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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CNTN4_chr3_2093866_3062959	2798365	A A	ATATCTAT others(9): Show ATATCTATCTACCTATC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18990.hp1 HG03516.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0004g0042 a0001c0003t0001g0116 a0001c0001t0004g0042 a0001c0003t0001g0116	2	116	0.0172	16	c.359 others(35): Show c.359-21121_359-21120insTATCTATCTACCTATC	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2798365	A A	ATATCTAT others(9): Show ATATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00642.hp1 others(14): Show HG00140.hp1 HG00438.hp2 HG00642.hp1 HG01884.hp1 HG02074.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02523.hp1 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03041.hp1 HG03209.hp2 HG03486.hp1 HG04184.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0020 a0001c0023 a0001c0025 a0003c0008 a0003c0019 a0008c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0003t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0006 a0001c0005t0009 a0001c0007t0003 a0001c0009t0004 a0001c0020t0002 a0001c0023t0004 a0001c0025t0001 a0003c0008t0001 a0003c0019t0002 a0008c0026t0017	a0001c0001t0001g0033 a0001c0001t0001g0099 a0001c0001t0003g0058 others(14): Show a0001c0001t0001g0033 a0001c0001t0001g0099 a0001c0001t0003g0058 a0001c0001t0008g0089 a0001c0003t0001g0014 a0001c0004t0002g0048 a0001c0005t0001g0096 a0001c0005t0006g0032 a0001c0005t0009g0091 a0001c0007t0003g0034 a0001c0009t0004g0005 a0001c0020t0002g0082 a0001c0023t0004g0041 a0001c0025t0001g0100 a0003c0008t0001g0084 a0003c0019t0002g0031 a0008c0026t0017g0047	17	116	0.1466	16	c.359 others(35): Show c.359-21121_359-21120insTATCTATCTATCTATC	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2798397	C C	CTATCTAT others(9): Show CTATCTATCTATCTATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03927.hp2 HG02132.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0012 a0001c0002t0002g0035 a0001c0001t0001g0012 a0001c0002t0002g0035	2	116	0.0172	16	c.359 others(35): Show c.359-21076_359-21075insATATATCTATCTATCT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2834898	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0034 a0001c0007t0003g0034	1	116	0.0086	16	c.454 others(35): Show c.454+15326_454+15341dupTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2864740	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG00735.hp1 others(21): Show HG00438.hp2 HG00642.hp1 HG00735.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01978.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp2 HG02809.hp2 HG02886.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG04184.hp2 NA19043.hp1 NA20300.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0020 a0001c0023 a0001c0024 a0003c0019 a0006c0028	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(19): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0009 a0001c0006t0002 a0001c0010t0003 a0001c0020t0002 a0001c0023t0004 a0001c0024t0015 a0003c0019t0002 a0006c0028t0001	a0001c0001t0003g0095 a0001c0001t0004g0042 a0001c0001t0008g0053 others(21): Show a0001c0001t0003g0095 a0001c0001t0004g0042 a0001c0001t0008g0053 a0001c0002t0001g0110 a0001c0002t0002g0102 a0001c0002t0004g0017 a0001c0002t0005g0003 a0001c0002t0006g0071 a0001c0002t0007g0087 a0001c0003t0001g0014 a0001c0003t0001g0094 a0001c0003t0002g0073 a0001c0004t0001g0036 a0001c0004t0002g0048 a0001c0005t0001g0096 a0001c0005t0001g0104 a0001c0005t0009g0091 a0001c0006t0002g0051 a0001c0010t0003g0011 a0001c0020t0002g0082 a0001c0023t0004g0041 a0001c0024t0015g0057 a0003c0019t0002g0031 a0006c0028t0001g0023	24	116	0.2069	16	c.455 others(33): Show c.455-1997_455-1996insAAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2878553	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02451.hp2 HG00642.hp1 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0006 a0001c0005t0001 a0001c0004t0006 a0001c0005t0001	a0001c0004t0006g0068 a0001c0005t0001g0096 a0001c0004t0006g0068 a0001c0005t0001g0096	2	116	0.0172	16	c.653 others(33): Show c.653-4570_653-4555dupGTGTGTGTGTGTGTGT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2961231	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03471.hp2 HG02074.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0004 a0001c0002t0001 a0001c0009t0004	a0001c0002t0001g0021 a0001c0009t0004g0005 a0001c0002t0001g0021 a0001c0009t0004g0005	2	116	0.0172	16	c.135 others(37): Show c.1359-27110_1359-27095dupAAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2994594	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp1 HG00738.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0005 a0001c0025t0001 a0001c0001t0005 a0001c0025t0001	a0001c0001t0005g0054 a0001c0025t0001g0100 a0001c0001t0005g0054 a0001c0025t0001g0100	2	116	0.0172	16	c.148 others(35): Show c.1486+6127_1486+6142dupATATATATATATATAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99201351	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG06807.hp1 HG02109.hp1 HG02976.hp1 HG06807.hp1	a0003 a0005 a0006 a0003 a0005 a0006	a0003c0003 a0005c0005 a0006c0006 a0003c0003 a0005c0005 a0006c0006	a0003c0003t0007 a0005c0005t0010 a0006c0006t0013 a0003c0003t0007 a0005c0005t0010 a0006c0006t0013	a0003c0003t0007g0034 a0005c0005t0010g0006 a0006c0006t0013g0025 a0003c0003t0007g0034 a0005c0005t0010g0006 a0006c0006t0013g0025	3	66	0.0455	16	c.-20 others(39): Show c.-209-123979_-209-123964dupCTTCCTTCCTTCCTTC	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(9): Show GAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0018 a0005c0005t0018	a0005c0005t0018g0028 a0005c0005t0018g0028	1	66	0.0152	16	c.-71 others(35): Show c.-71+82965_-71+82966insAAGAAAGAAAGAGAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99432495	C C	CTTTTCTT others(9): Show CTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp1 HG02723.hp2 HG03471.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0004 a0008c0008t0007 a0001c0001t0004 a0008c0008t0007	a0001c0001t0004g0044 a0008c0008t0007g0038 a0001c0001t0004g0044 a0008c0008t0007g0038	2	66	0.0303	16	c.-71 others(37): Show c.-71+107014_-71+107015insTCTTTTCTTTTCTTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99463108	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp2 HG02109.hp1 others(5): Show HG01099.hp1 HG01123.hp2 HG02109.hp1 HG02735.hp1 HG02965.hp1 HG02976.hp2 NA19000.hp2 NA19070.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006	a0001c0001t0004 a0001c0001t0006 a0002c0002t0001 others(5): Show a0001c0001t0004 a0001c0001t0006 a0002c0002t0001 a0003c0003t0002 a0004c0004t0002 a0005c0005t0001 a0005c0005t0010 a0006c0006t0011	a0001c0001t0004g0010 a0001c0001t0006g0032 a0002c0002t0001g0003 others(5): Show a0001c0001t0004g0010 a0001c0001t0006g0032 a0002c0002t0001g0003 a0003c0003t0002g0012 a0004c0004t0002g0001 a0005c0005t0001g0017 a0005c0005t0010g0006 a0006c0006t0011g0033	8	66	0.1212	16	c.-70 others(35): Show c.-70-93013_-70-92998dupTAAATAAATAAATAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99508686	C C	CTTTCTTT others(9): Show CTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03471.hp2 HG02886.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0002 a0001c0001t0004 a0003c0003t0002	a0001c0001t0004g0029 a0003c0003t0002g0027 a0001c0001t0004g0029 a0003c0003t0002g0027	2	66	0.0303	16	c.-70 others(35): Show c.-70-47456_-70-47455insCTTTTTTTTTTTTTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99553979	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01934.hp2 HG02602.hp2 HG01169.hp2 HG01934.hp2 HG02602.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0006 a0001c0001 a0003c0003 a0006c0006	a0001c0001t0001 a0003c0003t0002 a0006c0006t0001 a0001c0001t0001 a0003c0003t0002 a0006c0006t0001	a0001c0001t0001g0053 a0003c0003t0002g0011 a0006c0006t0001g0005 a0001c0001t0001g0053 a0003c0003t0002g0011 a0006c0006t0001g0005	3	66	0.0455	16	c.-70 others(33): Show c.-70-2151_-70-2150insTACACACACACACACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99637010	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02257.hp2 HG02976.hp1 HG01496.hp1 HG02257.hp2 HG02976.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0015 a0002c0002t0021 a0003c0003t0007 a0001c0001t0015 a0002c0002t0021 a0003c0003t0007	a0001c0001t0015g0064 a0002c0002t0021g0055 a0003c0003t0007g0034 a0001c0001t0015g0064 a0002c0002t0021g0055 a0003c0003t0007g0034	3	66	0.0455	16	c.55+ others(33): Show c.55+80757_55+80772dupAAAAAAAAAAAAAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99738616	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01934.hp2 others(4): Show HG01081.hp1 HG01099.hp2 HG01934.hp2 HG02004.hp1 HG02109.hp1 HG02258.hp2 NA18939.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0007c0007	a0001c0001t0001 a0002c0002t0003 a0003c0003t0002 others(4): Show a0001c0001t0001 a0002c0002t0003 a0003c0003t0002 a0005c0005t0003 a0005c0005t0010 a0005c0005t0018 a0007c0007t0023	a0001c0001t0001g0054 a0002c0002t0003g0037 a0003c0003t0002g0011 others(4): Show a0001c0001t0001g0054 a0002c0002t0003g0037 a0003c0003t0002g0011 a0005c0005t0003g0045 a0005c0005t0010g0006 a0005c0005t0018g0028 a0007c0007t0023g0046	7	66	0.1061	16	c.56- others(33): Show c.56-80917_56-80902dupGTGTGTGTGTGTGTGT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99792573	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01123.hp1 others(4): Show HG00733.hp1 HG00735.hp1 HG01123.hp1 HG02109.hp1 HG02109.hp2 HG02965.hp2 HG03130.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0005 a0006c0006 a0001c0001 a0005c0005 a0006c0006	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0005c0005t0010 a0006c0006t0009	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0060 others(4): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0060 a0001c0001t0006g0040 a0001c0001t0009g0063 a0005c0005t0010g0006 a0006c0006t0009g0042	7	66	0.1061	16	c.56- others(33): Show c.56-26968_56-26967insGTGTGTGTGTGTCTGT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99846129	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0050 a0004c0004t0013g0050	1	66	0.0152	16	c.577 others(31): Show c.577+884_577+899dupACACACACACACACAC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99981077	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01496.hp2 others(10): Show HG01081.hp1 HG01099.hp1 HG01496.hp2 HG01934.hp1 HG02109.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02735.hp2 HG02895.hp1 HG03471.hp2 NA19043.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0011	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0003c0011 a0004c0004 a0005c0005 a0011c0009	a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 others(8): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0002c0002t0005 a0003c0003t0002 a0003c0011t0019 a0004c0004t0002 a0005c0005t0003 a0005c0005t0010 a0005c0005t0018 a0011c0009t0005	a0001c0001t0004g0010 a0001c0001t0004g0029 a0001c0001t0012g0018 others(10): Show a0001c0001t0004g0010 a0001c0001t0004g0029 a0001c0001t0012g0018 a0001c0001t0012g0030 a0001c0001t0015g0064 a0002c0002t0005g0015 a0003c0003t0002g0061 a0003c0011t0019g0059 a0004c0004t0002g0051 a0005c0005t0003g0045 a0005c0005t0010g0006 a0005c0005t0018g0028 a0011c0009t0005g0056	13	66	0.1970	16	c.878 others(35): Show c.878-20945_878-20930dupTATATATATATATATA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99981103	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0014 a0006c0006t0014	a0006c0006t0014g0058 a0006c0006t0014g0058	1	66	0.0152	16	c.878 others(35): Show c.878-20930_878-20929insTATATATATATATACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99990453	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp2 HG01123.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0060 a0001c0001t0003g0021 a0001c0001t0003g0060	2	66	0.0303	16	c.878 others(35): Show c.878-11580_878-11579insCACACACACACACACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100072990	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0011 a0006c0006t0011	a0006c0006t0011g0033 a0006c0006t0011g0033	1	66	0.0152	16	c.143 others(35): Show c.1430-1148_1430-1133dupAAAAAAAAAAAAAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100090501	T T	TCCTCCCT others(9): Show TCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02109.hp1 HG02895.hp2 others(2): Show HG00738.hp2 HG02109.hp1 HG02895.hp2 HG06807.hp2 NA18522.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0003c0003t0007 a0004c0004t0002 others(2): Show a0001c0001t0001 a0003c0003t0007 a0004c0004t0002 a0004c0004t0013 a0005c0005t0010	a0001c0001t0001g0020 a0003c0003t0007g0057 a0004c0004t0002g0041 others(2): Show a0001c0001t0001g0020 a0003c0003t0007g0057 a0004c0004t0002g0041 a0004c0004t0013g0050 a0005c0005t0010g0006	5	66	0.0758	16	c.158 others(37): Show c.1580+16219_1580+16234dupCCCTCCCTCCCTCCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100090529	T T	TCCTCCCT others(9): Show TCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02735.hp1 NA18939.hp2 others(1): Show HG02602.hp1 HG02735.hp1 NA18939.hp2 NA18957.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0007 a0001c0001 a0003c0003 a0007c0007	a0001c0001t0006 a0003c0003t0002 a0007c0007t0023 a0001c0001t0006 a0003c0003t0002 a0007c0007t0023	a0001c0001t0006g0032 a0001c0001t0006g0066 a0003c0003t0002g0002 others(1): Show a0001c0001t0006g0032 a0001c0001t0006g0066 a0003c0003t0002g0002 a0007c0007t0023g0046	4	66	0.0606	16	c.158 others(37): Show c.1580+16238_1580+16239insCCCTCCCTCCCTCCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100094765	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	66	0.0152	16	c.158 others(37): Show c.1580+20510_1580+20525dupGGAAGGAAGGAAGGAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100161830	T T	TACACATA others(9): Show TACACATACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0045 a0005c0005t0003g0045	1	66	0.0152	16	c.158 others(37): Show c.1581-29291_1581-29290insTACACACACACACACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100203799	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0016 a0001c0001t0014g0016	1	66	0.0152	16	c.188 others(37): Show c.1884+10153_1884+10168dupACACACACACACACAC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100267253	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02735.hp1 NA19070.hp2 HG01099.hp1 HG02735.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014	a0001c0001t0004g0010 a0001c0001t0006g0032 a0001c0001t0014g0016 a0001c0001t0004g0010 a0001c0001t0006g0032 a0001c0001t0014g0016	3	66	0.0455	16	c.216 others(35): Show c.2165-3826_2165-3811dupCACACACACACACACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100342152	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG06807.hp1 HG02886.hp2 HG06807.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0006 a0004c0004 a0006c0006	a0004c0004t0020 a0006c0006t0013 a0004c0004t0020 a0006c0006t0013	a0004c0004t0020g0024 a0006c0006t0013g0025 a0004c0004t0020g0024 a0006c0006t0013g0025	2	66	0.0303	16	c.303 others(33): Show c.3030+963_3030+978dupCACACACACACACACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1098787	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01261.hp1 HG02056.hp1 others(2): Show HG00642.hp2 HG01261.hp1 HG02056.hp1 HG02622.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0020	a0001c0001t0001 a0001c0003t0001 a0001c0005t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0002 a0001c0009t0001 a0001c0020t0001	a0001c0001t0001g0149 a0001c0003t0001g0175 a0001c0005t0002g0019 others(2): Show a0001c0001t0001g0149 a0001c0003t0001g0175 a0001c0005t0002g0019 a0001c0009t0001g0150 a0001c0020t0001g0151	5	232	0.0216	16	c.-83 others(33): Show c.-83+5668_-83+5669insTATATATATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1098789	C C	CACATATA others(9): Show CACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19065.hp1 NA20905.hp1 HG02040.hp1 NA19065.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0033 a0001c0003t0001g0224 a0001c0004t0001g0034 a0001c0001t0001g0033 a0001c0003t0001g0224 a0001c0004t0001g0034	3	232	0.0129	16	c.-83 others(33): Show c.-83+5670_-83+5671insCATATATATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1098789	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	232	0.0043	16	c.-83 others(33): Show c.-83+5683_-83+5698dupTATATATATATATATA	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(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp2 HG00735.hp2 others(42): Show HG00423.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01993.hp2 HG02015.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02738.hp1 HG02965.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 NA18747.hp2 NA18953.hp2 NA18954.hp1 NA19002.hp1 NA19003.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0020 a0001c0021 a0001c0022 a0004c0016 a0007c0018	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0007t0001 a0001c0007t0006 a0001c0008t0001 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0004c0016t0001 a0007c0018t0001	a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0047 others(42): Show a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0002t0001g0068 a0001c0002t0001g0176 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0004g0228 a0001c0003t0001g0077 a0001c0003t0001g0118 a0001c0003t0001g0219 a0001c0004t0001g0041 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0103 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0005g0110 a0001c0005t0001g0004 a0001c0005t0001g0078 a0001c0005t0001g0207 a0001c0005t0001g0230 a0001c0005t0002g0019 a0001c0006t0001g0028 a0001c0006t0001g0037 a0001c0006t0001g0162 a0001c0006t0001g0183 a0001c0006t0001g0184 a0001c0006t0001g0229 a0001c0007t0001g0012 a0001c0007t0001g0052 a0001c0007t0006g0170 a0001c0008t0001g0043 a0001c0008t0001g0169 a0001c0008t0001g0218 a0001c0020t0001g0151 a0001c0021t0001g0231 a0001c0022t0001g0137 a0004c0016t0001g0002 a0004c0016t0001g0003 a0007c0018t0001g0148	45	232	0.1940	16	c.-83 others(35): Show c.-83+26218_-83+26233dupTGTGTGTGTGTGTGTG	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1132658	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01978.hp2 HG02015.hp2 others(12): Show HG01952.hp1 HG01978.hp2 HG02015.hp2 HG02148.hp2 HG02647.hp1 HG03239.hp2 HG04204.hp1 NA18747.hp1 NA18951.hp1 NA18953.hp2 NA18961.hp1 NA18969.hp2 NA18972.hp2 NA18979.hp2 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0002t0001g0099 a0001c0002t0001g0145 a0001c0002t0003g0069 others(12): Show a0001c0002t0001g0099 a0001c0002t0001g0145 a0001c0002t0003g0069 a0001c0002t0005g0050 a0001c0002t0007g0059 a0001c0003t0001g0074 a0001c0003t0001g0112 a0001c0003t0001g0140 a0001c0003t0001g0168 a0001c0004t0001g0080 a0001c0004t0001g0089 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0001g0132 a0001c0005t0001g0163	15	232	0.0647	16	c.-82 others(35): Show c.-82-15250_-82-15235dupATAAATAAATAAATAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1142966	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0200 a0001c0006t0001g0201 a0001c0006t0001g0200 a0001c0006t0001g0201	2	232	0.0086	16	c.-82 others(33): Show c.-82-4960_-82-4959insATATATATATATATAT	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(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19002.hp1 HG02976.hp2 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0001 a0001c0003t0001 a0001c0008t0001	a0001c0003t0001g0077 a0001c0008t0001g0143 a0001c0003t0001g0077 a0001c0008t0001g0143	2	232	0.0086	16	c.55+ others(33): Show c.55+12290_55+12305dupTATATATATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1160344	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	232	0.0043	16	c.55+ others(33): Show c.55+12282_55+12283insGTATATATATATATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1220003	A A	AAAATAAA others(9): Show AAAATAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0196 a0001c0005t0001g0196	1	232	0.0043	16	c.56- others(29): Show c.56-681_56-680insTAAAAAAGAAAAGAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245221	T T	TAACATAT others(9): Show TAACATATATATATAAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0111 a0001c0006t0001g0111	1	232	0.0043	16	c.358 others(35): Show c.358+17229_358+17230insACATATATATATAACA	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(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG02258.hp1 HG02717.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0015 a0001c0006 a0003c0015	a0001c0006t0001 a0003c0015t0001 a0001c0006t0001 a0003c0015t0001	a0001c0006t0001g0223 a0003c0015t0001g0008 a0001c0006t0001g0223 a0003c0015t0001g0008	2	232	0.0086	16	c.454 others(33): Show c.454+1959_454+1974dupTTTTTTTTTTTTTTTT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1332495	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01099.hp1 others(12): Show HG00735.hp2 HG01074.hp2 HG01099.hp1 HG01884.hp2 HG01952.hp2 HG02155.hp1 HG02615.hp1 HG02615.hp2 HG02922.hp2 HG02976.hp1 HG03834.hp2 NA18522.hp1 NA18612.hp1 NA18951.hp2 NA19003.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0002c0014 a0002c0017 a0007c0018	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0002c0014t0001 a0002c0017t0001 a0007c0018t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0204 others(12): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0204 a0001c0004t0001g0061 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0073 a0001c0005t0001g0188 a0001c0005t0001g0196 a0001c0006t0001g0183 a0001c0006t0001g0213 a0002c0014t0001g0220 a0002c0014t0001g0232 a0002c0017t0001g0179 a0007c0018t0001g0148	15	232	0.0647	16	c.136 others(35): Show c.1364+2582_1364+2597dupAGGAAGGAAGGAAGGA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1348157	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01099.hp2 others(20): Show HG00735.hp2 HG01074.hp1 HG01099.hp2 HG01167.hp1 HG01943.hp1 HG02132.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02809.hp1 HG02976.hp1 HG03225.hp2 NA18948.hp2 NA18972.hp2 NA18979.hp2 NA18980.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0024 a0002c0014 a0002c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0001c0010t0001 a0001c0012t0001 a0001c0024t0001 a0002c0014t0001 a0002c0017t0001	a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0097 others(20): Show a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0129 a0001c0001t0001g0152 a0001c0002t0001g0227 a0001c0002t0003g0079 a0001c0002t0008g0221 a0001c0003t0001g0140 a0001c0003t0001g0165 a0001c0003t0001g0168 a0001c0004t0001g0065 a0001c0004t0001g0132 a0001c0005t0001g0004 a0001c0005t0001g0163 a0001c0006t0002g0178 a0001c0010t0001g0009 a0001c0012t0001g0104 a0001c0024t0001g0070 a0002c0014t0001g0220 a0002c0017t0001g0179	23	232	0.0991	16	c.136 others(35): Show c.1365-4163_1365-4148dupAAAAAAAAAAAAAAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1385270	T T	TGACTGAT others(9): Show TGACTGATTATATACAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0229 a0001c0006t0001g0229	1	232	0.0043	16	c.251 others(33): Show c.2518-340_2518-325dupGACTGATTATATACAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1406642	G G	GGGGGGTG others(9): Show GGGGGGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	232	0.0043	16	c.32 others(27): Show c.3224_*3225insGGGGGTGTGTGTGTGT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding		2426		chr3	TogoVar
CNTN6_chr3_1088024_1409217	1406642	G G	GGGGTGTG others(9): Show GGGGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01952.hp1 HG02027.hp2 others(7): Show HG00639.hp1 HG01952.hp1 HG02027.hp2 NA18948.hp1 NA18951.hp2 NA18954.hp2 NA18979.hp2 NA18980.hp1 NA19000.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001	a0001c0001t0001g0013 a0001c0001t0001g0130 a0001c0001t0001g0141 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0173 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0007g0059 a0001c0003t0001g0168 a0001c0004t0001g0132 a0001c0009t0001g0150	10	232	0.0431	16	c.32 others(27): Show c.3224_*3225insGGGTGTGTGTGTGTGT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding		2426		chr3	TogoVar
CNTN6_chr3_1088024_1409217	1406642	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01361.hp2 HG02055.hp1 others(1): Show HG00609.hp1 HG01361.hp2 HG02055.hp1 HG02258.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0015 a0001c0001 a0001c0003 a0003c0015	a0001c0001t0001 a0001c0003t0001 a0003c0015t0001 a0001c0001t0001 a0001c0003t0001 a0003c0015t0001	a0001c0001t0001g0171 a0001c0003t0001g0142 a0003c0015t0001g0007 others(1): Show a0001c0001t0001g0171 a0001c0003t0001g0142 a0003c0015t0001g0007 a0003c0015t0001g0008	4	232	0.0172	16	c.32 others(27): Show c.3224_*3225insGTGTGTGTGTGTGTGT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding		2426		chr3	TogoVar
CNTNAP1_chr17_42677531_42704993	42686469	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0186 a0001c0021t0002g0186	1	364	0.0028	16	c.900 others(31): Show c.900+337_900+352dupTTTTTTTTTTTTTTTT	CNTNAP1	ENSG00000108797.12	transcript	ENST00000264638.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CNTNAP2_chr7_146111801_148425998	146231015	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02451.hp1 HG02486.hp1 others(5): Show HG00735.hp2 HG02451.hp1 HG02486.hp1 HG02717.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0018 a0001c0019 a0002c0016	a0001c0001t0007 a0001c0002t0001 a0001c0005t0008 others(5): Show a0001c0001t0007 a0001c0002t0001 a0001c0005t0008 a0001c0008t0001 a0001c0009t0019 a0001c0018t0002 a0001c0019t0006 a0002c0016t0004	a0001c0001t0007g0020 a0001c0002t0001g0007 a0001c0005t0008g0005 others(5): Show a0001c0001t0007g0020 a0001c0002t0001g0007 a0001c0005t0008g0005 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0018t0002g0012 a0001c0019t0006g0015 a0002c0016t0004g0024	8	40	0.2000	16	c.97+ others(35): Show c.97+114054_97+114069dupTAAATAAATAAATAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146263284	A A	AGGAAGGA others(9): Show AGGAAGGAAGGAAGGAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0016 a0001c0011t0016	a0001c0011t0016g0019 a0001c0011t0016g0019	1	40	0.0250	16	c.97+ others(35): Show c.97+146324_97+146339dupGGACGGAAGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146309829	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 NA21309.hp1 HG02922.hp1 HG02922.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0012 a0001c0004t0005 a0001c0010t0002 a0001c0001t0012 a0001c0004t0005 a0001c0010t0002	a0001c0001t0012g0034 a0001c0004t0005g0004 a0001c0010t0002g0014 a0001c0001t0012g0034 a0001c0004t0005g0004 a0001c0010t0002g0014	3	40	0.0750	16	c.97+ others(35): Show c.97+192867_97+192882dupGGAAGGAAGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)