Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNTNAP3B_chr9_41885536_42134426	42034186	G G	GTATCTAT others(17): Show GTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG02040.hp1 others(3): Show HG01081.hp2 HG01106.hp1 HG02040.hp1 HG02040.hp2 HG02273.hp2 HG03490.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0041 a0001c0001 a0006c0041	a0001c0001t0002 a0001c0001t0003 a0006c0041t0002 a0001c0001t0002 a0001c0001t0003 a0006c0041t0002	a0001c0001t0002g0006 a0001c0001t0003g0095 a0001c0001t0003g0100 others(3): Show a0001c0001t0002g0006 a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0006c0041t0002g0020	6	108	0.0556	24	c.391 others(43): Show c.391-20685_391-20662dupGATAGATAGATAGATAGATAGATA	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76376907	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0005 a0003c0028t0005	a0003c0028t0005g0274 a0003c0028t0005g0274	1	274	0.0037	24	c.390 others(43): Show c.390+21420_390+21443dupGTGTGTGTGTGTGTGTGTGTGTGT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76436989	C C	CTATCTAT others(17): Show CTATCTATCTATCTATCTATCTATT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03239.hp2 NA18968.hp2 HG00280.hp2 HG03239.hp2 NA18968.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0010 a0001c0001 a0002c0002 a0004c0010	a0001c0001t0001 a0002c0002t0004 a0004c0010t0002 a0001c0001t0001 a0002c0002t0004 a0004c0010t0002	a0001c0001t0001g0093 a0002c0002t0004g0226 a0004c0010t0002g0143 a0001c0001t0001g0093 a0002c0002t0004g0226 a0004c0010t0002g0143	3	274	0.0110	24	c.538 others(41): Show c.538+9396_538+9397insTCTATCTATCTATCTATTTATCTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76451599	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0128 a0002c0002t0002g0128	1	274	0.0037	24	c.107 others(41): Show c.1072-897_1072-874dupGTGTGTGTGTGTGTGTGTGTGTGT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0013 a0002c0014t0013	a0002c0014t0013g0263 a0002c0014t0013g0263	1	274	0.0037	24	c.133 others(43): Show c.1334-1182_1334-1181insAAAAAAAAAAAATATATATATATA	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(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0023 a0023	a0023c0024 a0023c0024	a0023c0024t0001 a0023c0024t0001	a0023c0024t0001g0096 a0023c0024t0001g0096	1	274	0.0037	24	c.133 others(43): Show c.1334-1182_1334-1181insAAAAAAAAAATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470482	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03710.hp1 NA18944.hp2 HG03139.hp1 HG03710.hp1 NA18944.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0005 a0004c0010 a0002c0002 a0002c0005 a0004c0010	a0002c0002t0028 a0002c0005t0002 a0004c0010t0002 a0002c0002t0028 a0002c0005t0002 a0004c0010t0002	a0002c0002t0028g0239 a0002c0005t0002g0070 a0004c0010t0002g0085 a0002c0002t0028g0239 a0002c0005t0002g0070 a0004c0010t0002g0085	3	274	0.0110	24	c.165 others(43): Show c.1655+2974_1655+2975insTATATATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124057448	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	64	0.0156	24	c.82+ others(41): Show c.82+31739_82+31740insTTTTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124510301	C C	CTATATAT others(17): Show CTATATATATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01069.hp1 HG01070.hp1 others(9): Show HG00423.hp2 HG01069.hp1 HG01070.hp1 HG01261.hp1 HG02293.hp2 HG02698.hp1 HG02723.hp2 HG03098.hp1 HG03098.hp2 HG03486.hp1 NA19000.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0043 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0020g0014 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0002g0034 a0001c0002t0007g0009	12	64	0.1875	24	c.132 others(43): Show c.1327+5756_1327+5757insATCTATATATCTATATATATATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124510301	C C	CTATATCT others(17): Show CTATATCTATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0008 a0005c0005t0001g0008	1	64	0.0156	24	c.132 others(43): Show c.1327+5750_1327+5751insCTATATATCTATATATCTATATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124541179	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02897.hp1 HG02451.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0006 a0001c0001t0007 a0001c0002t0006	a0001c0001t0007g0039 a0001c0002t0006g0028 a0001c0001t0007g0039 a0001c0002t0006g0028	2	64	0.0313	24	c.164 others(45): Show c.1649+13740_1649+13741insTTTTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124558432	T T	TTCGGTTT others(17): Show TTCGGTTTGGGTACACAAAGTTTGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01069.hp1 others(53): Show HG00423.hp1 HG00423.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01261.hp1 HG01261.hp2 HG01891.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03704.hp1 HG03704.hp2 NA18906.hp1 NA19000.hp1 NA19000.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0002c0004 others(5): Show a0001c0001 a0001c0002 a0002c0004 a0002c0008 a0003c0007 a0004c0006 a0005c0005 a0006c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0016 a0001c0002t0019 a0002c0004t0001 a0002c0008t0001 a0003c0007t0001 a0004c0006t0001 a0005c0005t0001 a0006c0003t0008	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0003g0006 a0001c0001t0003g0057 a0001c0001t0004g0052 a0001c0001t0005g0040 a0001c0001t0006g0025 a0001c0001t0007g0039 a0001c0001t0009g0061 a0001c0001t0013g0041 a0001c0001t0014g0037 a0001c0001t0015g0036 a0001c0001t0017g0012 a0001c0001t0018g0021 a0001c0001t0020g0014 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0046 a0001c0002t0001g0054 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0003g0004 a0001c0002t0003g0056 a0001c0002t0004g0044 a0001c0002t0004g0047 a0001c0002t0005g0045 a0001c0002t0006g0028 a0001c0002t0007g0009 a0001c0002t0010g0032 a0001c0002t0011g0029 a0001c0002t0012g0018 a0001c0002t0016g0055 a0001c0002t0019g0051 a0002c0004t0001g0001 a0002c0008t0001g0038 a0003c0007t0001g0017 a0004c0006t0001g0013 a0005c0005t0001g0008 a0006c0003t0008g0035	56	64	0.8750	24	c.165 others(43): Show c.1650-4785_1650-4784insTCGGTTTGGGTACACAAAGTTTGG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	10/23			chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655941	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	64	0.0156	24	c.207 others(43): Show c.2077+7986_2077+7987insAAGAAAGAAAGAAAGAAAGAAAGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706746	C C	CAAGAAGA others(17): Show CAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18906.hp1 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0016 a0001c0002t0001 a0001c0002t0016	a0001c0002t0001g0062 a0001c0002t0016g0055 a0001c0002t0001g0062 a0001c0002t0016g0055	2	64	0.0313	24	c.207 others(45): Show c.2078-40455_2078-40432dupAAGAAGAAGAAGAAGAAGAAGAAG	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(17): Show AAGAAGAAGAAGAAGAAGAAGGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0023 a0001c0001t0003g0006 a0001c0001t0007g0039 a0001c0001t0002g0023 a0001c0001t0003g0006 a0001c0001t0007g0039	3	64	0.0469	24	c.207 others(45): Show c.2078-40432_2078-40431insAAGAAGAAGAAGAAGAAGGAGGAG	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(17): Show AAGAAGAAGAAGAAGAAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0003 a0006c0003	a0006c0003t0008 a0006c0003t0008	a0006c0003t0008g0035 a0006c0003t0008g0035	1	64	0.0156	24	c.207 others(45): Show c.2078-40432_2078-40431insAAGAAGAAGAAGAAGGAGGAGGAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706896	A A	AGAAGGAG others(17): Show AGAAGGAGAAGGAGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02257.hp1 HG02293.hp1 others(2): Show HG01261.hp2 HG02257.hp1 HG02293.hp1 HG02970.hp1 HG03704.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0002 a0001c0001t0014 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0002t0002 a0003c0007t0001	a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0014g0037 others(2): Show a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0014g0037 a0001c0002t0002g0060 a0003c0007t0001g0017	5	64	0.0781	24	c.207 others(45): Show c.2078-40329_2078-40328insGAGAAGGAGAAGAGGAAGAGGAAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124707140	G G	GGAAGAAG others(17): Show GGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0009 a0001c0002t0007g0009	1	64	0.0156	24	c.207 others(45): Show c.2078-40046_2078-40023dupGAAGAAGAAGAAGAAGAAGAAGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124721500	A A	AATAAATA others(17): Show AATAAATAAATAAATAAATAAATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	64	0.0156	24	c.207 others(45): Show c.2078-25718_2078-25717insAATAAATAAATACATAAATAAATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124871277	C C	CTTATTTA others(17): Show CTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02723.hp1 others(8): Show HG01891.hp2 HG02145.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02897.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0019 a0002c0008t0001	a0001c0001t0001g0002 a0001c0001t0007g0039 a0001c0001t0009g0061 others(8): Show a0001c0001t0001g0002 a0001c0001t0007g0039 a0001c0001t0009g0061 a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0002g0030 a0001c0002t0003g0004 a0001c0002t0003g0056 a0001c0002t0007g0009 a0001c0002t0019g0051 a0002c0008t0001g0038	11	64	0.1719	24	c.343 others(43): Show c.3436+1518_3436+1519insTTTATTTATTTATTTATTTATTTA	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(17): Show CTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02145.hp1 HG02257.hp1 others(12): Show HG01069.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02698.hp1 HG02717.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 NA18906.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0003c0007 others(1): Show a0001c0001 a0001c0002 a0003c0007 a0006c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 a0001c0002t0011 a0001c0002t0016 a0003c0007t0001 a0006c0003t0008	a0001c0001t0001g0033 a0001c0001t0002g0022 a0001c0001t0002g0023 others(12): Show a0001c0001t0001g0033 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0004g0052 a0001c0001t0005g0040 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0062 a0001c0002t0005g0045 a0001c0002t0010g0032 a0001c0002t0011g0029 a0001c0002t0016g0055 a0003c0007t0001g0017 a0006c0003t0008g0035	15	64	0.2344	24	c.343 others(43): Show c.3436+1533_3436+1534insATTTATTTATTTATTTATTTATTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43644736	A A	AGATAGAT others(17): Show AGATAGATAGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	384	0.0026	24	c.264 others(39): Show c.264+514_264+515insCATCTATCTATCTATCTATCTATC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644740	A A	AGATAGAT others(17): Show AGATAGATAGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG04228.hp2 NA18522.hp1 HG01123.hp2 HG04228.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254	3	384	0.0078	24	c.264 others(39): Show c.264+510_264+511insCATCTATCTATCTATCTATCTATC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644799	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp2 HG02965.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0228 a0001c0001t0001g0009 a0001c0001t0001g0228	2	384	0.0052	24	c.264 others(39): Show c.264+428_264+451dupCTCTCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01978.hp1 others(8): Show HG00639.hp2 HG01081.hp1 HG01978.hp1 HG02040.hp1 HG03041.hp1 HG03491.hp2 NA18973.hp1 NA18978.hp2 NA19090.hp2 NA19240.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0049 others(8): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0001t0001g0137	11	384	0.0287	24	c.-38 others(43): Show c.-38-15475_-38-15452dupCTCTCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43664130	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	384	0.0026	24	c.-38 others(43): Show c.-38-15479_-38-15478insACTCTCTCTCTCTCTCTCTCTCTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691265	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18981.hp1 NA18941.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0345 a0001c0001t0002g0279 a0001c0001t0002g0345	2	384	0.0052	24	c.-39 others(43): Show c.-39+38140_-39+38163dupCTTTCTTTCTTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691419	G G	GGAAGAAA others(17): Show GGAAGAAAGAAAAAGAAAGAAATAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	384	0.0026	24	c.-39 others(43): Show c.-39+38009_-39+38010insTTATTTCTTTCTTTTTCTTTCTTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA5_chr2_98594314_98613512	98601223	C C	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	420	0.0024	24	c.184 others(39): Show c.184-454_184-431dupTATTTATTTATTTATTTATTTATT	COA5	ENSG00000183513.9	transcript	ENST00000328709.8	protein_coding	2/2			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164725101	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	212	0.0047	24	c.662 others(41): Show c.662-2603_662-2580dupATATATATATATATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	5/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164789020	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0064 a0003c0004t0006g0064	1	212	0.0047	24	c.42- others(41): Show c.42-45169_42-45146dupGTGTGTGTGTGTGTGTGTGTGTGT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51070392	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02280.hp2 HG03098.hp1 others(5): Show HG00735.hp1 HG02280.hp2 HG03098.hp1 HG03669.hp2 HG03831.hp2 NA18943.hp2 NA18951.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0008 a0022	a0001c0004 a0002c0003 a0003c0001 others(4): Show a0001c0004 a0002c0003 a0003c0001 a0005c0005 a0007c0018 a0008c0013 a0022c0047	a0001c0004t0001 a0002c0003t0001 a0003c0001t0001 others(4): Show a0001c0004t0001 a0002c0003t0001 a0003c0001t0001 a0005c0005t0001 a0007c0018t0001 a0008c0013t0008 a0022c0047t0001	a0001c0004t0001g0078 a0001c0004t0001g0195 a0002c0003t0001g0111 others(5): Show a0001c0004t0001g0078 a0001c0004t0001g0195 a0002c0003t0001g0111 a0003c0001t0001g0029 a0005c0005t0001g0085 a0007c0018t0001g0185 a0008c0013t0008g0110 a0022c0047t0001g0217	8	230	0.0348	24	c.109 others(45): Show c.1096+14750_1096+14773dupGTGTGTGTGTGTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51226536	G G	GAGTGAGT others(17): Show GAGTGAGTGAGTAAGTGAGTGACTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0008 a0008c0013t0008	a0008c0013t0008g0110 a0008c0013t0008g0110	1	230	0.0044	24	c.42- others(39): Show c.42-6616_42-6593dupTAGTCACTCACTTACTCACTCACT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COG3_chr13_45459939_45541701	45486339	C C	CGGGAGAG others(17): Show CGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01993.hp1 others(6): Show HG01167.hp2 HG01169.hp1 HG01993.hp1 HG02486.hp2 NA18942.hp1 NA18944.hp2 NA18969.hp1 NA18973.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 others(6): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132	9	342	0.0263	24	c.844 others(39): Show c.844-149_844-126dupGGGAGAGGGAGAGGGAGAGGGAGA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45497784	T T	TCAACAAC others(17): Show TCAACAACAACAACAACAACAACAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0162 a0002c0003t0002g0162	1	342	0.0029	24	c.148 others(43): Show c.1488+1485_1488+1508dupCAACAACAACAACAACAACAACAA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45513217	A A	ATACATAT others(17): Show ATACATATAATATATACATATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(204): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0008 others(7): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0002c0005 a0002c0012 a0005c0019 a0006c0018 a0007c0017	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 a0001c0008t0001 a0001c0010t0001 a0001c0011t0001 a0002c0005t0001 a0002c0012t0001 a0005c0019t0001 a0006c0018t0001 a0007c0017t0001	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0041 others(201): Show a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0239 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0006g0064 a0001c0001t0008g0051 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0007g0305 a0001c0002t0009g0279 a0001c0008t0001g0042 a0001c0008t0001g0121 a0001c0010t0001g0128 a0001c0011t0001g0246 a0002c0005t0001g0313 a0002c0012t0001g0103 a0005c0019t0001g0070 a0006c0018t0001g0309 a0007c0017t0001g0285	207	342	0.6053	24	c.180 others(43): Show c.1809+1365_1809+1366insCATATAATATATACATATAAATTA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45513222	T T	TATAATAT others(17): Show TATAATATATACATATAAATTATAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0194 a0001c0013t0004g0194	1	342	0.0029	24	c.180 others(43): Show c.1809+1371_1809+1372insATATATACATATAAATTATACATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45513374	C C	CATATAAT others(17): Show CATATAATATATACATATAAATTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG02451.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0146 a0001c0002t0001g0147	2	342	0.0059	24	c.180 others(43): Show c.1809+1522_1809+1545dupTATAATATATACATATAAATTATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45513400	C C	CATAATAT others(17): Show CATAATATATACATATAAATCATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18977.hp2 NA19084.hp1 HG02145.hp2 NA18977.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0281 a0001c0002t0001g0312 a0001c0002t0001g0204 a0001c0002t0001g0281 a0001c0002t0001g0312	3	342	0.0088	24	c.180 others(43): Show c.1809+1549_1809+1550insATATATACATATAAATCATATATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG4_chr16_70475571_70528554	70483206	A A	GTCTCCCC others(17): Show GTCTCCCCACCCCTTCCCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02109.hp1 others(27): Show HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 a0001c0002t0002 a0001c0003t0001 a0001c0003t0004	a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0007 others(26): Show a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0020 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0032 a0001c0003t0004g0127	30	354	0.0848	24	c.182 others(37): Show c.1828-385delTinsGGAGAGAGGGAAGGGGTGGGGAGAC	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	14/18			chr16	TogoVar
COG6_chr13_39650662_39757628	39651677	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	370	0.0027	24	c.-40 others(35): Show c.-4050_-4049insTTTTTTTTTTTTTTTTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		3984		chr13	TogoVar
COG7_chr16_23383493_23458189	23409088	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03017.hp2 NA18747.hp2 HG02258.hp2 HG03017.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0105 a0002c0002t0003g0118 a0002c0002t0003g0123 a0002c0002t0003g0105 a0002c0002t0003g0118 a0002c0002t0003g0123	3	272	0.0110	24	c.147 others(43): Show c.1475+1206_1475+1207insGCGCGCACACACACACACACACAC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COL11A1_chr1_102871473_103113522	102878475	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0092 a0004c0007t0001g0092	1	184	0.0054	24	c.527 others(41): Show c.5275-334_5275-311dupATATATATATATATATATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	66/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	102976289	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0102 a0001c0016t0001g0102	1	184	0.0054	24	c.275 others(43): Show c.2755-1430_2755-1407dupAAAAAAAAAAAAAAAAAAAAAAAA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	35/66			chr1	TogoVar
COL12A1_chr6_75079326_75211053	75140655	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0007 a0001c0041t0007	a0001c0041t0007g0146 a0001c0041t0007g0146	1	206	0.0049	24	c.495 others(43): Show c.4957+1376_4957+1377insTTTTTTTTTTTTTTTTTTTTTTTT	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	27/65			chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208124	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0003 a0013c0024t0003	a0013c0024t0003g0118 a0013c0024t0003g0118	1	206	0.0049	24	c.-23 others(35): Show c.-2384_-2383insGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2072		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208152	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0007 a0001c0046t0007	a0001c0046t0007g0133 a0001c0046t0007g0133	1	206	0.0049	24	c.-24 others(35): Show c.-2412_-2411insAAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2100		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208154	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02717.hp1 HG02886.hp2 others(1): Show HG01069.hp1 HG02717.hp1 HG02886.hp2 HG03195.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0019 a0002c0006 a0005c0008 others(1): Show a0001c0019 a0002c0006 a0005c0008 a0009c0010	a0001c0019t0005 a0002c0006t0014 a0005c0008t0006 others(1): Show a0001c0019t0005 a0002c0006t0014 a0005c0008t0006 a0009c0010t0005	a0001c0019t0005g0048 a0002c0006t0014g0050 a0005c0008t0006g0128 others(1): Show a0001c0019t0005g0048 a0002c0006t0014g0050 a0005c0008t0006g0128 a0009c0010t0005g0127	4	206	0.0194	24	c.-24 others(35): Show c.-2414_-2413insAAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2102		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208156	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG02630.hp1 NA18966.hp1 HG01069.hp2 HG02630.hp1 NA18966.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0038 a0005c0013 a0001c0001 a0001c0038 a0005c0013	a0001c0001t0001 a0001c0038t0004 a0005c0013t0006 a0001c0001t0001 a0001c0038t0004 a0005c0013t0006	a0001c0001t0001g0046 a0001c0038t0004g0023 a0005c0013t0006g0148 a0001c0001t0001g0046 a0001c0038t0004g0023 a0005c0013t0006g0148	3	206	0.0146	24	c.-24 others(35): Show c.-2416_-2415insAAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2104		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208160	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0053 a0002c0002t0002g0053	1	206	0.0049	24	c.-24 others(35): Show c.-2420_-2419insAAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2108		chr6	TogoVar

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