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
CFAP43_chr10_104124888_104237364	104157736	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	306	0.0033	12	c.354 others(31): Show c.3540+3289_3540+3300dupCACACACACACA	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157773	T T	TGAGAGAG others(5): Show TGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	306	0.0033	12	c.354 others(31): Show c.3540+3263_3540+3264insTCTCTCTCTCTC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157775	T T	TGAGAGAG others(5): Show TGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 NA18963.hp1 others(4): Show HG00423.hp2 HG00597.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA19004.hp1 NA19063.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0286 others(4): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0286 a0001c0001t0001g0287 a0002c0002t0001g0086 a0004c0005t0001g0255 a0004c0005t0001g0256	7	306	0.0229	12	c.354 others(31): Show c.3540+3250_3540+3261dupTCTCTCTCTCTC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157775	T T	TGTGAGAG others(5): Show TGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	306	0.0033	12	c.354 others(31): Show c.3540+3261_3540+3262insTCTCTCTCTCAC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157775	T T	TGTGTGAG others(5): Show TGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	306	0.0033	12	c.354 others(31): Show c.3540+3261_3540+3262insTCTCTCTCACAC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157775	T T	TGTGTGTG others(5): Show TGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	306	0.0033	12	c.354 others(31): Show c.3540+3261_3540+3262insTCTCACACACAC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP44_chr3_113281930_113446493	113324042	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02809.hp2 HG00558.hp1 HG02809.hp2	a0009 a0023 a0009 a0023	a0009c0011 a0023c0037 a0009c0011 a0023c0037	a0009c0011t0033 a0023c0037t0045 a0009c0011t0033 a0023c0037t0045	a0009c0011t0033g0025 a0023c0037t0045g0037 a0009c0011t0033g0025 a0023c0037t0045g0037	2	348	0.0058	12	c.451 others(31): Show c.4516+2391_4516+2402dupTTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	28/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113324058	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0028 a0028	a0028c0038 a0028c0038	a0028c0038t0053 a0028c0038t0053	a0028c0038t0053g0023 a0028c0038t0053g0023	1	348	0.0029	12	c.451 others(31): Show c.4516+2386_4516+2387insCTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	28/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113328695	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0060 a0003c0007t0060	a0003c0007t0060g0133 a0003c0007t0060g0133	1	348	0.0029	12	c.411 others(29): Show c.4117-877_4117-876insTTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	26/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113374363	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG02083.hp2 others(8): Show HG00738.hp1 HG01243.hp1 HG02083.hp2 HG02109.hp1 HG02622.hp1 HG02818.hp1 HG03209.hp1 NA18612.hp2 NA18977.hp1 NA18993.hp2 NA19002.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0007 a0007c0009 a0002c0002 a0003c0007 a0007c0009	a0002c0002t0002 a0002c0002t0004 a0003c0007t0023 others(3): Show a0002c0002t0002 a0002c0002t0004 a0003c0007t0023 a0003c0007t0056 a0007c0009t0021 a0007c0009t0044	a0002c0002t0002g0072 a0002c0002t0002g0173 a0002c0002t0004g0087 others(8): Show a0002c0002t0002g0072 a0002c0002t0002g0173 a0002c0002t0004g0087 a0002c0002t0004g0088 a0002c0002t0004g0107 a0003c0007t0023g0176 a0003c0007t0056g0052 a0007c0009t0021g0163 a0007c0009t0021g0164 a0007c0009t0021g0275 a0007c0009t0044g0124	11	348	0.0316	12	c.229 others(29): Show c.2299-819_2299-808dupTAAATAAATAAA	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	17/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113418057	A A	AATTTATT others(5): Show AATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(86): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02135.hp1 HG02155.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp2 HG03654.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18953.hp2 NA18957.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp2 NA19002.hp2 NA19005.hp2 NA19054.hp1 NA19062.hp1 NA19064.hp2 NA19067.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20905.hp1	a0002 a0003 a0005 others(11): Show a0002 a0003 a0005 a0006 a0009 a0010 a0015 a0016 a0017 a0018 a0022 a0023 a0025 a0037	a0002c0002 a0003c0007 a0005c0005 others(11): Show a0002c0002 a0003c0007 a0005c0005 a0006c0006 a0009c0011 a0010c0016 a0015c0023 a0016c0024 a0017c0040 a0018c0022 a0022c0041 a0023c0037 a0025c0036 a0037c0033	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(25): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0020 a0002c0002t0032 a0002c0002t0050 a0002c0002t0064 a0002c0002t0068 a0003c0007t0035 a0005c0005t0010 a0005c0005t0012 a0005c0005t0015 a0005c0005t0054 a0005c0005t0059 a0006c0006t0003 a0009c0011t0033 a0010c0016t0051 a0015c0023t0001 a0015c0023t0036 a0016c0024t0024 a0017c0040t0022 a0018c0022t0004 a0022c0041t0002 a0023c0037t0045 a0025c0036t0002 a0037c0033t0016	a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0054 others(85): Show a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0069 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0089 a0002c0002t0002g0097 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0119 a0002c0002t0002g0173 a0002c0002t0003g0061 a0002c0002t0003g0102 a0002c0002t0004g0064 a0002c0002t0004g0081 a0002c0002t0004g0086 a0002c0002t0004g0087 a0002c0002t0004g0088 a0002c0002t0004g0098 a0002c0002t0004g0105 a0002c0002t0004g0107 a0002c0002t0004g0108 a0002c0002t0004g0121 a0002c0002t0004g0162 a0002c0002t0004g0270 a0002c0002t0004g0271 a0002c0002t0005g0056 a0002c0002t0005g0059 a0002c0002t0005g0065 a0002c0002t0005g0066 a0002c0002t0005g0077 a0002c0002t0005g0078 a0002c0002t0005g0079 a0002c0002t0005g0080 a0002c0002t0005g0095 a0002c0002t0005g0096 a0002c0002t0005g0110 a0002c0002t0005g0112 a0002c0002t0005g0120 a0002c0002t0006g0115 a0002c0002t0006g0116 a0002c0002t0020g0091 a0002c0002t0020g0092 a0002c0002t0020g0093 a0002c0002t0020g0094 a0002c0002t0032g0057 a0002c0002t0032g0058 a0002c0002t0050g0036 a0002c0002t0064g0060 a0002c0002t0068g0090 a0003c0007t0035g0047 a0005c0005t0010g0007 a0005c0005t0010g0008 a0005c0005t0010g0009 a0005c0005t0010g0014 a0005c0005t0010g0015 a0005c0005t0010g0053 a0005c0005t0012g0012 a0005c0005t0015g0010 a0005c0005t0015g0011 a0005c0005t0015g0013 a0005c0005t0015g0017 a0005c0005t0015g0020 a0005c0005t0015g0021 a0005c0005t0054g0016 a0005c0005t0059g0022 a0006c0006t0003g0042 a0009c0011t0033g0024 a0009c0011t0033g0025 a0010c0016t0051g0117 a0015c0023t0001g0068 a0015c0023t0036g0067 a0016c0024t0024g0279 a0016c0024t0024g0280 a0017c0040t0022g0281 a0018c0022t0004g0002 a0022c0041t0002g0109 a0023c0037t0045g0037 a0025c0036t0002g0084 a0037c0033t0016g0210	89	348	0.2558	12	c.571 others(29): Show c.571-1442_571-1431dupAAATAAATAAAT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	5/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113433429	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02735.hp1 HG01169.hp2 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0063 a0002c0002t0004g0064 a0002c0002t0002g0063 a0002c0002t0004g0064	2	348	0.0058	12	c.100 others(27): Show c.100+124_100+135dupTTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	2/34			chr3	TogoVar
CFAP45_chr1_159867364_159905165	159877875	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(82): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02258.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18952.hp2 NA18959.hp2 NA18961.hp2 NA18966.hp1 NA18979.hp1 NA18982.hp1 NA18992.hp2 NA18993.hp1 NA19001.hp2 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19066.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp2	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0008 a0010 a0014	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0003c0004 a0006c0008 a0008c0010 a0010c0018 a0014c0013	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0003c0004t0001 a0006c0008t0001 a0008c0010t0001 a0010c0018t0001 a0014c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0023 others(56): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0258 a0001c0001t0001g0269 a0001c0002t0001g0020 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0006t0001g0046 a0001c0006t0001g0144 a0001c0006t0001g0145 a0003c0004t0001g0019 a0003c0004t0001g0111 a0003c0004t0001g0114 a0003c0004t0001g0115 a0006c0008t0001g0068 a0008c0010t0001g0071 a0010c0018t0001g0228 a0014c0013t0001g0209	85	410	0.2073	12	c.104 others(29): Show c.1045-425_1045-414dupATTTATTTATTT	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	8/11			chr1	TogoVar
CFAP45_chr1_159867364_159905165	159878753	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02165.hp1 HG03130.hp1 others(3): Show HG00735.hp2 HG02165.hp1 HG03130.hp1 NA18612.hp2 NA19067.hp2 NA20129.hp2	a0002 a0011 a0002 a0011	a0002c0003 a0011c0014 a0002c0003 a0011c0014	a0002c0003t0001 a0011c0014t0001 a0002c0003t0001 a0011c0014t0001	a0002c0003t0001g0034 a0002c0003t0001g0083 a0002c0003t0001g0086 others(2): Show a0002c0003t0001g0034 a0002c0003t0001g0083 a0002c0003t0001g0086 a0002c0003t0001g0088 a0011c0014t0001g0180	6	410	0.0146	12	c.104 others(31): Show c.1045-1303_1045-1292dupTTTTTTTTTTTT	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	8/11			chr1	TogoVar
CFAP45_chr1_159867364_159905165	159883288	C C	CTGAATGA others(5): Show CTGAATGAATGAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp1 HG06807.hp1 HG03225.hp2 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0046 a0001c0006t0001g0145 a0001c0006t0001g0046 a0001c0006t0001g0145	3	410	0.0073	12	c.897 others(29): Show c.897+1136_897+1147dupTTCATTCATTCA	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	7/11			chr1	TogoVar
CFAP46_chr10_132803392_132947570	132822335	G G	GTGCGCTG others(5): Show GTGCGCTGTGTGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0001 a0003c0012t0002g0001	2	246	0.0081	12	c.711 others(31): Show c.7118-7422_7118-7421insGCACACAGCGCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132831220	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA20300.hp2 HG01081.hp2 NA20300.hp2	a0017 a0035 a0017 a0035	a0017c0026 a0035c0057 a0017c0026 a0035c0057	a0017c0026t0002 a0035c0057t0001 a0017c0026t0002 a0035c0057t0001	a0017c0026t0002g0097 a0035c0057t0001g0234 a0017c0026t0002g0097 a0035c0057t0001g0234	2	246	0.0081	12	c.711 others(31): Show c.7117+2126_7117+2137dupCACACACACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132887934	C C	CTTTCACC others(5): Show CTTTCACCTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00642.hp2 others(10): Show HG00099.hp2 HG00323.hp1 HG00642.hp2 HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01346.hp1 HG01884.hp2 HG01952.hp1 HG02602.hp2 HG03704.hp2 HG04184.hp2 HG06807.hp1	a0004 a0033 a0041 others(3): Show a0004 a0033 a0041 a0061 a0066 a0070	a0004c0005 a0033c0048 a0041c0049 others(3): Show a0004c0005 a0033c0048 a0041c0049 a0061c0092 a0066c0077 a0070c0074	a0004c0005t0001 a0004c0005t0002 a0033c0048t0001 others(4): Show a0004c0005t0001 a0004c0005t0002 a0033c0048t0001 a0041c0049t0001 a0061c0092t0001 a0066c0077t0001 a0070c0074t0002	a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 others(10): Show a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0033c0048t0001g0224 a0041c0049t0001g0176 a0061c0092t0001g0125 a0066c0077t0001g0127 a0070c0074t0002g0006	13	246	0.0529	12	c.330 others(31): Show c.3305-1976_3305-1975insAGAGAGGTGAAA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35919048	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 NA21309.hp2 HG01255.hp1 NA21309.hp2	a0017 a0049 a0017 a0049	a0017c0020 a0049c0058 a0017c0020 a0049c0058	a0017c0020t0001 a0049c0058t0001 a0017c0020t0001 a0049c0058t0001	a0017c0020t0001g0211 a0049c0058t0001g0207 a0017c0020t0001g0211 a0049c0058t0001g0207	2	216	0.0093	12	c.-75 others(21): Show c.-752_-751insTGTGTGTGTGTG	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding		685		chrX	TogoVar
CFAP47_chrX_35914734_36390317	35924248	C C	CATGTATG others(5): Show CATGTATGTGTAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02109.hp1 others(23): Show HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0005 a0006 a0011 others(9): Show a0005 a0006 a0011 a0012 a0015 a0016 a0030 a0032 a0033 a0034 a0038 a0040	a0005c0005 a0005c0015 a0006c0008 others(15): Show a0005c0005 a0005c0015 a0006c0008 a0006c0028 a0006c0048 a0011c0030 a0011c0046 a0011c0049 a0012c0010 a0012c0027 a0015c0018 a0016c0031 a0030c0033 a0032c0035 a0033c0036 a0034c0037 a0038c0042 a0040c0050	a0005c0005t0001 a0005c0015t0001 a0006c0008t0001 others(15): Show a0005c0005t0001 a0005c0015t0001 a0006c0008t0001 a0006c0028t0001 a0006c0048t0001 a0011c0030t0001 a0011c0046t0001 a0011c0049t0001 a0012c0010t0001 a0012c0027t0001 a0015c0018t0001 a0016c0031t0002 a0030c0033t0001 a0032c0035t0001 a0033c0036t0001 a0034c0037t0001 a0038c0042t0001 a0040c0050t0001	a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0009 others(23): Show a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0009 a0005c0005t0001g0012 a0005c0005t0001g0013 a0005c0005t0001g0190 a0005c0015t0001g0131 a0006c0008t0001g0188 a0006c0008t0001g0189 a0006c0028t0001g0186 a0006c0048t0001g0001 a0011c0030t0001g0185 a0011c0046t0001g0187 a0011c0049t0001g0184 a0012c0010t0001g0130 a0012c0010t0001g0132 a0012c0010t0001g0133 a0012c0027t0001g0005 a0015c0018t0001g0007 a0016c0031t0002g0202 a0030c0033t0001g0016 a0032c0035t0001g0015 a0033c0036t0001g0010 a0034c0037t0001g0014 a0038c0042t0001g0011 a0040c0050t0001g0183	26	216	0.1204	12	c.250 others(29): Show c.250-1767_250-1766insGTATGTGTATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35924543	C C	CTATATGT others(5): Show CTATATGTGCGCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0049 a0049	a0049c0058 a0049c0058	a0049c0058t0001 a0049c0058t0001	a0049c0058t0001g0207 a0049c0058t0001g0207	1	216	0.0046	12	c.250 others(29): Show c.250-1466_250-1465insCGCATATATGTG	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35927596	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG02886.hp1 others(2): Show HG02622.hp2 HG02717.hp1 HG02886.hp1 HG03225.hp1 NA20129.hp1	a0017 a0050 a0051 others(2): Show a0017 a0050 a0051 a0052 a0053	a0017c0063 a0050c0062 a0051c0059 others(2): Show a0017c0063 a0050c0062 a0051c0059 a0052c0060 a0053c0061	a0017c0063t0001 a0050c0062t0001 a0051c0059t0001 others(2): Show a0017c0063t0001 a0050c0062t0001 a0051c0059t0001 a0052c0060t0001 a0053c0061t0002	a0017c0063t0001g0213 a0050c0062t0001g0216 a0051c0059t0001g0215 others(2): Show a0017c0063t0001g0213 a0050c0062t0001g0216 a0051c0059t0001g0215 a0052c0060t0001g0208 a0053c0061t0002g0214	5	216	0.0232	12	c.401 others(29): Show c.401+1439_401+1450dupGTGTGTGTGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	2/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35932244	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03098.hp1 HG03209.hp1 HG02723.hp2 HG03098.hp1 HG03209.hp1	a0022 a0041 a0048 a0022 a0041 a0048	a0022c0078 a0041c0075 a0048c0072 a0022c0078 a0041c0075 a0048c0072	a0022c0078t0003 a0041c0075t0001 a0048c0072t0001 a0022c0078t0003 a0041c0075t0001 a0048c0072t0001	a0022c0078t0003g0134 a0041c0075t0001g0135 a0048c0072t0001g0136 a0022c0078t0003g0134 a0041c0075t0001g0135 a0048c0072t0001g0136	3	216	0.0139	12	c.401 others(29): Show c.401+6088_401+6099dupCTTTCTTTCTTT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	2/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35949140	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01255.hp1 HG01993.hp2 others(8): Show HG00558.hp2 HG01255.hp1 HG01993.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG03130.hp1 HG06807.hp2 NA18954.hp2 NA19002.hp1 NA20300.hp2	a0002 a0003 a0005 others(5): Show a0002 a0003 a0005 a0008 a0015 a0017 a0028 a0049	a0002c0002 a0003c0074 a0005c0005 others(5): Show a0002c0002 a0003c0074 a0005c0005 a0008c0009 a0015c0018 a0017c0020 a0028c0068 a0049c0058	a0002c0002t0001 a0003c0074t0001 a0005c0005t0001 others(5): Show a0002c0002t0001 a0003c0074t0001 a0005c0005t0001 a0008c0009t0001 a0015c0018t0001 a0017c0020t0001 a0028c0068t0001 a0049c0058t0001	a0002c0002t0001g0153 a0002c0002t0001g0162 a0002c0002t0001g0171 others(8): Show a0002c0002t0001g0153 a0002c0002t0001g0162 a0002c0002t0001g0171 a0003c0074t0001g0139 a0005c0005t0001g0008 a0005c0005t0001g0009 a0008c0009t0001g0148 a0015c0018t0001g0007 a0017c0020t0001g0212 a0028c0068t0001g0142 a0049c0058t0001g0207	11	216	0.0509	12	c.656 others(27): Show c.656+711_656+722dupGTGTGTGTGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	4/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35960380	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG02630.hp1 others(6): Show HG01891.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp2 HG03225.hp1 NA19030.hp1 NA20129.hp1	a0005 a0010 a0015 others(3): Show a0005 a0010 a0015 a0034 a0051 a0052	a0005c0005 a0010c0007 a0015c0073 others(3): Show a0005c0005 a0010c0007 a0015c0073 a0034c0037 a0051c0059 a0052c0060	a0005c0005t0001 a0010c0007t0001 a0015c0073t0004 others(3): Show a0005c0005t0001 a0010c0007t0001 a0015c0073t0004 a0034c0037t0001 a0051c0059t0001 a0052c0060t0001	a0005c0005t0001g0008 a0005c0005t0001g0009 a0010c0007t0001g0194 others(6): Show a0005c0005t0001g0008 a0005c0005t0001g0009 a0010c0007t0001g0194 a0010c0007t0001g0195 a0010c0007t0001g0196 a0015c0073t0004g0137 a0034c0037t0001g0014 a0051c0059t0001g0215 a0052c0060t0001g0208	9	216	0.0417	12	c.141 others(31): Show c.1410+4200_1410+4211dupAAAAAAAAAAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36075201	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0211 a0017c0020t0001g0211	1	216	0.0046	12	c.469 others(31): Show c.4691+1870_4691+1881dupTTTATTTATTTA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	29/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36148901	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18962.hp1 HG02622.hp1 NA18962.hp1	a0002 a0040 a0002 a0040	a0002c0002 a0040c0050 a0002c0002 a0040c0050	a0002c0002t0001 a0040c0050t0001 a0002c0002t0001 a0040c0050t0001	a0002c0002t0001g0158 a0040c0050t0001g0183 a0002c0002t0001g0158 a0040c0050t0001g0183	2	216	0.0093	12	c.567 others(29): Show c.5671-181_5671-170dupGTGTGTGTGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	36/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36243647	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	216	0.0046	12	c.733 others(31): Show c.7332+6818_7332+6829dupATATATATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	48/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36248496	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp1 HG02559.hp2 HG02976.hp1	a0021 a0021	a0021c0021 a0021c0021	a0021c0021t0001 a0021c0021t0001	a0021c0021t0001g0209 a0021c0021t0001g0210 a0021c0021t0001g0209 a0021c0021t0001g0210	2	216	0.0093	12	c.733 others(31): Show c.7333-2820_7333-2809dupCACACACACACA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	48/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36270549	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0011 a0011	a0011c0054 a0011c0054	a0011c0054t0001 a0011c0054t0001	a0011c0054t0001g0201 a0011c0054t0001g0201	1	216	0.0046	12	c.744 others(31): Show c.7445-9932_7445-9921dupATATATATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	49/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36275415	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG03453.hp2 others(1): Show HG02647.hp1 HG02723.hp1 HG03453.hp2 NA21309.hp1	a0005 a0006 a0005 a0006	a0005c0005 a0006c0048 a0005c0005 a0006c0048	a0005c0005t0001 a0006c0048t0001 a0005c0005t0001 a0006c0048t0001	a0005c0005t0001g0008 a0005c0005t0001g0013 a0005c0005t0001g0190 others(1): Show a0005c0005t0001g0008 a0005c0005t0001g0013 a0005c0005t0001g0190 a0006c0048t0001g0001	4	216	0.0185	12	c.744 others(31): Show c.7445-5041_7445-5030dupGTGTGTGTGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	49/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371542	C C	CATATGTG others(5): Show CATATGTGTATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02257.hp2 HG03041.hp1 others(3): Show HG01346.hp2 HG02257.hp2 HG03041.hp1 HG03195.hp2 HG03516.hp2 NA19240.hp2	a0005 a0011 a0014 others(1): Show a0005 a0011 a0014 a0024	a0005c0015 a0011c0046 a0011c0049 others(2): Show a0005c0015 a0011c0046 a0011c0049 a0014c0016 a0024c0025	a0005c0015t0001 a0011c0046t0001 a0011c0049t0001 others(2): Show a0005c0015t0001 a0011c0046t0001 a0011c0049t0001 a0014c0016t0001 a0024c0025t0005	a0005c0015t0001g0131 a0011c0046t0001g0187 a0011c0049t0001g0184 others(3): Show a0005c0015t0001g0131 a0011c0046t0001g0187 a0011c0049t0001g0184 a0014c0016t0001g0193 a0014c0016t0001g0200 a0024c0025t0005g0182	6	216	0.0278	12	c.918 others(31): Show c.9185+4436_9185+4447dupATATATATGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371765	T T	TATATACG others(5): Show TATATACGTGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG02630.hp2 others(7): Show HG01891.hp2 HG02622.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 NA21309.hp2	a0006 a0010 a0017 others(5): Show a0006 a0010 a0017 a0026 a0028 a0032 a0040 a0041	a0006c0008 a0010c0007 a0017c0020 others(5): Show a0006c0008 a0010c0007 a0017c0020 a0026c0069 a0028c0068 a0032c0035 a0040c0050 a0041c0075	a0006c0008t0001 a0010c0007t0001 a0017c0020t0001 others(5): Show a0006c0008t0001 a0010c0007t0001 a0017c0020t0001 a0026c0069t0001 a0028c0068t0001 a0032c0035t0001 a0040c0050t0001 a0041c0075t0001	a0006c0008t0001g0175 a0010c0007t0001g0194 a0010c0007t0001g0195 others(7): Show a0006c0008t0001g0175 a0010c0007t0001g0194 a0010c0007t0001g0195 a0010c0007t0001g0196 a0017c0020t0001g0211 a0026c0069t0001g0147 a0028c0068t0001g0142 a0032c0035t0001g0015 a0040c0050t0001g0183 a0041c0075t0001g0135	10	216	0.0463	12	c.918 others(31): Show c.9185+4644_9185+4645insGTGTGCATATAC	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371776	A A	ATGTGTGT others(5): Show ATGTGTGTATATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0131 a0005c0015t0001g0131	1	216	0.0046	12	c.918 others(31): Show c.9185+4654_9185+4655insGTATATGTGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371793	T T	TATATACG others(5): Show TATATACGTGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG02630.hp2 others(4): Show HG01891.hp2 HG02622.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03130.hp1	a0010 a0026 a0028 others(2): Show a0010 a0026 a0028 a0032 a0040	a0010c0007 a0026c0069 a0028c0068 others(2): Show a0010c0007 a0026c0069 a0028c0068 a0032c0035 a0040c0050	a0010c0007t0001 a0026c0069t0001 a0028c0068t0001 others(2): Show a0010c0007t0001 a0026c0069t0001 a0028c0068t0001 a0032c0035t0001 a0040c0050t0001	a0010c0007t0001g0194 a0010c0007t0001g0195 a0010c0007t0001g0196 others(4): Show a0010c0007t0001g0194 a0010c0007t0001g0195 a0010c0007t0001g0196 a0026c0069t0001g0147 a0028c0068t0001g0142 a0032c0035t0001g0015 a0040c0050t0001g0183	7	216	0.0324	12	c.918 others(31): Show c.9185+4672_9185+4673insGTGTGCATATAC	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371870	A A	ATGTGTAT others(5): Show ATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0005 a0012c0027t0001g0005	1	216	0.0046	12	c.918 others(31): Show c.9185+4748_9185+4759dupTATATATGTGTG	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371886	G G	GTATATAT others(5): Show GTATATATGTGTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02258.hp1 HG02622.hp2 others(2): Show HG00558.hp2 HG02258.hp1 HG02622.hp2 HG03579.hp1 NA20129.hp2	a0002 a0012 a0053 a0002 a0012 a0053	a0002c0002 a0012c0010 a0053c0061 a0002c0002 a0012c0010 a0053c0061	a0002c0002t0001 a0012c0010t0001 a0053c0061t0002 a0002c0002t0001 a0012c0010t0001 a0053c0061t0002	a0002c0002t0001g0171 a0012c0010t0001g0130 a0012c0010t0001g0132 others(2): Show a0002c0002t0001g0171 a0012c0010t0001g0130 a0012c0010t0001g0132 a0012c0010t0001g0133 a0053c0061t0002g0214	5	216	0.0232	12	c.918 others(31): Show c.9185+4759_9185+4760insTATATATGTGTA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63			chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631012	A A	AAGAGAGA others(5): Show AAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	316	0.0032	12	c.117 others(31): Show c.1175-1873_1175-1872insGAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631036	G G	GAGAAAGA others(5): Show GAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0061 a0002c0001t0001g0061	1	316	0.0032	12	c.117 others(31): Show c.1175-1849_1175-1848insAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631040	G G	GAGAAAGA others(5): Show GAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02155.hp2 NA19009.hp1 others(1): Show HG02056.hp2 HG02155.hp2 NA19009.hp1 NA19087.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0103 a0002c0001t0001g0147 a0002c0001t0001g0149 others(1): Show a0002c0001t0001g0103 a0002c0001t0001g0147 a0002c0001t0001g0149 a0002c0001t0001g0174	4	316	0.0127	12	c.117 others(31): Show c.1175-1845_1175-1844insAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631044	G G	GAGAAAGA others(5): Show GAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA19005.hp2 HG00323.hp1 NA19005.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0158 a0002c0001t0001g0173 a0002c0001t0001g0158 a0002c0001t0001g0173	2	316	0.0063	12	c.117 others(31): Show c.1175-1841_1175-1840insAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631048	G G	GAGAAAGA others(5): Show GAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp1 HG02015.hp1 HG02040.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0228 a0002c0001t0003g0229 a0002c0001t0003g0228 a0002c0001t0003g0229	2	316	0.0063	12	c.117 others(31): Show c.1175-1837_1175-1836insAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAAAGA others(5): Show GAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG01255.hp1 others(5): Show HG01069.hp1 HG01074.hp1 HG01255.hp1 HG01515.hp2 HG01978.hp2 HG02132.hp2 NA18747.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0002 a0002c0001t0003 a0001c0002t0002 a0002c0001t0002 a0002c0001t0003	a0001c0002t0002g0121 a0002c0001t0002g0006 a0002c0001t0002g0097 others(5): Show a0001c0002t0002g0121 a0002c0001t0002g0006 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0195 a0002c0001t0002g0285 a0002c0001t0002g0292 a0002c0001t0003g0108	8	316	0.0253	12	c.117 others(31): Show c.1175-1816_1175-1805dupAAGAAAGAAAGA	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(5): Show GAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	316	0.0032	12	c.117 others(31): Show c.1175-1833_1175-1832insGAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9636179	A A	AAAAGAAA others(5): Show AAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03942.hp1 HG01123.hp2 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0002	a0001c0002t0001g0161 a0002c0001t0002g0180 a0001c0002t0001g0161 a0002c0001t0002g0180	2	316	0.0063	12	c.147 others(29): Show c.1472+685_1472+696dupAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAATATA others(5): Show AAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	402	0.0025	12	c.131 others(31): Show c.1316+1273_1316+1274insATATATATATTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237351	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	402	0.0025	12	c.131 others(31): Show c.1316+1251_1316+1252insGTATATATATAT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP54_chr12_96484577_96880555	96486137	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01978.hp2 HG02083.hp2 others(3): Show HG00673.hp1 HG01978.hp2 HG02083.hp2 NA19009.hp1 NA19087.hp1 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0012 a0002c0032 a0003c0002 others(1): Show a0001c0012 a0002c0032 a0003c0002 a0006c0006	a0001c0012t0001 a0002c0032t0001 a0003c0002t0001 others(1): Show a0001c0012t0001 a0002c0032t0001 a0003c0002t0001 a0006c0006t0001	a0001c0012t0001g0072 a0002c0032t0001g0222 a0003c0002t0001g0210 others(3): Show a0001c0012t0001g0072 a0002c0032t0001g0222 a0003c0002t0001g0210 a0003c0002t0001g0239 a0006c0006t0001g0053 a0006c0006t0001g0060	6	268	0.0224	12	c.-34 others(23): Show c.-3473_-3472insTTTCTTTCTTTC	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding		3439		chr12	TogoVar
CFAP54_chr12_96484577_96880555	96486932	A A	ATTATTTA others(5): Show ATTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01243.hp1 HG01891.hp2 others(9): Show HG00544.hp2 HG01243.hp1 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02896.hp2 HG02922.hp2 NA18522.hp1 NA18747.hp2 NA18973.hp2 NA19084.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0015 a0037 a0063	a0001c0001 a0004c0005 a0005c0004 others(5): Show a0001c0001 a0004c0005 a0005c0004 a0005c0015 a0005c0041 a0015c0030 a0037c0062 a0063c0099	a0001c0001t0001 a0004c0005t0001 a0005c0004t0001 others(5): Show a0001c0001t0001 a0004c0005t0001 a0005c0004t0001 a0005c0015t0001 a0005c0041t0001 a0015c0030t0003 a0037c0062t0001 a0063c0099t0003	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0025 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0033 a0004c0005t0001g0100 a0005c0004t0001g0011 a0005c0004t0001g0114 a0005c0015t0001g0062 a0005c0041t0001g0057 a0015c0030t0003g0192 a0037c0062t0001g0054 a0063c0099t0003g0195	12	268	0.0448	12	c.-26 others(23): Show c.-2678_-2677insTTATTTATTTAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding		2644		chr12	TogoVar
CFAP54_chr12_96484577_96880555	96495238	C C	CTCCTTCC others(5): Show CTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0215 a0003c0002t0001g0215	1	268	0.0037	12	c.317 others(29): Show c.317+5355_317+5366dupCTTCCTTCCTTC	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	1/67		INFO_REALIGN_3_PRIME	chr12	TogoVar

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