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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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
CDH1_chr16_68732292_68840537	68745584	A A	ATATATAT others(39): Show ATATATATGTATGTGTAATATATGTGTATATATATGTATGTATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0209 a0001c0015t0001g0209	1	316	0.0032	46	c.163 others(63): Show c.163+7173_163+7174insTATATATGTATGTGTAATATATGTGTAT ATATATGTATGTATATAT	CDH1	ENSG00000039068.20	transcript	ENST00000261769.10	protein_coding	2/15			chr16	TogoVar
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(39): Show CTTCCTTCGTTCGTTCCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	318	0.0031	46	c.166 others(65): Show c.1664-3556_1664-3555insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAAGGAACGAACGAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH4_chr20_61247261_61945617	61565241	G G	GGCGGTGC others(39): Show GGCGGTGCTCTTGGTGGTAGGTGGTGGTGGTGGTGGTGGTGGTGGTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0021 a0002c0004t0013g0021	1	106	0.0094	46	c.170 others(67): Show c.170-178307_170-178306insGTAGGTGGTGGTGGTGGTGGTGGT GGTGGTCGCGGTGCTCTTGGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61647536	T T	TCTCTCTC others(39): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG02809.hp1 HG00738.hp1 HG01081.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0022 a0001c0003 a0001c0006 a0001c0022	a0001c0003t0032 a0001c0006t0049 a0001c0022t0042 a0001c0003t0032 a0001c0006t0049 a0001c0022t0042	a0001c0003t0032g0040 a0001c0006t0049g0071 a0001c0022t0042g0072 a0001c0003t0032g0040 a0001c0006t0049g0071 a0001c0022t0042g0072	3	106	0.0283	46	c.170 others(65): Show c.170-96024_170-96023insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61854593	C C	CTTGGTCC others(39): Show CTTGGTCCACCCCCAGGGCTGCAGTGTGAACAGGGTGAATTGCACCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(4): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG01106.hp1 HG02040.hp2 HG02148.hp1 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0021 a0002c0002 others(3): Show a0001c0001 a0001c0021 a0002c0002 a0002c0004 a0002c0009 a0002c0024	a0001c0001t0014 a0001c0021t0008 a0002c0002t0012 others(4): Show a0001c0001t0014 a0001c0021t0008 a0002c0002t0012 a0002c0002t0039 a0002c0004t0002 a0002c0009t0035 a0002c0024t0047	a0001c0001t0014g0106 a0001c0021t0008g0047 a0002c0002t0012g0082 others(4): Show a0001c0001t0014g0106 a0001c0021t0008g0047 a0002c0002t0012g0082 a0002c0002t0039g0058 a0002c0004t0002g0080 a0002c0009t0035g0026 a0002c0024t0047g0051	7	106	0.0660	46	c.877 others(63): Show c.877+1702_877+1703insACCCCCAGGGCTGCAGTGTGAACAGGGT GAATTGCACCTTTGGTCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65844174	G G	GATTTATA others(39): Show GATTTATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0092 a0002c0002t0003g0092	1	208	0.0048	46	c.123 others(63): Show c.1235+111_1235+112insTTATATATATATATATATATATATATAT ATATATATATATATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65844174	G G	GATTTTTA others(39): Show GATTTTTATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0003 a0002c0002t0015g0003	1	208	0.0048	46	c.123 others(63): Show c.1235+111_1235+112insTTTTATATATATATATATATATATATAT ATATATATATATATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDIN1_chr15_36574626_36815244	36703219	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03239.hp2 NA18969.hp2 HG01192.hp2 HG03239.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0009g0030 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0009g0030	3	238	0.0126	46	c.544 others(63): Show c.544+5843_544+5844insATATATATATATATATATATATATATAT ATATATATATATATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTATGT others(39): Show GTGTATGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0046 a0001c0001t0007g0046	1	388	0.0026	46	c.15 others(57): Show c.1559_*1560insTGTATGTGTGTGTGTGTGTGTGTGTATATATATA TATATATATATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	388	0.0026	46	c.15 others(57): Show c.1559_*1560insTGTGTGTGTGTGTGTGTGTGTGTATATATATATA TATATATATATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK19_chr6_110604978_110820469	110607056	C C	CCTCCAGG others(39): Show CCTCCAGGGGATTGCCAATCAACATGAGATTTTGCGGTGGGGACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	300	0.0033	46	c.74 others(57): Show c.7478_*7479insAGTGTCCCCACCGCAAAATCTCATGTTGATTGGC AATCCCCTGGAG	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding		2921		chr6	TogoVar
CDK5_chr7_151048815_151062897	151062210	A A	ATACCCCC others(39): Show ATACCCCCACTACCCATCCCCCCCTACGACCATCATGCAAAGTCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	416	0.0024	46	c.-43 others(57): Show c.-4363_-4362insCCTGACTTTGCATGATGGTCGTAGGGGGGGATGG GTAGTGGGGGTA	CDK5	ENSG00000164885.13	transcript	ENST00000485972.6	protein_coding		4314		chr7	TogoVar
CDKAL1_chr6_20529457_21237404	20799040	G G	GTTTTTTT others(39): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	196	0.0051	46	c.638 others(65): Show c.638+17804_638+17805insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN2A_chr9_21962752_21999392	21981008	A A	ATATATAT others(39): Show ATATATATACACGTGTATATATATACACGTGTATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01071.hp2 others(3): Show HG00323.hp1 HG01069.hp1 HG01071.hp2 HG01168.hp2 HG03579.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0055 a0001c0001t0003g0056 others(2): Show a0001c0001t0003g0004 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0061 a0001c0001t0003g0279	6	404	0.0149	46	c.194 others(63): Show c.194-9801_194-9800insCACGTGTATATATATACACGTGTATATA TATACACGTGTATATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDYL2_chr16_80592907_80809598	80806937	A A	ACCATATT others(39): Show ACCATATTTCTTCTAGAATTTGTTTTCTACAGTGCACTTTTGATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	258	0.0039	46	c.-27 others(57): Show c.-2765_-2764insACTATCAAAAGTGCACTGTAGAAAACAAATTCTA GAAGAAATATGG	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding		2340		chr16	TogoVar
CEACAM1_chr19_42502306_42533481	42513915	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0168 a0002c0003t0002g0168	1	290	0.0035	46	c.124 others(65): Show c.1247-1437_1247-1436insTTATTTATATATATATATATATATAT ATATATATATATATATATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518104	A A	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0048 a0003c0012t0001g0048	1	438	0.0023	46	c.103 others(63): Show c.1031-881_1031-880insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11			chr19	TogoVar
CELSR1_chr22_46356174_46542620	46509528	G G	GAGGGGCT others(39): Show GAGGGGCTAGGGGACATTTGGCAAGGTCTGAAACATTTTGGGTCATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00609.hp1 others(58): Show HG00099.hp1 HG00099.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG02027.hp1 HG02027.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03579.hp2 HG03654.hp2 HG03834.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18970.hp1 NA18995.hp1 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19066.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0014 a0016 a0018 a0019 a0023 a0025 a0026 a0029 a0031 a0035 a0036 a0038 a0040 a0042 a0045 a0047 a0049 a0050	a0001c0001 a0001c0002 a0001c0006 others(33): Show a0001c0001 a0001c0002 a0001c0006 a0001c0025 a0001c0027 a0001c0028 a0001c0031 a0002c0016 a0002c0051 a0003c0005 a0004c0003 a0006c0017 a0006c0026 a0007c0023 a0008c0014 a0008c0033 a0009c0053 a0009c0054 a0014c0055 a0016c0047 a0018c0046 a0019c0041 a0023c0042 a0025c0024 a0026c0038 a0029c0037 a0031c0022 a0035c0057 a0036c0056 a0038c0007 a0040c0067 a0042c0061 a0045c0059 a0047c0063 a0049c0062 a0050c0070	a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 others(37): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0006t0001 a0001c0025t0001 a0001c0027t0001 a0001c0028t0001 a0001c0031t0001 a0002c0016t0003 a0002c0051t0003 a0003c0005t0002 a0004c0003t0001 a0004c0003t0015 a0006c0017t0001 a0006c0026t0001 a0007c0023t0001 a0008c0014t0002 a0008c0033t0002 a0009c0053t0001 a0009c0054t0001 a0014c0055t0001 a0016c0047t0001 a0018c0046t0001 a0019c0041t0010 a0023c0042t0002 a0025c0024t0001 a0026c0038t0008 a0029c0037t0006 a0031c0022t0004 a0035c0057t0001 a0036c0056t0001 a0038c0007t0001 a0040c0067t0009 a0042c0061t0002 a0045c0059t0001 a0047c0063t0003 a0049c0062t0013 a0050c0070t0007	a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0041 others(58): Show a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0012g0034 a0001c0001t0014g0060 a0001c0001t0016g0069 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0006t0001g0064 a0001c0025t0001g0070 a0001c0027t0001g0040 a0001c0028t0001g0079 a0001c0031t0001g0047 a0002c0016t0003g0025 a0002c0051t0003g0053 a0003c0005t0002g0065 a0004c0003t0001g0009 a0004c0003t0015g0010 a0006c0017t0001g0018 a0006c0026t0001g0048 a0007c0023t0001g0042 a0008c0014t0002g0016 a0008c0033t0002g0050 a0009c0053t0001g0090 a0009c0054t0001g0089 a0014c0055t0001g0091 a0016c0047t0001g0035 a0018c0046t0001g0030 a0019c0041t0010g0068 a0023c0042t0002g0054 a0025c0024t0001g0046 a0026c0038t0008g0026 a0029c0037t0006g0002 a0031c0022t0004g0039 a0035c0057t0001g0093 a0036c0056t0001g0092 a0038c0007t0001g0004 a0040c0067t0009g0104 a0042c0061t0002g0097 a0045c0059t0001g0094 a0047c0063t0003g0099 a0049c0062t0013g0100 a0050c0070t0007g0003	61	104	0.5865	46	c.354 others(67): Show c.3544+24098_3544+24099insGATGACCCAAAATGTTTCAGACCT TGCCAAATGTCCCCTAGCCCCT	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CEMIP2_chr9_71678366_71773513	71728267	A A	ATATATAT others(39): Show ATATATATATATATATACGTATATACACGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0305 a0001c0001t0008g0305	1	320	0.0031	46	c.204 others(65): Show c.2049+1577_2049+1578insCATATATATATATATATACGTGTATA TACGTATATATATATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728287	A A	ACACGTAT others(39): Show ACACGTATATATATATATATATGTATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG03516.hp2 others(1): Show HG01884.hp1 HG02970.hp1 HG03516.hp2 HG03579.hp1	a0001 a0006 a0016 a0001 a0006 a0016	a0001c0001 a0006c0006 a0016c0031 a0001c0001 a0006c0006 a0016c0031	a0001c0001t0020 a0006c0006t0004 a0006c0006t0009 others(1): Show a0001c0001t0020 a0006c0006t0004 a0006c0006t0009 a0016c0031t0026	a0001c0001t0020g0312 a0006c0006t0004g0296 a0006c0006t0009g0259 others(1): Show a0001c0001t0020g0312 a0006c0006t0004g0296 a0006c0006t0009g0259 a0016c0031t0026g0261	4	320	0.0125	46	c.204 others(65): Show c.2049+1557_2049+1558insCGTATATATATATATATATATATACA TATATATATATATATACGTG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728289	A A	ACGTATAT others(39): Show ACGTATATATATATATATATGTATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18994.hp2 NA18981.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0103 a0001c0001t0001g0115	2	320	0.0063	46	c.204 others(65): Show c.2049+1555_2049+1556insCGTATATATATATATATATATATATA CATATATATATATATATACG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CENPJ_chr13_24877279_24927861	24881982	A A	ATATATAG others(39): Show ATATATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0013 a0004c0006t0013	a0004c0006t0013g0093 a0004c0006t0013g0093	1	440	0.0023	46	c.11 others(57): Show c.1194_*1195insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		296		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882088	A A	ATATATAG others(39): Show ATATATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG02257.hp2 others(1): Show HG00738.hp2 HG01074.hp2 HG02257.hp2 HG02559.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0006 a0006c0008t0006	a0006c0008t0006g0014 a0006c0008t0006g0081 a0006c0008t0006g0083 a0006c0008t0006g0014 a0006c0008t0006g0081 a0006c0008t0006g0083	4	440	0.0091	46	c.10 others(57): Show c.1088_*1089insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		190		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882089	T T	TATAGATA others(39): Show TATAGATACATCTATATAGATACATCTATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 NA18986.hp2 HG02004.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0254 a0001c0002t0007g0237 a0001c0002t0001g0254 a0001c0002t0007g0237	2	440	0.0046	46	c.10 others(57): Show c.1087_*1088insCTATATAGATGTATCTATATAGATGTATCTATAT AGATGTATCTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		189		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882133	G G	GATATATA others(39): Show GATATATAGATACATCTATATAGATACATCTATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0025 a0001c0002t0007g0025	1	440	0.0023	46	c.10 others(57): Show c.1043_*1044insATAGATGTATCTATATAGATGTATCTATATAGAT GTATCTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		145		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882169	G G	GATATATA others(39): Show GATATATACATCTATATAGATACATCTATATAGATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	440	0.0023	46	c.10 others(57): Show c.1007_*1008insATAGATGTATCTATCTATATAGATGTATCTATAT AGATGTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		109		chr13	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTATACATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	260	0.0039	46	c.467 others(63): Show c.467+6719_467+6720insGTGTGTGTGTATACATATATATATATAT ATATATATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567373	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	260	0.0039	46	c.565 others(65): Show c.565-43918_565-43917insTATATATATATATAGATATAGATATA TATATATATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567373	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATAGAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	260	0.0039	46	c.565 others(65): Show c.565-43918_565-43917insTATATATATATATATATATAGATATA TATATATATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP20_chr16_15860719_15893603	15888779	T T	TCGGAAGG others(39): Show TCGGAAGGCCCAGTTGAGTGAGACGGCAGGGAGGGCGGGGACTGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0009 a0002c0002t0004g0009	1	433	0.0023	46	c.-19 others(55): Show c.-195_-194insCCTCAGTCCCCGCCCTCCCTGCCGTCTCACTCAACT GGGCCTTCCG	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		177		chr16	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(39): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0044 a0012c0012t0001g0044	1	430	0.0023	46	c.-10 others(57): Show c.-1057_-1056insCACACACACACACACACACACACACACACACACA CACACACACACA	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		891		chr17	TogoVar
CERCAM_chr9_128415857_128442347	128437914	C C	CACACACG others(39): Show CACACACGTATATACACGTATATACACACACGTATATACACGTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	400	0.0025	46	c.10 others(57): Show c.1066_*1067insACACACGTATATACACGTATATACACACACGTAT ATACACGTATAT	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		568		chr9	TogoVar
CERS3_chr15_100395395_100533950	100466808	C C	CCTCTCCC others(39): Show CCTCTCCCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp2 HG03688.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0281 a0001c0001t0002g0242 a0001c0001t0002g0281	2	362	0.0055	46	c.845 others(63): Show c.845+2569_845+2570insAGAGAGAAAGAGAGAAAGAGAGAAAGAG AGAGAGAGAGAGGGAGAG	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466809	C C	CTCTCCCT others(39): Show CTCTCCCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp2 HG02300.hp1 others(10): Show HG01175.hp1 HG01192.hp2 HG02300.hp1 HG02698.hp2 NA18942.hp2 NA18956.hp2 NA18965.hp2 NA18982.hp2 NA18993.hp1 NA19007.hp2 NA19056.hp2 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 a0001c0001t0001 a0001c0001t0002 a0001c0007t0002	a0001c0001t0001g0278 a0001c0001t0002g0019 a0001c0001t0002g0020 others(10): Show a0001c0001t0001g0278 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0064 a0001c0001t0002g0087 a0001c0001t0002g0100 a0001c0001t0002g0252 a0001c0001t0002g0261 a0001c0001t0002g0268 a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0294 a0001c0007t0002g0287	13	362	0.0359	46	c.845 others(63): Show c.845+2568_845+2569insAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAGAGAGAGAGAGGGAGA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS5_chr12_50124289_50172369	50156420	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01993.hp2 HG02809.hp1 others(1): Show HG01256.hp2 HG01993.hp2 HG02809.hp1 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0007 a0002c0003t0003 a0001c0001t0004 a0001c0001t0007 a0002c0003t0003	a0001c0001t0004g0097 a0001c0001t0007g0140 a0002c0003t0003g0041 others(1): Show a0001c0001t0004g0097 a0001c0001t0007g0140 a0002c0003t0003g0041 a0002c0003t0003g0042	4	320	0.0125	46	c.197 others(65): Show c.197+10680_197+10681insTATATATATATATATATATATATATA TATATATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50156437	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02280.hp1 NA18953.hp1 others(3): Show HG01074.hp2 HG02280.hp1 NA18953.hp1 NA18978.hp2 NA19010.hp2 NA19078.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0017 a0002c0003t0003 a0002c0003t0017	a0002c0003t0003g0023 a0002c0003t0003g0054 a0002c0003t0003g0060 others(3): Show a0002c0003t0003g0023 a0002c0003t0003g0054 a0002c0003t0003g0060 a0002c0003t0003g0071 a0002c0003t0003g0078 a0002c0003t0017g0055	6	320	0.0188	46	c.197 others(65): Show c.197+10663_197+10664insTTATATATATATATATATATATATAT ATATATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 NA18977.hp2 HG02109.hp1 HG02647.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011	a0001c0001t0002g0141 a0001c0001t0009g0041 a0001c0001t0011g0081 a0001c0001t0002g0141 a0001c0001t0009g0041 a0001c0001t0011g0081	3	176	0.0171	46	c.277 others(63): Show c.277-1459_277-1458insTATATATATATATATATATATATATATA TATATATATATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CFAP276_chr1_109100951_109117747	109113411	A A	AGAGAGAG others(39): Show AGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03130.hp1 HG01891.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	2	404	0.0050	46	c.-73 others(55): Show c.-733_-732insCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC TCTCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		665		chr1	TogoVar
CFAP299_chr4_80330730_80968750	80800167	A A	ATATATAA others(39): Show ATATATAATAATATATCATACTATATAATATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01168.hp1 HG02523.hp1 others(3): Show HG00423.hp2 HG01168.hp1 HG02523.hp1 HG02735.hp2 NA18950.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0039 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0063 a0001c0004t0001g0094 a0001c0004t0001g0095	6	96	0.0625	46	c.334 others(65): Show c.334-69822_334-69821insTAATAATATATCATACTATATAATAT AATATATAATATATATTATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP47_chrX_35914734_36390317	35923874	T T	TATATATG others(39): Show TATATATGTACATATATGTATACACATATATATGTGTATATATGTAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18522.hp1 HG02809.hp2 NA18522.hp1	a0007 a0011 a0007 a0011	a0007c0077 a0011c0076 a0007c0077 a0011c0076	a0007c0077t0001 a0011c0076t0001 a0007c0077t0001 a0011c0076t0001	a0007c0077t0001g0140 a0011c0076t0001g0141 a0007c0077t0001g0140 a0011c0076t0001g0141	2	216	0.0093	46	c.250 others(63): Show c.250-2127_250-2126insGTATACACATATATATGTGTATATATGT ACATATATGTACATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	316	0.0032	46	c.117 others(65): Show c.1175-1857_1175-1856insAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP61_chr20_20047532_20365698	20269164	C C	CATATGTA others(39): Show CATATGTATATATACACATATATACATATATGTATATATACACATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	236	0.0042	46	c.250 others(65): Show c.2503+6037_2503+6038insTGTATATATACACATATATACATATA TGTATATATACACATATATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20354913	G G	GGGAGGTA others(39): Show GGGAGGTAGTCACACTGTGAGAGGGGAGGTGGTCAGACTCTGTCAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0021 a0001c0006t0003g0021	1	236	0.0042	46	c.351 others(65): Show c.3514-5291_3514-5290insAGTCACACTGTGAGAGGGGAGGTGGT CAGACTCTGTCAGAGGAGGT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20354913	G G	GGGAGGTG others(39): Show GGGAGGTGGTCACACTGTGAGAGGGGAGGTGGTCAGACTCTGTCAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026	a0001c0001 a0001c0003 a0001c0006 others(40): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0012 a0001c0015 a0001c0024 a0001c0026 a0001c0027 a0001c0039 a0001c0045 a0002c0002 a0002c0004 a0002c0009 a0002c0022 a0002c0032 a0002c0034 a0002c0035 a0003c0005 a0003c0046 a0004c0008 a0005c0013 a0005c0025 a0006c0011 a0007c0010 a0008c0017 a0008c0020 a0009c0014 a0010c0016 a0011c0018 a0012c0019 a0014c0031 a0015c0047 a0016c0033 a0017c0037 a0019c0038 a0020c0040 a0021c0041 a0022c0042 a0023c0044 a0024c0029 a0025c0028 a0026c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0007t0002 a0001c0012t0002 a0001c0012t0006 a0001c0015t0002 a0001c0024t0008 a0001c0026t0001 a0001c0027t0001 a0001c0039t0003 a0001c0045t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0006 a0002c0009t0001 a0002c0009t0002 a0002c0022t0002 a0002c0032t0001 a0002c0034t0002 a0002c0035t0001 a0003c0005t0001 a0003c0005t0002 a0003c0046t0001 a0004c0008t0001 a0004c0008t0002 a0005c0013t0002 a0005c0025t0005 a0006c0011t0002 a0007c0010t0003 a0008c0017t0002 a0008c0020t0002 a0009c0014t0006 a0009c0014t0007 a0010c0016t0002 a0011c0018t0003 a0012c0019t0003 a0014c0031t0002 a0015c0047t0002 a0016c0033t0001 a0017c0037t0005 a0019c0038t0001 a0020c0040t0002 a0021c0041t0001 a0022c0042t0003 a0023c0044t0001 a0024c0029t0003 a0025c0028t0001 a0026c0030t0002	a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0078 others(206): Show a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0236 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0002g0091 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0173 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0235 a0001c0001t0003g0060 a0001c0001t0003g0095 a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0001t0004g0003 a0001c0001t0004g0010 a0001c0001t0004g0014 a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0171 a0001c0001t0006g0019 a0001c0003t0001g0031 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0096 a0001c0003t0001g0164 a0001c0003t0001g0196 a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0003t0001g0211 a0001c0003t0001g0214 a0001c0003t0001g0221 a0001c0003t0002g0112 a0001c0003t0003g0142 a0001c0003t0003g0175 a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0015 a0001c0006t0001g0167 a0001c0006t0001g0220 a0001c0006t0002g0224 a0001c0006t0006g0011 a0001c0007t0002g0077 a0001c0007t0002g0084 a0001c0007t0002g0222 a0001c0007t0002g0231 a0001c0007t0002g0232 a0001c0012t0002g0099 a0001c0012t0002g0172 a0001c0012t0006g0009 a0001c0015t0002g0201 a0001c0015t0002g0233 a0001c0024t0008g0176 a0001c0026t0001g0141 a0001c0027t0001g0170 a0001c0039t0003g0125 a0001c0045t0002g0074 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0051 a0002c0002t0001g0064 a0002c0002t0001g0072 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0174 a0002c0002t0001g0179 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0234 a0002c0002t0002g0002 a0002c0002t0002g0024 a0002c0002t0002g0027 a0002c0002t0002g0039 a0002c0002t0002g0045 a0002c0002t0002g0071 a0002c0002t0002g0081 a0002c0002t0002g0097 a0002c0002t0002g0103 a0002c0002t0002g0134 a0002c0002t0002g0155 a0002c0002t0002g0159 a0002c0002t0002g0182 a0002c0002t0002g0191 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0227 a0002c0002t0003g0083 a0002c0002t0003g0102 a0002c0002t0004g0001 a0002c0002t0004g0012 a0002c0002t0005g0108 a0002c0002t0005g0114 a0002c0002t0005g0137 a0002c0002t0006g0013 a0002c0002t0007g0018 a0002c0004t0001g0025 a0002c0004t0001g0065 a0002c0004t0001g0205 a0002c0004t0001g0215 a0002c0004t0001g0219 a0002c0004t0002g0087 a0002c0004t0002g0209 a0002c0004t0003g0207 a0002c0004t0004g0017 a0002c0004t0006g0020 a0002c0009t0001g0105 a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0022t0002g0049 a0002c0032t0001g0185 a0002c0034t0002g0034 a0002c0035t0001g0204 a0003c0005t0001g0080 a0003c0005t0001g0217 a0003c0005t0002g0062 a0003c0005t0002g0068 a0003c0005t0002g0069 a0003c0005t0002g0070 a0003c0005t0002g0218 a0003c0046t0001g0059 a0004c0008t0001g0055 a0004c0008t0001g0135 a0004c0008t0002g0166 a0005c0013t0002g0047 a0005c0025t0005g0140 a0006c0011t0002g0117 a0007c0010t0003g0130 a0008c0017t0002g0121 a0008c0020t0002g0123 a0009c0014t0006g0007 a0009c0014t0007g0006 a0010c0016t0002g0044 a0010c0016t0002g0165 a0011c0018t0003g0122 a0012c0019t0003g0120 a0014c0031t0002g0043 a0015c0047t0002g0168 a0016c0033t0001g0026 a0017c0037t0005g0138 a0019c0038t0001g0113 a0020c0040t0002g0160 a0021c0041t0001g0210 a0022c0042t0003g0128 a0023c0044t0001g0058 a0024c0029t0003g0132 a0025c0028t0001g0100 a0026c0030t0002g0056	209	236	0.8856	46	c.351 others(65): Show c.3514-5263_3514-5262insGACTCTGTCAGAGGAGGTGGTCACAC TGTGAGAGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356842	T T	TGTGAGTG others(39): Show TGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02622.hp1 HG02630.hp1 others(1): Show HG01433.hp2 HG02622.hp1 HG02630.hp1 HG03098.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0012 a0002c0022 a0009c0014 a0001c0012 a0002c0022 a0009c0014	a0001c0012t0002 a0002c0022t0002 a0009c0014t0006 a0001c0012t0002 a0002c0022t0002 a0009c0014t0006	a0001c0012t0002g0099 a0001c0012t0002g0172 a0002c0022t0002g0049 others(1): Show a0001c0012t0002g0099 a0001c0012t0002g0172 a0002c0022t0002g0049 a0009c0014t0006g0007	4	236	0.0170	46	c.351 others(65): Show c.3514-3367_3514-3366insTGAGTGAGGAGGTAGTCACACTGAGG GGAGGGGGTCATACTGCGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP74_chr1_1916957_2008786	1958721	G G	GGGACGAT others(39): Show GGGACGATGCACGGTCTGGTGTGGAGTCTGGGAGGATGCGGGGTCCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19030.hp1 HG02258.hp2 NA19030.hp1	a0005 a0058 a0005 a0058	a0005c0044 a0058c0092 a0005c0044 a0058c0092	a0005c0044t0001 a0058c0092t0001 a0005c0044t0001 a0058c0092t0001	a0005c0044t0001g0066 a0058c0092t0001g0037 a0005c0044t0001g0066 a0058c0092t0001g0037	2	278	0.0072	46	c.185 others(63): Show c.1851+398_1851+399insTGGACCCCGCATCCTCCCAGACTCCACA CCAGACCGTGCATCGTCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	16/38			chr1	TogoVar
CFH_chr1_196647043_196752504	196692754	C C	CCCTTCCT others(39): Show CCCTTCCTTTCTTTTTGTTTCTTTCTTTCTCTTTCCCTTCCTTTCTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02698.hp1 HG02895.hp2 others(4): Show HG01346.hp1 HG02698.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03209.hp2 HG03927.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0239 a0001c0001t0001g0240 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0294 a0002c0002t0001g0141 a0004c0004t0001g0061 a0004c0004t0001g0172	7	308	0.0227	46	c.133 others(65): Show c.1336+2515_1336+2516insCCTTCCTTTCTTTTTGTTTCTTTCTT TCTCTTTCCCTTCCTTTCTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21			chr1	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(39): Show TAATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0042 a0001c0006t0005g0042	1	354	0.0028	46	c.58- others(63): Show c.58-16988_58-16987insTATATATATATATATATATATATATATA TATATATATATATATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG01106.hp2 others(9): Show HG00323.hp1 HG01106.hp1 HG01106.hp2 HG01975.hp2 HG02738.hp2 HG03486.hp1 HG03927.hp1 NA18946.hp2 NA18956.hp2 NA18962.hp1 NA19063.hp2 NA20129.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0002 a0006c0014 a0007c0010 a0001c0002 a0006c0014 a0007c0010	a0001c0002t0001 a0006c0014t0001 a0007c0010t0001 a0001c0002t0001 a0006c0014t0001 a0007c0010t0001	a0001c0002t0001g0061 a0001c0002t0001g0068 a0001c0002t0001g0081 others(9): Show a0001c0002t0001g0061 a0001c0002t0001g0068 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0147 a0001c0002t0001g0181 a0006c0014t0001g0064 a0007c0010t0001g0062	12	354	0.0339	46	c.58- others(63): Show c.58-16989_58-16988insATATATATATATATATATATATATATAT ATATATATATATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFTR_chr7_117475025_117673665	117612013	A A	ATATATAT others(39): Show ATATATATATATGTATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0005 a0010c0018t0005	a0010c0018t0005g0028 a0010c0018t0005g0028	1	202	0.0050	46	c.336 others(63): Show c.3367+214_3367+215insATGTATATATATATATATATATATATAT ATATATATGTATATATAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar

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