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
CFAP52_chr17_9571642_9648447	9631048	G G	GAGAAGAA others(12): Show GAGAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0160 a0002c0001t0001g0160	1	316	0.0032	19	c.117 others(38): Show c.1175-1837_1175-1836insAGAAAGAAAGAAAGAAAGA	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(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	316	0.0032	19	c.117 others(38): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18949.hp2 HG02615.hp1 NA18949.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0200 a0002c0002t0001g0147 a0001c0001t0001g0200 a0002c0002t0001g0147	2	402	0.0050	19	c.131 others(38): Show c.1316+1273_1316+1274insATATATATATATTTTTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02280.hp1 HG02622.hp1 others(1): Show HG01255.hp1 HG02280.hp1 HG02622.hp1 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0081 a0001c0001t0001g0100 a0003c0003t0001g0192 others(1): Show a0001c0001t0001g0081 a0001c0001t0001g0100 a0003c0003t0001g0192 a0003c0003t0001g0193	4	402	0.0100	19	c.131 others(38): Show c.1316+1273_1316+1274insATATATATATATATTTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP54_chr12_96484577_96880555	96486137	T T	TTTTCTTT others(12): Show TTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03486.hp2 HG03195.hp1 HG03486.hp2	a0004 a0014 a0004 a0014	a0004c0082 a0014c0014 a0004c0082 a0014c0014	a0004c0082t0001 a0014c0014t0001 a0004c0082t0001 a0014c0014t0001	a0004c0082t0001g0167 a0014c0014t0001g0164 a0004c0082t0001g0167 a0014c0014t0001g0164	2	268	0.0075	19	c.-34 others(30): Show c.-3473_-3472insTTTCTTTTCTTTTCTTTTC	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding		3439		chr12	TogoVar
CFAP54_chr12_96484577_96880555	96634046	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01928.hp2 NA18966.hp1 HG00741.hp2 HG01928.hp2 NA18966.hp1	a0009 a0022 a0049 a0009 a0022 a0049	a0009c0008 a0022c0059 a0049c0044 a0009c0008 a0022c0059 a0049c0044	a0009c0008t0001 a0022c0059t0001 a0049c0044t0001 a0009c0008t0001 a0022c0059t0001 a0049c0044t0001	a0009c0008t0001g0207 a0022c0059t0001g0092 a0049c0044t0001g0030 a0009c0008t0001g0207 a0022c0059t0001g0092 a0049c0044t0001g0030	3	268	0.0112	19	c.431 others(38): Show c.4316+3404_4316+3422dupTTTTTTTTTTTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	32/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96654832	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0027 a0027	a0027c0095 a0027c0095	a0027c0095t0001 a0027c0095t0001	a0027c0095t0001g0126 a0027c0095t0001g0126	1	268	0.0037	19	c.510 others(38): Show c.5100+3033_5101-3033insTTTTTTTTTTTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP61_chr20_20047532_20365698	20327777	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02572.hp1 others(1): Show HG01891.hp1 HG02145.hp1 HG02572.hp1 HG03130.hp2	a0005 a0013 a0017 others(1): Show a0005 a0013 a0017 a0022	a0005c0025 a0013c0021 a0017c0037 others(1): Show a0005c0025 a0013c0021 a0017c0037 a0022c0042	a0005c0025t0005 a0013c0021t0003 a0017c0037t0005 others(1): Show a0005c0025t0005 a0013c0021t0003 a0017c0037t0005 a0022c0042t0003	a0005c0025t0005g0140 a0013c0021t0003g0046 a0017c0037t0005g0138 others(1): Show a0005c0025t0005g0140 a0013c0021t0003g0046 a0017c0037t0005g0138 a0022c0042t0003g0128	4	236	0.0170	19	c.342 others(40): Show c.3423-14044_3423-14026dupAAAAAAAAAAAAAAAAAAA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20355832	C C	CTGAGGGG others(12): Show CTGAGGGGAGGTGGTCATAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0108 a0002c0002t0005g0108	1	236	0.0042	19	c.351 others(38): Show c.3514-4376_3514-4375insAGGGGAGGTGGTCATAGTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356656	A A	AGTGGTCA others(12): Show AGTGGTCACACTGAGGGGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG01517.hp2 others(26): Show HG00558.hp2 HG00735.hp2 HG01517.hp2 HG01975.hp2 HG01978.hp2 HG02080.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02717.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03579.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18947.hp2 NA18955.hp1 NA18969.hp1 NA18970.hp1 NA19007.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19090.hp1 NA19090.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0019 a0025	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0027 a0002c0002 a0002c0009 a0002c0032 a0003c0005 a0019c0038 a0025c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0004 a0001c0006t0003 a0001c0027t0001 a0002c0002t0001 a0002c0002t0004 a0002c0009t0001 a0002c0032t0001 a0003c0005t0001 a0019c0038t0001 a0025c0028t0001	a0001c0001t0001g0040 a0001c0001t0001g0157 a0001c0001t0001g0177 others(26): Show a0001c0001t0001g0040 a0001c0001t0001g0157 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0228 a0001c0001t0002g0075 a0001c0001t0004g0003 a0001c0003t0004g0005 a0001c0003t0004g0015 a0001c0006t0003g0021 a0001c0027t0001g0170 a0002c0002t0001g0030 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0086 a0002c0002t0001g0143 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0186 a0002c0002t0001g0226 a0002c0002t0001g0234 a0002c0002t0004g0012 a0002c0009t0001g0105 a0002c0032t0001g0185 a0003c0005t0001g0080 a0019c0038t0001g0113 a0025c0028t0001g0100	29	236	0.1229	19	c.351 others(38): Show c.3514-3546_3514-3528dupCACTGAGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356995	G G	GTGAGGGG others(12): Show GTGAGGGGAGATGGTCACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0002g0104 a0002c0009t0002g0106	2	236	0.0085	19	c.351 others(38): Show c.3514-3206_3514-3205insATGGTCACACTGAGGGGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357143	A A	AGTGGTCA others(12): Show AGTGGTCACACTGAGGGGAG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18951.hp2 NA18942.hp1 NA18951.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0236 a0002c0002t0004g0001 a0001c0001t0001g0236 a0002c0002t0004g0001	2	236	0.0085	19	c.351 others(38): Show c.3514-3040_3514-3022dupCACTGAGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357303	A A	AGTGGTCA others(12): Show AGTGGTCACACTGAGGGGAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0055 a0004c0008t0001g0055	1	236	0.0042	19	c.351 others(38): Show c.3514-2899_3514-2881dupCACTGAGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357374	G G	GTGAGGGG others(12): Show GTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(88): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG03669.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18951.hp1 NA18955.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18981.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19081.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0014 a0015 a0020 a0026	a0001c0001 a0001c0003 a0001c0006 others(20): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0012 a0001c0015 a0001c0024 a0001c0045 a0002c0002 a0002c0004 a0002c0009 a0002c0022 a0002c0034 a0003c0005 a0004c0008 a0005c0013 a0007c0010 a0008c0020 a0010c0016 a0014c0031 a0015c0047 a0020c0040 a0026c0030	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(29): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0003t0002 a0001c0006t0002 a0001c0006t0006 a0001c0007t0002 a0001c0012t0002 a0001c0015t0002 a0001c0024t0008 a0001c0045t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0009t0002 a0002c0022t0002 a0002c0034t0002 a0003c0005t0002 a0004c0008t0002 a0005c0013t0002 a0007c0010t0003 a0008c0020t0002 a0010c0016t0002 a0014c0031t0002 a0015c0047t0002 a0020c0040t0002 a0026c0030t0002	a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(88): Show a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0091 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0161 a0001c0001t0002g0173 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0235 a0001c0001t0003g0060 a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0171 a0001c0001t0006g0019 a0001c0003t0002g0112 a0001c0006t0002g0224 a0001c0006t0006g0011 a0001c0007t0002g0077 a0001c0007t0002g0084 a0001c0007t0002g0222 a0001c0007t0002g0231 a0001c0007t0002g0232 a0001c0012t0002g0099 a0001c0012t0002g0172 a0001c0015t0002g0201 a0001c0015t0002g0233 a0001c0024t0008g0176 a0001c0045t0002g0074 a0002c0002t0001g0029 a0002c0002t0001g0051 a0002c0002t0002g0002 a0002c0002t0002g0024 a0002c0002t0002g0027 a0002c0002t0002g0039 a0002c0002t0002g0045 a0002c0002t0002g0071 a0002c0002t0002g0081 a0002c0002t0002g0097 a0002c0002t0002g0103 a0002c0002t0002g0134 a0002c0002t0002g0155 a0002c0002t0002g0159 a0002c0002t0002g0182 a0002c0002t0002g0191 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0227 a0002c0002t0005g0114 a0002c0002t0005g0137 a0002c0002t0006g0013 a0002c0004t0002g0087 a0002c0004t0002g0209 a0002c0004t0003g0207 a0002c0004t0006g0020 a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0022t0002g0049 a0002c0034t0002g0034 a0003c0005t0002g0062 a0003c0005t0002g0068 a0003c0005t0002g0069 a0003c0005t0002g0070 a0003c0005t0002g0218 a0004c0008t0002g0166 a0005c0013t0002g0047 a0007c0010t0003g0130 a0008c0020t0002g0123 a0010c0016t0002g0044 a0014c0031t0002g0043 a0015c0047t0002g0168 a0020c0040t0002g0160 a0026c0030t0002g0056	91	236	0.3856	19	c.351 others(38): Show c.3514-2817_3514-2799dupCTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357414	G G	GTGAGGGG others(12): Show GTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp1 HG02965.hp1 others(1): Show HG00639.hp1 HG01496.hp1 HG02965.hp1 NA18947.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0015 a0002c0002 others(1): Show a0001c0001 a0001c0015 a0002c0002 a0010c0016	a0001c0001t0001 a0001c0015t0002 a0002c0002t0005 others(1): Show a0001c0001t0001 a0001c0015t0002 a0002c0002t0005 a0010c0016t0002	a0001c0001t0001g0187 a0001c0015t0002g0201 a0002c0002t0005g0108 others(1): Show a0001c0001t0001g0187 a0001c0015t0002g0201 a0002c0002t0005g0108 a0010c0016t0002g0165	4	236	0.0170	19	c.351 others(38): Show c.3514-2777_3514-2759dupCTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357419	G G	GGGAGGTG others(12): Show GGGAGGTGGTCACACTGAGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04204.hp2 HG02602.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0001 a0001c0003t0004 a0002c0002t0001	a0001c0003t0004g0015 a0002c0002t0001g0041 a0001c0003t0004g0015 a0002c0002t0001g0041	2	236	0.0085	19	c.351 others(38): Show c.3514-2773_3514-2772insAGGAGGTGGTCACACTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357423	G G	GGTGGTCA others(12): Show GGTGGTCACACTGAGGGGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp2 NA18969.hp1 others(1): Show HG03130.hp1 HG03195.hp2 NA18969.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0004 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0178 a0001c0003t0004g0005 a0002c0002t0001g0143 others(1): Show a0001c0001t0001g0178 a0001c0003t0004g0005 a0002c0002t0001g0143 a0002c0002t0004g0012	4	236	0.0170	19	c.351 others(38): Show c.3514-2769_3514-2768insAGTGGTCACACTGAGGGGA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357593	C C	CTGAGGAG others(12): Show CTGAGGAGAGGTGGTCATAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02897.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0171 a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0171	3	236	0.0127	19	c.351 others(38): Show c.3514-2615_3514-2614insAGGAGAGGTGGTCATAGTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357630	A A	ATAGTGTG others(12): Show ATAGTGTGAGGGGAGGTGGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0108 a0002c0002t0005g0108	1	236	0.0042	19	c.351 others(38): Show c.3514-2580_3514-2579insTAGTGTGAGGGGAGGTGGT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357713	G G	GTGAGGGG others(12): Show GTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG03225.hp1 others(3): Show HG02622.hp1 HG02895.hp1 HG03225.hp1 HG03579.hp2 NA18981.hp2 NA20905.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0012 a0001c0026 others(1): Show a0001c0001 a0001c0012 a0001c0026 a0009c0014	a0001c0001t0002 a0001c0012t0006 a0001c0026t0001 others(1): Show a0001c0001t0002 a0001c0012t0006 a0001c0026t0001 a0009c0014t0006	a0001c0001t0002g0075 a0001c0001t0002g0145 a0001c0001t0002g0158 others(3): Show a0001c0001t0002g0075 a0001c0001t0002g0145 a0001c0001t0002g0158 a0001c0012t0006g0009 a0001c0026t0001g0141 a0009c0014t0006g0007	6	236	0.0254	19	c.351 others(38): Show c.3514-2478_3514-2460dupCTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357749	C C	CACTGAGG others(12): Show CACTGAGGGGAGGTGGTCAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG02145.hp1 others(6): Show HG01109.hp1 HG01109.hp2 HG02145.hp1 HG02723.hp2 HG03139.hp2 NA18955.hp1 NA18969.hp1 NA19030.hp1 NA19090.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0008 a0012 a0022 a0024	a0001c0001 a0002c0002 a0006c0011 others(4): Show a0001c0001 a0002c0002 a0006c0011 a0008c0017 a0012c0019 a0022c0042 a0024c0029	a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 others(5): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 a0006c0011t0002 a0008c0017t0002 a0012c0019t0003 a0022c0042t0003 a0024c0029t0003	a0001c0001t0002g0063 a0002c0002t0001g0143 a0002c0002t0001g0186 others(6): Show a0001c0001t0002g0063 a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0004g0012 a0006c0011t0002g0117 a0008c0017t0002g0121 a0012c0019t0003g0120 a0022c0042t0003g0128 a0024c0029t0003g0132	9	236	0.0381	19	c.351 others(38): Show c.3514-2460_3514-2459insCTGAGGGGAGGTGGTCATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357793	G G	GTGAGGGG others(12): Show GTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG03139.hp2 others(3): Show HG02145.hp1 HG02723.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG06807.hp1	a0001 a0012 a0022 others(1): Show a0001 a0012 a0022 a0024	a0001c0001 a0001c0003 a0001c0026 others(3): Show a0001c0001 a0001c0003 a0001c0026 a0012c0019 a0022c0042 a0024c0029	a0001c0001t0002 a0001c0003t0001 a0001c0026t0001 others(3): Show a0001c0001t0002 a0001c0003t0001 a0001c0026t0001 a0012c0019t0003 a0022c0042t0003 a0024c0029t0003	a0001c0001t0002g0061 a0001c0003t0001g0202 a0001c0026t0001g0141 others(3): Show a0001c0001t0002g0061 a0001c0003t0001g0202 a0001c0026t0001g0141 a0012c0019t0003g0120 a0022c0042t0003g0128 a0024c0029t0003g0132	6	236	0.0254	19	c.351 others(38): Show c.3514-2415_3514-2414insAGGGGAGGTGGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357796	C C	CGGGGAGG others(12): Show CGGGGAGGTGGTCACACTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(74): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00639.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02056.hp1 HG02071.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03453.hp2 HG03471.hp1 HG03669.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19070.hp1 NA19081.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0015 a0017 a0020	a0001c0001 a0001c0003 a0001c0006 others(17): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0012 a0001c0015 a0001c0045 a0002c0002 a0002c0004 a0002c0009 a0002c0022 a0003c0005 a0004c0008 a0005c0013 a0005c0025 a0007c0010 a0010c0016 a0015c0047 a0017c0037 a0020c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0002 a0001c0003t0003 a0001c0006t0002 a0001c0006t0006 a0001c0007t0002 a0001c0012t0002 a0001c0015t0002 a0001c0045t0002 a0002c0002t0002 a0002c0002t0005 a0002c0004t0002 a0002c0004t0003 a0002c0009t0002 a0002c0022t0002 a0003c0005t0002 a0004c0008t0002 a0005c0013t0002 a0005c0025t0005 a0007c0010t0003 a0010c0016t0002 a0015c0047t0002 a0017c0037t0005 a0020c0040t0002	a0001c0001t0001g0187 a0001c0001t0002g0036 a0001c0001t0002g0037 others(74): Show a0001c0001t0001g0187 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0002g0091 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0161 a0001c0001t0002g0173 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0216 a0001c0001t0002g0235 a0001c0001t0003g0060 a0001c0001t0003g0095 a0001c0001t0004g0010 a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0171 a0001c0001t0006g0019 a0001c0003t0002g0112 a0001c0003t0003g0175 a0001c0006t0002g0224 a0001c0006t0006g0011 a0001c0007t0002g0077 a0001c0007t0002g0084 a0001c0012t0002g0099 a0001c0012t0002g0172 a0001c0015t0002g0201 a0001c0015t0002g0233 a0001c0045t0002g0074 a0002c0002t0002g0002 a0002c0002t0002g0024 a0002c0002t0002g0027 a0002c0002t0002g0039 a0002c0002t0002g0045 a0002c0002t0002g0071 a0002c0002t0002g0081 a0002c0002t0002g0103 a0002c0002t0002g0134 a0002c0002t0002g0155 a0002c0002t0002g0159 a0002c0002t0002g0182 a0002c0002t0002g0191 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0227 a0002c0002t0005g0114 a0002c0002t0005g0137 a0002c0004t0002g0087 a0002c0004t0002g0209 a0002c0004t0003g0207 a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0022t0002g0049 a0003c0005t0002g0062 a0003c0005t0002g0068 a0003c0005t0002g0070 a0004c0008t0002g0166 a0005c0013t0002g0047 a0005c0025t0005g0140 a0007c0010t0003g0130 a0010c0016t0002g0044 a0010c0016t0002g0165 a0015c0047t0002g0168 a0017c0037t0005g0138 a0020c0040t0002g0160	77	236	0.3263	19	c.351 others(38): Show c.3514-2401_3514-2400insCACTGAGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20358127	A A	AGTCACAC others(12): Show AGTCACACTGAGAGGAGGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp2 HG02717.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0003 a0001c0001t0005 a0002c0002t0003	a0001c0001t0005g0171 a0002c0002t0003g0083 a0001c0001t0005g0171 a0002c0002t0003g0083	2	236	0.0085	19	c.351 others(38): Show c.3514-2071_3514-2053dupAGGAGGTGGTCACACTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20358139	A A	AGGAGGTG others(12): Show AGGAGGTGGTCACACTGAGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0047 a0005c0013t0002g0047	1	236	0.0042	19	c.351 others(38): Show c.3514-2048_3514-2030dupGGTGGTCACACTGAGGGGA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP70_chr10_73248762_73363864	73362980	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0007 a0003c0003t0002g0007	1	220	0.0046	19	c.-42 others(30): Show c.-4243_-4242insTTTTTTTTTTTTTTTTTTT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding		4117		chr10	TogoVar
CFAP77_chr9_132405211_132578319	132559346	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01071.hp1 others(15): Show HG00099.hp1 HG01069.hp1 HG01071.hp1 HG01261.hp2 HG01515.hp2 HG01943.hp1 HG01952.hp2 HG02145.hp2 HG02615.hp1 HG06807.hp2 NA18944.hp2 NA18946.hp2 NA18957.hp2 NA18979.hp1 NA18990.hp1 NA19065.hp1 NA19077.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0002c0003t0001	a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0081 others(15): Show a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0175 a0001c0001t0001g0197 a0001c0001t0001g0260 a0001c0001t0002g0264 a0001c0002t0001g0109 a0001c0002t0001g0216 a0001c0002t0001g0258 a0001c0002t0002g0148 a0001c0004t0002g0250 a0002c0003t0001g0069 a0002c0003t0001g0310	18	322	0.0559	19	c.733 others(38): Show c.733-13040_733-13022dupAAAAAAAAAAAAAAAAAAA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132576695	A A	ATAGGCCA others(12): Show ATAGGCCACAGACCCAATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03688.hp1 NA19240.hp2 HG03471.hp1 HG03688.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0244 a0001c0001t0002g0138 a0001c0002t0002g0013 a0001c0001t0001g0244 a0001c0001t0002g0138 a0001c0002t0002g0013	3	322	0.0093	19	c.41 others(30): Show c.4185_*4186insTAGGCCACAGACCCAATTC	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding		3377		chr9	TogoVar
CFAP91_chr3_119698022_119772102	119738330	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0123 a0001c0001t0012g0123	1	386	0.0026	19	c.146 others(36): Show c.1461+849_1461+850insTTTTTTTTTTTTTTTTTTT	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP91_chr3_119698022_119772102	119738332	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG01516.hp1 others(15): Show HG00738.hp2 HG01192.hp1 HG01516.hp1 HG01993.hp1 HG02523.hp2 HG02886.hp2 HG02896.hp1 HG03490.hp1 HG03490.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp1 NA18944.hp2 NA18974.hp1 NA18988.hp2 NA19001.hp2 NA19043.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0012 a0001c0009t0001 a0001c0001t0001 a0001c0001t0012 a0001c0009t0001	a0001c0001t0001g0017 a0001c0001t0001g0167 a0001c0001t0001g0169 others(14): Show a0001c0001t0001g0017 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0012g0291 a0001c0009t0001g0105	18	386	0.0466	19	c.146 others(36): Show c.1461+866_1461+884dupTTTTTTTTTTTTTTTTTTT	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP95_chr9_69815817_69911227	69832620	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18970.hp1 NA18975.hp2 others(1): Show HG01255.hp2 NA18970.hp1 NA18975.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0375 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0375 a0001c0002t0001g0010	4	380	0.0105	19	c.152 others(38): Show c.152+11597_152+11615dupTTTTTTTTTTTTTTTTTTT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843505	C C	CCCCCCCT others(12): Show CCCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0293	1	380	0.0026	19	c.153 others(36): Show c.153-1010_153-1009insCCCCTCCTCCTCCTCCTCC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843514	T T	TCCCCCCC others(12): Show TCCCCCCCTCCTCCTCCCCC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	380	0.0026	19	c.153 others(36): Show c.153-1001_153-1000insCCCCCTCCTCCTCCCCCCC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP99_chr4_2413955_2468002	2440149	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	350	0.0029	19	c.351 others(36): Show c.351+2000_351+2001insTTTTTTTTTTTTTTTTTTT	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFC1B_chr2_130516222_130533603	130532673	A A	AAAAAAAT others(12): Show AAAAAAATAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	12	0.0833	19	c.47 others(30): Show c.4778_*4779insAAAAAATAATAATAATAAT	CFC1B	ENSG00000152093.8	transcript	ENST00000281882.8	protein_coding		4071		chr2	TogoVar
CFDP1_chr16_75288710_75438503	75297195	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	314	0.0032	19	c.810 others(36): Show c.810-3154_810-3153insCACACACACACACACACAC	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75346582	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0314 a0001c0002t0009g0314	1	314	0.0032	19	c.651 others(38): Show c.651-41419_651-41401dupTTTTTTTTTTTTTTTTTTT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349680	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03669.hp2 NA18950.hp2 HG02083.hp2 HG03669.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0113 a0001c0001t0001g0227 a0001c0001t0001g0228	3	314	0.0096	19	c.651 others(38): Show c.651-44499_651-44498insATATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19060.hp1 NA19079.hp2 NA19010.hp1 NA19060.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0212 a0001c0001t0001g0244 a0001c0001t0007g0312 a0001c0001t0001g0212 a0001c0001t0001g0244 a0001c0001t0007g0312	3	314	0.0096	19	c.651 others(38): Show c.651-44501_651-44500insATATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03490.hp1 NA18946.hp1 others(3): Show HG00280.hp2 HG03490.hp1 NA18946.hp1 NA18983.hp2 NA19055.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0210 others(3): Show a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0241 a0001c0001t0001g0256 a0001c0001t0001g0310	6	314	0.0191	19	c.651 others(38): Show c.651-44503_651-44502insATATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01192.hp1 others(5): Show HG00423.hp1 HG00609.hp1 HG01192.hp1 HG01256.hp2 HG01981.hp2 NA18979.hp1 NA18999.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 others(5): Show a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0262 a0001c0001t0001g0277 a0001c0001t0001g0298 a0001c0001t0001g0302	8	314	0.0255	19	c.651 others(38): Show c.651-44505_651-44504insATATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349688	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0247 a0004c0006t0001g0247	1	314	0.0032	19	c.651 others(38): Show c.651-44507_651-44506insATATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFHR5_chr1_196972556_197014678	196976799	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03540.hp2 HG02280.hp1 HG03540.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0129 a0002c0004t0001g0131	2	356	0.0056	19	c.-86 others(28): Show c.-866_-865insTTTTTTTTTTTTTTTTTTT	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding		756		chr1	TogoVar
CFH_chr1_196647043_196752504	196658407	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18941.hp1 NA18973.hp1 others(2): Show HG02630.hp1 NA18941.hp1 NA18973.hp1 NA19063.hp2 NA20300.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0001 a0011c0012t0001 a0001c0001t0001 a0011c0012t0001	a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0248 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0248 a0001c0001t0001g0249 a0011c0012t0001g0164	5	308	0.0162	19	c.58+ others(34): Show c.58+6236_58+6254dupTTTTTTTTTTTTTTTTTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109756888	G G	GGAAAGAA others(12): Show GGAAAGAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	354	0.0028	19	c.904 others(34): Show c.904+874_904+875insTTTCTTTCTTTCTTCTTTC	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201176251	A A	ATGATCAG others(12): Show ATGATCAGTCTCAGGTGTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG06807.hp1 HG02965.hp2 HG06807.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0061 a0001c0007t0062 a0001c0007t0061 a0001c0007t0062	a0001c0007t0061g0004 a0001c0007t0062g0004 a0001c0007t0061g0004 a0001c0007t0062g0004	2	234	0.0086	19	c.12 others(32): Show c.12280_*12298dupGATCAGTCTCAGGTGTTTT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	10/10	12299	INFO_REALIGN_3_PRIME	chr2	TogoVar
CGAS_chr6_73418711_73457297	73449509	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0281 a0001c0003t0027g0281	1	410	0.0024	19	c.657 others(36): Show c.657+2015_657+2016insGTGTGTGTGTGTGTGTGTG	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00741.hp1 HG01081.hp1 others(25): Show HG00621.hp2 HG00741.hp1 HG01081.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02145.hp1 HG02451.hp2 HG02723.hp1 HG03453.hp1 HG03710.hp1 HG03831.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18968.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0002 a0002	a0002c0001 a0002c0005 a0002c0001 a0002c0005	a0002c0001t0001 a0002c0001t0014 a0002c0001t0017 others(4): Show a0002c0001t0001 a0002c0001t0014 a0002c0001t0017 a0002c0001t0022 a0002c0005t0006 a0002c0005t0008 a0002c0005t0059	a0002c0001t0001g0019 a0002c0001t0001g0021 a0002c0001t0001g0022 others(25): Show a0002c0001t0001g0019 a0002c0001t0001g0021 a0002c0001t0001g0022 a0002c0001t0001g0126 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0141 a0002c0001t0001g0144 a0002c0001t0001g0152 a0002c0001t0001g0168 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0177 a0002c0001t0001g0183 a0002c0001t0001g0235 a0002c0001t0001g0244 a0002c0001t0001g0251 a0002c0001t0001g0254 a0002c0001t0001g0263 a0002c0001t0001g0264 a0002c0001t0014g0164 a0002c0001t0017g0110 a0002c0001t0022g0178 a0002c0001t0022g0184 a0002c0005t0006g0136 a0002c0005t0008g0030 a0002c0005t0059g0123	28	410	0.0683	19	c.-13 others(30): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0028 a0028	a0028c0021 a0028c0021	a0028c0021t0008 a0028c0021t0008	a0028c0021t0008g0007 a0028c0021t0008g0007	1	294	0.0034	19	c.169 others(36): Show c.1698-188_1698-170dupAAAAAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116892	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	352	0.0028	19	c.-12 others(36): Show c.-12+1935_-12+1953dupGAGAGAGAGAGAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar

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