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
CFAP46_chr10_132803392_132947570	132851922	A A	AATTCTCA others(95): Show AATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACTTAG GAATTCTCAGATCCTGATCCACAGACCTGGTATGTTCCTCCATTTACTTA GAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0070 a0070	a0070c0074 a0070c0074	a0070c0074t0002 a0070c0074t0002	a0070c0074t0002g0006 a0070c0074t0002g0006	1	246	0.0041	102	c.557 others(119): Show c.5575-719_5575-618dupGTCTAAGTAAATGGAGGAACATACCAGG TCTGTGGATCAGGATCTGAGAATTCCTAAGTAAATGGAGGAACATACCAC GTCTGTGGATCAGGATCTGAGAAT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	36371765	T T	TATATACG others(95): Show TATATACGTGTGCATATACACACATGTGTGTATATACGTGTGCATATACA CACATGTGTGTATATACGTGTGCATATACACACATGTGTGTATATACGTG TGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0049 a0049	a0049c0058 a0049c0058	a0049c0058t0001 a0049c0058t0001	a0049c0058t0001g0207 a0049c0058t0001g0207	1	216	0.0046	102	c.918 others(121): Show c.9185+4644_9185+4645insGTGTGCATATACACACATGTGTGTAT ATACGTGTGCATATACACACATGTGTGTATATACGTGTGCATATACACAC ATGTGTGTATATACGTGTGCATATAC	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP54_chr12_96484577_96880555	96827763	T T	TTATATTA others(95): Show TTATATTATATATAGTTATATATAATATATAATTATATATAATACATAGT AATATATTATATATAGTTATATATAATATATAATTATATATAATACATAG TAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0024 a0024	a0024c0046 a0024c0046	a0024c0046t0001 a0024c0046t0001	a0024c0046t0001g0046 a0024c0046t0001g0046	1	268	0.0037	102	c.909 others(121): Show c.9097-1189_9097-1088dupATAGTTATATATAATATATAATTATA TATAATACATAGTAATATATTATATATAGTTATATATAATATATAATTAT ATATAATACATAGTAATATATTATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP74_chr1_1916957_2008786	1924223	G G	GACCACCC others(95): Show GACCACCCCCCAGCTCACAGCCCACCCCACCATCTCACCGCCCAGCCCCC CATCTCACCAGCTGCCCCCTCCCCGGCACACCGCCCACCCCCCCATCTCA CCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0036 a0036	a0036c0054 a0036c0054	a0036c0054t0002 a0036c0054t0002	a0036c0054t0002g0068 a0036c0054t0002g0068	1	278	0.0036	102	c.423 others(119): Show c.4234+167_4234+168insTGGTGAGATGGGGGGGTGGGCGGTGTGC CGGGGAGGGGGCAGCTGGTGAGATGGGGGGCTGGGCGGTGAGATGGTGGG GTGGGCTGTGAGCTGGGGGGTGGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1924223	G G	GACCACCC others(95): Show GACCACCCCCCAGCTCACAGCCCACCCCACCATCTCACCGCCCAGCCCCC CCATCTCACCAGCTGCCCCCTCCCCGGCACACCGCCCACCCCCCATCTCA CCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0009 a0002c0047t0009	a0002c0047t0009g0271 a0002c0047t0009g0271	1	278	0.0036	102	c.423 others(119): Show c.4234+167_4234+168insTGGTGAGATGGGGGGTGGGCGGTGTGCC GGGGAGGGGGCAGCTGGTGAGATGGGGGGGCTGGGCGGTGAGATGGTGGG GTGGGCTGTGAGCTGGGGGGTGGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1924228	C C	CCCCCCAG others(95): Show CCCCCCAGCTCACAGCCCACCCCCCCATCTCACCGCCCAGCCCCCCCATC TCACCAGCTGCCCCTCCCCCGACACACCGCCCACCCCCCCATCTCACCAA CCA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0047 a0047	a0047c0085 a0047c0085	a0047c0085t0001 a0047c0085t0001	a0047c0085t0001g0129 a0047c0085t0001g0129	1	278	0.0036	102	c.423 others(119): Show c.4234+162_4234+163insTGGTTGGTGAGATGGGGGGGTGGGCGGT GTGTCGGGGGAGGGGCAGCTGGTGAGATGGGGGGGCTGGGCGGTGAGATG GGGGGGTGGGCTGTGAGCTGGGGG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1934279	T T	TACGTGGG others(95): Show TACGTGGGTGTTAGGTTGTAGGTACACAGGTGTATACGTGGGTGTTAGGT TGTAGGTACACAGGTGTACACGTGGGTGTTAGGTTGTAGGTACACAGGTG TAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01070.hp2 others(4): Show HG00099.hp1 HG00323.hp1 HG01070.hp2 HG01074.hp2 HG04115.hp1 NA19007.hp1 NA19065.hp2	a0003 a0028 a0048 a0003 a0028 a0048	a0003c0003 a0028c0036 a0048c0058 a0003c0003 a0028c0036 a0048c0058	a0003c0003t0001 a0028c0036t0001 a0048c0058t0001 a0003c0003t0001 a0028c0036t0001 a0048c0058t0001	a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0097 others(4): Show a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0097 a0003c0003t0001g0203 a0003c0003t0001g0221 a0028c0036t0001g0276 a0048c0058t0001g0223	7	278	0.0252	102	c.301 others(121): Show c.3012-3944_3012-3943insGTACACCTGTGTACCTACAACCTAAC ACCCACGTGTACACCTGTGTACCTACAACCTAACACCCACGTATACACCT GTGTACCTACAACCTAACACCCACGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	25/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1934279	T T	TACGTGGG others(95): Show TACGTGGGTGTTAGGTTGTAGGTACACAGGTGTATACGTGGGTGTTAGGT TGTAGGTACACAGGTGTATACGTGGGTGTTAGGTTGTAGGTACACAGGTG TAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00609.hp2 others(12): Show HG00280.hp2 HG00597.hp2 HG00609.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01258.hp1 HG02109.hp1 HG02257.hp2 HG02293.hp1 HG03239.hp1 HG03710.hp2 NA18984.hp2 NA20752.hp1 NA20805.hp1	a0003 a0009 a0038 others(2): Show a0003 a0009 a0038 a0049 a0051	a0003c0003 a0003c0013 a0009c0011 others(3): Show a0003c0003 a0003c0013 a0009c0011 a0038c0086 a0049c0068 a0051c0071	a0003c0003t0001 a0003c0013t0001 a0009c0011t0001 others(3): Show a0003c0003t0001 a0003c0013t0001 a0009c0011t0001 a0038c0086t0001 a0049c0068t0001 a0051c0071t0001	a0003c0003t0001g0099 a0003c0003t0001g0116 a0003c0003t0001g0166 others(12): Show a0003c0003t0001g0099 a0003c0003t0001g0116 a0003c0003t0001g0166 a0003c0003t0001g0190 a0003c0003t0001g0192 a0003c0003t0001g0195 a0003c0003t0001g0210 a0003c0003t0001g0255 a0003c0013t0001g0159 a0003c0013t0001g0278 a0009c0011t0001g0135 a0009c0011t0001g0213 a0038c0086t0001g0151 a0049c0068t0001g0214 a0051c0071t0001g0077	15	278	0.0540	102	c.301 others(121): Show c.3012-3944_3012-3943insGTACACCTGTGTACCTACAACCTAAC ACCCACGTATACACCTGTGTACCTACAACCTAACACCCACGTATACACCT GTGTACCTACAACCTAACACCCACGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	25/38			chr1	TogoVar
CFD_chr19_854664_868641	866537	C C	CGTCCACC others(95): Show CGTCCACCCATCGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCC CCGTCCGCCCGCCACGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTC CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	287	0.0035	102	c.32 others(113): Show c.3299_*3300insGTCCACCCATCGCGGGCCCGCACCCCTCGCCAGC GCTCCCATCTCCTCCCCGTCCGCCCGCCACGGGCCTGCACCCCTCGCCAG CGCTCCCATCTCCTCCCT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2897		chr19	TogoVar
CFD_chr19_854664_868641	866551	A A	AGGCCCGC others(95): Show AGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCATCG CGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCCCTGTCCGCCCGCC ACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	287	0.0035	102	c.33 others(113): Show c.3313_*3314insGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTC TCCGTCCACCCATCGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCT CCCTGTCCGCCCGCCACG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2911		chr19	TogoVar
CFD_chr19_854664_868641	866551	A A	AGGCCCGC others(95): Show AGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCGCCG CGGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCC GCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01123.hp2 HG01358.hp1 others(5): Show HG00323.hp2 HG01123.hp2 HG01358.hp1 HG01358.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	8	287	0.0279	102	c.33 others(113): Show c.3313_*3314insGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTC TCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCT CCCCGTCCACCCGCCGCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2911		chr19	TogoVar
CFD_chr19_854664_868641	866617	G G	GCCAGCGC others(95): Show GCCAGCGCTCCCATCTCCTCTCCGTCCACCCATCGCGGGCCCGCACCCCT CGCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCC TCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	287	0.0035	102	c.33 others(113): Show c.3379_*3380insCCAGCGCTCCCATCTCCTCTCCGTCCACCCATCG CGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACC GCAGGCCCGCACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2977		chr19	TogoVar
CFD_chr19_854664_868641	866658	T T	TGCACCCC others(95): Show TGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCAGGC CCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCATCGCGGG CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	287	0.0035	102	c.34 others(113): Show c.3420_*3421insGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGT CCACCCGCCGCAGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCG TCCACCCATCGCGGGCCC	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3018		chr19	TogoVar
CFD_chr19_854664_868641	866688	C C	CCTGTCCG others(95): Show CCTGTCCGCCCACCGCAGGCCCGCACCCCTCACCAGCGCTCCCATGTCCT CCCCGTCCACCCGCCGCGGGCCCACACCCCTCACCAGCGCTCCCATCTCC TCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	287	0.0035	102	c.34 others(113): Show c.3450_*3451insCTGTCCGCCCACCGCAGGCCCGCACCCCTCACCA GCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCTCACC AGCGCTCCCATCTCCTCT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3048		chr19	TogoVar
CFD_chr19_854664_868641	866752	C C	CGCGGGCC others(95): Show CGCGGGCCCACACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCCA CTGCGGGCCCGCACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCC ACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA19066.hp2 NA18979.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	287	0.0070	102	c.35 others(113): Show c.3514_*3515insGCGGGCCCACACCCCTCACCAGCGCTCCCATCTC CTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCACCAGCGCTCCCATCT CCTCTCCGTCCGCCCACT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3112		chr19	TogoVar
CFD_chr19_854664_868641	866806	G G	GGGCCCGC others(95): Show GGGCCCGCACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTG CGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACC GCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	287	0.0035	102	c.35 others(113): Show c.3568_*3569insGGCCCGCACCCCTCACCAGCGCTCCCATCTCCTC TCCGTCCGCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCT CCCTGTCCGCCCACCGCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3166		chr19	TogoVar
CFD_chr19_854664_868641	866852	A A	ATCGCGGG others(95): Show ATCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCTGTCCGCC CACCGCAGGCCCGCACCCCTCACCAGCGCTCCCATGTCCTCCCCGTCCAC CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0010	1	287	0.0035	102	c.36 others(113): Show c.3614_*3615insTCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATC TCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCCTCACCAGCGCTCCCAT GTCCTCCCCGTCCACCCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3212		chr19	TogoVar
CFD_chr19_854664_868641	866872	G G	GCCAGCGC others(95): Show GCCAGCGCTCCCATGTCCTCCCCGTCCGCCCGCCACGGGCCTGCACCCCT CGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCC TCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02630.hp2 NA19240.hp2 HG01884.hp1 HG02630.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0020 a0001c0001t0001g0029	3	287	0.0105	102	c.36 others(113): Show c.3634_*3635insCCAGCGCTCCCATGTCCTCCCCGTCCGCCCGCCA CGGGCCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCC GCGGGCCCACACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3232		chr19	TogoVar
CFD_chr19_854664_868641	866899	A A	ACCCACCG others(95): Show ACCCACCGCAGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTC CACCCGCCGCGGGCCCACACCCCTCACCAGCGCTCCCATCTCCTCTCCGT CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01257.hp2 HG04115.hp2 others(1): Show HG00140.hp2 HG01257.hp2 HG04115.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0072 a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0072	4	287	0.0139	102	c.36 others(113): Show c.3661_*3662insCCCACCGCAGGCCCGCACCCCTCGCCAGCGCTCC CATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCTCACCAGCGCTC CCATCTCCTCTCCGTCCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3259		chr19	TogoVar
CFD_chr19_854664_868641	866899	A A	ACCCACTG others(95): Show ACCCACTGCGGGCCCGCACCCCTCACCAGCGCTCCCATCTCCTCTCCGTC CACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGT CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	287	0.0035	102	c.36 others(113): Show c.3661_*3662insCCCACTGCGGGCCCGCACCCCTCACCAGCGCTCC CATCTCCTCTCCGTCCACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTC CCATCTCCTCTCCGTCCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3259		chr19	TogoVar
CFD_chr19_854664_868641	866899	A A	ACCCACTG others(95): Show ACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGT CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01081.hp2 HG01978.hp2 HG01069.hp2 HG01081.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	3	287	0.0105	102	c.36 others(113): Show c.3661_*3662insCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCC CATCTCCTCTCCGTCCACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTC CCATCTCCTCTCCGTCCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3259		chr19	TogoVar
CFD_chr19_854664_868641	866914	G G	GCACCCCT others(95): Show GCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGCC CGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGC CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	287	0.0035	102	c.36 others(113): Show c.3676_*3677insCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGT CCACCCACTGCGGGCCCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3274		chr19	TogoVar
CHRM2_chr7_136863652_137025213	136867851	T T	TATATATA others(95): Show TATATATATATATATATATATATATATATATATATATATATTCTGGATAT ATATATCCTGGACATATATATATATATATATTCTGGATATATATATCCTG GAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00423.hp1 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0282 a0001c0001t0005g0142 a0001c0001t0001g0282 a0001c0001t0005g0142	2	320	0.0063	102	c.-14 others(113): Show c.-1424_-1423insATATATATATATATATATATATATATATATATAT ATATATTCTGGATATATATATCCTGGACATATATATATATATATATTCTG GATATATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		800		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867853	T T	TATATATA others(95): Show TATATATATATATATATATATATATATATATATATATATATTCTGGATAT ATATATCCTGGACATATATATATATATATATTCTGGATATATATATCCTG GAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 NA18952.hp2 NA19063.hp2 others(1): Show HG00323.hp1 NA18952.hp2 NA19063.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0058 a0001c0001t0068 a0001c0001t0001 a0001c0001t0058 a0001c0001t0068	a0001c0001t0001g0121 a0001c0001t0001g0190 a0001c0001t0058g0237 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0190 a0001c0001t0058g0237 a0001c0001t0068g0167	4	320	0.0125	102	c.-14 others(113): Show c.-1422_-1421insATATATATATATATATATATATATATATATATAT ATATATTCTGGATATATATATCCTGGACATATATATATATATATATTCTG GATATATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		798		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867853	T T	TCCTGGAC others(95): Show TCCTGGACATATATATATATATATATATATATATATATATATCTGGATAT ATATATCCTGGACATATATATATATATATATTCTGGATATATATATCCTG GAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0305 a0001c0001t0007g0305	1	320	0.0031	102	c.-14 others(113): Show c.-1422_-1421insCCTGGACATATATATATATATATATATATATATA TATATATCTGGATATATATATCCTGGACATATATATATATATATATTCTG GATATATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		798		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136972729	T T	TGATGGTG others(95): Show TGATGGTGACGGTGTTAGGGATGCTGGCAGGTGACGATGGTGACGGTGTT AGGGATGGTGGCAGGTGACGATGGTGACGGTGTTAGGGATGGTGGCAGGT GAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0083 a0005c0008t0083	a0005c0008t0083g0104 a0005c0008t0083g0104	1	320	0.0031	102	c.-12 others(123): Show c.-124-19436_-124-19435insCTGGCAGGTGACGATGGTGACGGT GTTAGGGATGGTGGCAGGTGACGATGGTGACGGTGTTAGGGATGGTGGCA GGTGACGATGGTGACGGTGTTAGGGATG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136972729	T T	TGATGGTG others(95): Show TGATGGTGACGGTGTTAGGGATGGTGGCAGGTGACGATGGTGACGGTGTT AGGGATGGTGGCAGGTGACGATGGTGACGGTGTTAGGGATGGTGGCAGGT GAC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	320	0.0031	102	c.-12 others(123): Show c.-124-19186_-124-19085dupCGATGGTGACGGTGTTAGGGATGG TGGCAGGTGACGATGGTGACGGTGTTAGGGATGGTGGCAGGTGACGATGG TGACGGTGTTAGGGATGGTGGCAGGTGA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRNA4_chr20_63338223_63366349	63353901	T T	TAGGTGGG others(95): Show TAGGTGGGGCTGTGGTACTGGGGGGACTGTGGTCCTAGCGGGCTGTGGTC CTGGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCC TAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0133 a0001c0003t0036g0133	1	168	0.0060	102	c.383 others(119): Show c.383+2073_383+2074insCTAGGACCACAGCCCCCCAGGACCACAG CCCCCCAGGACCACAGCCCCCCCAGGACCACAGCCCGCTAGGACCACAGT CCCCCCAGTACCACAGCCCCACCT	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63353907	G G	GGGCTGTG others(95): Show GGGCTGTGGTACTGGGGGGACTGTGGTCCTAGCGGGCTGTGGTCCTGGGG GGGCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAGAGG GGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG02735.hp2 others(4): Show HG00140.hp2 HG01109.hp1 HG02735.hp2 HG04204.hp1 HG04228.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0025 a0001c0001t0004 a0001c0002t0001 a0001c0002t0025	a0001c0001t0004g0084 a0001c0002t0001g0050 a0001c0002t0001g0053 others(4): Show a0001c0001t0004g0084 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0062 a0001c0002t0001g0098 a0001c0002t0025g0096	7	168	0.0417	102	c.383 others(119): Show c.383+2067_383+2068insGCCCCTCTAGGACCACAGCCCCCCAGGA CCACAGCCCCCCAGGACCACAGCCCCCCCAGGACCACAGCCCGCTAGGAC CACAGTCCCCCCAGTACCACAGCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHST8_chr19_33616953_33778506	33760264	G G	GCCCTTTC others(95): Show GCCCTTTCTTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCTCTCTCTTCTTTCTCTTTCTTTCCCTTTCCTCCCCTCCCTCCCTC CCT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	254	0.0039	102	c.131 others(121): Show c.131-11144_131-11143insTCTTCCCTCCCTCTCTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCTCTCTCTTCTTTCTCTTTCTTTCCCTT TCCTCCCCTCCCTCCCTCCCTCCCTT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIP2A_chr3_108544864_108594438	108575519	C C	CATATATA others(95): Show CATATATACACGTATATATACTCATATACATGTGTATATATACACGTATA TATACTCATATACATGTGTATATATACACGTATATATACTCATATACATG TGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0354 a0006c0007t0003g0354	1	372	0.0027	102	c.894 others(117): Show c.894+751_894+752insACACATGTATATGAGTATATATACGTGTAT ATATACACATGTATATGAGTATATATACGTGTATATATACACATGTATAT GAGTATATATACGTGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(95): Show CGTATATATACTCATATACATGTGTATATATACACGTATATATACTCATA TACATGTGTATATATACACGTATATATACTCATATACATGTGTATATATA CGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0149 a0004c0004t0005g0149	1	372	0.0027	102	c.894 others(117): Show c.894+741_894+742insACGTATATATACACATGTATATGAGTATAT ATACGTGTATATATACACATGTATATGAGTATATATACGTGTATATATAC ACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(95): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA GAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0136 a0001c0001t0054g0136	1	454	0.0022	102	c.21 others(111): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(95): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA GAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0102 a0001c0001t0050g0102	1	454	0.0022	102	c.21 others(111): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCT TTCTTTCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CNBD1_chr8_86861415_87387859	87156273	G G	GTGTGTGT others(95): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATACATATATATATATATATAT ATATATATATATATATATATATATATATGTTTTTTTTTTTTTGAGACAGA GTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	152	0.0066	102	c.432 others(121): Show c.432-49719_432-49718insGTGTGTGTGTGTGTGTGTGTGTATAT ATACATATATATATATATATATATATATATATATATATATATATATATAT GTTTTTTTTTTTTTGAGACAGAGTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNOT3_chr19_54132762_54160681	54133793	T T	TCTCTCTC others(95): Show TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0011 a0001c0006t0001g0011	2	223	0.0090	102	c.-42 others(113): Show c.-4251_-4250insCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTC CACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3968		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133822	T T	TCTCTCTC others(95): Show TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCT CCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	223	0.0045	102	c.-42 others(113): Show c.-4222_-4221insCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3939		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(95): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCT CTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	223	0.0045	102	c.-42 others(113): Show c.-4215_-4214insCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCT CCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133833	C C	CTCCCTCT others(95): Show CTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCA CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	223	0.0090	102	c.-42 others(113): Show c.-4211_-4210insTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTC ACTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCA CCTCCCCTCACTCCACCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3928		chr19	TogoVar
CNR2_chr1_23865515_23918362	23899908	A A	AAAGGAAG others(95): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAAGAAAAAAAAGAAAGAAAAGAAAGAAAG AGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0233 a0002c0002t0015g0233	1	268	0.0037	102	c.-46 others(121): Show c.-46+13337_-46+13338insCCTCTTTCTTTCTTTTCTTTCTTTTT TTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COG3_chr13_45459939_45541701	45513348	T T	TACATATA others(95): Show TACATATAATATATATATAAATTATATATAATATATACATATAAATTATA CATATAATATATACATATAAATTATACATATAATATATACATATAAATTA TAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0229 a0001c0002t0001g0230	2	342	0.0059	102	c.180 others(121): Show c.1809+1495_1809+1496insCATATAATATATATATAAATTATATA TAATATATACATATAAATTATACATATAATATATACATATAAATTATACA TATAATATATACATATAAATTATACA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45540162	T T	TCAGGGTT others(95): Show TCAGGGTTGGAGAGAGCCTCTGGGGCTGTGCAGGAAGCGTGTGGGATCCA GGCAGGGTTGGAGAGAGCCTCTGGGGCTGTGCAGGAAGCGTGTGGGATCC AGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02896.hp1 others(3): Show HG02622.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 NA18970.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0239 a0001c0002t0001g0303	6	342	0.0175	102	c.54 others(113): Show c.5431_*5432insCAGGGTTGGAGAGAGCCTCTGGGGCTGTGCAGGA AGCGTGTGGGATCCAGGCAGGGTTGGAGAGAGCCTCTGGGGCTGTGCAGG AAGCGTGTGGGATCCAGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding		3462		chr13	TogoVar
COG3_chr13_45459939_45541701	45540191	G G	GCAGGAAG others(95): Show GCAGGAAGCGTGTGGGATCCAGGCAGGGTTGGAGAGAGCCTCTGGGGCTG TGCAGGAAGCGTGTGGGATCCAGGCAGGGTTGGAGAGAGCCTCTGGGGCT GTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(44): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG01069.hp2 HG01081.hp1 HG01433.hp1 HG01943.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02559.hp1 HG02630.hp1 HG02683.hp1 HG02723.hp2 HG02965.hp1 HG03471.hp1 HG03540.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18943.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18962.hp1 NA18968.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19043.hp1 NA19082.hp2 NA19089.hp1 NA19091.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0001c0014 a0007c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 a0001c0011t0001 a0001c0014t0001 a0007c0017t0001	a0001c0001t0001g0055 a0001c0001t0001g0115 a0001c0001t0001g0119 others(44): Show a0001c0001t0001g0055 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0002t0001g0203 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0253 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0263 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0291 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0302 a0001c0002t0001g0312 a0001c0002t0001g0317 a0001c0002t0001g0322 a0001c0002t0001g0331 a0001c0002t0009g0279 a0001c0011t0001g0246 a0001c0014t0001g0261 a0007c0017t0001g0285	47	342	0.1374	102	c.54 others(113): Show c.5460_*5461insCAGGAAGCGTGTGGGATCCAGGCAGGGTTGGAGA GAGCCTCTGGGGCTGTGCAGGAAGCGTGTGGGATCCAGGCAGGGTTGGAG AGAGCCTCTGGGGCTGTA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding		3491		chr13	TogoVar
COL19A1_chr6_69861556_70217468	69921491	T T	TATATATT others(95): Show TATATATTCATATATATTCATATATTCATATATATTCATATATATTCATA TATTCATATATATTCATATATATTCATATATTCATATATATTCATATATA TTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0001 a0010c0021t0001	a0010c0021t0001g0052 a0010c0021t0001g0052	1	182	0.0055	102	c.267 others(119): Show c.267-6396_267-6395insATTCATATATATTCATATATATTCATAT ATTCATATATATTCATATATATTCATATATTCATATATATTCATATATAT TCATATATTCATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL22A1_chr8_138583235_138919041	138743273	A A	ATGATGAT others(95): Show ATGATGATGGTGGAGATGATGGTGATGGTGTAGTTGATGAGGGTGATGGT GGTAGTGATTGTGATGGTGATGGTGGAGTTGATGGTGATGGTGATGGTAG AGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0002 a0001c0044t0002	a0001c0044t0002g0065 a0001c0044t0002g0065	1	158	0.0063	102	c.208 others(121): Show c.2086-5798_2086-5697dupACTCTACCATCACCATCACCATCAAC TCCACCATCACCATCACAATCACTACCACCATCACCCTCATCAACTACAC CATCACCATCATCTCCACCATCATCA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	22/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138743375	T T	TTGATGAT others(95): Show TTGATGATGGTAGTAGTGATTGTGATGGTGGAGTTGATGGTGATGGTGGT AGTGACTGTGATGGTGATGGTGGAGTTGATGGTGATGGTGATGGTAGAGT TGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp2 HG02451.hp1 others(14): Show HG00741.hp1 HG01884.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG06807.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0008 a0001c0012 a0001c0016 others(10): Show a0001c0008 a0001c0012 a0001c0016 a0001c0017 a0001c0024 a0001c0027 a0001c0056 a0001c0057 a0002c0022 a0002c0052 a0003c0033 a0004c0040 a0010c0030	a0001c0008t0002 a0001c0012t0001 a0001c0012t0005 others(14): Show a0001c0008t0002 a0001c0012t0001 a0001c0012t0005 a0001c0016t0001 a0001c0017t0005 a0001c0024t0004 a0001c0024t0016 a0001c0027t0001 a0001c0027t0002 a0001c0056t0004 a0001c0057t0009 a0002c0022t0001 a0002c0022t0002 a0002c0052t0002 a0003c0033t0002 a0004c0040t0004 a0010c0030t0004	a0001c0008t0002g0133 a0001c0012t0001g0037 a0001c0012t0005g0143 others(14): Show a0001c0008t0002g0133 a0001c0012t0001g0037 a0001c0012t0005g0143 a0001c0016t0001g0132 a0001c0017t0005g0152 a0001c0024t0004g0136 a0001c0024t0016g0158 a0001c0027t0001g0024 a0001c0027t0002g0022 a0001c0056t0004g0039 a0001c0057t0009g0048 a0002c0022t0001g0040 a0002c0022t0002g0028 a0002c0052t0002g0058 a0003c0033t0002g0015 a0004c0040t0004g0035 a0010c0030t0004g0021	17	158	0.1076	102	c.208 others(121): Show c.2086-5799_2086-5798insTCAACTCTACCATCACCATCACCATC AACTCCACCATCACCATCACAGTCACTACCACCATCACCATCAACTCCAC CATCACAATCACTACTACCATCATCA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	22/64			chr8	TogoVar
COL4A2_chr13_110302284_110518209	110313664	C C	CCCACCCC others(95): Show CCCACCCCGGTGCCCCGCGTCCACCCGGCAGGCTCCCACCCCGGTGCCCC GCGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGTCCACCCGGCAGG CTA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0035 a0003c0007t0035	a0003c0007t0035g0025 a0003c0007t0035g0025	1	372	0.0027	102	c.99+ others(117): Show c.99+5548_99+5549insGGTGCCCCGCGTCCACCCGGCAGGCTCCCA CCCCGGTGCCCCGCGTCCACCCGGCAGGCTCCCACCCCGGTGCCCCGCGT CCACCCGGCAGGCTACCACCCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202888	T T	TGTATATA others(95): Show TGTATATATACGTATATATACATATATGTGTATATATACGTATATATACA TATATGTGTATATATACGTATATATACATATATGTGTATATACGTATATA TAC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	344	0.0029	102	c.88- others(119): Show c.88-35080_88-35079insGTATATATACGTATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACGTATATATACAT ATATGTGTATATACGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202990	T T	TGTATATA others(95): Show TGTATATATACATATATGTGTATATATGTGTATATATACATATATACATA TATGTGTATATATACGTATATATACATATATGTGTATATATACGTATATA TAC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0260 a0003c0011t0001g0260	1	344	0.0029	102	c.88- others(119): Show c.88-34978_88-34977insGTATATATACATATATGTGTATATATGT GTATATATACATATATACATATATGTGTATATATACGTATATATACATAT ATGTGTATATATACGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203018	T T	TATATATA others(95): Show TATATATACATATATGTGTATATATGTGTATATATACATATATATACATA TATGTGTATATATACGTATATATACATATATGTGTATATATACGTATATA TAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18980.hp2 HG02071.hp1 NA18980.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0003 a0003c0002t0001 a0003c0002t0003	a0003c0002t0001g0229 a0003c0002t0003g0089 a0003c0002t0001g0229 a0003c0002t0003g0089	2	344	0.0058	102	c.88- others(119): Show c.88-34944_88-34943insACATATATGTGTATATATGTGTATATAT ACATATATATACATATATGTGTATATATACGTATATATACATATATGTGT ATATATACGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar

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