Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	status	chr	external
CNTN4_chr3_2093866_3062959	2340706	T T	TAGAGAGA others(25): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18990.hp2 HG00438.hp2 NA18990.hp2	a0001 a0001	a0001c0003 a0001c0020 a0001c0003 a0001c0020	a0001c0003t0001 a0001c0020t0002 a0001c0003t0001 a0001c0020t0002	a0001c0003t0001g0075 a0001c0020t0002g0082 a0001c0003t0001g0075 a0001c0020t0002g0082	2	116	0.0172	32	c.-89 others(49): Show c.-89+1474_-89+1475insGAGAGAGAGAGAGAGAGAGAGAGAGGGG GAGA	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(25): Show TATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0065 a0004c0011t0003g0065	1	116	0.0086	32	c.-89 others(49): Show c.-89+1478_-89+1479insTATATATATATATATAGAGAGAGAGAGA GAGA	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(25): Show TATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0094 a0001c0003t0001g0094	1	116	0.0086	32	c.-89 others(49): Show c.-89+1478_-89+1479insTATATATATATATATATAGAGAGAGAGA GAGA	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(25): Show TATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA20300.hp2 HG03654.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0003 a0001c0002t0006 a0001c0003t0003	a0001c0002t0006g0071 a0001c0003t0003g0015 a0001c0002t0006g0071 a0001c0003t0003g0015	2	116	0.0172	32	c.-89 others(49): Show c.-89+1478_-89+1479insTATATATATATATATATATATAGAGAGA GAGA	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(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG03239.hp1 HG01891.hp1 HG02809.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0001 a0001c0004t0002 a0001c0001t0003 a0001c0002t0001 a0001c0004t0002	a0001c0001t0003g0058 a0001c0002t0001g0029 a0001c0004t0002g0064 a0001c0001t0003g0058 a0001c0002t0001g0029 a0001c0004t0002g0064	3	116	0.0259	32	c.-88 others(51): Show c.-88-90354_-88-90353insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	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(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp2 HG02451.hp1 HG00735.hp1 HG01361.hp2 HG02451.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0001c0004 a0009c0027 a0001c0002 a0001c0004 a0009c0027	a0001c0002t0004 a0001c0004t0001 a0009c0027t0001 a0001c0002t0004 a0001c0004t0001 a0009c0027t0001	a0001c0002t0004g0017 a0001c0004t0001g0036 a0009c0027t0001g0007 a0001c0002t0004g0017 a0001c0004t0001g0036 a0009c0027t0001g0007	3	116	0.0259	32	c.-88 others(51): Show c.-88-90354_-88-90353insTTCTTTCTTTCTTTCTTTCTTTCTCT CTTTCT	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(25): Show CCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03654.hp2 HG01261.hp1 HG03654.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0028 a0001c0003 a0006c0028	a0001c0003t0001 a0006c0028t0001 a0001c0003t0001 a0006c0028t0001	a0001c0003t0001g0037 a0006c0028t0001g0023 a0001c0003t0001g0037 a0006c0028t0001g0023	2	116	0.0172	32	c.55+ others(49): Show c.55+36068_55+36069insCACACACACACACACACACACACACACA CACA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2626496	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0071 a0001c0002t0006g0071	1	116	0.0086	32	c.55+ others(49): Show c.55+54948_55+54949insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2677390	T T	TGAGATCT others(25): Show TGAGATCTATGTATCTATACATAGATATAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00639.hp1 others(84): Show HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 NA18906.hp2 NA18990.hp1 NA18990.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0020 a0001c0022 a0001c0024 a0001c0025 a0002c0014 a0002c0016 a0003c0008 a0003c0019 a0004c0011 a0005c0012 a0006c0028 a0007c0018 a0008c0026 a0009c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0005t0001 a0001c0005t0006 a0001c0005t0009 a0001c0005t0010 a0001c0006t0002 a0001c0007t0004 a0001c0007t0016 a0001c0009t0004 a0001c0009t0014 a0001c0010t0003 a0001c0013t0007 a0001c0020t0002 a0001c0022t0003 a0001c0024t0015 a0001c0025t0001 a0002c0014t0001 a0002c0016t0003 a0003c0008t0013 a0003c0019t0002 a0004c0011t0003 a0005c0012t0009 a0006c0028t0001 a0007c0018t0003 a0008c0026t0017 a0009c0027t0001	a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0049 others(84): Show a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0002g0055 a0001c0001t0002g0074 a0001c0001t0002g0086 a0001c0001t0003g0008 a0001c0001t0003g0058 a0001c0001t0003g0095 a0001c0001t0003g0101 a0001c0001t0004g0042 a0001c0001t0004g0081 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0054 a0001c0001t0005g0115 a0001c0001t0008g0043 a0001c0001t0008g0053 a0001c0001t0008g0089 a0001c0001t0009g0052 a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0038 a0001c0002t0001g0088 a0001c0002t0002g0035 a0001c0002t0002g0078 a0001c0002t0002g0102 a0001c0002t0003g0024 a0001c0002t0004g0017 a0001c0002t0005g0002 a0001c0002t0005g0003 a0001c0002t0006g0071 a0001c0002t0007g0087 a0001c0002t0012g0013 a0001c0003t0001g0014 a0001c0003t0001g0037 a0001c0003t0001g0045 a0001c0003t0001g0075 a0001c0003t0001g0094 a0001c0003t0001g0116 a0001c0003t0002g0061 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0107 a0001c0003t0003g0015 a0001c0003t0003g0070 a0001c0003t0011g0113 a0001c0004t0001g0036 a0001c0004t0001g0106 a0001c0004t0002g0022 a0001c0004t0002g0048 a0001c0004t0002g0064 a0001c0004t0002g0076 a0001c0004t0006g0044 a0001c0004t0006g0068 a0001c0005t0001g0090 a0001c0005t0001g0096 a0001c0005t0006g0010 a0001c0005t0009g0091 a0001c0005t0010g0001 a0001c0005t0010g0085 a0001c0006t0002g0051 a0001c0006t0002g0060 a0001c0007t0004g0066 a0001c0007t0016g0105 a0001c0009t0004g0005 a0001c0009t0014g0039 a0001c0010t0003g0011 a0001c0010t0003g0077 a0001c0013t0007g0056 a0001c0020t0002g0082 a0001c0022t0003g0083 a0001c0024t0015g0057 a0001c0025t0001g0100 a0002c0014t0001g0016 a0002c0016t0003g0079 a0003c0008t0013g0109 a0003c0019t0002g0031 a0004c0011t0003g0065 a0004c0011t0003g0111 a0005c0012t0009g0093 a0006c0028t0001g0023 a0007c0018t0003g0062 a0008c0026t0017g0047 a0009c0027t0001g0007	87	116	0.7500	32	c.56- others(49): Show c.56-58792_56-58761dupGAGATCTATGTATCTATACATAGATATA GAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2798365	A A	ATATCTAT others(25): Show ATATCTATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA20300.hp2 HG02257.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0006 a0001c0022t0003 a0001c0002t0006 a0001c0022t0003	a0001c0002t0006g0071 a0001c0022t0003g0083 a0001c0002t0006g0071 a0001c0022t0003g0083	2	116	0.0172	32	c.359 others(51): Show c.359-21121_359-21120insTATCTATCTATCTATCTATCTATCTA TCTATC	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24		chr3	TogoVar
CNTN4_chr3_2093866_3062959	2815873	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0083 a0001c0022t0003g0083	1	116	0.0086	32	c.359 others(49): Show c.359-3595_359-3594insATATATATATATATATATATATATATAT ATAT	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(25): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01934.hp2 HG02735.hp2 HG01123.hp2 HG01934.hp2 HG02735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0061 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0061	3	66	0.0455	32	c.-20 others(55): Show c.-209-123964_-209-123963insCTTCCTTCCTTCCTTCCTTCCT TCCTCCCTTC	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(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0062 a0001c0001t0011g0062	1	66	0.0152	32	c.-71 others(51): Show c.-71+82965_-71+82966insAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAA	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(25): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	66	0.0152	32	c.-71 others(51): Show c.-71+82965_-71+82966insAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAA	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(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20300.hp2 HG02965.hp1 NA20300.hp2	a0006 a0012 a0006 a0012	a0006c0006 a0012c0013 a0006c0006 a0012c0013	a0006c0006t0011 a0012c0013t0008 a0006c0006t0011 a0012c0013t0008	a0006c0006t0011g0033 a0012c0013t0008g0031 a0006c0006t0011g0033 a0012c0013t0008g0031	2	66	0.0303	32	c.56- others(49): Show c.56-92210_56-92209insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24	INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99941571	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02886.hp2 others(1): Show HG01243.hp2 HG02109.hp1 HG02886.hp2 HG02976.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0005 a0003c0003t0007 a0004c0004t0020 others(1): Show a0001c0001t0005 a0003c0003t0007 a0004c0004t0020 a0005c0005t0010	a0001c0001t0005g0014 a0003c0003t0007g0034 a0004c0004t0020g0024 others(1): Show a0001c0001t0005g0014 a0003c0003t0007g0034 a0004c0004t0020g0024 a0005c0005t0010g0006	4	66	0.0606	32	c.674 others(51): Show c.674-15220_674-15219insCACACACACACACACACACACACACA CACACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	7/24	INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100090505	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01934.hp2 HG01123.hp2 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0011 a0003c0003t0002g0012	2	66	0.0303	32	c.158 others(53): Show c.1580+16234_1580+16235insCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24	INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100090505	C C	CCTTTCCT others(25): Show CCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	66	0.0152	32	c.158 others(53): Show c.1580+16212_1580+16213insTTTCCTCCCTCCCTCCCTCCCTCC CTCCCTTC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24	INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100090525	C C	CCCTTCCT others(25): Show CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0027 a0003c0003t0002g0027	1	66	0.0152	32	c.158 others(53): Show c.1580+16238_1580+16239insCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24	INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1119322	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0001 a0006c0027t0001	a0006c0027t0001g0191 a0006c0027t0001g0191	1	232	0.0043	32	c.-83 others(51): Show c.-83+26233_-83+26234insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	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(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	232	0.0043	32	c.55+ others(49): Show c.55+12305_55+12306insTATATATATATATATATATATATATATA TATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146426185	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0021 a0004c0014t0021	a0004c0014t0021g0022 a0004c0014t0021g0022	1	40	0.0250	32	c.97+ others(51): Show c.97+309237_97+309238insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146451880	C C	CATACGTG others(25): Show CATACGTGTATGTATGTATATATACGTATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0028 a0001c0006t0009g0028	1	40	0.0250	32	c.98- others(51): Show c.98-322390_98-322389insTACGTGTATGTATGTATATATACGTA TATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146665783	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	40	0.0250	32	c.98- others(51): Show c.98-108473_98-108472insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146822864	T T	TAAATATA others(25): Show TAAATATACTCATTCTTCAGCATATTTACATGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0033 a0001c0006t0014g0033	1	40	0.0250	32	c.209 others(51): Show c.209-16539_209-16508dupCATATTTACATGGAAATATACTCATT CTTCAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	2/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146822864	T T	TAAATATA others(25): Show TAAATATACTCGTTCTTCAGCATATTTACATGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0028 a0001c0006t0009g0028	1	40	0.0250	32	c.209 others(51): Show c.209-16837_209-16836insGTTCTTCAGCATATTTACATGGAAAT ATACTC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	2/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146823307	A A	ACATGTAA others(25): Show ACATGTAAATATACTCATTCTTCAGTATATTTC	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	32	c.209 others(51): Show c.209-16303_209-16272dupTAAATATACTCATTCTTCAGTATATT TCCATG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	2/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146823634	A A	ATATACTC others(25): Show ATATACTCATTCTTCAGTATATTTAAATATGAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03540.hp2 NA21309.hp1 HG02897.hp1 HG03540.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0010 a0001c0002 a0001c0003 a0001c0010	a0001c0002t0001 a0001c0003t0004 a0001c0010t0002 a0001c0002t0001 a0001c0003t0004 a0001c0010t0002	a0001c0002t0001g0008 a0001c0003t0004g0029 a0001c0010t0002g0014 a0001c0002t0001g0008 a0001c0003t0004g0029 a0001c0010t0002g0014	3	40	0.0750	32	c.209 others(51): Show c.209-16016_209-15985dupTGAGTATACTCATTCTTCAGTATATT TAAATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	2/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147510850	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02976.hp1 NA20129.hp2 HG02886.hp1 HG02976.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0013 a0001c0003t0023 a0001c0015t0001 a0001c0003t0013 a0001c0003t0023 a0001c0015t0001	a0001c0003t0013g0010 a0001c0003t0023g0030 a0001c0015t0001g0011 a0001c0003t0013g0010 a0001c0003t0023g0030 a0001c0015t0001g0011	3	40	0.0750	32	c.177 others(53): Show c.1777+24830_1777+24831insTATATATATATATATATATATATA TATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147586543	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0026 a0001c0012t0004g0026	1	40	0.0250	32	c.189 others(53): Show c.1897+24289_1897+24290insAAGGAAGGAAGGAAGGAAGGGAGG AAGGGAGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148253055	T T	TAGACAGA others(25): Show TAGACAGATGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0002 a0001c0002t0010g0002	1	40	0.0250	32	c.338 others(53): Show c.3382-13978_3382-13977insAGACAGATGATAGATAGATAGATA GATAGATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	20/23		chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148301306	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG01891.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0001t0002g0006 a0001c0001t0006g0009	2	40	0.0500	32	c.347 others(53): Show c.3475+34197_3475+34198insTATATATATATATATATATATATA TATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41979653	T T	TTATATAT others(25): Show TTATATATATATATTTTTAAAAAATATTTTATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG03486.hp1 others(2): Show HG02109.hp1 HG02622.hp1 HG03486.hp1 NA19030.hp1 NA19086.hp2	a0007 a0017 a0028 a0007 a0017 a0028	a0007c0009 a0007c0016 a0017c0014 others(1): Show a0007c0009 a0007c0016 a0017c0014 a0028c0027	a0007c0009t0023 a0007c0009t0025 a0007c0016t0001 others(2): Show a0007c0009t0023 a0007c0009t0025 a0007c0016t0001 a0017c0014t0001 a0028c0027t0005	a0007c0009t0023g0039 a0007c0009t0025g0037 a0007c0016t0001g0036 others(2): Show a0007c0009t0023g0039 a0007c0009t0025g0037 a0007c0016t0001g0036 a0017c0014t0001g0038 a0028c0027t0005g0033	5	108	0.0463	32	c.147 others(51): Show c.1477+6514_1477+6515insTATAAAATATTTTTTAAAAATATATA TATATA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	9/23		chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41979653	T T	TTATATAT others(25): Show TTATATATATATATTTTTAAAAAATATTTTTTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0026 a0026	a0026c0025 a0026c0025	a0026c0025t0019 a0026c0025t0019	a0026c0025t0019g0028 a0026c0025t0019g0028	1	108	0.0093	32	c.147 others(51): Show c.1477+6514_1477+6515insTAAAAAATATTTTTTAAAAATATATA TATATA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	9/23		chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42034186	G G	GTATCTAT others(25): Show GTATCTATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	108	0.0093	32	c.391 others(51): Show c.391-20662_391-20661insGATAGATAGATAGATAGATAGATAGA TAGATA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23		chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42090783	C C	CATATGTG others(25): Show CATATGTGTGTGTGTGTGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp2 HG03490.hp1 others(3): Show HG00280.hp2 HG01175.hp2 HG03490.hp1 HG03704.hp1 NA19086.hp2 NA19090.hp2	a0004 a0028 a0004 a0028	a0004c0004 a0028c0027 a0004c0004 a0028c0027	a0004c0004t0005 a0028c0027t0005 a0004c0004t0005 a0028c0027t0005	a0004c0004t0005g0029 a0004c0004t0005g0030 a0004c0004t0005g0031 others(3): Show a0004c0004t0005g0029 a0004c0004t0005g0030 a0004c0004t0005g0031 a0004c0004t0005g0032 a0004c0004t0005g0034 a0028c0027t0005g0033	6	108	0.0556	32	c.197 others(51): Show c.197-13722_197-13721insATATATATATATATACACACACACAC ACATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	2/23		chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	274	0.0037	32	c.133 others(51): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAAAAAAAATATATA TATATA	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(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03516.hp2 NA18987.hp1 HG01433.hp2 HG03516.hp2 NA18987.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0014 a0001c0001 a0002c0002 a0002c0014	a0001c0001t0001 a0002c0002t0004 a0002c0014t0006 a0001c0001t0001 a0002c0002t0004 a0002c0014t0006	a0001c0001t0001g0195 a0002c0002t0004g0014 a0002c0014t0006g0269 a0001c0001t0001g0195 a0002c0002t0004g0014 a0002c0014t0006g0269	3	274	0.0110	32	c.133 others(51): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAAAATATATATATA TATATA	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(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0004 a0006c0009t0004	a0006c0009t0004g0273 a0006c0009t0004g0273	1	274	0.0037	32	c.133 others(51): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAATATATATATATA TATATA	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(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02055.hp1 NA19068.hp2 HG01257.hp1 HG02055.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0001 a0002c0014t0013 a0001c0001t0001 a0002c0014t0013	a0001c0001t0001g0158 a0001c0001t0001g0185 a0002c0014t0013g0054 a0001c0001t0001g0158 a0001c0001t0001g0185 a0002c0014t0013g0054	3	274	0.0110	32	c.133 others(51): Show c.1334-1182_1334-1181insAAAAAAAAAAAATATATATATATATA TATATA	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(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0136 a0002c0002t0002g0136	1	274	0.0037	32	c.133 others(51): Show c.1334-1182_1334-1181insAAAAAAAAAATATATATATATATATA TATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23	INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0250 a0001c0001t0010g0250	1	274	0.0037	32	c.133 others(51): Show c.1334-1182_1334-1181insAAAATATATATATATATATATATATA TATATA	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(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0027 a0027	a0027c0040 a0027c0040	a0027c0040t0001 a0027c0040t0001	a0027c0040t0001g0267 a0027c0040t0001g0267	1	274	0.0037	32	c.165 others(51): Show c.1655+2958_1655+2959insTATATATATATATATATATATATATA TATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470482	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp1 HG03098.hp2 HG02630.hp1 HG02970.hp1 HG03098.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0006 a0004c0007 a0002c0002 a0003c0006 a0004c0007	a0002c0002t0002 a0003c0006t0021 a0004c0007t0002 a0002c0002t0002 a0003c0006t0021 a0004c0007t0002	a0002c0002t0002g0128 a0003c0006t0021g0001 a0004c0007t0002g0208 a0002c0002t0002g0128 a0003c0006t0021g0001 a0004c0007t0002g0208	3	274	0.0110	32	c.165 others(51): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TATATA	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(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG04228.hp2 NA19070.hp1 HG02155.hp1 HG04228.hp2 NA19070.hp1	a0005 a0008 a0005 a0008	a0005c0008 a0008c0017 a0005c0008 a0008c0017	a0005c0008t0001 a0005c0008t0003 a0008c0017t0002 a0005c0008t0001 a0005c0008t0003 a0008c0017t0002	a0005c0008t0001g0108 a0005c0008t0003g0152 a0008c0017t0002g0068 a0005c0008t0001g0108 a0005c0008t0003g0152 a0008c0017t0002g0068	3	274	0.0110	32	c.165 others(51): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TATTTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23	INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522634	C C	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0250 a0001c0001t0010g0250	1	274	0.0037	32	c.275 others(49): Show c.2755+380_2755+381insCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTC	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23	INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124786464	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	64	0.0156	32	c.275 others(51): Show c.2753-3417_2753-3416insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124871281	C C	CTTACTTA others(25): Show CTTACTTATTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	64	0.0156	32	c.343 others(51): Show c.3436+1522_3436+1523insCTTATTTATTTATTTATTTATTTATT TATTTA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124871281	C C	CTTATTTA others(25): Show CTTATTTATTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0058 a0001c0002t0008g0058	1	64	0.0156	32	c.343 others(51): Show c.3436+1533_3436+1534insATTTATTTATTTATTTATTTATTTAT TTATTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23	INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43644740	A A	AGATAGAT others(25): Show AGATAGATAGATAGATAGATAGATAGATGGATG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	384	0.0026	32	c.264 others(47): Show c.264+510_264+511insCATCCATCTATCTATCTATCTATCTATCTA TC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5		chr7	TogoVar

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Search Results (Total: 10000 hits)