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
CCDC183_chr9_136791338_136812741	136802964	C C	CCTCTTGG others(197): Show CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCTCCAGGGCGGGCTCTCTTGGATCTTTGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGC GGGCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	398	0.0025	204	c.666 others(219): Show c.666+224_666+225insCGGGGGCCCTCCAGGGCGGGCTCTCTTGGA TCTTTGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(197): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	398	0.0025	204	c.666 others(219): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(197): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTC CCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	410	0.0024	204	c.-22 others(215): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(197): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTC CCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	410	0.0024	204	c.-22 others(215): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(197): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTC CCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02027.hp1 NA19056.hp1 HG00558.hp2 HG02027.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0019 a0001c0001t0003g0147 a0001c0001t0003g0007 a0001c0001t0003g0019 a0001c0001t0003g0147	3	410	0.0073	204	c.-22 others(215): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(197): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTC CCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCC TCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	410	0.0024	204	c.-22 others(215): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AATATATA others(197): Show AATATATATATATATATATATATATATATATATATACTCATATATATATA TATACTCATATATATATATATACTCATATATATATATATTCATATATATA TACTCATATATATATATATACTCATATATATATATATTCATATATATATA CTCATATATATATATATACTCATATATATATATATTCATATATATATATA TATTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	370	0.0027	204	c.232 others(225): Show c.2326-11590_2326-11589insTATATATATACTCATATATATATA TATACTCATATATATATATATACTCATATATATATATATTCATATATATA TACTCATATATATATATATACTCATATATATATATATTCATATATATATA CTCATATATATATATATACTCATATATATATATATTCATATATATATATA TATTCATATATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD226_chr18_69848274_69952873	69894564	G G	GGAGGGGA others(197): Show GGAGGGGAGGGAGGGAAGGGAGGGAAGGGGGGGAGGGGAGGGGAGGGGAG CAGATGGGGGCAGGGGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGGGGA GGGGGAGGGAGACCGGAAGGGGAGGGAGACGGGGAGGGGAGGGAGACGGG GAGGGGGAGGGCAGGGGAGGGGAAGGGCAGGGGAGGGGAAGGGCAGGGGA GGGGA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0141 a0001c0001t0043g0141	1	256	0.0039	204	c.727 others(221): Show c.727+1136_727+1137insTCCCCTCCCCTGCCCTTCCCCTCCCCTG CCCTTCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTC TCCCTCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCA TCCACTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCCC CTTCCCTCCCTTCCCTCCCTCCCCTC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CDH4_chr20_61247261_61945617	61283333	C C	CGTGTGTG others(197): Show CGTGTGTGATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATG TACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTT GCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTG CTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGT GTGAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19240.hp1 HG01346.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0012 a0001c0001t0011 a0002c0002t0012	a0001c0001t0011g0033 a0002c0002t0012g0104 a0001c0001t0011g0033 a0002c0002t0012g0104	2	106	0.0189	204	c.169 others(223): Show c.169+28403_169+28404insATGTACGTGCGTTTGCACGCGCGTGC TGTGGCGTGTGTGATGTACGTGCGTTTGCACGCGCGTGCTGTGGCGTGTG TGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTG CGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGC GCGTGCTGTGGCGTGTGTGATGTGTGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61283333	C C	CGTGTGTG others(197): Show CGTGTGTGATGTGCGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATG TGCGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTT GCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTG CTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGT GTGAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02622.hp1 HG02723.hp1 HG01255.hp1 HG02622.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0006 a0001c0006t0029 a0001c0001t0001 a0001c0006t0006 a0001c0006t0029	a0001c0001t0001g0030 a0001c0006t0006g0029 a0001c0006t0029g0035 a0001c0001t0001g0030 a0001c0006t0006g0029 a0001c0006t0029g0035	3	106	0.0283	204	c.169 others(223): Show c.169+28403_169+28404insATGTGCGTGCGTTTGCACGCGCGTGC TGTGGCGTGTGTGATGTGCGTGCGTTTGCACGCGCGTGCTGTGGCGTGTG TGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTG CGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGC GCGTGCTGTGGCGTGTGTGATGTGTGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61283333	C C	CGTGTGTG others(197): Show CGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATG TGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTT GCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTG CTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGT GTGAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02965.hp1 HG04115.hp2 others(1): Show HG00408.hp2 HG02965.hp1 HG04115.hp2 NA18960.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0005c0025	a0001c0001t0031 a0002c0002t0012 a0002c0005t0030 others(1): Show a0001c0001t0031 a0002c0002t0012 a0002c0005t0030 a0005c0025t0011	a0001c0001t0031g0089 a0002c0002t0012g0082 a0002c0005t0030g0103 others(1): Show a0001c0001t0031g0089 a0002c0002t0012g0082 a0002c0005t0030g0103 a0005c0025t0011g0099	4	106	0.0377	204	c.169 others(223): Show c.169+28403_169+28404insATGTGTGTGCGTTTGCACGCGCGTGC TGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTG TGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTG CGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGC GCGTGCTGTGGCGTGTGTGATGTGTGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61383153	A A	ATATATAT others(197): Show ATATATATGAATATATGATATATATGAATATGTGATATATATGAATATAT GTGATATATATGAATATATGATATATATGAATATGTGTGATATATAAATA TAGATGAGATATATGGTATATATGATATAGATGAGATATATGAGATATAT ATGATATATCATATATATGAATATATATGATATATAATATATATGAATAT ATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02145.hp2 others(7): Show HG01243.hp1 HG01255.hp1 HG02145.hp2 HG02559.hp2 HG02630.hp2 HG02922.hp2 HG03139.hp1 HG03195.hp2 HG03540.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0001c0003t0043 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0043 a0001c0003t0052 a0001c0003t0054 a0001c0006t0029 a0002c0002t0005 a0002c0004t0003	a0001c0001t0001g0006 a0001c0003t0001g0038 a0001c0003t0043g0081 others(7): Show a0001c0001t0001g0006 a0001c0003t0001g0038 a0001c0003t0043g0081 a0001c0003t0052g0064 a0001c0003t0054g0086 a0001c0006t0029g0035 a0002c0002t0005g0022 a0002c0004t0003g0010 a0002c0004t0003g0011 a0002c0004t0003g0034	10	106	0.0943	204	c.169 others(225): Show c.169+128216_169+128217insTATATATGAATATATGATATATAT GAATATGTGATATATATGAATATATGTGATATATATGAATATATGATATA TATGAATATGTGTGATATATAAATATAGATGAGATATATGGTATATATGA TATAGATGAGATATATGAGATATATATGATATATCATATATATGAATATA TATGATATATAATATATATGAATATATATG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61383153	A A	ATATATAT others(197): Show ATATATATGAATATATGATATATATGAATATGTGATATATATGAATATAT GTGATATATATGAATATATGATATATATGAATATGTGTGATATATAAATA TAGATGAGATATATGGTATATATGATATAGATGAGATATATGGTATATAT ATGATATATCATATATATGAATATATATGATATATAATATATATGAATAT ATATG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02965.hp1 HG03516.hp2 HG01123.hp1 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0031 a0001c0001t0002 a0001c0001t0018 a0001c0001t0031	a0001c0001t0002g0088 a0001c0001t0018g0031 a0001c0001t0031g0089 a0001c0001t0002g0088 a0001c0001t0018g0031 a0001c0001t0031g0089	3	106	0.0283	204	c.169 others(225): Show c.169+128216_169+128217insTATATATGAATATATGATATATAT GAATATGTGATATATATGAATATATGTGATATATATGAATATATGATATA TATGAATATGTGTGATATATAAATATAGATGAGATATATGGTATATATGA TATAGATGAGATATATGGTATATATATGATATATCATATATATGAATATA TATGATATATAATATATATGAATATATATG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(197): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0055 a0001c0002t0007g0055	1	440	0.0023	204	c.12 others(215): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CEP170B_chr14_104860268_104901747	104884806	T T	TGATGCCG others(197): Show TGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAG GCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGA GGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGG AGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTG GAGGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0006 a0006	a0006c0030 a0006c0030	a0006c0030t0002 a0006c0030t0002	a0006c0030t0002g0184 a0006c0030t0002g0184	1	328	0.0031	204	c.177 others(221): Show c.1770+301_1770+302insTGGAGGCGATGCCGGGGGTGGCGAGTGA GAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTG AGAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGT GAGAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAG TGAGAGCCCTCGTGGGGAACGGGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104884909	T T	TGATGCCG others(197): Show TGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAG GCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGTGGA GGCGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGGGTGG AGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGTG GAGGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0006 a0004c0021t0006	a0004c0021t0006g0245 a0004c0021t0006g0245	1	328	0.0031	204	c.177 others(221): Show c.1770+385_1770+386insCCTCGTGGGGAACGGGGGGTGGAGGCGA TGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGTGGAGGCG ATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGGGTGGAGGC GATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGTGGAGG CGATGCCGGGGGTGGCGAGTGAGAGC	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CFAP46_chr10_132803392_132947570	132851869	G G	GGAATTCT others(197): Show GGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACTT AGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACT TAGGAATTCTCAGATCCTGATCCACAGACCTGGTATGTTCCTCCATTTAC TTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTA CTTAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG01074.hp2 others(12): Show HG00642.hp1 HG00673.hp2 HG01074.hp2 HG01255.hp2 HG01256.hp2 HG01517.hp2 HG01993.hp2 HG02129.hp1 HG02145.hp1 HG02300.hp1 HG02559.hp2 HG03239.hp2 HG03669.hp1 HG04184.hp1 NA18945.hp1	a0000 a0006 a0020 others(3): Show a0000 a0006 a0020 a0039 a0048 a0050	a0000c0087 a0006c0004 a0020c0017 others(3): Show a0000c0087 a0006c0004 a0020c0017 a0039c0046 a0048c0107 a0050c0104	a0000c0087t0002 a0006c0004t0002 a0020c0017t0001 others(3): Show a0000c0087t0002 a0006c0004t0002 a0020c0017t0001 a0039c0046t0001 a0048c0107t0002 a0050c0104t0001	a0000c0087t0002g0112 a0006c0004t0002g0027 a0006c0004t0002g0106 others(12): Show a0000c0087t0002g0112 a0006c0004t0002g0027 a0006c0004t0002g0106 a0006c0004t0002g0107 a0006c0004t0002g0108 a0006c0004t0002g0109 a0006c0004t0002g0110 a0006c0004t0002g0111 a0006c0004t0002g0113 a0006c0004t0002g0116 a0020c0017t0001g0147 a0020c0017t0001g0148 a0039c0046t0001g0144 a0048c0107t0002g0103 a0050c0104t0001g0236	15	246	0.0610	204	c.557 others(221): Show c.5575-768_5575-565dupTTAAGTAAATGGAGGAACATACCACGTC TGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCAGGT CTGTGGATCAGGATCTGAGAATTCCTAAGTAAATGGAGGAACATACCACG TCTGTGGATCAGGATCTGAGAATTCCTAAGTAAATGGAGGAACATACCAC GTCTGTGGATCAGGATCTGAGAATTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFD_chr19_854664_868641	866617	G G	GCCAGCGC others(197): Show GCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCGCAGGCCCGCACCCCT CACCAGCGCTCCCATCTCCTCCCCGTCCGCCCGCCACGGGCCTGCACCCC TCGCCAGCGCTCCCATCTCCTCCCCGTCCGCCCGCCACGGGCCTGCACCC CTCGCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCGCAGGCCCGCACC CCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	287	0.0035	204	c.33 others(215): Show c.3379_*3380insCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCG CAGGCCCGCACCCCTCACCAGCGCTCCCATCTCCTCCCCGTCCGCCCGCC ACGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCGCCCGC CACGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCTGTCCACCCA CCGCAGGCCCGCACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2977		chr19	TogoVar
CFD_chr19_854664_868641	866631	G G	GTCCTCCC others(197): Show GTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCA TCTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCACCAGCGCTCCC ATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCC CATCTCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCCTCACCAGCGCTC CCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	287	0.0035	204	c.33 others(215): Show c.3393_*3394insTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCC TCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCC CTCACCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACC CCTCGCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACCGCAGGCCCGCAC CCCTCACCAGCGCTCCCATC	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2991		chr19	TogoVar
CFD_chr19_854664_868641	866688	C C	CCTGTCCG others(197): Show CCTGTCCGCCCACCGCAGGCCCGCACCCCTCACCAGCGCTCCCATGTCCT CCCCGTCCACCCGCCGCGGGCCCACACCCCTCACCAGCGCTCCCATCTCC TCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCACCAGCGCTCCCATCTC CTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCT CCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG03927.hp1 HG02738.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015	2	287	0.0070	204	c.34 others(215): Show c.3450_*3451insCTGTCCGCCCACCGCAGGCCCGCACCCCTCACCA GCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCTCACC AGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCAC CAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCG CCAGCGCTCCCATCTCCTCT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3048		chr19	TogoVar
CHST5_chr16_75523530_75541108	75526189	G G	GTGTGCAT others(197): Show GTGTGCATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGTGT GTGCATGTGAGTGTGCATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGT GCATGTGAGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGAGTGTGC ATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGTGTGTGCAT GTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02055.hp1 others(1): Show HG01069.hp1 HG01071.hp2 HG02055.hp1 HG02280.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0006 a0001c0003 a0004c0006	a0001c0003t0005 a0004c0006t0017 a0001c0003t0005 a0004c0006t0017	a0001c0003t0005g0011 a0004c0006t0017g0064 a0004c0006t0017g0065 a0001c0003t0005g0011 a0004c0006t0017g0064 a0004c0006t0017g0065	4	394	0.0102	204	c.29 others(215): Show c.2959_*2960insGTCACATGCACACACACATGCACACTCACATGCA CACTCACATGCACACACACATGCACACTCACATGCACACTCACATGCACA CTCACATGCACACTCACATGCACACTCACATGCACACTCACATGCACACA CACATGCACACTCACATGCACACACACATGCACACTCACATGCACACTCA CATGCACACACACATGCACA	CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding		2340		chr16	TogoVar
CIP2A_chr3_108544864_108594438	108575636	A A	ACTCATAT others(197): Show ACTCATATACATGTGTATATACACACGTATACTCATATACATGTGTATAT ACACACGTATACTCATATACATGTGTATATACACACGTATACTCATATAC ATGTGTATATACACACGTATACTCATATACATGTGTATATACACACGTAT ACTCATATACATGTGTATATACACACGTATACTCATATACATGTGTATAT ACACG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0007	a0005c0006t0007g0291 a0005c0006t0007g0291	1	372	0.0027	204	c.894 others(219): Show c.894+634_894+635insCGTGTATATACACATGTATATGAGTATACG TGTGTATATACACATGTATATGAGTATACGTGTGTATATACACATGTATA TGAGTATACGTGTGTATATACACATGTATATGAGTATACGTGTGTATATA CACATGTATATGAGTATACGTGTGTATATACACATGTATATGAGTATACG TGTGTATATACACATGTATATGAG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNBD1_chr8_86861415_87387859	87136740	T T	TTTATATT others(197): Show TTTATATTATATTTATATTATATATAAATATATATATTTATATTATATAT AAATATATATATTTATATTATATATAAATATATATATTTATATTATATAT AAATATATATATTTATATTATATATAAATATATATATTTATATATATATA AATATATATATTTATATTATATATAAATATATATATTTATATTATATATA AATTA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	152	0.0066	204	c.432 others(223): Show c.432-69252_432-69251insTATATTATATTTATATTATATATAAA TATATATATTTATATTATATATAAATATATATATTTATATTATATATAAA TATATATATTTATATTATATATAAATATATATATTTATATTATATATAAA TATATATATTTATATATATATAAATATATATATTTATATTATATATAAAT ATATATATTTATATTATATATAAATTAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNOT3_chr19_54132762_54160681	54133833	C C	CTCTCTCC others(197): Show CTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTGT CCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTC CACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	223	0.0045	204	c.-42 others(215): Show c.-4211_-4210insTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCC TCACTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC CACCTCCCCTCACTCCACCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3928		chr19	TogoVar
CNTNAP2_chr7_146111801_148425998	146712385	C C	CTATATAG others(197): Show CTATATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATG TATACTATATAGTATACATATCTTATGTATACTATATAGTATACATATCT TATGTATACTATATAGTATACATATCTTATGTATACTATATAGTATACAT ATCTTATGTATACTATATAGTATACATATCTTATGTATACTATATAGTAT ACATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0022 a0001c0005t0022	a0001c0005t0022g0032 a0001c0005t0022g0032	1	40	0.0250	204	c.98- others(221): Show c.98-61880_98-61879insGTATACATATCTTATGTATACTATATAG TATACATATCTTATGTATACTATATAGTATACATATCTTATGTATACTAT ATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATGTATA CTATATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATG TATACTATATAGTATACATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A1_chr13_110143963_110312157	110255702	G G	GCGGGCAG others(197): Show GCGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGCGGGCA GGCAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGCA GGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA20752.hp2 HG04204.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0010 a0004c0068 a0001c0010 a0004c0068	a0001c0010t0001 a0004c0068t0001 a0001c0010t0001 a0004c0068t0001	a0001c0010t0001g0150 a0004c0068t0001g0136 a0001c0010t0001g0150 a0004c0068t0001g0136	2	344	0.0058	204	c.85- others(221): Show c.85-12969_85-12968insTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCCCCCT CCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTGCCTGCCCGCTCCCTTCCTGCCTGCC CCCTTCCCTTCCTGCCTGCCTGCCCG	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134685548	G G	GCATCCAT others(197): Show GCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCC ATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGC ATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATCCAT CCATTGTCCATCATCCATCCATCCATCCATTCATCCATCCATCCATCCGT CCATC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp2 HG02258.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0011 a0001c0007 a0001c0011	a0001c0007t0004 a0001c0011t0007 a0001c0007t0004 a0001c0011t0007	a0001c0007t0004g0028 a0001c0011t0007g0027 a0001c0007t0004g0028 a0001c0011t0007g0027	2	272	0.0074	204	c.110 others(221): Show c.110-5327_110-5326insATCCGTCCATCCATCCATCCATCCTCCA TCCATCCATCCATCCATCAACCATCCATCCATGCATCCATTCATCCATCC ACCATCCATCCACCATCCATCCACCATCATCCATCCATTGTCCATCATCC ATCCATCCATCCATTCATCCATCCATCCATCCGTCCATCCATCCATCCAT CCATCTATTCATCCATCCATCCATCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A2_chr21_46093112_46134801	46134701	G G	GAGGGTGA others(197): Show GAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCA GGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTT TAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGA GGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0328 a0003c0004t0002g0328	1	372	0.0027	204	c.52 others(215): Show c.5210_*5211insAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGG TGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTC AGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAG GGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGG TGAGGGTGAGGGTGAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4901		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134701	G G	GAGGGTGA others(197): Show GAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCA GGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTT TAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGA GGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0325 a0003c0010t0002g0325	1	364	0.0028	204	c.21 others(215): Show c.2149_*2150insAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGG TGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTC AGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAG GGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGG TGAGGGTGAGGGTGAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1854		chr21	TogoVar
COPG2_chr7_130501238_130673748	130591134	G G	GGTGAGGG others(197): Show GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCT CTGCCTGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGCGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCTGTCT GGGAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	326	0.0031	204	c.737 others(223): Show c.737+19818_737+19819insTTCCCAGACAGGGCGGCTGGCTGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACGCCCCCACCTC CCTCCCGGACGGAGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCAC	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
CPNE3_chr8_86509435_86566498	86520140	C C	CCACTTCC others(197): Show CCACTTCCTAAACAAGTTCCATATTCACTGTAATTAAATTAGGGTTATAG TACATTAATGGAAAAGACCTTAAGAATTACTTAAAGAAAGGGATTGACTC AACTCTTAGGTTTAACAGCTGAAGGCTGGGCGCAGTGGCTCACGCCTGTA ATCTCAGCATTTTGGGAGGCCAAGGTGGGCAGATTACAGGCGGATTACCT GAAGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(2): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01433.hp2 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0002 a0002c0005t0004 a0002c0005t0005 a0001c0002t0002 a0002c0005t0004 a0002c0005t0005	a0001c0002t0002g0289 a0002c0005t0004g0287 a0002c0005t0004g0288 others(2): Show a0001c0002t0002g0289 a0002c0005t0004g0287 a0002c0005t0004g0288 a0002c0005t0005g0290 a0002c0005t0005g0291	5	340	0.0147	204	c.-11 others(221): Show c.-11+4644_-11+4847dupCTTCCTAAACAAGTTCCATATTCACTGT AATTAAATTAGGGTTATAGTACATTAATGGAAAAGACCTTAAGAATTACT TAAAGAAAGGGATTGACTCAACTCTTAGGTTTAACAGCTGAAGGCTGGGC GCAGTGGCTCACGCCTGTAATCTCAGCATTTTGGGAGGCCAAGGTGGGCA GATTACAGGCGGATTACCTGAAGTCA	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE7_chr16_89570758_89602246	89587819	A A	AGCCACAG others(197): Show AGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCC CCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACG GCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATAC ACGGC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0043 a0001c0005t0002g0043	1	348	0.0029	204	c.927 others(219): Show c.927+717_927+718insGCCACAGATACACGGCCCCCCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCC CCGTGTCAGCCACAGATACACGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588069	C C	CCGTGTCA others(197): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCACAGATACATGGCCCCCCGTGTC ACCCG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0003 a0011c0016t0003	a0011c0016t0003g0112 a0011c0016t0003g0112	1	348	0.0029	204	c.928 others(219): Show c.928-601_928-600insCACCCGCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA TGGCCCCCCGTGTCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(197): Show ATATATATATATATATATATATATTTCTATATATATATATATATATATAT TTCTATATATATATATATATATATATATTTCTATATATATATATATATTT CTATATATATATATATTTCTATATATATATATTTCTATATATATATATTT CTATATATATATATTTCTATATATATATATATATTTCTATATATATATAT ATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	370	0.0027	204	c.56 others(215): Show c.5645_*5646insTATATATATATATATATATATATTTCTATATATA TATATATATATATATTTCTATATATATATATATATATATATATTTCTATA TATATATATATATTTCTATATATATATATATTTCTATATATATATATTTC TATATATATATATTTCTATATATATATATTTCTATATATATATATATATT TCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(197): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATAT TTCTATATATATATATATATATATATATATCTATATATATATATATATTT CTATATATATATATATTTCTATATATATATATTTCTATATATATATATTT CTATATATATATATTTCTATATATATATATATATTTCTATATATATATAT ATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	370	0.0027	204	c.56 others(215): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATATTTCTATATATATATATATATATATATATATCTATA TATATATATATATTTCTATATATATATATATTTCTATATATATATATTTC TATATATATATATTTCTATATATATATATTTCTATATATATATATATATT TCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(197): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATAT TTCTATATATATATATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTTTCTATATATATATATATATTTCTATATATATATAT ATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	370	0.0027	204	c.56 others(215): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATATTTCTATATATATATATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTTTCTATATATATATATATATT TCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CSMD1_chr8_2930361_4999914	3448331	G G	GGGAGGGA others(197): Show GGGAGGGAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGA AGGGAGGGAGGGAGGGGGAGGAGGGAGGAGGAAGGGAAAGAAGGAAGGAA GAAAGGGAGGGAGGGAGAGAGGGAGGGAGGCAGGAGGGAGGGAGGGAGGG AGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 NA19030.hp2 HG02965.hp1 HG03195.hp1 NA19030.hp2	a0002 a0012 a0030 a0002 a0012 a0030	a0002c0054 a0012c0104 a0030c0052 a0002c0054 a0012c0104 a0030c0052	a0002c0054t0079 a0012c0104t0071 a0030c0052t0049 a0002c0054t0079 a0012c0104t0071 a0030c0052t0049	a0002c0054t0079g0096 a0012c0104t0071g0058 a0030c0052t0049g0098 a0002c0054t0079g0096 a0012c0104t0071g0058 a0030c0052t0049g0098	3	126	0.0238	204	c.156 others(225): Show c.1561+20380_1561+20381insTCCCTCCCTCCCTCCCTCCCTCCT GCCTCCCTCCCTCTCTCCCTCCCTCCCTTTCTTCCTTCCTTCTTTCCCTT CCTCCTCCCTCCTCCCCCTCCCTCCCTCCCTTCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCTCCCTCCCT CCCTTCTTCCTTCCTTCCTTCCTTCCCTCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(197): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18939.hp1 NA18999.hp1 others(1): Show HG01358.hp1 NA18939.hp1 NA18999.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0291 others(1): Show a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0291 a0001c0001t0001g0292	4	360	0.0111	204	c.28- others(219): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTTGTATTTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20			chr11	TogoVar
CUX2_chr12_111029165_111355554	111326188	G G	GTTTTGTT others(197): Show GTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTG TGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGT TGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGAGGGG TTGGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp1 HG02622.hp1 others(1): Show HG01099.hp1 HG02145.hp1 HG02622.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0023 a0001c0002t0001g0025 others(1): Show a0001c0002t0001g0004 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026	4	100	0.0400	204	c.292 others(223): Show c.2926+3611_2926+3612insTGTTTATAGTGTTGTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAG TGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGG GTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTAT AGTGTTGTGATGGGGAGGGGTTGGTTTT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CXorf51A_chrX_146809106_146819744	146812368	C C	CATATATG others(197): Show CATATATGTGTACATATATGTGTGTATATGTGTGTATATACATATATGTG TATATACATATATACACATATATATGTGTGTATATGTGTGTGTATATACA TATATGTGTATATACGTATATACACATATATGTGTGTATATATGTGTATA TATATACATATATACACATGTGTATATATGTGTATATATATACATATATA CACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	264	0.0038	204	c.18 others(215): Show c.1838_*1839insATGTGTATATATGTATATATATACACATATATAC ACATGTGTATATATGTATATATATACACATATATACACACATATATGTGT ATATACGTATATACACATATATGTATATACACACACATATACACACATAT ATATGTGTATATATGTATATACACATATATGTATATACACACATATACAC ACATATATGTACACATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1737		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812368	C C	CATATATG others(197): Show CATATATGTGTACATATATGTGTGTATATGTGTGTATATACATATATGTG TATATACATATATACACATATATATGTGTGTATATGTGTGTGTATATACA TATATGTGTATATACGTATATACACATATATGTGTGTATATATGTGTATA TATATACATATATACACATGTGTATATATGTGTATATATATACATATATA CACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	272	0.0037	204	c.20 others(215): Show c.2060_*2061insATATATGTGTACATATATGTGTGTATATGTGTGT ATATACATATATGTGTATATACATATATACACATATATATGTGTGTATAT GTGTGTGTATATACATATATGTGTATATACGTATATACACATATATGTGT GTATATATGTGTATATATATACATATATACACATGTGTATATATGTGTAT ATATATACATATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1958		chrX	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(197): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC TCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCTCCC CTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02559.hp1 others(2): Show HG01884.hp2 HG02257.hp2 HG02559.hp1 HG02818.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0106	5	292	0.0171	204	c.165 others(219): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGG GGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGG GGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGG GGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DBNDD1_chr16_89999871_90024456	90008138	G G	GCACACCT others(197): Show GCACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACCCACACCTC CCAGGATGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTC CCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACTTCCCAAGGGGC CTCAGCCCACCACGCACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCA CCACC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	412	0.0024	204	c.319 others(219): Show c.319+645_319+646insGGTGGTGGGCTGAGGCCCCTTGGGAAGTCC TGGGAGGTGTGCGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTG TGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGTTTGGGG GGTGAGGCCCCTTGGGACATCCTGGGAGGTGTGGGTGGTGGGCTGAGGCC CCTTGGGACGTCCTGGGAGGTGTG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90008479	T T	TTCCCAAG others(197): Show TTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGTCCCAAGG GGCCTCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCAGCC CACCATGCACACCTCTCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCA CACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACGCACACCTCCCA GGACG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	412	0.0024	204	c.319 others(219): Show c.319+304_319+305insCGTCCTGGGAGGTGTGCGTGGTGGGCTGAG GCCCCTTGGGACGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGG GAAGTCCTGAGAGGTGTGCATGGTGGGCTGAGGCCCCTTGGGAAGTCCTG GGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGG GTGGTGGGCTGAGGCCCCTTGGGA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90008584	C C	CACACACC others(197): Show CACACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACGCACACCT CCCAGGACGTCCCAAGGGGCCTCAGCCCACCACGCACACCTCCCAGGACG TCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACTTCCCAAGGG GCCTCAGCCCACCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCACCC CCCAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG00741.hp1 others(24): Show HG00323.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01884.hp1 HG01952.hp2 HG01978.hp1 HG02083.hp2 HG02293.hp1 HG03704.hp2 HG03831.hp2 HG04228.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18980.hp2 NA18990.hp1 NA19002.hp2 NA19054.hp1 NA19057.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0002g0237 a0001c0001t0016g0115	27	412	0.0655	204	c.319 others(219): Show c.319+199_319+200insTTGGGGGGTGAGGCCCCTTGGGACGTCCTG GGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTG GGTGGTGGGCTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGCGTGGTGGG CTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGCGTGGTGGGCTGAGGCCC CTTGGGACGTCCTGGGAGGTGTGT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(197): Show ATGTGTGTGTATATACACATATATATACTATGTGTGTGTATATATACATA TATATACTATGTGTGTATATATATACATATATACTATATGTGTGTATATA TATACATATATACTATATGTGTGTGTATATATATACATATATATACTATA TATGTGTGTGTGTGTATGTATGTATATATATATATATATATTTTTTTTTT TTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01257.hp1 others(6): Show HG00140.hp1 HG00738.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp2 HG03654.hp2 HG03688.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0025 a0001c0002t0035 a0001c0002t0008 a0001c0002t0025 a0001c0002t0035	a0001c0002t0008g0007 a0001c0002t0008g0049 a0001c0002t0008g0120 others(3): Show a0001c0002t0008g0007 a0001c0002t0008g0049 a0001c0002t0008g0120 a0001c0002t0025g0007 a0001c0002t0025g0049 a0001c0002t0035g0007	9	380	0.0237	204	c.-11 others(215): Show c.-1175_-1174insTGTGTGTGTATATACACATATATATACTATGTGT GTGTATATATACATATATATACTATGTGTGTATATATATACATATATACT ATATGTGTGTATATATATACATATATACTATATGTGTGTGTATATATATA CATATATATACTATATATGTGTGTGTGTGTATGTATGTATATATATATAT ATATATTTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCC_chr18_52335197_53540899	53428611	T T	TTTTATAT others(197): Show TTTTATATATAATTATATAATATATTTTTATATATAATGTATATTTTATA TATTATATATATTTTATATATAATGTATATTTTATATATTATATATATTT TATATATAATGTATATTTTATATATTATATATATTTTATATATAATGTAT ATTTTATATATTATATATATTTTATATATAATGTATATTTTATATATTAT ATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0013 a0001c0003t0008g0013	1	114	0.0088	204	c.316 others(223): Show c.3164-6530_3164-6529insATATATAATTATATAATATATTTTTA TATATAATGTATATTTTATATATTATATATATTTTATATATAATGTATAT TTTATATATTATATATATTTTATATATAATGTATATTTTATATATTATAT ATATTTTATATATAATGTATATTTTATATATTATATATATTTTATATATA ATGTATATTTTATATATTATATATATTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCLK2_chr4_150073445_150262438	150251087	A A	ACACCCCC others(197): Show ACACCCCCACACCCCCCCACACCCCCACACATCCCCCACCCCCACATCCC CCCACCCCCACCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCC CACACCCCCCACACCCCCCACATCCCCCACACCCCCACACATCCCCCACA CCCCCACACATCCCCCCACACCCCCCACATCCCCCACACCCCCCACATCC CCCAC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	116	0.0086	204	c.207 others(223): Show c.2073+1403_2073+1404insCACCCCCACACCCCCCCACACCCCCA CACATCCCCCACCCCCACATCCCCCCACCCCCACCCCCACACCCCCCACA TCCCCCACACCCCCCACATCCCCCACACCCCCCACACCCCCCACATCCCC CACACCCCCACACATCCCCCACACCCCCACACATCCCCCCACACCCCCCA CATCCCCCACACCCCCCACATCCCCCAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DEPDC1B_chr5_60591912_60705166	60668158	A A	ATTTTATA others(197): Show ATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGG ATATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAAT GGATATTTTATATATATATAAAATGGATATTTTATATATATATAAAATGG ATATTTTATATATATATAAAATGGATATTTTATATATATATATAAAATGG ATATT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	292	0.0034	204	c.314 others(223): Show c.314+18803_314+18804insAATATCCATTTTATATATATATATAA AATATCCATTTTATATATATATAAAATATCCATTTTATATATATATAAAA TATCCATTTTATATATATATAAAATATCCATTTTATATATATATATAAAA TATCCATTTTATATATATATATAAAATATCCATTTTATATATATATATAA AATATCCATTTTATATATATATATAAAA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKD_chr2_233349494_233477098	233463375	A A	ACATCTCC others(197): Show ACATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCA CGCATGTCCTCACTGCACGCATGTCCTCACTGCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTC CACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACT CCACG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0233 a0001c0002t0003g0233	1	336	0.0030	204	c.318 others(221): Show c.3186+656_3186+657insGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATGTCCTCACTGCACGCATGTCCTCACTGCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCC TCACTCCACGCATCTCCTCACTCCAC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)