Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CELF4_chr18_37238040_37570798	37423064	G G	GCACACA GCACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02109.hp1 HG02965.hp2 others(7): Show HG00438.hp2 HG02109.hp1 HG02965.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03654.hp1 HG03834.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0025 a0001c0002t0005 a0001c0002t0019 a0001c0002t0037	a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0007g0111 others(7): Show a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0007g0111 a0001c0001t0008g0136 a0001c0001t0008g0137 a0001c0001t0025g0129 a0001c0001t0025g0162 a0001c0002t0005g0067 a0001c0002t0019g0037 a0001c0002t0037g0056	10	184	0.0544	6	c.369 others(25): Show c.369+62455_369+62460dupTGTGTG	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37444617	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp1 NA18906.hp2 others(3): Show HG02109.hp1 HG02818.hp1 NA18906.hp2 NA18971.hp1 NA19005.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0041 a0001c0001t0042 others(2): Show a0001c0001t0011 a0001c0001t0041 a0001c0001t0042 a0001c0002t0005 a0001c0002t0019	a0001c0001t0011g0176 a0001c0001t0041g0062 a0001c0001t0042g0123 others(3): Show a0001c0001t0011g0176 a0001c0001t0041g0062 a0001c0001t0042g0123 a0001c0002t0005g0067 a0001c0002t0005g0174 a0001c0002t0019g0037	6	184	0.0326	6	c.369 others(25): Show c.369+40902_369+40907dupGTGTGT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37470836	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp1 HG01243.hp2 others(7): Show HG01074.hp1 HG01192.hp1 HG01243.hp2 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03516.hp2 HG03704.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0020 a0001c0001t0031 a0001c0002t0001 a0001c0003t0035	a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0002g0151 others(7): Show a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0002g0151 a0001c0001t0003g0100 a0001c0001t0004g0042 a0001c0001t0006g0041 a0001c0001t0020g0153 a0001c0001t0031g0034 a0001c0002t0001g0147 a0001c0003t0035g0113	10	184	0.0544	6	c.369 others(25): Show c.369+14683_369+14688dupCACACA	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37470890	C C	CAGAGAG CAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG02683.hp2 HG00408.hp1 HG00438.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0001 a0001c0001t0002 a0001c0001t0017	a0001c0001t0001g0168 a0001c0001t0002g0109 a0001c0001t0017g0021 a0001c0001t0001g0168 a0001c0001t0002g0109 a0001c0001t0017g0021	3	184	0.0163	6	c.369 others(25): Show c.369+14629_369+14634dupCTCTCT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37522131	A A	ATGAATG ATGAATG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG03041.hp1 others(1): Show HG02486.hp1 HG02622.hp2 HG03041.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0023 a0001c0001t0039 others(1): Show a0001c0001t0012 a0001c0001t0023 a0001c0001t0039 a0001c0002t0008	a0001c0001t0012g0032 a0001c0001t0023g0121 a0001c0001t0039g0122 others(1): Show a0001c0001t0012g0032 a0001c0001t0023g0121 a0001c0001t0039g0122 a0001c0002t0008g0119	4	184	0.0217	6	c.287 others(25): Show c.287-36525_287-36524insCATTCA	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37546390	G G	GCACACA GCACACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02572.hp2 others(1): Show HG02257.hp1 HG02280.hp1 HG02572.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 others(1): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0026	a0001c0001t0004g0014 a0001c0001t0014g0007 a0001c0001t0015g0019 others(1): Show a0001c0001t0004g0014 a0001c0001t0014g0007 a0001c0001t0015g0019 a0001c0001t0026g0022	4	184	0.0217	6	c.286 others(25): Show c.286+18960_286+18965dupTGTGTG	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37558806	C C	CGTGTGT CGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02258.hp1 HG02809.hp1 others(3): Show HG01934.hp1 HG02258.hp1 HG02809.hp1 HG03209.hp1 HG03516.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0024 a0001c0001t0033	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0152 others(3): Show a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0152 a0001c0001t0008g0130 a0001c0001t0024g0049 a0001c0001t0033g0164	6	184	0.0326	6	c.286 others(23): Show c.286+6544_286+6549dupACACAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12			chr18	TogoVar
CELF5_chr19_3219661_3302076	3226440	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00609.hp1 others(22): Show HG00423.hp2 HG00438.hp2 HG00609.hp1 HG01081.hp1 HG01081.hp2 HG01256.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02165.hp1 HG02486.hp1 HG02683.hp2 HG02922.hp1 HG03486.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp2 NA18522.hp2 NA18951.hp2 NA18970.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0010t0005	a0001c0001t0001g0024 a0001c0001t0005g0021 a0001c0001t0006g0015 others(22): Show a0001c0001t0001g0024 a0001c0001t0005g0021 a0001c0001t0006g0015 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0002g0025 a0001c0002t0002g0030 a0001c0002t0002g0049 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0022 a0001c0002t0003g0029 a0001c0002t0004g0031 a0001c0002t0005g0027 a0001c0002t0005g0035 a0001c0002t0005g0048 a0001c0010t0005g0252	25	262	0.0954	6	c.259 others(23): Show c.259+1473_259+1478dupCACACA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3228875	C C	CGTGTGT CGTGTGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03704.hp1 NA18943.hp1 others(1): Show HG02300.hp1 HG03704.hp1 NA18943.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0160 a0001c0001t0001g0230 a0001c0001t0003g0149 others(1): Show a0001c0001t0001g0160 a0001c0001t0001g0230 a0001c0001t0003g0149 a0001c0001t0005g0240	4	262	0.0153	6	c.259 others(23): Show c.259+3912_259+3917dupGTGTGT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3228915	T T	TGTGTGC TGTGTGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03139.hp1 HG03579.hp1 others(4): Show HG02717.hp1 HG03139.hp1 HG03579.hp1 HG03834.hp1 HG04228.hp1 NA19030.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0122 others(4): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0005g0087 a0001c0002t0001g0026 a0001c0002t0001g0046	7	262	0.0267	6	c.259 others(23): Show c.259+3917_259+3918insGTGTGC	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12			chr19	TogoVar
CELF5_chr19_3219661_3302076	3289681	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01358.hp2 HG01934.hp2 others(6): Show HG01261.hp2 HG01358.hp2 HG01934.hp2 HG02071.hp2 HG02083.hp1 HG04184.hp2 HG04228.hp2 NA19087.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005	a0001c0001t0001g0146 a0001c0001t0004g0071 a0001c0001t0004g0129 others(6): Show a0001c0001t0001g0146 a0001c0001t0004g0071 a0001c0001t0004g0129 a0001c0001t0005g0007 a0001c0001t0005g0072 a0001c0001t0005g0125 a0001c0002t0001g0032 a0001c0002t0004g0040 a0001c0002t0005g0093	9	262	0.0344	6	c.118 others(23): Show c.1187-521_1187-516dupAAAAAA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3299512	C C	CTCTTCT CTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01993.hp1 HG02280.hp2 others(3): Show HG01261.hp1 HG01993.hp1 HG02280.hp2 HG03195.hp1 NA18955.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0142 a0001c0001t0002g0209 a0001c0001t0002g0213 others(3): Show a0001c0001t0001g0142 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0244 a0001c0001t0003g0067 a0001c0001t0003g0111	6	262	0.0229	6	c.27 others(17): Show c.2795_*2796insTCTTCT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2437		chr19	TogoVar
CELF5_chr19_3219661_3302076	3299515	C C	CTCTTCT CTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02602.hp2 HG02615.hp2 others(6): Show HG01978.hp2 HG02602.hp2 HG02615.hp2 HG03669.hp1 HG03669.hp2 NA18971.hp2 NA18973.hp2 NA18994.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0057 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0230 a0001c0001t0002g0130 a0001c0002t0003g0029	9	262	0.0344	6	c.27 others(17): Show c.2798_*2799insTCTTCT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2440		chr19	TogoVar
CELSR1_chr22_46356174_46542620	46385975	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp2 HG02486.hp1 others(8): Show HG01109.hp1 HG02258.hp2 HG02486.hp1 HG02615.hp1 HG02976.hp2 HG03195.hp2 HG03471.hp1 HG03471.hp2 NA19030.hp2 NA19043.hp2 NA20300.hp1	a0010 a0013 a0015 others(8): Show a0010 a0013 a0015 a0020 a0026 a0029 a0031 a0032 a0035 a0046 a0047	a0010c0069 a0013c0010 a0015c0045 others(8): Show a0010c0069 a0013c0010 a0015c0045 a0020c0043 a0026c0038 a0029c0037 a0031c0022 a0032c0018 a0035c0057 a0046c0065 a0047c0063	a0010c0069t0005 a0013c0010t0001 a0015c0045t0001 others(8): Show a0010c0069t0005 a0013c0010t0001 a0015c0045t0001 a0020c0043t0001 a0026c0038t0008 a0029c0037t0006 a0031c0022t0004 a0032c0018t0002 a0035c0057t0001 a0046c0065t0002 a0047c0063t0003	a0010c0069t0005g0001 a0013c0010t0001g0007 a0015c0045t0001g0062 others(8): Show a0010c0069t0005g0001 a0013c0010t0001g0007 a0015c0045t0001g0062 a0020c0043t0001g0052 a0026c0038t0008g0026 a0029c0037t0006g0002 a0031c0022t0004g0039 a0032c0018t0002g0021 a0035c0057t0001g0093 a0046c0065t0002g0101 a0047c0063t0003g0099	11	104	0.1058	6	c.673 others(23): Show c.6739+421_6739+426dupAAAAAA	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	19/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46416100	T T	TTCGCGG TTCGCGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG01496.hp2 HG02055.hp1	a0005 a0042 a0005 a0042	a0005c0019 a0042c0061 a0005c0019 a0042c0061	a0005c0019t0001 a0042c0061t0002 a0005c0019t0001 a0042c0061t0002	a0005c0019t0001g0024 a0042c0061t0002g0097 a0005c0019t0001g0024 a0042c0061t0002g0097	2	104	0.0192	6	c.461 others(25): Show c.4612-4342_4612-4341insCCGCGA	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	5/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46460211	A A	ACACACC ACACACC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02083.hp1 HG02486.hp2 others(5): Show HG00609.hp2 HG02083.hp1 HG02486.hp2 HG03579.hp1 NA18970.hp2 NA19030.hp1 NA19066.hp1 NA19066.hp2	a0001 a0005 a0022 others(2): Show a0001 a0005 a0022 a0041 a0050	a0001c0001 a0001c0044 a0005c0048 others(3): Show a0001c0001 a0001c0044 a0005c0048 a0022c0050 a0041c0066 a0050c0070	a0001c0001t0001 a0001c0044t0001 a0005c0048t0001 others(3): Show a0001c0001t0001 a0001c0044t0001 a0005c0048t0001 a0022c0050t0001 a0041c0066t0002 a0050c0070t0007	a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0077 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0077 a0001c0044t0001g0027 a0005c0048t0001g0080 a0022c0050t0001g0055 a0041c0066t0002g0103 a0050c0070t0007g0003	8	104	0.0769	6	c.418 others(25): Show c.4183+3490_4183+3495dupGGTGTG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	2/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46460211	A A	ACACCCC ACACCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp2 HG02630.hp1 HG02647.hp2	a0044 a0045 a0044 a0045	a0044c0060 a0045c0059 a0044c0060 a0045c0059	a0044c0060t0001 a0045c0059t0001 a0044c0060t0001 a0045c0059t0001	a0044c0060t0001g0095 a0045c0059t0001g0094 a0044c0060t0001g0095 a0045c0059t0001g0094	2	104	0.0192	6	c.418 others(25): Show c.4183+3495_4183+3496insGGGGTG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	2/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46474788	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03471.hp2 HG03579.hp1 others(2): Show HG00621.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp2	a0001 a0032 a0040 others(2): Show a0001 a0032 a0040 a0041 a0049	a0001c0001 a0032c0018 a0040c0067 others(2): Show a0001c0001 a0032c0018 a0040c0067 a0041c0066 a0049c0062	a0001c0001t0001 a0032c0018t0002 a0040c0067t0009 others(2): Show a0001c0001t0001 a0032c0018t0002 a0040c0067t0009 a0041c0066t0002 a0049c0062t0013	a0001c0001t0001g0063 a0032c0018t0002g0021 a0040c0067t0009g0104 others(2): Show a0001c0001t0001g0063 a0032c0018t0002g0021 a0040c0067t0009g0104 a0041c0066t0002g0103 a0049c0062t0013g0100	5	104	0.0481	6	c.354 others(27): Show c.3545-10449_3545-10444dupAAAAAA	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46505261	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG00741.hp2 others(15): Show HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01255.hp2 HG02027.hp1 HG02027.hp2 HG02145.hp2 HG02486.hp1 HG02615.hp2 HG02647.hp1 HG02922.hp1 HG02922.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp2 NA18612.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0007 a0013 a0026 a0032 a0040 a0043 a0047 a0048	a0001c0001 a0001c0002 a0001c0006 others(11): Show a0001c0001 a0001c0002 a0001c0006 a0002c0016 a0002c0051 a0003c0015 a0007c0013 a0013c0010 a0026c0038 a0032c0018 a0040c0067 a0043c0058 a0047c0063 a0048c0064	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0006t0001 a0002c0016t0003 a0002c0051t0003 a0003c0015t0001 a0007c0013t0001 a0013c0010t0001 a0026c0038t0008 a0032c0018t0002 a0040c0067t0009 a0043c0058t0004 a0047c0063t0003 a0048c0064t0001	a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 others(15): Show a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0014g0060 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0006t0001g0064 a0002c0016t0003g0025 a0002c0051t0003g0053 a0003c0015t0001g0022 a0007c0013t0001g0023 a0013c0010t0001g0007 a0026c0038t0008g0026 a0032c0018t0002g0021 a0040c0067t0009g0104 a0043c0058t0004g0096 a0047c0063t0003g0099 a0048c0064t0001g0098	18	104	0.1731	6	c.354 others(27): Show c.3544+28360_3544+28365dupTTTTTT	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CEL_chr9_133056981_133076861	133072536	A A	AAATAAT AAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG03195.hp1 HG03471.hp2 others(2): Show HG02895.hp1 HG03195.hp1 HG03471.hp2 NA20129.hp1 NA20905.hp1	a0019 a0034 a0049 a0019 a0034 a0049	a0019c0014 a0034c0053 a0049c0110 a0019c0014 a0034c0053 a0049c0110	a0019c0014t0001 a0034c0053t0001 a0049c0110t0001 a0019c0014t0001 a0034c0053t0001 a0049c0110t0001	a0019c0014t0001g0017 a0019c0014t0001g0052 a0034c0053t0001g0017 others(1): Show a0019c0014t0001g0017 a0019c0014t0001g0052 a0034c0053t0001g0017 a0049c0110t0001g0095	5	416	0.0120	6	c.77 others(15): Show c.772_*773insAATAAT	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding		676		chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71683553	C C	CAAACTT CAAACTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01123.hp1 others(7): Show HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01168.hp1 HG01515.hp2 HG01517.hp1 HG02615.hp1 HG02698.hp1 HG02886.hp2 HG04204.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0006c0006	a0001c0001t0014 a0001c0001t0024 a0001c0001t0029 others(4): Show a0001c0001t0014 a0001c0001t0024 a0001c0001t0029 a0002c0002t0014 a0004c0003t0014 a0004c0003t0046 a0006c0006t0024	a0001c0001t0014g0149 a0001c0001t0014g0284 a0001c0001t0024g0218 others(7): Show a0001c0001t0014g0149 a0001c0001t0014g0284 a0001c0001t0024g0218 a0001c0001t0029g0013 a0002c0002t0014g0052 a0004c0003t0014g0030 a0004c0003t0014g0158 a0004c0003t0014g0179 a0004c0003t0046g0157 a0006c0006t0024g0289	10	320	0.0313	6	c.16 others(17): Show c.1643_*1644insAAGTTT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	24/24	1643		chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71687462	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01192.hp1 others(29): Show HG01081.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03486.hp2 HG03516.hp2 HG03834.hp1 NA18747.hp2 NA18966.hp2 NA18971.hp2 NA18995.hp2 NA19054.hp2 NA19064.hp2 NA19068.hp1 NA19088.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0011 a0014	a0001c0001 a0001c0013 a0001c0015 others(8): Show a0001c0001 a0001c0013 a0001c0015 a0002c0002 a0002c0007 a0002c0008 a0002c0034 a0003c0012 a0004c0003 a0011c0019 a0014c0028	a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 others(13): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0001c0001t0024 a0001c0001t0027 a0001c0013t0020 a0001c0015t0001 a0002c0002t0001 a0002c0007t0008 a0002c0008t0008 a0002c0034t0001 a0003c0012t0001 a0003c0012t0049 a0004c0003t0006 a0011c0019t0001 a0014c0028t0058	a0001c0001t0001g0304 a0001c0001t0001g0311 a0001c0001t0001g0318 others(29): Show a0001c0001t0001g0304 a0001c0001t0001g0311 a0001c0001t0001g0318 a0001c0001t0008g0061 a0001c0001t0008g0225 a0001c0001t0008g0305 a0001c0001t0020g0062 a0001c0001t0020g0312 a0001c0001t0024g0218 a0001c0001t0027g0151 a0001c0013t0020g0267 a0001c0015t0001g0027 a0001c0015t0001g0176 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0007t0008g0269 a0002c0007t0008g0270 a0002c0007t0008g0274 a0002c0008t0008g0077 a0002c0008t0008g0080 a0002c0008t0008g0085 a0002c0034t0001g0083 a0003c0012t0001g0110 a0003c0012t0001g0111 a0003c0012t0001g0117 a0003c0012t0001g0118 a0003c0012t0049g0096 a0004c0003t0006g0191 a0011c0019t0001g0183 a0014c0028t0058g0254	32	320	0.1000	6	c.385 others(25): Show c.3852-1622_3852-1617dupCACACA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	22/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71692365	A A	ATCTCTC ATCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00735.hp2 others(98): Show HG00140.hp2 HG00639.hp2 HG00735.hp2 HG01106.hp1 HG01109.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18970.hp1 NA18975.hp2 NA18981.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19063.hp2 NA19068.hp2 NA19070.hp2 NA19083.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0016	a0001c0001 a0001c0009 a0001c0013 others(21): Show a0001c0001 a0001c0009 a0001c0013 a0001c0015 a0002c0002 a0002c0007 a0002c0008 a0003c0005 a0003c0012 a0004c0003 a0005c0004 a0005c0017 a0006c0006 a0006c0021 a0006c0033 a0007c0010 a0007c0014 a0007c0024 a0007c0025 a0008c0022 a0009c0016 a0010c0020 a0012c0036 a0016c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0001t0024 a0001c0001t0041 a0001c0001t0043 a0001c0001t0054 a0001c0009t0006 a0001c0013t0006 a0001c0013t0045 a0001c0015t0006 a0002c0002t0002 a0002c0002t0003 a0002c0002t0021 a0002c0002t0026 a0002c0002t0053 a0002c0007t0003 a0002c0007t0006 a0002c0007t0008 a0002c0008t0003 a0002c0008t0006 a0002c0008t0008 a0002c0008t0012 a0002c0008t0044 a0003c0005t0002 a0003c0005t0003 a0003c0005t0021 a0003c0005t0055 a0003c0005t0056 a0003c0012t0002 a0004c0003t0002 a0004c0003t0051 a0005c0004t0022 a0005c0004t0034 a0005c0017t0048 a0006c0006t0009 a0006c0006t0024 a0006c0006t0037 a0006c0021t0009 a0006c0033t0057 a0007c0010t0009 a0007c0010t0028 a0007c0014t0009 a0007c0014t0017 a0007c0014t0035 a0007c0024t0009 a0007c0025t0009 a0008c0022t0036 a0009c0016t0004 a0010c0020t0003 a0010c0020t0012 a0012c0036t0002 a0016c0031t0026	a0001c0001t0001g0103 a0001c0001t0001g0180 a0001c0001t0001g0277 others(98): Show a0001c0001t0001g0103 a0001c0001t0001g0180 a0001c0001t0001g0277 a0001c0001t0001g0288 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0211 a0001c0001t0002g0278 a0001c0001t0002g0294 a0001c0001t0002g0316 a0001c0001t0003g0028 a0001c0001t0003g0130 a0001c0001t0003g0163 a0001c0001t0003g0190 a0001c0001t0003g0193 a0001c0001t0003g0202 a0001c0001t0003g0234 a0001c0001t0003g0262 a0001c0001t0003g0287 a0001c0001t0006g0286 a0001c0001t0006g0290 a0001c0001t0006g0291 a0001c0001t0008g0225 a0001c0001t0008g0305 a0001c0001t0012g0204 a0001c0001t0012g0239 a0001c0001t0012g0263 a0001c0001t0021g0203 a0001c0001t0024g0218 a0001c0001t0041g0224 a0001c0001t0043g0040 a0001c0001t0054g0084 a0001c0009t0006g0251 a0001c0013t0006g0032 a0001c0013t0045g0281 a0001c0015t0006g0219 a0002c0002t0002g0037 a0002c0002t0002g0082 a0002c0002t0003g0065 a0002c0002t0021g0063 a0002c0002t0026g0060 a0002c0002t0053g0075 a0002c0007t0003g0238 a0002c0007t0006g0271 a0002c0007t0008g0270 a0002c0008t0003g0092 a0002c0008t0006g0091 a0002c0008t0008g0080 a0002c0008t0012g0086 a0002c0008t0044g0076 a0003c0005t0002g0095 a0003c0005t0002g0124 a0003c0005t0003g0121 a0003c0005t0021g0097 a0003c0005t0055g0105 a0003c0005t0056g0116 a0003c0012t0002g0070 a0004c0003t0002g0152 a0004c0003t0002g0153 a0004c0003t0002g0171 a0004c0003t0002g0187 a0004c0003t0002g0207 a0004c0003t0051g0210 a0005c0004t0022g0003 a0005c0004t0034g0019 a0005c0017t0048g0292 a0006c0006t0009g0259 a0006c0006t0024g0289 a0006c0006t0037g0276 a0006c0021t0009g0306 a0006c0021t0009g0307 a0006c0033t0057g0025 a0007c0010t0009g0045 a0007c0010t0028g0046 a0007c0010t0028g0047 a0007c0014t0009g0087 a0007c0014t0017g0089 a0007c0014t0035g0093 a0007c0024t0009g0273 a0007c0025t0009g0079 a0008c0022t0036g0280 a0009c0016t0004g0135 a0010c0020t0003g0068 a0010c0020t0012g0051 a0012c0036t0002g0072 a0016c0031t0026g0261	101	320	0.3156	6	c.369 others(25): Show c.3697-2125_3697-2120dupGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	21/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71715625	G G	GATATAT GATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18975.hp2 NA19001.hp2 others(1): Show HG03130.hp2 NA18975.hp2 NA19001.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0013 a0003c0005 a0001c0013 a0003c0005	a0001c0013t0018 a0003c0005t0002 a0003c0005t0013 others(1): Show a0001c0013t0018 a0003c0005t0002 a0003c0005t0013 a0003c0005t0021	a0001c0013t0018g0031 a0003c0005t0002g0124 a0003c0005t0013g0098 others(1): Show a0001c0013t0018g0031 a0003c0005t0002g0124 a0003c0005t0013g0098 a0003c0005t0021g0097	4	320	0.0125	6	c.243 others(23): Show c.2436-542_2436-537dupATATAT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	14/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71719842	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01168.hp1 HG01169.hp1 others(20): Show HG01070.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01258.hp1 HG01261.hp2 HG02055.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp2 NA18954.hp2 NA18962.hp2 NA19240.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0017	a0001c0001 a0001c0013 a0001c0038 others(8): Show a0001c0001 a0001c0013 a0001c0038 a0002c0007 a0002c0008 a0004c0003 a0005c0017 a0006c0037 a0007c0018 a0007c0024 a0017c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0050 a0001c0013t0007 a0001c0013t0045 a0001c0038t0010 a0002c0007t0003 a0002c0007t0006 a0002c0007t0007 a0002c0007t0008 a0002c0008t0008 a0004c0003t0005 a0004c0003t0014 a0005c0017t0048 a0006c0037t0004 a0007c0018t0004 a0007c0018t0038 a0007c0024t0009 a0017c0032t0006	a0001c0001t0001g0285 a0001c0001t0002g0146 a0001c0001t0010g0029 others(20): Show a0001c0001t0001g0285 a0001c0001t0002g0146 a0001c0001t0010g0029 a0001c0001t0014g0284 a0001c0001t0050g0107 a0001c0013t0007g0229 a0001c0013t0045g0281 a0001c0038t0010g0268 a0002c0007t0003g0238 a0002c0007t0006g0271 a0002c0007t0007g0236 a0002c0007t0007g0237 a0002c0007t0008g0269 a0002c0007t0008g0274 a0002c0008t0008g0080 a0004c0003t0005g0192 a0004c0003t0014g0158 a0005c0017t0048g0292 a0006c0037t0004g0235 a0007c0018t0004g0272 a0007c0018t0038g0282 a0007c0024t0009g0273 a0017c0032t0006g0129	23	320	0.0719	6	c.226 others(25): Show c.2268-1769_2268-1764dupTTTTTT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	12/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728193	T T	TTCTCTC TTCTCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp2 NA21309.hp1 HG03209.hp2 HG03225.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0002c0008 a0001c0001 a0002c0007 a0002c0008	a0001c0001t0016 a0002c0007t0006 a0002c0008t0001 a0001c0001t0016 a0002c0007t0006 a0002c0008t0001	a0001c0001t0016g0264 a0002c0007t0006g0271 a0002c0008t0001g0088 a0001c0001t0016g0264 a0002c0007t0006g0271 a0002c0008t0001g0088	3	320	0.0094	6	c.204 others(25): Show c.2049+1646_2049+1651dupGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728273	A A	ATACACG ATACACG	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18944.hp1 NA18961.hp2 others(3): Show HG01943.hp1 NA18944.hp1 NA18961.hp2 NA18983.hp2 NA19009.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0007 a0002c0002t0001 a0002c0007t0007	a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0056 others(3): Show a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0056 a0002c0002t0001g0081 a0002c0002t0001g0150 a0002c0007t0007g0283	6	320	0.0188	6	c.204 others(25): Show c.2049+1571_2049+1572insCGTGTA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728275	A A	ATACACG ATACACG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG03041.hp2 others(1): Show HG02559.hp2 HG02717.hp1 HG03041.hp2 NA19240.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0008 a0002c0008t0013 a0002c0008t0044 a0002c0008t0008 a0002c0008t0013 a0002c0008t0044	a0002c0008t0008g0077 a0002c0008t0008g0080 a0002c0008t0013g0078 others(1): Show a0002c0008t0008g0077 a0002c0008t0008g0080 a0002c0008t0013g0078 a0002c0008t0044g0076	4	320	0.0125	6	c.204 others(25): Show c.2049+1569_2049+1570insCGTGTA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728280	T T	TATATAC TATATAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01928.hp1 HG03490.hp2 others(1): Show HG01175.hp1 HG01928.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0001t0002 a0001c0001t0005 a0001c0001t0019	a0001c0001t0002g0145 a0001c0001t0005g0216 a0001c0001t0019g0136 others(1): Show a0001c0001t0002g0145 a0001c0001t0005g0216 a0001c0001t0019g0136 a0001c0001t0019g0215	4	320	0.0125	6	c.204 others(25): Show c.2049+1564_2049+1565insGTATAT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728815	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02280.hp1 HG02451.hp2 others(17): Show HG01255.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03225.hp2 HG03942.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18989.hp2 NA18990.hp2 NA19030.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0011	a0001c0001 a0002c0002 a0002c0007 others(5): Show a0001c0001 a0002c0002 a0002c0007 a0004c0003 a0007c0010 a0007c0018 a0007c0024 a0011c0019	a0001c0001t0001 a0001c0001t0010 a0001c0001t0018 others(13): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0018 a0002c0002t0001 a0002c0007t0003 a0002c0007t0006 a0002c0007t0007 a0002c0007t0008 a0002c0007t0013 a0004c0003t0001 a0004c0003t0002 a0007c0010t0004 a0007c0018t0004 a0007c0018t0038 a0007c0024t0009 a0011c0019t0001	a0001c0001t0001g0196 a0001c0001t0010g0029 a0001c0001t0018g0226 others(17): Show a0001c0001t0001g0196 a0001c0001t0010g0029 a0001c0001t0018g0226 a0002c0002t0001g0067 a0002c0007t0003g0238 a0002c0007t0006g0271 a0002c0007t0007g0236 a0002c0007t0007g0237 a0002c0007t0007g0283 a0002c0007t0008g0269 a0002c0007t0008g0270 a0002c0007t0008g0274 a0002c0007t0013g0253 a0004c0003t0001g0173 a0004c0003t0002g0171 a0007c0010t0004g0036 a0007c0018t0004g0272 a0007c0018t0038g0282 a0007c0024t0009g0273 a0011c0019t0001g0183	20	320	0.0625	6	c.204 others(25): Show c.2049+1024_2049+1029dupCACACA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71734201	A A	AGTTTTT AGTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02109.hp2 others(13): Show HG01243.hp1 HG02055.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0013 a0001c0038 a0002c0007 others(3): Show a0001c0013 a0001c0038 a0002c0007 a0006c0037 a0007c0018 a0007c0024	a0001c0013t0007 a0001c0013t0020 a0001c0013t0045 others(9): Show a0001c0013t0007 a0001c0013t0020 a0001c0013t0045 a0001c0038t0010 a0002c0007t0003 a0002c0007t0006 a0002c0007t0007 a0002c0007t0008 a0006c0037t0004 a0007c0018t0004 a0007c0018t0038 a0007c0024t0009	a0001c0013t0007g0229 a0001c0013t0020g0267 a0001c0013t0045g0281 others(13): Show a0001c0013t0007g0229 a0001c0013t0020g0267 a0001c0013t0045g0281 a0001c0038t0010g0268 a0002c0007t0003g0238 a0002c0007t0006g0271 a0002c0007t0007g0236 a0002c0007t0007g0237 a0002c0007t0007g0283 a0002c0007t0008g0269 a0002c0007t0008g0270 a0002c0007t0008g0274 a0006c0037t0004g0235 a0007c0018t0004g0272 a0007c0018t0038g0282 a0007c0024t0009g0273	16	320	0.0500	6	c.139 others(23): Show c.1393+599_1393+604dupAAAAAC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	6/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71738245	A A	AACCATG AACCATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp1 HG02148.hp2 HG01099.hp1 HG01981.hp1 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0010 a0002c0002t0001 a0002c0002t0010	a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0010g0073 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0010g0073	3	320	0.0094	6	c.120 others(25): Show c.1204+1812_1204+1817dupCATGGT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	5/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71753710	G G	GATACAA GATACAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01167.hp1 others(25): Show HG01070.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01981.hp2 HG02257.hp2 HG03225.hp1 HG03490.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18953.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18983.hp1 NA18993.hp2 NA19000.hp1 NA19079.hp2 NA20805.hp2	a0005 a0008 a0005 a0008	a0005c0004 a0005c0017 a0008c0011 others(1): Show a0005c0004 a0005c0017 a0008c0011 a0008c0022	a0005c0004t0001 a0005c0004t0007 a0005c0004t0011 others(11): Show a0005c0004t0001 a0005c0004t0007 a0005c0004t0011 a0005c0004t0022 a0005c0004t0023 a0005c0004t0031 a0005c0004t0032 a0005c0004t0033 a0005c0004t0034 a0005c0017t0001 a0005c0017t0048 a0008c0011t0015 a0008c0011t0030 a0008c0022t0036	a0005c0004t0001g0231 a0005c0004t0001g0232 a0005c0004t0001g0233 others(25): Show a0005c0004t0001g0231 a0005c0004t0001g0232 a0005c0004t0001g0233 a0005c0004t0007g0131 a0005c0004t0011g0005 a0005c0004t0011g0006 a0005c0004t0011g0008 a0005c0004t0011g0009 a0005c0004t0011g0010 a0005c0004t0011g0014 a0005c0004t0011g0017 a0005c0004t0011g0022 a0005c0004t0022g0003 a0005c0004t0022g0020 a0005c0004t0023g0024 a0005c0004t0031g0004 a0005c0004t0032g0012 a0005c0004t0033g0011 a0005c0004t0034g0019 a0005c0017t0001g0230 a0005c0017t0048g0292 a0008c0011t0015g0007 a0008c0011t0015g0015 a0008c0011t0015g0016 a0008c0011t0015g0018 a0008c0011t0015g0023 a0008c0011t0030g0021 a0008c0022t0036g0280	28	320	0.0875	6	c.-12 others(23): Show c.-12-3326_-12-3325insTTGTAT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71756257	T T	TATATAG TATATAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 NA18969.hp2 HG01109.hp1 HG02257.hp2 NA18969.hp2	a0005 a0008 a0005 a0008	a0005c0017 a0008c0011 a0008c0022 a0005c0017 a0008c0011 a0008c0022	a0005c0017t0001 a0008c0011t0015 a0008c0022t0036 a0005c0017t0001 a0008c0011t0015 a0008c0022t0036	a0005c0017t0001g0230 a0008c0011t0015g0007 a0008c0022t0036g0280 a0005c0017t0001g0230 a0008c0011t0015g0007 a0008c0022t0036g0280	3	320	0.0094	6	c.-12 others(23): Show c.-12-5873_-12-5872insCTATAT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71756523	C C	CACACAT CACACAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG03516.hp1 others(1): Show HG02572.hp2 HG02647.hp2 HG03516.hp1 NA18522.hp2	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0008 a0006c0039 a0007c0014 a0002c0008 a0006c0039 a0007c0014	a0002c0008t0003 a0002c0008t0006 a0006c0039t0009 others(1): Show a0002c0008t0003 a0002c0008t0006 a0006c0039t0009 a0007c0014t0017	a0002c0008t0003g0092 a0002c0008t0006g0091 a0006c0039t0009g0090 others(1): Show a0002c0008t0003g0092 a0002c0008t0006g0091 a0006c0039t0009g0090 a0007c0014t0017g0089	4	320	0.0125	6	c.-12 others(23): Show c.-12-6139_-12-6138insATGTGT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71762503	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00609.hp1 others(39): Show HG00140.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02647.hp1 HG02698.hp2 HG02886.hp2 HG03098.hp2 HG03139.hp2 HG03710.hp1 HG04115.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp1 NA18965.hp1 NA18977.hp1 NA18981.hp2 NA18993.hp1 NA18997.hp2 NA19054.hp2 NA19068.hp1 NA19088.hp1 NA20129.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0015	a0001c0001 a0001c0013 a0003c0005 others(4): Show a0001c0001 a0001c0013 a0003c0005 a0003c0012 a0004c0003 a0006c0006 a0015c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0027 a0001c0001t0050 a0001c0013t0018 a0003c0005t0001 a0003c0005t0003 a0003c0005t0007 a0003c0005t0055 a0003c0005t0056 a0003c0012t0001 a0003c0012t0049 a0004c0003t0001 a0004c0003t0002 a0004c0003t0010 a0004c0003t0051 a0006c0006t0004 a0006c0006t0024 a0015c0030t0003	a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0200 others(39): Show a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0288 a0001c0001t0002g0109 a0001c0001t0002g0211 a0001c0001t0003g0108 a0001c0001t0003g0202 a0001c0001t0003g0287 a0001c0001t0005g0228 a0001c0001t0006g0286 a0001c0001t0006g0290 a0001c0001t0007g0094 a0001c0001t0010g0132 a0001c0001t0012g0204 a0001c0001t0021g0203 a0001c0001t0027g0201 a0001c0001t0050g0107 a0001c0013t0018g0031 a0003c0005t0001g0104 a0003c0005t0001g0112 a0003c0005t0001g0119 a0003c0005t0003g0113 a0003c0005t0003g0121 a0003c0005t0007g0120 a0003c0005t0055g0105 a0003c0005t0056g0116 a0003c0012t0001g0110 a0003c0012t0001g0111 a0003c0012t0001g0117 a0003c0012t0001g0118 a0003c0012t0049g0096 a0004c0003t0001g0122 a0004c0003t0001g0208 a0004c0003t0002g0207 a0004c0003t0010g0209 a0004c0003t0051g0210 a0006c0006t0004g0134 a0006c0006t0004g0206 a0006c0006t0024g0289 a0015c0030t0003g0114	42	320	0.1313	6	c.-13 others(23): Show c.-13+5848_-13+5853dupTTTTTT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP_chr15_80774370_80956771	80786556	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01928.hp2 HG01934.hp2 others(32): Show HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02055.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03710.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18959.hp1 NA19000.hp1 NA19043.hp1 NA19065.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0020 a0001c0024 a0001c0028	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 a0001c0005t0008 a0001c0007t0003 a0001c0008t0003 a0001c0010t0001 a0001c0012t0001 a0001c0020t0003 a0001c0024t0005 a0001c0028t0017	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0155 a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0006g0135 a0001c0001t0010g0131 a0001c0001t0011g0237 a0001c0002t0001g0091 a0001c0002t0002g0066 a0001c0003t0001g0002 a0001c0003t0004g0133 a0001c0005t0008g0187 a0001c0007t0003g0132 a0001c0008t0003g0156 a0001c0010t0001g0136 a0001c0012t0001g0246 a0001c0020t0003g0254 a0001c0024t0005g0120 a0001c0028t0017g0134	35	254	0.1378	6	c.-17 others(25): Show c.-176+6976_-176+6981dupGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80800021	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00741.hp1 others(44): Show HG00323.hp2 HG00558.hp1 HG00741.hp1 HG01074.hp1 HG01106.hp1 HG01192.hp2 HG01361.hp1 HG01516.hp2 HG01943.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02257.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG03130.hp2 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG06807.hp2 NA18948.hp2 NA18954.hp2 NA18959.hp1 NA18969.hp2 NA18974.hp2 NA18977.hp2 NA18983.hp1 NA18994.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19056.hp2 NA19066.hp1 NA19086.hp2 NA19090.hp2 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0001c0013 a0001c0030 a0002c0004 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0008 a0001c0012t0001 a0001c0013t0004 a0001c0030t0020 a0002c0004t0001 a0002c0004t0002 a0006c0018t0001	a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0027 others(44): Show a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0112 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0212 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0002g0177 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0224 a0001c0001t0014g0214 a0001c0001t0024g0004 a0001c0002t0001g0005 a0001c0002t0001g0029 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0164 a0001c0002t0001g0244 a0001c0002t0002g0227 a0001c0003t0001g0002 a0001c0003t0001g0146 a0001c0005t0008g0115 a0001c0012t0001g0114 a0001c0013t0004g0113 a0001c0030t0020g0108 a0002c0004t0001g0037 a0002c0004t0001g0039 a0002c0004t0001g0056 a0002c0004t0001g0193 a0002c0004t0002g0223 a0006c0018t0001g0106	47	254	0.1850	6	c.-17 others(27): Show c.-176+20443_-176+20448dupGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80817602	A A	AAATAAT AAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01074.hp1 others(40): Show HG00099.hp1 HG00140.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01361.hp1 HG01516.hp1 HG01943.hp1 HG01978.hp1 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02257.hp1 HG02572.hp2 HG02615.hp1 HG02897.hp2 HG03017.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18951.hp2 NA18959.hp2 NA18973.hp1 NA18986.hp1 NA18994.hp2 NA19005.hp1 NA19043.hp1 NA19090.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0026 a0002c0004 a0003c0009 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0024 a0001c0002t0001 a0001c0006t0001 a0001c0008t0003 a0001c0026t0001 a0002c0004t0001 a0003c0009t0001 a0006c0018t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 others(40): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0002g0142 a0001c0001t0002g0180 a0001c0001t0002g0203 a0001c0001t0002g0210 a0001c0001t0005g0138 a0001c0001t0007g0228 a0001c0001t0019g0149 a0001c0001t0024g0004 a0001c0002t0001g0029 a0001c0002t0001g0123 a0001c0006t0001g0007 a0001c0006t0001g0096 a0001c0008t0003g0073 a0001c0026t0001g0010 a0002c0004t0001g0193 a0003c0009t0001g0014 a0003c0009t0001g0099 a0006c0018t0001g0106	43	254	0.1693	6	c.-17 others(27): Show c.-176+38023_-176+38028dupATAATA	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80823066	T T	TAACAAC TAACAAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02572.hp1 others(1): Show HG01109.hp1 HG02055.hp2 HG02572.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0011 a0001c0010t0001 a0001c0001t0001 a0001c0003t0011 a0001c0010t0001	a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0003t0011g0245 others(1): Show a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0003t0011g0245 a0001c0010t0001g0247	4	254	0.0158	6	c.-17 others(27): Show c.-176+43465_-176+43470dupAACAAC	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80829965	G G	GGTGTGT GGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01099.hp2 others(22): Show HG00140.hp1 HG00735.hp1 HG01099.hp2 HG01516.hp1 HG01943.hp1 HG01943.hp2 HG02056.hp1 HG02129.hp2 HG02145.hp1 HG02451.hp1 HG02486.hp2 HG02809.hp1 HG02886.hp1 HG03017.hp1 HG03225.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18994.hp2 NA19000.hp2 NA19043.hp2 NA19066.hp2 NA19081.hp2 NA20905.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0029 a0002c0004 a0008c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0003 a0001c0029t0001 a0002c0004t0002 a0008c0022t0001	a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0036 others(22): Show a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0090 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0152 a0001c0001t0001g0175 a0001c0001t0001g0190 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0219 a0001c0001t0019g0149 a0001c0002t0001g0017 a0001c0002t0001g0123 a0001c0003t0001g0076 a0001c0003t0001g0250 a0001c0006t0001g0072 a0001c0007t0003g0054 a0001c0029t0001g0111 a0002c0004t0002g0223 a0008c0022t0001g0144	25	254	0.0984	6	c.-17 others(27): Show c.-175-43541_-175-43536dupTGTGTG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80829990	G G	GTGTGTT GTGTGTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp2 others(54): Show HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG02015.hp1 HG02027.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03831.hp2 NA18939.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18970.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19056.hp1 NA19065.hp1 NA19065.hp2 NA19081.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0017 a0001c0020 a0001c0034 a0002c0031 a0004c0016 a0009c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0002t0001 a0001c0006t0001 a0001c0017t0001 a0001c0020t0003 a0001c0034t0001 a0002c0031t0001 a0004c0016t0001 a0009c0025t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0022 others(54): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0128 a0001c0001t0001g0148 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0229 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0224 a0001c0001t0004g0062 a0001c0001t0014g0214 a0001c0001t0015g0024 a0001c0001t0024g0004 a0001c0002t0001g0006 a0001c0002t0001g0030 a0001c0002t0001g0091 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0235 a0001c0006t0001g0007 a0001c0006t0001g0096 a0001c0017t0001g0186 a0001c0020t0003g0254 a0001c0034t0001g0021 a0002c0031t0001g0047 a0004c0016t0001g0184 a0009c0025t0001g0025	57	254	0.2244	6	c.-17 others(27): Show c.-175-43543_-175-43542insTTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80832322	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03017.hp2 NA19065.hp1 HG01257.hp1 HG03017.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0002g0211 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0002g0211	3	254	0.0118	6	c.-17 others(27): Show c.-175-41182_-175-41177dupGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80839289	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01109.hp2 others(16): Show HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG02129.hp2 HG02145.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02809.hp1 HG02976.hp2 HG03195.hp2 NA18522.hp1 NA18906.hp1 NA19000.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0019 a0001c0026 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 a0001c0005t0003 a0001c0006t0001 a0001c0007t0013 a0001c0010t0001 a0001c0011t0001 a0001c0019t0021 a0001c0026t0001 a0002c0004t0002	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0201 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0005g0138 a0001c0001t0011g0237 a0001c0002t0001g0168 a0001c0003t0001g0102 a0001c0003t0001g0250 a0001c0005t0003g0122 a0001c0006t0001g0072 a0001c0007t0013g0205 a0001c0010t0001g0136 a0001c0011t0001g0130 a0001c0019t0021g0094 a0001c0026t0001g0010 a0002c0004t0002g0223	19	254	0.0748	6	c.-17 others(27): Show c.-175-34212_-175-34207dupGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80848900	G G	GCACACA GCACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00544.hp2 others(69): Show HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp1 HG02027.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02818.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03516.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18939.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp2 NA19066.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19240.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0012 a0001c0020 a0001c0034 a0002c0004 a0002c0031 a0008c0022 a0009c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0005t0003 a0001c0005t0008 a0001c0007t0003 a0001c0008t0003 a0001c0012t0001 a0001c0020t0003 a0001c0034t0001 a0002c0004t0001 a0002c0031t0001 a0008c0022t0001 a0009c0025t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 others(69): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0236 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0238 a0001c0001t0004g0062 a0001c0001t0007g0228 a0001c0001t0009g0166 a0001c0001t0009g0167 a0001c0002t0001g0029 a0001c0002t0001g0091 a0001c0002t0001g0127 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0198 a0001c0002t0002g0222 a0001c0002t0002g0227 a0001c0003t0001g0002 a0001c0003t0001g0117 a0001c0003t0002g0202 a0001c0005t0003g0162 a0001c0005t0008g0115 a0001c0005t0008g0187 a0001c0007t0003g0054 a0001c0008t0003g0156 a0001c0012t0001g0246 a0001c0020t0003g0254 a0001c0034t0001g0021 a0002c0004t0001g0037 a0002c0004t0001g0056 a0002c0031t0001g0047 a0008c0022t0001g0144 a0009c0025t0001g0025	72	254	0.2835	6	c.-17 others(27): Show c.-175-24616_-175-24611dupACACAC	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900585	G G	GGTGTGT GGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG02615.hp2 others(9): Show HG01192.hp2 HG01243.hp1 HG02615.hp2 HG02922.hp2 HG03486.hp1 HG03579.hp1 HG03831.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18974.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0014 a0001c0017 a0001c0028 a0006c0018	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0014t0001 a0001c0017t0001 a0001c0028t0017 a0006c0018t0001	a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0100 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0230 a0001c0002t0001g0127 a0001c0002t0001g0244 a0001c0002t0002g0222 a0001c0006t0001g0242 a0001c0014t0001g0248 a0001c0017t0001g0186 a0001c0028t0017g0134 a0006c0018t0001g0106	12	254	0.0472	6	c.141 others(25): Show c.1411+4584_1411+4589dupGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900638	G G	GTGTGTC GTGTGTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02165.hp1 NA19043.hp2 HG01884.hp2 HG02165.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0015 a0001c0001 a0001c0003 a0005c0015	a0001c0001t0001 a0001c0003t0001 a0005c0015t0001 a0001c0001t0001 a0001c0003t0001 a0005c0015t0001	a0001c0001t0001g0153 a0001c0003t0001g0076 a0005c0015t0001g0078 a0001c0001t0001g0153 a0001c0003t0001g0076 a0005c0015t0001g0078	3	254	0.0118	6	c.141 others(25): Show c.1411+4583_1411+4584insCTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80952617	C C	CGTGTGT CGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02572.hp1 HG02615.hp1 others(5): Show HG01243.hp2 HG02572.hp1 HG02615.hp1 HG03139.hp1 HG03195.hp2 HG03540.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0001c0024	a0001c0001t0001 a0001c0001t0005 a0001c0003t0005 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0005 a0001c0010t0001 a0001c0024t0005	a0001c0001t0001g0015 a0001c0001t0005g0138 a0001c0001t0005g0249 others(5): Show a0001c0001t0001g0015 a0001c0001t0005g0138 a0001c0001t0005g0249 a0001c0003t0005g0105 a0001c0010t0001g0136 a0001c0010t0001g0165 a0001c0010t0001g0247 a0001c0024t0005g0120	8	254	0.0315	6	c.36 others(17): Show c.3693_*3694insGTGTGT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding		847		chr15	TogoVar
CENATAC_chr11_118993138_119020793	119018686	G G	GAGGAGA GAGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(92): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01934.hp2 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp2 NA18906.hp1 NA18943.hp2 NA18946.hp2 NA18956.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19059.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0004c0004	a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0146 a0001c0002t0001g0003 others(60): Show a0001c0001t0001g0001 a0001c0001t0001g0146 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0084 a0001c0002t0001g0101 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0003c0006t0001g0128 a0004c0004t0001g0011	95	318	0.2987	6	c.30 others(17): Show c.3088_*3089insAGGAGA	CENATAC	ENSG00000186166.9	transcript	ENST00000334418.6	protein_coding		2894		chr11	TogoVar
CEND1_chr11_782115_795090	795060	G G	GGGTGGA GGGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02818.hp1 others(2): Show HG02572.hp1 HG02647.hp1 HG02818.hp1 HG03471.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	414	0.0121	6	c.-51 others(17): Show c.-5119_-5114dupTCCACC	CEND1	ENSG00000184524.6	transcript	ENST00000330106.5	protein_coding		4971		chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)