t0019g0028 a0026c0025t0019g0028	1	108	0.0093	30	c.197 others(49): Show c.197-13722_197-13721insATATATATATATATACACACACACAC ATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	2/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03209.hp2 HG00438.hp2 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0006 a0001c0001t0003 a0003c0003t0006	a0001c0001t0003g0118 a0003c0003t0006g0262 a0001c0001t0003g0118 a0003c0003t0006g0262	2	274	0.0073	30	c.133 others(49): Show c.1334-1182_1334-1181insAAAAAAAAAAAATATATATATATATA TATA	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(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	274	0.0037	30	c.133 others(49): Show c.1334-1182_1334-1181insAAAAAAAAAATATATATATATATATA TATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAATATA others(23): Show AAAATATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0207 a0002c0002t0004g0207	1	274	0.0037	30	c.133 others(49): Show c.1334-1182_1334-1181insAATATATATACATATATATATATATA TATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470481	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0250 a0001c0001t0010g0250	1	274	0.0037	30	c.165 others(49): Show c.1655+2958_1655+2959insTATATATATATATATATATATATATA TATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23			chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470482	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 NA19062.hp2 others(1): Show HG00735.hp2 HG01192.hp2 NA19062.hp2 NA19091.hp1	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0005 a0006c0009 a0007c0013 a0002c0005 a0006c0009 a0007c0013	a0002c0005t0002 a0006c0009t0003 a0007c0013t0004 a0002c0005t0002 a0006c0009t0003 a0007c0013t0004	a0002c0005t0002g0187 a0002c0005t0002g0188 a0006c0009t0003g0031 others(1): Show a0002c0005t0002g0187 a0002c0005t0002g0188 a0006c0009t0003g0031 a0007c0013t0004g0035	4	274	0.0146	30	c.165 others(49): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470495	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0221 a0005c0008t0001g0221	1	274	0.0037	30	c.165 others(49): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TTTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522687	C C	CTTTCTTT others(23): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	274	0.0037	30	c.275 others(47): Show c.2755+493_2755+522dupTCTTTTCTTTTCTTTTCTTTTCTTTTCT TT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124703235	C C	CCTCCCTT others(23): Show CCTCCCTTTCTTTCTTCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG03139.hp1 others(1): Show HG01891.hp1 HG02257.hp2 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0017 a0001c0002t0002 others(1): Show a0001c0001t0005 a0001c0001t0017 a0001c0002t0002 a0001c0002t0005	a0001c0001t0005g0040 a0001c0001t0017g0012 a0001c0002t0002g0030 others(1): Show a0001c0001t0005g0040 a0001c0001t0017g0012 a0001c0002t0002g0030 a0001c0002t0005g0045	4	64	0.0625	30	c.207 others(51): Show c.2078-43969_2078-43968insTCCTTCTCCCTTTCTTTCTTCTTC CTTCCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706795	A A	AAGAAGAA others(23): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGAGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	64	0.0156	30	c.207 others(51): Show c.2078-40432_2078-40431insAAGAAGAAGAAGAAGAAGAAGAAG GAGGAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results