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
CNTNAP2_chr7_146111801_148425998	148122867	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG03139.hp1 HG02451.hp2 HG02976.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0015 a0001c0001 a0001c0008 a0001c0015	a0001c0001t0002 a0001c0008t0001 a0001c0015t0001 a0001c0001t0002 a0001c0008t0001 a0001c0015t0001	a0001c0001t0002g0006 a0001c0008t0001g0025 a0001c0015t0001g0011 a0001c0001t0002g0006 a0001c0008t0001g0025 a0001c0015t0001g0011	3	40	0.0750	11	c.255 others(30): Show c.2554+4587_2554+4588insAAGAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148157571	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG02451.hp1 others(16): Show HG00735.hp1 HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02717.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03540.hp1 HG03540.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0015 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0004 a0001c0003t0011 a0001c0003t0020 a0001c0003t0023 a0001c0005t0008 a0001c0006t0009 a0001c0006t0014 a0001c0009t0019 a0001c0010t0002 a0001c0015t0001 a0001c0018t0002	a0001c0001t0001g0003 a0001c0001t0002g0006 a0001c0001t0006g0009 others(16): Show a0001c0001t0001g0003 a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0002g0040 a0001c0002t0010g0002 a0001c0003t0004g0029 a0001c0003t0011g0023 a0001c0003t0020g0017 a0001c0003t0023g0030 a0001c0005t0008g0005 a0001c0006t0009g0028 a0001c0006t0014g0033 a0001c0009t0019g0027 a0001c0010t0002g0014 a0001c0015t0001g0011 a0001c0018t0002g0012	19	40	0.4750	11	c.277 others(30): Show c.2773+9867_2773+9877dupAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148157586	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0021 a0004c0014t0021	a0004c0014t0021g0022 a0004c0014t0021g0022	1	40	0.0250	11	c.277 others(30): Show c.2773+9877_2773+9878insAAAAAAAAAAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	17/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148158222	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02896.hp2 others(16): Show HG02451.hp1 HG02451.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0015 a0001c0018	a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 others(14): Show a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0004 a0001c0003t0020 a0001c0003t0023 a0001c0004t0003 a0001c0004t0005 a0001c0006t0009 a0001c0008t0001 a0001c0009t0019 a0001c0010t0002 a0001c0013t0003 a0001c0015t0001 a0001c0018t0002	a0001c0001t0002g0006 a0001c0001t0012g0034 a0001c0002t0001g0007 others(16): Show a0001c0001t0002g0006 a0001c0001t0012g0034 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0002g0040 a0001c0002t0010g0002 a0001c0003t0004g0029 a0001c0003t0020g0017 a0001c0003t0023g0030 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0005g0004 a0001c0006t0009g0028 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0010t0002g0014 a0001c0013t0003g0039 a0001c0015t0001g0011 a0001c0018t0002g0012	19	40	0.4750	11	c.277 others(32): Show c.2773+10522_2773+10532dupTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148253036	A A	AGATAGAC others(4): Show AGATAGACAGAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	11	c.338 others(32): Show c.3382-13991_3382-13990insCAGATGATAGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148283255	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG01891.hp1 HG02486.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0014 a0001c0003 a0004c0014	a0001c0003t0011 a0004c0014t0021 a0001c0003t0011 a0004c0014t0021	a0001c0003t0011g0023 a0004c0014t0021g0022 a0001c0003t0011g0023 a0004c0014t0021g0022	2	40	0.0500	11	c.347 others(32): Show c.3475+16131_3475+16132insGAAAGAAAGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148296545	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp1 HG03098.hp2 others(2): Show HG01891.hp2 HG02922.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 others(2): Show a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0003c0007t0017	a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0002t0001g0021 others(2): Show a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0002t0001g0021 a0001c0002t0002g0040 a0003c0007t0017g0031	5	40	0.1250	11	c.347 others(32): Show c.3475+29432_3475+29442dupAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148301306	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0016 a0001c0011t0016	a0001c0011t0016g0019 a0001c0011t0016g0019	1	40	0.0250	11	c.347 others(32): Show c.3475+34181_3475+34182insAAATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148324794	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	40	0.0250	11	c.347 others(32): Show c.3475+57671_3475+57681dupAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148351744	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0039 a0001c0013t0003g0039	1	40	0.0250	11	c.347 others(32): Show c.3476-31899_3476-31889dupAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148417027	A A	ATTTCCAG others(4): Show ATTTCCAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02717.hp2 others(8): Show HG02451.hp1 HG02486.hp1 HG02717.hp2 HG02886.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0015	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0003t0013 a0001c0005t0008 a0001c0008t0001 a0001c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0007g0018 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0003t0013g0010 a0001c0005t0008g0005 a0001c0008t0001g0025 a0001c0015t0001g0011	11	40	0.2750	11	c.14 others(22): Show c.1412_*1422dupTTTCCAGAAAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	24/24	1423	INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76460753	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0065 a0001c0001t0003g0066	2	274	0.0073	11	c.133 others(30): Show c.1334-1192_1334-1182dupAAAAAAAAAAA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460771	A A	ATAAATAA others(4): Show ATAAATAAATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02922.hp2 others(3): Show HG01109.hp2 HG02280.hp2 HG02922.hp2 HG02965.hp2 HG03471.hp2 NA18906.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0007 a0002c0002 a0003c0003 a0004c0007	a0002c0002t0002 a0003c0003t0005 a0004c0007t0002 others(2): Show a0002c0002t0002 a0003c0003t0005 a0004c0007t0002 a0004c0007t0008 a0004c0007t0026	a0002c0002t0002g0201 a0003c0003t0005g0047 a0003c0003t0005g0266 others(3): Show a0002c0002t0002g0201 a0003c0003t0005g0047 a0003c0003t0005g0266 a0004c0007t0002g0199 a0004c0007t0008g0238 a0004c0007t0026g0073	6	274	0.0219	11	c.133 others(30): Show c.1334-1185_1334-1184insTAAATAAATAT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23			chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124084924	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02451.hp1 others(11): Show HG01891.hp1 HG02145.hp1 HG02451.hp1 HG02723.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03704.hp1 NA18906.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0019	a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0002g0048 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0002g0048 a0001c0001t0007g0039 a0001c0001t0017g0012 a0001c0002t0001g0016 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0002g0031 a0001c0002t0004g0044 a0001c0002t0004g0047 a0001c0002t0005g0045 a0001c0002t0007g0009 a0001c0002t0019g0051	14	64	0.2188	11	c.82+ others(28): Show c.82+59197_82+59207dupTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124139019	C C	CAGGACTC others(4): Show CAGGACTCAGGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	64	0.0156	11	c.83- others(28): Show c.83-82682_83-82681insCTCAGGAAGGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124176842	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	64	0.0156	11	c.83- others(28): Show c.83-44853_83-44843dupTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124419152	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp2 HG02970.hp2 HG02717.hp1 HG02886.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0001 a0001c0002t0010 a0001c0001t0013 a0001c0002t0001 a0001c0002t0010	a0001c0001t0013g0041 a0001c0002t0001g0063 a0001c0002t0010g0032 a0001c0001t0013g0041 a0001c0002t0001g0063 a0001c0002t0010g0032	3	64	0.0469	11	c.529 others(28): Show c.529+1572_529+1573insCAAAAAAAAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124419153	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01261.hp2 HG02145.hp1 others(4): Show HG01070.hp2 HG01261.hp2 HG02145.hp1 HG02257.hp1 HG03139.hp1 NA18906.hp1 NA20300.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0007 others(1): Show a0001c0001 a0001c0002 a0003c0007 a0005c0005	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0002t0005 a0003c0007t0001 a0005c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0014g0037 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0014g0037 a0001c0002t0001g0062 a0001c0002t0005g0045 a0003c0007t0001g0017 a0005c0005t0001g0008	7	64	0.1094	11	c.529 others(28): Show c.529+1565_529+1575dupAAAAAAAAACA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124451049	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	64	0.0156	11	c.918 others(28): Show c.918+4112_918+4113insTATATATATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	6/23			chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655996	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	64	0.0156	11	c.207 others(30): Show c.2077+8040_2077+8041insGAAAGAAAGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124674507	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	64	0.0156	11	c.207 others(32): Show c.2077+26550_2077+26551insTCTTTCTTTCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706823	A A	AGAAGGGG others(4): Show AGAAGGGGAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	64	0.0156	11	c.207 others(32): Show c.2078-40405_2078-40404insAAGGGGAAAGG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124713318	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0029 a0001c0002t0011g0029	1	64	0.0156	11	c.207 others(32): Show c.2078-33911_2078-33910insTTTCTTTCTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23			chr2	TogoVar
CNTROB_chr17_7927206_7954920	7942787	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0188 a0007c0008t0007g0188	1	402	0.0025	11	c.131 others(28): Show c.1312-582_1312-572dupTTTTTTTTTTT	CNTROB	ENSG00000170037.14	transcript	ENST00000563694.6	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
COA1_chr7_43634257_43734523	43691269	G G	GAAAAGAA others(4): Show GAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01978.hp2 HG02015.hp1 others(8): Show HG01081.hp2 HG01978.hp2 HG02015.hp1 HG03041.hp2 NA18983.hp1 NA18987.hp1 NA19062.hp1 NA19064.hp1 NA19082.hp1 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(8): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0228	11	384	0.0287	11	c.-39 others(30): Show c.-39+38159_-39+38160insTCTTTTCTTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691377	G G	GAGGAGGA others(4): Show GAGGAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	384	0.0026	11	c.-39 others(30): Show c.-39+38051_-39+38052insTCCTTCCTCCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43710375	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	384	0.0026	11	c.-39 others(30): Show c.-39+19053_-39+19054insATATATATATT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234370412	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02080.hp1 HG02129.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0051 a0001c0001t0001g0026 a0001c0001t0001g0051	3	406	0.0074	11	c.-30 others(22): Show c.-3055_-3054insTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3043		chr1	TogoVar
COBLL1_chr2_164675188_164846823	164801438	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	212	0.0047	11	c.41+ others(28): Show c.41+39707_41+39717dupTTTTTTTTTTT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164803582	T T	TAAAATAA others(4): Show TAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01109.hp1 others(14): Show HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp2 HG01256.hp2 HG01516.hp1 HG01934.hp1 HG01952.hp1 HG02083.hp2 HG02293.hp1 HG02300.hp2 HG02615.hp1 HG02922.hp2 HG02965.hp1 HG03490.hp2 NA18939.hp2 NA18966.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0018	a0001c0001 a0001c0002 a0001c0025 others(3): Show a0001c0001 a0001c0002 a0001c0025 a0003c0004 a0005c0020 a0018c0018	a0001c0001t0001 a0001c0001t0007 a0001c0002t0010 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0010 a0001c0002t0046 a0001c0025t0037 a0003c0004t0006 a0003c0004t0014 a0005c0020t0031 a0018c0018t0001	a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 others(14): Show a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0007g0055 a0001c0002t0010g0017 a0001c0002t0010g0018 a0001c0002t0046g0016 a0001c0025t0037g0069 a0003c0004t0006g0062 a0003c0004t0006g0064 a0003c0004t0006g0065 a0003c0004t0006g0067 a0003c0004t0014g0059 a0005c0020t0031g0060 a0018c0018t0001g0054	17	212	0.0802	11	c.41+ others(28): Show c.41+37573_41+37574insTATTTTATTTT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51018891	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03654.hp1 HG06807.hp1 others(2): Show HG02683.hp1 HG03654.hp1 HG06807.hp1 NA18612.hp1 NA18964.hp2	a0002 a0003 a0028 a0002 a0003 a0028	a0002c0003 a0003c0001 a0028c0043 a0002c0003 a0003c0001 a0028c0043	a0002c0003t0001 a0003c0001t0001 a0028c0043t0001 a0002c0003t0001 a0003c0001t0001 a0028c0043t0001	a0002c0003t0001g0157 a0003c0001t0001g0009 a0003c0001t0001g0030 others(2): Show a0002c0003t0001g0157 a0003c0001t0001g0009 a0003c0001t0001g0030 a0003c0001t0001g0216 a0028c0043t0001g0201	5	230	0.0217	11	c.376 others(30): Show c.3769-1334_3769-1324dupTTTTTTTTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0019 a0019	a0019c0051 a0019c0051	a0019c0051t0002 a0019c0051t0002	a0019c0051t0002g0028 a0019c0051t0002g0028	1	230	0.0044	11	c.958 others(30): Show c.958-12931_958-12921dupAAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTGTT others(4): Show GTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18942.hp1 NA18949.hp2 others(8): Show HG01099.hp2 NA18942.hp1 NA18949.hp2 NA18961.hp2 NA18965.hp2 NA18991.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0001c0001t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0092 a0001c0001t0001g0156 a0001c0001t0001g0291 others(8): Show a0001c0001t0001g0092 a0001c0001t0001g0156 a0001c0001t0001g0291 a0001c0001t0001g0331 a0001c0001t0001g0354 a0001c0001t0005g0177 a0002c0002t0001g0103 a0002c0002t0001g0150 a0002c0002t0001g0290 a0002c0002t0001g0356 a0002c0002t0001g0359	11	478	0.0230	11	c.629 others(28): Show c.629+1390_629+1391insGTTTTTTTTTT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01243.hp2 HG02109.hp1 others(1): Show HG00609.hp1 HG01243.hp2 HG02109.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0260 a0001c0001t0001g0312 others(1): Show a0001c0001t0001g0073 a0001c0001t0001g0260 a0001c0001t0001g0312 a0001c0001t0001g0368	4	478	0.0084	11	c.629 others(28): Show c.629+1403_629+1413dupTTTTTTTTTTT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COCH_chr14_30869559_30895618	30882134	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	478	0.0021	11	c.629 others(28): Show c.629+1410_629+1411insGTTTTTTTTTT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COCH_chr14_30869559_30895618	30895053	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01257.hp2 NA20805.hp2 HG01069.hp1 HG01257.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0101 a0001c0001t0002g0235 a0002c0002t0002g0018 a0001c0001t0002g0101 a0001c0001t0002g0235 a0002c0002t0002g0018	3	478	0.0063	11	c.52 others(22): Show c.5262_*5263insAAAAAAAAAAA	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding		4436		chr14	TogoVar
COG1_chr17_73188055_73213507	73207092	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01884.hp1 HG02040.hp2 others(17): Show HG01169.hp1 HG01884.hp1 HG02040.hp2 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03195.hp1 HG03491.hp2 NA18948.hp2 NA18968.hp1 NA18979.hp1 NA18982.hp2 NA19043.hp2 NA19056.hp1 NA19091.hp2	a0002 a0002	a0002c0001 a0002c0010 a0002c0001 a0002c0010	a0002c0001t0001 a0002c0010t0001 a0002c0001t0001 a0002c0010t0001	a0002c0001t0001g0004 a0002c0001t0001g0029 a0002c0001t0001g0051 others(5): Show a0002c0001t0001g0004 a0002c0001t0001g0029 a0002c0001t0001g0051 a0002c0001t0001g0056 a0002c0001t0001g0061 a0002c0001t0001g0106 a0002c0001t0001g0108 a0002c0010t0001g0042	20	428	0.0467	11	c.273 others(26): Show c.2730-77_2730-67dupAAAAAAAAAAA	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COG3_chr13_45459939_45541701	45486338	A A	AGGGAGAG others(4): Show AGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00621.hp2 others(26): Show HG00323.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG02080.hp1 HG02165.hp2 HG02602.hp2 HG02735.hp1 HG02818.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp2 NA18945.hp1 NA18955.hp2 NA18957.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18991.hp1 NA19001.hp1 NA19001.hp2 NA19010.hp1 NA19067.hp1 NA19077.hp2 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0010 a0001c0001 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0001t0008 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0008t0001 a0001c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0048 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0008g0051 a0001c0008t0001g0042 a0001c0008t0001g0121 a0001c0010t0001g0128	29	342	0.0848	11	c.844 others(26): Show c.844-157_844-156insGGGAGAGGGAG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22			chr13	TogoVar
COG3_chr13_45459939_45541701	45489262	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG00738.hp1 others(49): Show HG00544.hp1 HG00642.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp2 HG02559.hp1 HG02559.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03486.hp2 HG03490.hp2 HG03579.hp2 HG04204.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18966.hp2 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18991.hp1 NA18992.hp1 NA18995.hp1 NA19011.hp1 NA19030.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19080.hp1 NA19084.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 a0003c0006t0004	a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0067 others(48): Show a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0239 a0001c0002t0001g0009 a0001c0002t0001g0147 a0001c0002t0001g0204 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0252 a0001c0002t0001g0257 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0302 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0311 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0323 a0001c0002t0001g0325 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0007g0305 a0003c0006t0004g0193 a0003c0006t0004g0195 a0003c0006t0004g0199 a0003c0006t0004g0201	52	342	0.1521	11	c.925 others(28): Show c.925-1645_925-1635dupAAAAAAAAAAA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45525634	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02922.hp1 NA19012.hp2 HG01981.hp1 HG02922.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0016 a0001c0001 a0002c0003 a0002c0016	a0001c0001t0001 a0002c0003t0002 a0002c0016t0003 a0001c0001t0001 a0002c0003t0002 a0002c0016t0003	a0001c0001t0001g0122 a0002c0003t0002g0180 a0002c0016t0003g0156 a0001c0001t0001g0122 a0002c0003t0002g0180 a0002c0016t0003g0156	3	342	0.0088	11	c.223 others(28): Show c.2230+591_2230+601dupTTTTTTTTTTT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45526076	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	342	0.0029	11	c.223 others(30): Show c.2230+1045_2230+1055dupTTTTTTTTTTT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG4_chr16_70475571_70528554	70504609	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02258.hp1 others(11): Show HG01891.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02647.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 others(11): Show a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0032 a0001c0003t0001g0067 a0001c0003t0001g0086 a0001c0003t0001g0135 a0001c0003t0001g0136	14	354	0.0396	11	c.106 others(30): Show c.1062-3529_1062-3519dupTTTTTTTTTTT	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	8/18			chr16	TogoVar
COG4_chr16_70475571_70528554	70506593	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	354	0.0028	11	c.106 others(30): Show c.1061+1802_1061+1812dupTTTTTTTTTTT	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	8/18			chr16	TogoVar
COG6_chr13_39650662_39757628	39651677	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01169.hp1 HG01258.hp1 others(9): Show HG00280.hp1 HG01169.hp1 HG01258.hp1 HG01496.hp1 HG02074.hp2 HG02809.hp1 HG03688.hp2 HG03704.hp2 HG04115.hp2 NA18959.hp1 NA19001.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0147 others(9): Show a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0003g0034 a0001c0001t0003g0198	12	370	0.0324	11	c.-40 others(22): Show c.-4050_-4049insTTTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		3984		chr13	TogoVar
COG6_chr13_39650662_39757628	39684243	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG00741.hp2 others(39): Show HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01168.hp2 HG01255.hp1 HG01358.hp2 HG01891.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02293.hp2 HG02572.hp2 HG02970.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp2 HG04199.hp1 NA18747.hp2 NA18939.hp1 NA18946.hp2 NA18949.hp2 NA18955.hp2 NA18964.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18997.hp2 NA19009.hp1 NA19010.hp1 NA19043.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19076.hp1 NA19080.hp2 NA19084.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0012 others(3): Show a0001c0001 a0001c0006 a0001c0012 a0002c0002 a0002c0007 a0004c0004	a0001c0001t0003 a0001c0006t0003 a0001c0012t0003 others(6): Show a0001c0001t0003 a0001c0006t0003 a0001c0012t0003 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0007t0002 a0004c0004t0002 a0004c0004t0007	a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 others(35): Show a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0003g0207 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0006t0003g0040 a0001c0006t0003g0041 a0001c0012t0003g0073 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0309 a0002c0002t0002g0349 a0002c0002t0002g0356 a0002c0002t0004g0216 a0002c0002t0006g0321 a0002c0007t0002g0300 a0004c0004t0002g0256 a0004c0004t0007g0253	42	370	0.1135	11	c.788 others(28): Show c.788+1994_788+2004dupTTTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39730773	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02293.hp1 HG00642.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0190 a0001c0001t0001g0191	2	370	0.0054	11	c.182 others(30): Show c.1826+3241_1826+3251dupAAAAAAAAAAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG8_chr16_69321428_69344564	69323943	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0038 a0001c0002t0017g0038	1	360	0.0028	11	c.52 others(22): Show c.5262_*5263insTTTTTTTTTTT	COG8	ENSG00000213380.16	transcript	ENST00000306875.10	protein_coding		2484		chr16	TogoVar
COIL_chr17_56933199_56966050	56935080	C C	CAAATACA others(4): Show CAAATACAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02451.hp1 others(11): Show HG01884.hp1 HG02257.hp1 HG02451.hp1 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0026 a0001c0001t0002g0042 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0166 a0001c0001t0002g0168	14	418	0.0335	11	c.39 others(22): Show c.3990_*3991insTTTTTGTATTT	COIL	ENSG00000121058.5	transcript	ENST00000240316.5	protein_coding		3118		chr17	TogoVar
COL11A1_chr1_102871473_103113522	102967227	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp1 NA18985.hp1 others(1): Show HG00735.hp2 HG01884.hp1 NA18985.hp1 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0005 a0001c0005t0012 a0001c0002t0003 a0001c0005t0005 a0001c0005t0012	a0001c0002t0003g0063 a0001c0005t0005g0072 a0001c0005t0005g0080 others(1): Show a0001c0002t0003g0063 a0001c0005t0005g0072 a0001c0005t0005g0080 a0001c0005t0012g0077	4	184	0.0217	11	c.286 others(30): Show c.2863-1698_2863-1688dupAAAAAAAAAAA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	37/66			chr1	TogoVar
COL13A1_chr10_69796906_69964144	69804809	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	324	0.0031	11	c.294 others(28): Show c.294+2115_294+2125dupAAAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar

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