Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDH4_chr20_61247261_61945617	61943613	C C	CGTCTGCA others(43): Show CGTCTGCACCGTGGCCACCCCTTCTCACCGATGATGAGGAGCACTGCGAC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02922.hp1 HG03209.hp1 HG01255.hp2 HG02922.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0047 a0001c0007t0009 a0001c0007t0047	a0001c0007t0009g0017 a0001c0007t0009g0044 a0001c0007t0047g0065 a0001c0007t0009g0017 a0001c0007t0009g0044 a0001c0007t0047g0065	3	83	0.0361	50	c.66 others(61): Show c.6670_*6671insGTCTGCACCGTGGCCACCCCTTCTCACCGATGAT GAGGAGCACTGCGACT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2997		chr20	TogoVar
CDH4_chr20_61247261_61945617	61943784	C C	CTCTCACC others(43): Show CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0067 a0002c0002t0003g0067	1	59	0.0169	50	c.68 others(61): Show c.6841_*6842insTCTCACCGACGACGAGGAGCACTGCGACCGTCTG CACCGTGGCCGCCCCT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3168		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944066	C C	CTGCACCG others(43): Show CTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACTGT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG01433.hp2 others(7): Show HG00408.hp2 HG01106.hp2 HG01433.hp2 HG01496.hp1 HG03225.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 NA18906.hp2 NA18941.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0037 a0002c0002t0003 a0002c0002t0004 others(6): Show a0001c0001t0037 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0014 a0002c0002t0022 a0002c0002t0023 a0002c0005t0004 a0002c0005t0019	a0001c0001t0037g0055 a0002c0002t0003g0076 a0002c0002t0003g0087 others(7): Show a0001c0001t0037g0055 a0002c0002t0003g0076 a0002c0002t0003g0087 a0002c0002t0004g0096 a0002c0002t0011g0082 a0002c0002t0014g0074 a0002c0002t0022g0105 a0002c0002t0023g0102 a0002c0005t0004g0048 a0002c0005t0019g0056	10	106	0.0943	50	c.71 others(61): Show c.7123_*7124insTGCACCGTGGCCGCCCCTTCTCACTGACGATGAG GAGCATTGCGACTGTA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3450		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944546	C C	CTGCACCG others(43): Show CTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACTGT A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0024 a0002c0008t0024	a0002c0008t0024g0024 a0002c0008t0024g0024	1	106	0.0094	50	c.76 others(61): Show c.7603_*7604insTGCACCGTGGCCGCCCCTTCTCACTGACGATGAG GAGCATTGCGACTGTA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3930		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944772	G G	GACGAGGA others(43): Show GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0020 a0001c0006t0020	a0001c0006t0020g0004 a0001c0006t0020g0004	1	103	0.0097	50	c.78 others(61): Show c.7829_*7830insACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4156		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944905	C C	CGCCCCTT others(43): Show CGCCCCTTCTCACCAATGATGATGAGCATTGCAGCTGTCTGGACCATGGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0017 a0001c0007t0009g0017	1	85	0.0118	50	c.79 others(61): Show c.7962_*7963insGCCCCTTCTCACCAATGATGATGAGCATTGCAGC TGTCTGGACCATGGGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4289		chr20	TogoVar
CDH7_chr18_65746012_65895337	65844174	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0063 a0002c0003t0014g0063	1	18	0.0556	50	c.123 others(67): Show c.1235+123_1235+124insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH8_chr16_61642250_62041438	61960346	C C	CGTGTGTG others(43): Show CGTGTGTGTGTATACACACATATATACGTGTGTGTGTATACACACATATA T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0090 a0001c0001t0049g0090	1	130	0.0077	50	c.253 others(69): Show c.253-58874_253-58873insATATATGTGTGTATACACACACACGT ATATATGTGTGTATACACACACAC	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDKAL1_chr6_20529457_21237404	20992208	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATGTAT G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02622.hp1 NA21309.hp2 HG01496.hp2 HG02622.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0002t0041 a0001c0004t0001 a0001c0001t0005 a0001c0002t0041 a0001c0004t0001	a0001c0001t0005g0189 a0001c0002t0041g0012 a0001c0004t0001g0128 a0001c0001t0005g0189 a0001c0002t0041g0012 a0001c0004t0001g0128	3	38	0.0789	50	c.910 others(67): Show c.910-8016_910-8015insATATATATATATATATATATATATATAT ATATATATATATATGTATGTAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4894856	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTATGTGTATATACACACGTGTATGTGTGTATATATACA C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG06807.hp2 HG02451.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0169 a0001c0002t0002g0122 a0001c0002t0002g0169	2	238	0.0084	50	c.691 others(67): Show c.691+2477_691+2478insGTGTGTGTGTGTATGTGTATATACACAC GTGTATGTGTGTATATATACAC	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6			chr6	TogoVar
CDYL_chr6_4771404_4960544	4895275	A A	ATATATGT others(43): Show ATATATGTGCATATATGCATGTATGTATATATGTGCATATATGCATGTAT G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0161 a0001c0002t0006g0161	1	235	0.0043	50	c.691 others(67): Show c.691+2902_691+2951dupGTGCATATATGCATGTATGTATATATGT GCATATATGCATGTATGTATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4895385	G G	GCGCATAT others(43): Show GCGCATATATGCATGTATGTATATATGCGCATATATGCATGTATGTATAT A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	183	0.0055	50	c.691 others(67): Show c.691+3006_691+3007insCGCATATATGCATGTATGTATATATGCG CATATATGCATGTATGTATATA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6			chr6	TogoVar
CELF2_chr10_11012872_11341675	11197070	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAAGAAAGAAAGAAGGAAAGAAAGGAAAGAAAGGAA A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0163 a0001c0005t0001g0163	1	155	0.0065	50	c.272 others(69): Show c.272-20355_272-20354insAAAGAAAGAAAGAAAAGAAAGAAAGA AGGAAAGAAAGGAAAGAAAGGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12			chr10	TogoVar
CELF2_chr10_11012872_11341675	11284468	T T	TGGTGGGT others(43): Show TGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTG C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp1 HG02622.hp2 others(3): Show HG01109.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 others(1): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0016 a0001c0001t0032	a0001c0001t0003g0062 a0001c0001t0003g0169 a0001c0001t0010g0015 others(3): Show a0001c0001t0003g0062 a0001c0001t0003g0169 a0001c0001t0010g0015 a0001c0001t0016g0041 a0001c0001t0016g0153 a0001c0001t0032g0075	6	127	0.0472	50	c.842 others(67): Show c.842-3949_842-3948insGTGGGTGGATGAGGGATGAGTGTGTGGT GGGTGGATGAGGGATGAGTGCG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELSR1_chr22_46356174_46542620	46414495	G G	GCCCGCCT others(43): Show GCCCGCCTCTCGGCGAGTGTGGGTTTAACGCGCAGGCTAACCGTCCACTC T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01106.hp1 others(29): Show HG00639.hp2 HG00642.hp2 HG01106.hp1 HG01109.hp1 HG01261.hp2 HG01496.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03654.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 others(23): Show a0001 a0002 a0004 a0006 a0007 a0010 a0015 a0016 a0017 a0018 a0023 a0025 a0026 a0028 a0029 a0031 a0032 a0033 a0036 a0037 a0038 a0039 a0042 a0043 a0045 a0046	a0001c0033 a0002c0005 a0002c0012 others(28): Show a0001c0033 a0002c0005 a0002c0012 a0002c0016 a0004c0013 a0004c0023 a0004c0051 a0006c0022 a0006c0034 a0007c0019 a0010c0032 a0015c0044 a0016c0060 a0017c0045 a0018c0011 a0023c0059 a0025c0020 a0026c0063 a0028c0021 a0029c0064 a0031c0062 a0032c0018 a0033c0065 a0036c0041 a0037c0040 a0038c0048 a0039c0061 a0042c0056 a0043c0042 a0045c0037 a0046c0035	a0001c0033t0001 a0002c0005t0002 a0002c0012t0003 others(28): Show a0001c0033t0001 a0002c0005t0002 a0002c0012t0003 a0002c0016t0003 a0004c0013t0001 a0004c0023t0001 a0004c0051t0001 a0006c0022t0004 a0006c0034t0002 a0007c0019t0001 a0010c0032t0002 a0015c0044t0001 a0016c0060t0002 a0017c0045t0001 a0018c0011t0002 a0023c0059t0001 a0025c0020t0002 a0026c0063t0001 a0028c0021t0001 a0029c0064t0002 a0031c0062t0003 a0032c0018t0002 a0033c0065t0002 a0036c0041t0002 a0037c0040t0010 a0038c0048t0001 a0039c0061t0013 a0042c0056t0001 a0043c0042t0001 a0045c0037t0008 a0046c0035t0001	a0001c0033t0001g0058 a0002c0005t0002g0036 a0002c0005t0002g0065 others(29): Show a0001c0033t0001g0058 a0002c0005t0002g0036 a0002c0005t0002g0065 a0002c0012t0003g0012 a0002c0016t0003g0025 a0004c0013t0001g0023 a0004c0023t0001g0042 a0004c0051t0001g0031 a0006c0022t0004g0039 a0006c0034t0002g0066 a0007c0019t0001g0024 a0010c0032t0002g0050 a0015c0044t0001g0062 a0016c0060t0002g0097 a0017c0045t0001g0030 a0018c0011t0002g0011 a0023c0059t0001g0095 a0025c0020t0002g0020 a0026c0063t0001g0098 a0028c0021t0001g0061 a0029c0064t0002g0101 a0031c0062t0003g0099 a0032c0018t0002g0021 a0033c0065t0002g0103 a0036c0041t0002g0054 a0037c0040t0010g0068 a0038c0048t0001g0086 a0039c0061t0013g0100 a0042c0056t0001g0093 a0043c0042t0001g0052 a0045c0037t0008g0026 a0046c0035t0001g0076	32	100	0.3200	50	c.461 others(69): Show c.4612-2786_4612-2737dupAGAGTGGACGGTTAGCCTGCGCGTTA AACCCACACTCGCCGAGAGGCGGG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	5/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46414550	C C	CCTCTCGG others(43): Show CCTCTCGGCGAGTGTGGGTTTAACGCGCAGGCTAACCGTCCACTCTCCCG T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0022 a0022	a0022c0058 a0022c0058	a0022c0058t0001 a0022c0058t0001	a0022c0058t0001g0094 a0022c0058t0001g0094	1	102	0.0098	50	c.461 others(69): Show c.4612-2792_4612-2791insACGGGAGAGTGGACGGTTAGCCTGCG CGTTAAACCCACACTCGCCGAGAG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	5/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46414574	A A	ACGCAGGC others(43): Show ACGCAGGCTAACCGTCCACTCTCCCGCCTCTCGGCGAGTGTGGGTTTAAC G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03654.hp2 HG02683.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0039 a0001c0001 a0001c0039	a0001c0001t0001 a0001c0039t0001 a0001c0001t0001 a0001c0039t0001	a0001c0001t0001g0067 a0001c0039t0001g0088 a0001c0001t0001g0067 a0001c0039t0001g0088	2	91	0.0220	50	c.461 others(69): Show c.4612-2865_4612-2816dupCGTTAAACCCACACTCGCCGAGAGGC GGGAGAGTGGACGGTTAGCCTGCG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	5/34			chr22	TogoVar
CEMIP2_chr9_71678366_71773513	71728269	A A	ATATATAC others(43): Show ATATATACGTATATATATATATACGTATATATATATATATATATATATAC G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0201 a0001c0001t0021g0201	1	278	0.0036	50	c.204 others(69): Show c.2049+1575_2049+1576insCGTATATATATATATATATATATATA CGTATATATATATATACGTATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728287	A A	ACACGTAT others(43): Show ACACGTATATATATATATATATGTATATATATATATATATATATATATAC G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01258.hp2 HG00323.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0238 a0001c0001t0010g0239 a0001c0001t0002g0238 a0001c0001t0010g0239	2	282	0.0071	50	c.204 others(69): Show c.2049+1557_2049+1558insCGTATATATATATATATATATATATA TACATATATATATATATATACGTG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CENPC_chr4_67463762_67550503	67491461	A A	ATATAGAG others(43): Show ATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGCCTGGTTG T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0086 a0002c0002t0003g0086	1	336	0.0030	50	c.251 others(67): Show c.2515+718_2515+719insACAACCAGGCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTATA	CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding	16/18			chr4	TogoVar
CENPC_chr4_67463762_67550503	67491469	A A	AGAGAGAG others(43): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGCCTGGTTG T	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0083 a0002c0002t0003g0083	1	336	0.0030	50	c.251 others(67): Show c.2515+710_2515+711insACAACCAGGCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTC	CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding	16/18			chr4	TogoVar
CENPJ_chr13_24877279_24927861	24881838	A A	ATATATAG others(43): Show ATATATAGATACATCTATATAGATACATCTATATAGATATATAGATACAT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 NA18985.hp2 HG02273.hp2 NA18985.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0003 a0002c0003t0003g0115 a0002c0003t0003g0003 a0002c0003t0003g0115	2	392	0.0051	50	c.13 others(61): Show c.1338_*1339insGATGTATCTATATATCTATATAGATGTATCTATA TAGATGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		440		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882257	T T	TAGATAGA others(43): Show TAGATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01081.hp2 others(5): Show HG00140.hp2 HG00280.hp2 HG01081.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 NA20805.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0013 a0004c0006t0004 a0004c0006t0013	a0004c0006t0004g0005 a0004c0006t0004g0036 a0004c0006t0004g0094 others(2): Show a0004c0006t0004g0005 a0004c0006t0004g0036 a0004c0006t0004g0094 a0004c0006t0004g0095 a0004c0006t0013g0093	8	398	0.0201	50	c.91 others(59): Show c.919_*920insCTATATAGATGTATCTATATATCTATATAGATGTAT CTATATATCTATCT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		21		chr13	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTATACATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0162 a0001c0001t0034g0162	1	132	0.0076	50	c.467 others(67): Show c.467+6719_467+6720insGTGTGTGTGTGTGTATACATATATATAT ATATATATATATATATATATAT	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(43): Show GATATATATATATATATATATATATATATATATATATATATATATATAGA T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	58	0.0172	50	c.565 others(69): Show c.565-43918_565-43917insTATATATATATATATATATATATAGA TATATATATATATATATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP170B_chr14_104860268_104901747	104884845	G G	GGGGGGTG others(43): Show GGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAA C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0024 a0001c0032t0024	a0001c0032t0024g0167 a0001c0032t0024g0167	1	324	0.0031	50	c.177 others(67): Show c.1770+301_1770+302insTGGAGGTGATGCCGGGGGTGGCGAGTGA GAGCACTCGTGGGGAACGGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(43): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	248	0.0040	50	c.-10 others(61): Show c.-1057_-1056insCACACACACACACACACACACACACACACACACA CACACACACACACACA	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		891		chr17	TogoVar
CEP72_chr5_607340_658553	648845	G G	GACTGTGA others(43): Show GACTGTGAGGTGTGACTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTG T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	65	0.0154	50	c.177 others(67): Show c.1778+929_1778+930insACTGTGAGGTGTGACTGAGGCGTGGACT GTGAGGTGTGACTGTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP72_chr5_607340_658553	649383	T T	TGGACTGT others(43): Show TGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGT G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	88	0.0114	50	c.177 others(69): Show c.1778+1468_1778+1469insGACTGTGAGGTGTGACTGAGGTGTGA CTGAGGTGTGACTGTGAGGCGTGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP85L_chr6_118455772_118656591	118636487	A A	ATGGTTAA others(43): Show ATGGTTAATTTTACATGACAACTTGACTGGACCATGGGGTGCCCAGATAT G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02886.hp2 others(4): Show HG02451.hp1 HG02486.hp2 HG02886.hp2 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0011 a0007c0007t0013 a0007c0007t0019 a0007c0007t0011 a0007c0007t0013 a0007c0007t0019	a0007c0007t0011g0252 a0007c0007t0011g0253 a0007c0007t0011g0254 others(4): Show a0007c0007t0011g0252 a0007c0007t0011g0253 a0007c0007t0011g0254 a0007c0007t0011g0255 a0007c0007t0013g0180 a0007c0007t0013g0181 a0007c0007t0019g0176	7	300	0.0233	50	c.74- others(65): Show c.74-3926_74-3877dupCATATCTGGGCACCCCATGGTCCAGTCAAG TTGTCATGTAAAATTAACCA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	1/12			chr6	TogoVar
CERS3_chr15_100395395_100533950	100466812	C C	CCTCTCCC others(43): Show CCTCTCCCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTC T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0293 a0004c0005t0002g0293	1	149	0.0067	50	c.845 others(67): Show c.845+2565_845+2566insAGAAAGAGAGAAAGAGAGAAAGAGAGAA AGAGAGAGAGAGAGAGGGAGAG	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS5_chr12_50124289_50172369	50156420	C C	CTATATAT others(43): Show CTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp1 HG02922.hp2 HG02257.hp1 HG02615.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0022 a0001c0001t0010g0089 a0001c0001t0010g0144 a0001c0001t0005g0022 a0001c0001t0010g0089 a0001c0001t0010g0144	3	143	0.0210	50	c.197 others(69): Show c.197+10680_197+10681insTATATATATATATATATATATATATA TATATATATATATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50156437	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATATA A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02647.hp1 NA18983.hp1 others(1): Show HG00140.hp2 HG02647.hp1 NA18983.hp1 NA18998.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0020 a0002c0003t0003g0037 a0002c0003t0003g0058 others(1): Show a0002c0003t0003g0020 a0002c0003t0003g0037 a0002c0003t0003g0058 a0002c0003t0003g0059	4	277	0.0144	50	c.197 others(69): Show c.197+10663_197+10664insTTATATATATATATATATATATATAT ATATATATATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(43): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0030 a0030	a0030c0037 a0030c0037	a0030c0037t0002 a0030c0037t0002	a0030c0037t0002g0312 a0030c0037t0002g0312	1	276	0.0036	50	c.112 others(69): Show c.1126-1504_1126-1503insAAAAAAAAAAAAAAAAAAAAAAGAAA AAAAAAAAAGAAAGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP251_chr12_121913592_122008919	121966196	T T	TCCCTCCC others(43): Show TCCCTCCCCTTCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTTCCCT C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0326 a0001c0006t0001g0326	1	326	0.0031	50	c.249 others(67): Show c.2493-750_2493-701dupTTCCCTCCCCTCCCCTTCCCTCCCCTCC CCTCCCCTTCCCTCCCCTCCCC	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP47_chrX_35914734_36390317	35923871	A A	ATGTATAC others(43): Show ATGTATACACATATATATGTGTATATATGTACATATATGTACATATATAT G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0216 a0015c0020t0001g0216	1	195	0.0051	50	c.250 others(67): Show c.250-2140_250-2139insCACATATATATGTGTATATATGTACATA TATGTACATATATATGTGTATA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371839	T T	TATACGTG others(43): Show TATACGTGTGCATATACACACATGTGTGTATATACGTGTGCATATACACA C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0041 a0041	a0041c0071 a0041c0071	a0041c0071t0001 a0041c0071t0001	a0041c0071t0001g0134 a0041c0071t0001g0134	1	214	0.0047	50	c.918 others(69): Show c.9185+4714_9185+4715insACGTGTGCATATACACACATGTGTGT ATATACGTGTGCATATACACACAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	169	0.0059	50	c.117 others(69): Show c.1175-1857_1175-1856insAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAGAGAGAGAGAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGA A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0231	1	78	0.0128	50	c.117 others(69): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP54_chr12_96484577_96880555	96827707	T T	TATATAAT others(43): Show TATATAATTATATATAATTATATATAATATAATTATATATAATTATATTT A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0001 a0021c0023t0001	a0021c0023t0001g0094 a0021c0023t0001g0094	1	166	0.0060	50	c.909 others(69): Show c.9097-1285_9097-1284insATAATATAATTATATATAATTATATT TAATATAATTATATATAATTATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827707	T T	TATATAAT others(43): Show TATATAATTATATATAATTATATTTAATATAATTATATATAATTATATTT A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG02109.hp1 others(17): Show HG01081.hp1 HG01192.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03490.hp2 NA18522.hp1 NA18522.hp2 NA18984.hp1 NA19030.hp2 NA19079.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0010 a0012 a0015 a0062	a0001c0001 a0002c0003 a0006c0006 others(4): Show a0001c0001 a0002c0003 a0006c0006 a0010c0069 a0012c0097 a0015c0100 a0062c0038	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(5): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0006c0006t0001 a0010c0069t0001 a0012c0097t0001 a0015c0100t0001 a0062c0038t0001	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0036 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0063 a0001c0001t0001g0075 a0002c0003t0001g0127 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0006c0006t0001g0057 a0010c0069t0001g0259 a0012c0097t0001g0196 a0015c0100t0001g0193 a0062c0038t0001g0191	20	185	0.1081	50	c.909 others(69): Show c.9097-1265_9097-1264insTATATTTAATATAATTATATATAATT ATATTTAATATAATTATATATAAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP61_chr20_20047532_20365698	20269231	A A	ATATATAC others(43): Show ATATATACACATATATACATGTATGTATATATACACATATATACATGTAT G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp2 HG01109.hp2 others(6): Show HG00738.hp2 HG01071.hp2 HG01109.hp2 HG01346.hp1 HG01496.hp2 HG01975.hp1 HG01993.hp1 HG02148.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0002c0004t0002 others(2): Show a0001c0001t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004	a0001c0001t0002g0063 a0002c0004t0001g0065 a0002c0004t0001g0205 others(6): Show a0001c0001t0002g0063 a0002c0004t0001g0065 a0002c0004t0001g0205 a0002c0004t0001g0215 a0002c0004t0001g0219 a0002c0004t0002g0087 a0002c0004t0002g0209 a0002c0004t0003g0207 a0002c0004t0004g0017	9	233	0.0386	50	c.250 others(69): Show c.2503+6107_2503+6108insCACATATATACATGTATGTATATATA CACATATATACATGTATGTATATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP70_chr10_73248762_73363864	73270510	C C	CCTCCCCT others(43): Show CCTCCCCTCCCCTTCCCATTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0029 a0007c0010t0001g0029	1	205	0.0049	50	c.313 others(67): Show c.3136-796_3136-795insAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAATGGGAAGGGGAGGGGAG	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	25/27			chr10	TogoVar
CFAP92_chr3_128904873_128999076	128954739	T T	TGGGGGTG others(43): Show TGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00733.hp2 others(10): Show HG00280.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01192.hp1 HG01261.hp2 HG01515.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0277 a0001c0001t0001g0278 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0295 a0001c0001t0004g0215 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0280 a0001c0001t0004g0281	13	332	0.0392	50	c.135 others(69): Show c.1354-8765_1354-8764insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACACCCCC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFH_chr1_196647043_196752504	196692716	C C	CTTTCTTT others(43): Show CTTTCTTTCTCTTTCCCTTCCTTTCTTTTTCTTTCCCTTCCTTTCTTTTT G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp1 NA20129.hp2 HG02572.hp2 HG02886.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0247 a0001c0001t0001g0271 a0004c0004t0001g0136 a0001c0001t0001g0247 a0001c0001t0001g0271 a0004c0004t0001g0136	3	100	0.0300	50	c.133 others(69): Show c.1336+2486_1336+2487insCTTTCCCTTCCTTTCTTTTTCTTTCC CTTCCTTTCTTTTTGTTTCTTTCT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	154	0.0065	50	c.58- others(67): Show c.58-16989_58-16988insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(43): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19070.hp2 NA18999.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0231 a0001c0001t0001g0232	2	158	0.0127	50	c.-12 others(67): Show c.-12+1925_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHD7_chr8_60673740_60873028	60775363	T T	TAAGCTTA others(43): Show TAAGCTTATACTACTTTATATGCTTATACTACTTTATATAAGCTTATATG C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp2 others(83): Show HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02155.hp1 HG02258.hp1 HG02293.hp2 HG02523.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18970.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19087.hp1 NA19088.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0008 others(5): Show a0001 a0002 a0008 a0011 a0015 a0017 a0018 a0019	a0001c0001 a0001c0002 a0001c0010 others(8): Show a0001c0001 a0001c0002 a0001c0010 a0001c0033 a0002c0009 a0008c0029 a0011c0014 a0015c0031 a0017c0013 a0018c0023 a0019c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0035 a0001c0001t0039 a0001c0001t0042 a0001c0002t0006 a0001c0002t0020 a0001c0010t0007 a0001c0010t0012 a0001c0033t0001 a0002c0009t0015 a0008c0029t0008 a0011c0014t0003 a0015c0031t0003 a0017c0013t0001 a0018c0023t0001 a0019c0022t0008	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(83): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0232 a0001c0001t0002g0188 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0027 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0095 a0001c0001t0003g0148 a0001c0001t0004g0064 a0001c0001t0008g0037 a0001c0001t0008g0038 a0001c0001t0008g0066 a0001c0001t0008g0068 a0001c0001t0012g0077 a0001c0001t0012g0083 a0001c0001t0021g0023 a0001c0001t0021g0094 a0001c0001t0022g0016 a0001c0001t0022g0055 a0001c0001t0035g0008 a0001c0001t0039g0001 a0001c0001t0042g0065 a0001c0002t0006g0070 a0001c0002t0020g0084 a0001c0002t0020g0085 a0001c0010t0007g0056 a0001c0010t0012g0159 a0001c0033t0001g0010 a0002c0009t0015g0103 a0002c0009t0015g0104 a0008c0029t0008g0150 a0011c0014t0003g0017 a0015c0031t0003g0018 a0017c0013t0001g0012 a0018c0023t0001g0009 a0019c0022t0008g0063	86	234	0.3675	50	c.166 others(69): Show c.1666-5637_1666-5636insAAGCTTATACTACTTTATATGCTTAT ACTACTTTATATAAGCTTATATGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	2/37			chr8	TogoVar
CHM_chrX_85856180_86052558	85911152	T T	TATATATG others(43): Show TATATATGTATATATATATATATGAATATATATATATGAATATATATATG A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0214	1	162	0.0062	50	c.124 others(67): Show c.1244+108_1244+109insTCATATATATATTCATATATATATATTC ATATATATATATATACATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHODL_chr21_18239833_18272370	18249008	A A	AATATATA others(43): Show AATATATAATATATATATTATACATATATGTATTTATATATAATATATAA T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02451.hp2 others(13): Show HG02109.hp1 HG02145.hp1 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 others(6): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020	a0001c0001t0005g0048 a0001c0001t0005g0283 a0001c0001t0005g0286 others(12): Show a0001c0001t0005g0048 a0001c0001t0005g0283 a0001c0001t0005g0286 a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0294 a0001c0001t0006g0292 a0001c0001t0009g0282 a0001c0001t0012g0285 a0001c0001t0016g0289 a0001c0001t0017g0281 a0001c0001t0018g0293 a0001c0001t0019g0284 a0001c0001t0020g0287	16	389	0.0411	50	c.79+ others(65): Show c.79+3713_79+3714insATATATATATTATACATATATGTATTTATA TATAATATATAATATATATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar

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