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
CFAP47_chrX_35914734_36390317	35924094	C C	CAGGTGTA others(3): Show CAGGTGTACAT	intron_variant intron_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	10	c.250 others(27): Show c.250-1922_250-1921insGGTGTACATA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35924125	A A	ATATGTAC others(3): Show ATATGTACACC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0053 a0053	a0053c0061 a0053c0061	a0053c0061t0002 a0053c0061t0002	a0053c0061t0002g0214 a0053c0061t0002g0214	1	216	0.0046	10	c.250 others(27): Show c.250-1889_250-1888insGTACACCTAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35924155	A A	ATGTGTAC others(3): Show ATGTGTACACC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0053 a0053	a0053c0061 a0053c0061	a0053c0061t0002 a0053c0061t0002	a0053c0061t0002g0214 a0053c0061t0002g0214	1	216	0.0046	10	c.250 others(27): Show c.250-1861_250-1860insGTGTACACCT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35949140	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG00673.hp1 others(28): Show HG00408.hp1 HG00621.hp1 HG00673.hp1 HG01168.hp1 HG01257.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02273.hp2 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG03041.hp2 HG03239.hp2 HG03516.hp2 HG03669.hp1 HG03831.hp1 HG06807.hp1 NA18952.hp2 NA18962.hp1 NA18968.hp1 NA18970.hp1 NA18992.hp1 NA18994.hp1 NA19030.hp1 NA19057.hp1 NA19074.hp2 NA19085.hp1 NA20752.hp1	a0002 a0006 a0008 others(9): Show a0002 a0006 a0008 a0009 a0011 a0013 a0014 a0015 a0021 a0027 a0032 a0050	a0002c0002 a0002c0013 a0006c0008 others(11): Show a0002c0002 a0002c0013 a0006c0008 a0008c0009 a0009c0012 a0009c0065 a0011c0046 a0013c0011 a0014c0070 a0015c0073 a0021c0021 a0027c0064 a0032c0035 a0050c0062	a0002c0002t0001 a0002c0013t0001 a0006c0008t0001 others(11): Show a0002c0002t0001 a0002c0013t0001 a0006c0008t0001 a0008c0009t0001 a0009c0012t0001 a0009c0065t0001 a0011c0046t0001 a0013c0011t0001 a0014c0070t0001 a0015c0073t0004 a0021c0021t0001 a0027c0064t0001 a0032c0035t0001 a0050c0062t0001	a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 others(28): Show a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0013t0001g0126 a0006c0008t0001g0188 a0006c0008t0001g0189 a0008c0009t0001g0144 a0008c0009t0001g0159 a0008c0009t0001g0164 a0008c0009t0001g0165 a0009c0012t0001g0143 a0009c0012t0001g0145 a0009c0012t0001g0156 a0009c0065t0001g0173 a0011c0046t0001g0187 a0013c0011t0001g0167 a0013c0011t0001g0169 a0013c0011t0001g0172 a0014c0070t0001g0138 a0015c0073t0004g0137 a0021c0021t0001g0209 a0027c0064t0001g0168 a0032c0035t0001g0015 a0050c0062t0001g0216	31	216	0.1435	10	c.656 others(25): Show c.656+713_656+722dupGTGTGTGTGT	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(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG03831.hp1 others(2): Show HG01884.hp1 HG02258.hp1 HG03831.hp1 HG06807.hp1 NA19002.hp1	a0002 a0006 a0012 a0002 a0006 a0012	a0002c0002 a0006c0008 a0012c0010 a0002c0002 a0006c0008 a0012c0010	a0002c0002t0001 a0006c0008t0001 a0012c0010t0001 a0002c0002t0001 a0006c0008t0001 a0012c0010t0001	a0002c0002t0001g0153 a0002c0002t0001g0155 a0006c0008t0001g0188 others(2): Show a0002c0002t0001g0153 a0002c0002t0001g0155 a0006c0008t0001g0188 a0006c0008t0001g0189 a0012c0010t0001g0132	5	216	0.0232	10	c.141 others(29): Show c.1410+4202_1410+4211dupAAAAAAAAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35962926	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0118 a0004c0003t0001g0118	1	216	0.0046	10	c.141 others(29): Show c.1411-3602_1411-3593dupGTGTGTGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36049488	T T	TCTCTTAC others(3): Show TCTCTTACACA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0007 a0007	a0007c0077 a0007c0077	a0007c0077t0001 a0007c0077t0001	a0007c0077t0001g0140 a0007c0077t0001g0140	1	216	0.0046	10	c.421 others(29): Show c.4217+2426_4217+2427insTCTTACACAC	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	26/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36148901	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02717.hp1 HG02886.hp2 others(4): Show HG01346.hp2 HG02717.hp1 HG02886.hp2 HG03098.hp1 HG03453.hp1 NA19030.hp1 NA19082.hp1	a0011 a0015 a0017 others(3): Show a0011 a0015 a0017 a0024 a0025 a0048	a0011c0054 a0015c0018 a0015c0073 others(4): Show a0011c0054 a0015c0018 a0015c0073 a0017c0063 a0024c0025 a0025c0066 a0048c0072	a0011c0054t0001 a0015c0018t0001 a0015c0073t0004 others(4): Show a0011c0054t0001 a0015c0018t0001 a0015c0073t0004 a0017c0063t0001 a0024c0025t0005 a0025c0066t0001 a0048c0072t0001	a0011c0054t0001g0201 a0015c0018t0001g0192 a0015c0073t0004g0137 others(4): Show a0011c0054t0001g0201 a0015c0018t0001g0192 a0015c0073t0004g0137 a0017c0063t0001g0213 a0024c0025t0005g0182 a0025c0066t0001g0170 a0048c0072t0001g0136	7	216	0.0324	10	c.567 others(27): Show c.5671-179_5671-170dupGTGTGTGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	36/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36248496	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01884.hp1 HG02976.hp2 others(5): Show HG00408.hp1 HG01884.hp1 HG02976.hp2 HG03516.hp1 HG06807.hp1 NA18967.hp1 NA19030.hp2 NA21309.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0006 a0012	a0002c0002 a0003c0004 a0005c0005 others(3): Show a0002c0002 a0003c0004 a0005c0005 a0005c0015 a0006c0008 a0012c0027	a0002c0002t0001 a0003c0004t0001 a0005c0005t0001 others(3): Show a0002c0002t0001 a0003c0004t0001 a0005c0005t0001 a0005c0015t0001 a0006c0008t0001 a0012c0027t0001	a0002c0002t0001g0160 a0003c0004t0001g0041 a0003c0004t0001g0176 others(5): Show a0002c0002t0001g0160 a0003c0004t0001g0041 a0003c0004t0001g0176 a0005c0005t0001g0190 a0005c0015t0001g0199 a0006c0008t0001g0188 a0006c0008t0001g0189 a0012c0027t0001g0005	8	216	0.0370	10	c.733 others(29): Show c.7333-2818_7333-2809dupCACACACACA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	48/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36275415	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02055.hp1 HG02109.hp1	a0005 a0030 a0005 a0030	a0005c0005 a0030c0033 a0005c0005 a0030c0033	a0005c0005t0001 a0030c0033t0001 a0005c0005t0001 a0030c0033t0001	a0005c0005t0001g0012 a0030c0033t0001g0016 a0005c0005t0001g0012 a0030c0033t0001g0016	2	216	0.0093	10	c.744 others(29): Show c.7445-5039_7445-5030dupGTGTGTGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	49/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371637	C C	CACACGTA others(3): Show CACACGTATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0026 a0026	a0026c0069 a0026c0069	a0026c0069t0001 a0026c0069t0001	a0026c0069t0001g0147 a0026c0069t0001g0147	1	216	0.0046	10	c.918 others(29): Show c.9185+4514_9185+4515insGTATATACAC	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371727	C C	CATGTGTG others(3): Show CATGTGTGTAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0190 a0005c0005t0001g0190	1	216	0.0046	10	c.918 others(29): Show c.9185+4603_9185+4612dupGTGTGTATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371757	C C	CATGTGTA others(3): Show CATGTGTATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02976.hp2 others(3): Show HG02258.hp1 HG02615.hp1 HG02976.hp2 HG03579.hp1 NA18906.hp1 NA20129.hp2	a0012 a0016 a0012 a0016	a0012c0010 a0012c0027 a0016c0031 others(1): Show a0012c0010 a0012c0027 a0016c0031 a0016c0055	a0012c0010t0001 a0012c0027t0001 a0016c0031t0002 others(1): Show a0012c0010t0001 a0012c0027t0001 a0016c0031t0002 a0016c0055t0002	a0012c0010t0001g0130 a0012c0010t0001g0132 a0012c0010t0001g0133 others(3): Show a0012c0010t0001g0130 a0012c0010t0001g0132 a0012c0010t0001g0133 a0012c0027t0001g0005 a0016c0031t0002g0202 a0016c0055t0002g0191	6	216	0.0278	10	c.918 others(29): Show c.9185+4636_9185+4637insATATATGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371765	T T	TATATGTG others(3): Show TATATGTGTGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0131 a0005c0015t0001g0131	1	216	0.0046	10	c.918 others(29): Show c.9185+4642_9185+4643insGTGTGCATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371776	A A	ATGTGTAT others(3): Show ATGTGTATATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0001 a0006c0028t0001	a0006c0028t0001g0186 a0006c0028t0001g0186	1	216	0.0046	10	c.918 others(29): Show c.9185+4658_9185+4659insGTGTGTATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9584599	T T	TTCAAATA others(3): Show TTCAAATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010	a0001c0002 a0001c0004 a0001c0005 others(9): Show a0001c0002 a0001c0004 a0001c0005 a0001c0012 a0002c0001 a0002c0010 a0002c0011 a0003c0003 a0004c0006 a0005c0008 a0008c0009 a0010c0007	a0001c0002t0001 a0001c0002t0002 a0001c0004t0004 others(12): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0004 a0001c0005t0004 a0001c0012t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0010t0001 a0002c0011t0001 a0003c0003t0001 a0004c0006t0001 a0005c0008t0001 a0008c0009t0001 a0010c0007t0001	a0001c0002t0001g0003 a0001c0002t0001g0023 a0001c0002t0001g0024 others(243): Show a0001c0002t0001g0003 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0072 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0143 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0165 a0001c0002t0001g0170 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0202 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0271 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0282 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0304 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0314 a0001c0002t0002g0002 a0001c0002t0002g0121 a0001c0002t0002g0197 a0001c0004t0004g0036 a0001c0004t0004g0199 a0001c0005t0004g0215 a0001c0012t0001g0022 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0035 a0002c0001t0001g0071 a0002c0001t0001g0079 a0002c0001t0001g0089 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0103 a0002c0001t0001g0110 a0002c0001t0001g0112 a0002c0001t0001g0113 a0002c0001t0001g0114 a0002c0001t0001g0116 a0002c0001t0001g0119 a0002c0001t0001g0128 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0163 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0182 a0002c0001t0001g0190 a0002c0001t0001g0200 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0233 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0254 a0002c0001t0001g0259 a0002c0001t0001g0264 a0002c0001t0001g0265 a0002c0001t0001g0266 a0002c0001t0001g0267 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0270 a0002c0001t0001g0272 a0002c0001t0001g0275 a0002c0001t0001g0279 a0002c0001t0001g0280 a0002c0001t0001g0281 a0002c0001t0001g0286 a0002c0001t0001g0287 a0002c0001t0001g0290 a0002c0001t0001g0297 a0002c0001t0001g0302 a0002c0001t0001g0303 a0002c0001t0001g0308 a0002c0001t0001g0313 a0002c0001t0002g0087 a0002c0001t0002g0091 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0102 a0002c0001t0002g0104 a0002c0001t0002g0109 a0002c0001t0002g0136 a0002c0001t0002g0137 a0002c0001t0002g0138 a0002c0001t0002g0139 a0002c0001t0002g0140 a0002c0001t0002g0141 a0002c0001t0002g0164 a0002c0001t0002g0180 a0002c0001t0002g0181 a0002c0001t0002g0183 a0002c0001t0002g0185 a0002c0001t0002g0188 a0002c0001t0002g0191 a0002c0001t0002g0192 a0002c0001t0002g0195 a0002c0001t0002g0198 a0002c0001t0002g0201 a0002c0001t0002g0203 a0002c0001t0002g0204 a0002c0001t0002g0205 a0002c0001t0002g0206 a0002c0001t0002g0211 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0002g0220 a0002c0001t0002g0225 a0002c0001t0002g0247 a0002c0001t0002g0253 a0002c0001t0002g0258 a0002c0001t0002g0285 a0002c0001t0002g0291 a0002c0001t0002g0292 a0002c0001t0002g0312 a0002c0001t0003g0106 a0002c0001t0003g0107 a0002c0001t0003g0108 a0002c0001t0003g0187 a0002c0001t0003g0228 a0002c0001t0003g0229 a0002c0001t0003g0230 a0002c0010t0001g0142 a0002c0011t0001g0277 a0003c0003t0001g0130 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0001g0295 a0004c0006t0001g0131 a0004c0006t0001g0315 a0005c0008t0001g0261 a0008c0009t0001g0305 a0010c0007t0001g0134	246	316	0.7785	10	c.71- others(25): Show c.71-1174_71-1173insTCAAATATAC	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	1/13			chr17	TogoVar
CFAP52_chr17_9571642_9648447	9589801	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp1 HG01109.hp2 others(7): Show HG00735.hp2 HG01071.hp1 HG01109.hp2 HG01192.hp1 HG01433.hp2 HG02258.hp2 HG03453.hp1 HG04184.hp1 HG04184.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0001 a0002c0001t0002	a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0176 others(7): Show a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0176 a0001c0002t0001g0260 a0002c0001t0001g0055 a0002c0001t0002g0058 a0002c0001t0002g0087 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0002g0258	10	316	0.0317	10	c.407 others(27): Show c.407+2972_407+2981dupTTTTTTTTTT	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9596059	G G	GTGTGTGT others(3): Show GTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	316	0.0032	10	c.536 others(27): Show c.536+1739_536+1740insGTGTGTATAT	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9596059	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA20752.hp2 HG02602.hp2 NA20752.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0037 a0002c0001t0002g0203 a0002c0001t0002g0037 a0002c0001t0002g0203	2	316	0.0063	10	c.536 others(27): Show c.536+1739_536+1740insGTGTGTGTAT	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9597803	A A	AAGAGAGA others(3): Show AAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0219	1	316	0.0032	10	c.537 others(25): Show c.537-413_537-404dupGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631024	A A	AAGAGAGA others(3): Show AAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	316	0.0032	10	c.117 others(29): Show c.1175-1861_1175-1860insGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAGAGA others(3): Show AAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0074 a0001c0005t0001g0074	1	316	0.0032	10	c.117 others(29): Show c.1175-1842_1175-1833dupGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631044	G G	GAAAGAAA others(3): Show GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0275 a0002c0001t0001g0275	1	316	0.0032	10	c.117 others(29): Show c.1175-1843_1175-1842insAAGAAAGAAA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAAAGAAA others(3): Show GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01975.hp2 others(4): Show HG00099.hp2 HG00280.hp2 HG01975.hp2 HG02004.hp1 HG02273.hp1 HG03209.hp2 HG04204.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0188 a0002c0001t0002g0201 others(4): Show a0002c0001t0002g0005 a0002c0001t0002g0188 a0002c0001t0002g0201 a0002c0001t0002g0205 a0002c0001t0002g0206 a0002c0001t0002g0211 a0002c0001t0002g0247	7	316	0.0222	10	c.117 others(29): Show c.1175-1835_1175-1834insAAGAAAGAAA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAAA others(3): Show GAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01515.hp1 HG01257.hp1 HG01257.hp2 HG01515.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0056 a0002c0001t0002g0185 a0002c0001t0002g0312 a0002c0001t0002g0056 a0002c0001t0002g0185 a0002c0001t0002g0312	3	316	0.0095	10	c.117 others(29): Show c.1175-1833_1175-1832insGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631082	G G	GAAAGAAA others(3): Show GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	316	0.0032	10	c.117 others(29): Show c.1175-1805_1175-1804insAAGAAAGAAA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9647061	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03098.hp1 HG01884.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0011 a0001c0005 a0002c0011	a0001c0005t0001 a0002c0011t0001 a0001c0005t0001 a0002c0011t0001	a0001c0005t0001g0077 a0002c0011t0001g0277 a0001c0005t0001g0077 a0002c0011t0001g0277	2	316	0.0063	10	c.38 others(21): Show c.3863_*3864insAAAAAAAAAA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding		3615		chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAATA others(3): Show AAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18947.hp1 NA18963.hp1 others(4): Show NA18940.hp2 NA18947.hp1 NA18963.hp1 NA18965.hp2 NA18975.hp2 NA18993.hp2 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0037 a0002c0002t0001g0042 others(2): Show a0002c0002t0001g0003 a0002c0002t0001g0037 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0046	7	402	0.0174	10	c.131 others(29): Show c.1316+1273_1316+1274insATATATTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAATATA others(3): Show AAAATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0362 a0008c0013t0001g0362	1	402	0.0025	10	c.131 others(29): Show c.1316+1273_1316+1274insATATATATTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP54_chr12_96484577_96880555	96485699	G G	GCCCTCCC others(3): Show GCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0001 a0020c0024t0001	a0020c0024t0001g0109 a0020c0024t0001g0109	1	268	0.0037	10	c.-39 others(21): Show c.-3911_-3910insCCCTCCCCTC	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding		3877		chr12	TogoVar
CFAP54_chr12_96484577_96880555	96486137	T T	TCTTTTCT others(3): Show TCTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0030 a0030	a0030c0064 a0030c0064	a0030c0064t0001 a0030c0064t0001	a0030c0064t0001g0209 a0030c0064t0001g0209	1	268	0.0037	10	c.-34 others(21): Show c.-3473_-3472insCTTTTCTTTC	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding		3439		chr12	TogoVar
CFAP54_chr12_96484577_96880555	96486191	T T	TTCTTTCT others(3): Show TTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0232 a0003c0002t0001g0232	1	268	0.0037	10	c.-34 others(21): Show c.-3419_-3418insTCTTTCTTTC	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding		3385		chr12	TogoVar
CFAP54_chr12_96484577_96880555	96499947	A A	AAAAACAA others(3): Show AAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01168.hp1 others(12): Show HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01496.hp2 HG02486.hp2 HG02735.hp1 HG02895.hp2 HG03130.hp1 HG03942.hp2 NA18942.hp1 NA18966.hp1 NA18983.hp1 NA19004.hp1 NA19054.hp1 NA19065.hp1	a0003 a0004 a0009 others(5): Show a0003 a0004 a0009 a0010 a0012 a0015 a0017 a0033	a0003c0072 a0004c0005 a0009c0008 others(6): Show a0003c0072 a0004c0005 a0009c0008 a0010c0013 a0012c0021 a0015c0030 a0015c0100 a0017c0066 a0033c0076	a0003c0072t0001 a0004c0005t0001 a0009c0008t0001 others(6): Show a0003c0072t0001 a0004c0005t0001 a0009c0008t0001 a0010c0013t0001 a0012c0021t0001 a0015c0030t0001 a0015c0100t0001 a0017c0066t0001 a0033c0076t0001	a0003c0072t0001g0245 a0004c0005t0001g0231 a0009c0008t0001g0206 others(12): Show a0003c0072t0001g0245 a0004c0005t0001g0231 a0009c0008t0001g0206 a0009c0008t0001g0207 a0010c0013t0001g0185 a0010c0013t0001g0187 a0010c0013t0001g0188 a0010c0013t0001g0189 a0012c0021t0001g0203 a0012c0021t0001g0204 a0012c0021t0001g0205 a0015c0030t0001g0193 a0015c0100t0001g0194 a0017c0066t0001g0186 a0033c0076t0001g0179	15	268	0.0560	10	c.318 others(25): Show c.318-857_318-848dupCAAAACAAAA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	1/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96507534	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp2 NA18942.hp1 others(2): Show HG02970.hp1 HG03516.hp2 NA18942.hp1 NA18983.hp1 NA19054.hp1	a0012 a0026 a0012 a0026	a0012c0021 a0026c0025 a0012c0021 a0026c0025	a0012c0021t0001 a0026c0025t0001 a0012c0021t0001 a0026c0025t0001	a0012c0021t0001g0203 a0012c0021t0001g0204 a0012c0021t0001g0205 others(2): Show a0012c0021t0001g0203 a0012c0021t0001g0204 a0012c0021t0001g0205 a0026c0025t0001g0002 a0026c0025t0001g0003	5	268	0.0187	10	c.739 others(25): Show c.739+451_739+460dupCACACACACA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	4/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96512301	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18973.hp1 NA18989.hp1 others(2): Show HG00408.hp2 NA18973.hp1 NA18989.hp1 NA19004.hp2 NA19084.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0015 a0001c0001 a0002c0003 a0005c0015	a0001c0001t0001 a0002c0003t0001 a0005c0015t0001 a0001c0001t0001 a0002c0003t0001 a0005c0015t0001	a0001c0001t0001g0064 a0001c0001t0001g0069 a0002c0003t0001g0121 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0069 a0002c0003t0001g0121 a0002c0003t0001g0156 a0005c0015t0001g0062	5	268	0.0187	10	c.740 others(25): Show c.740-645_740-636dupATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	4/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96516292	A A	AGAGATGT others(3): Show AGAGATGTGCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp2 HG02559.hp2 others(1): Show HG00280.hp2 HG01243.hp2 HG02559.hp2 HG02922.hp1	a0004 a0008 a0054 others(1): Show a0004 a0008 a0054 a0059	a0004c0005 a0008c0009 a0054c0034 others(1): Show a0004c0005 a0008c0009 a0054c0034 a0059c0060	a0004c0005t0001 a0008c0009t0001 a0054c0034t0001 others(1): Show a0004c0005t0001 a0008c0009t0001 a0054c0034t0001 a0059c0060t0001	a0004c0005t0001g0103 a0008c0009t0001g0104 a0054c0034t0001g0006 others(1): Show a0004c0005t0001g0103 a0008c0009t0001g0104 a0054c0034t0001g0006 a0059c0060t0001g0005	4	268	0.0149	10	c.799 others(27): Show c.799-2631_799-2622dupTGTGCTGAGA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	5/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96536987	A A	ACAATTCA others(3): Show ACAATTCAATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0030 a0030	a0030c0064 a0030c0064	a0030c0064t0001 a0030c0064t0001	a0030c0064t0001g0209 a0030c0064t0001g0209	1	268	0.0037	10	c.179 others(29): Show c.1792-1377_1792-1368dupTCAATTCAAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	12/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96539064	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02738.hp2 HG02886.hp2 others(1): Show HG02129.hp2 HG02738.hp2 HG02886.hp2 NA20300.hp2	a0003 a0031 a0003 a0031	a0003c0002 a0031c0074 a0003c0002 a0031c0074	a0003c0002t0001 a0031c0074t0001 a0003c0002t0001 a0031c0074t0001	a0003c0002t0001g0219 a0003c0002t0001g0221 a0003c0002t0001g0249 others(1): Show a0003c0002t0001g0219 a0003c0002t0001g0221 a0003c0002t0001g0249 a0031c0074t0001g0243	4	268	0.0149	10	c.192 others(27): Show c.1926+550_1926+559dupTTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	13/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96551485	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0159 a0002c0003t0001g0159	1	268	0.0037	10	c.215 others(29): Show c.2155-2667_2155-2658dupGTGTGTGTGT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96617989	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00544.hp1 others(64): Show HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01256.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG02004.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 NA18522.hp2 NA18747.hp1 NA18944.hp2 NA18954.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18984.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA19012.hp1 NA19063.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp2	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0007 a0008 a0016 a0025 a0027 a0028 a0030 a0031 a0038 a0042 a0045 a0046 a0047 a0048 a0055 a0057 a0060	a0001c0001 a0002c0003 a0002c0007 others(27): Show a0001c0001 a0002c0003 a0002c0007 a0002c0032 a0002c0058 a0002c0091 a0004c0088 a0007c0028 a0007c0071 a0007c0075 a0007c0077 a0008c0009 a0008c0055 a0008c0056 a0008c0087 a0016c0022 a0025c0029 a0027c0095 a0028c0079 a0030c0064 a0031c0074 a0038c0093 a0042c0092 a0045c0057 a0046c0053 a0047c0054 a0048c0061 a0055c0089 a0057c0090 a0060c0094	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(28): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 a0002c0032t0001 a0002c0058t0001 a0002c0091t0001 a0004c0088t0001 a0007c0028t0001 a0007c0071t0001 a0007c0075t0001 a0007c0077t0001 a0008c0009t0001 a0008c0055t0001 a0008c0056t0001 a0008c0087t0001 a0016c0022t0001 a0025c0029t0001 a0027c0095t0001 a0028c0079t0001 a0030c0064t0001 a0031c0074t0001 a0038c0093t0001 a0042c0092t0001 a0045c0057t0001 a0046c0053t0001 a0047c0054t0001 a0048c0061t0001 a0055c0089t0001 a0057c0090t0001 a0060c0094t0001	a0001c0001t0001g0082 a0002c0003t0001g0121 a0002c0003t0001g0122 others(64): Show a0001c0001t0001g0082 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0127 a0002c0003t0001g0131 a0002c0003t0001g0133 a0002c0003t0001g0139 a0002c0003t0001g0143 a0002c0003t0001g0151 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0159 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0177 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0007t0001g0124 a0002c0007t0001g0125 a0002c0007t0001g0134 a0002c0007t0001g0135 a0002c0007t0001g0136 a0002c0007t0001g0137 a0002c0007t0001g0149 a0002c0007t0001g0152 a0002c0007t0001g0154 a0002c0032t0001g0222 a0002c0058t0001g0077 a0002c0091t0001g0138 a0004c0088t0001g0140 a0007c0028t0001g0181 a0007c0028t0001g0182 a0007c0071t0001g0180 a0007c0075t0001g0015 a0007c0077t0001g0183 a0008c0009t0001g0019 a0008c0009t0001g0027 a0008c0009t0001g0028 a0008c0009t0001g0063 a0008c0009t0001g0104 a0008c0055t0001g0042 a0008c0056t0001g0020 a0008c0087t0001g0178 a0016c0022t0001g0217 a0016c0022t0001g0223 a0025c0029t0001g0001 a0025c0029t0001g0176 a0027c0095t0001g0126 a0028c0079t0001g0184 a0030c0064t0001g0209 a0031c0074t0001g0243 a0038c0093t0001g0158 a0042c0092t0001g0160 a0045c0057t0001g0106 a0046c0053t0001g0022 a0047c0054t0001g0105 a0048c0061t0001g0017 a0055c0089t0001g0150 a0057c0090t0001g0123 a0060c0094t0001g0147	67	268	0.2500	10	c.364 others(29): Show c.3640-3600_3640-3591dupAAAAAAAAAA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	26/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96621871	G G	GTTTCTTT others(3): Show GTTTCTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19091.hp1 NA19012.hp2 NA19091.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0110 a0005c0004t0001g0116 a0005c0004t0001g0110 a0005c0004t0001g0116	2	268	0.0075	10	c.377 others(27): Show c.3771+153_3771+154insCTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	27/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96621875	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18973.hp2 NA19081.hp1 HG02148.hp1 NA18973.hp2 NA19081.hp1	a0005 a0005	a0005c0004 a0005c0015 a0005c0004 a0005c0015	a0005c0004t0001 a0005c0015t0001 a0005c0004t0001 a0005c0015t0001	a0005c0004t0001g0112 a0005c0004t0001g0114 a0005c0015t0001g0102 a0005c0004t0001g0112 a0005c0004t0001g0114 a0005c0015t0001g0102	3	268	0.0112	10	c.377 others(27): Show c.3771+177_3771+186dupTTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	27/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96647472	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03579.hp2 HG03130.hp1 HG03579.hp2	a0004 a0004	a0004c0005 a0004c0011 a0004c0005 a0004c0011	a0004c0005t0001 a0004c0011t0001 a0004c0005t0001 a0004c0011t0001	a0004c0005t0001g0231 a0004c0011t0001g0120 a0004c0005t0001g0231 a0004c0011t0001g0120	2	268	0.0075	10	c.454 others(27): Show c.4548-388_4548-379dupAAAAAAAAAA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	33/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96654832	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG01081.hp2 others(9): Show HG00423.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01928.hp2 HG03704.hp1 NA18949.hp1 NA18966.hp1 NA18968.hp2 NA19058.hp1 NA19064.hp2 NA19090.hp1	a0009 a0010 a0022 others(2): Show a0009 a0010 a0022 a0049 a0062	a0009c0008 a0010c0013 a0022c0059 others(2): Show a0009c0008 a0010c0013 a0022c0059 a0049c0044 a0062c0098	a0009c0008t0001 a0010c0013t0001 a0022c0059t0001 others(2): Show a0009c0008t0001 a0010c0013t0001 a0022c0059t0001 a0049c0044t0001 a0062c0098t0001	a0009c0008t0001g0197 a0009c0008t0001g0198 a0009c0008t0001g0199 others(9): Show a0009c0008t0001g0197 a0009c0008t0001g0198 a0009c0008t0001g0199 a0009c0008t0001g0200 a0009c0008t0001g0201 a0009c0008t0001g0202 a0009c0008t0001g0207 a0010c0013t0001g0187 a0010c0013t0001g0189 a0022c0059t0001g0092 a0049c0044t0001g0030 a0062c0098t0001g0208	12	268	0.0448	10	c.510 others(29): Show c.5100+3024_5100+3033dupTTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96664622	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0012 a0012	a0012c0097 a0012c0097	a0012c0097t0001 a0012c0097t0001	a0012c0097t0001g0196 a0012c0097t0001g0196	1	268	0.0037	10	c.556 others(27): Show c.5563+716_5563+725dupGTGTGTGTGT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96664779	A A	ATATCTAT others(3): Show ATATCTATATC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0047 a0047	a0047c0054 a0047c0054	a0047c0054t0001 a0047c0054t0001	a0047c0054t0001g0105 a0047c0054t0001g0105	1	268	0.0037	10	c.556 others(27): Show c.5563+850_5563+851insCTATATCTAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96752085	T T	TGAGAGAG others(3): Show TGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01515.hp2 HG02293.hp2 others(14): Show HG01358.hp1 HG01515.hp2 HG02293.hp2 HG02630.hp1 HG02895.hp1 HG02896.hp1 HG03490.hp2 HG03579.hp2 HG03669.hp1 HG03942.hp2 NA18944.hp2 NA18954.hp2 NA18970.hp2 NA18984.hp2 NA19064.hp1 NA19084.hp2 NA19091.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0008 a0017 a0019 a0021	a0001c0001 a0002c0007 a0004c0011 others(9): Show a0001c0001 a0002c0007 a0004c0011 a0004c0081 a0005c0004 a0005c0015 a0005c0020 a0006c0006 a0008c0009 a0017c0066 a0019c0023 a0021c0027	a0001c0001t0001 a0002c0007t0001 a0004c0011t0001 others(9): Show a0001c0001t0001 a0002c0007t0001 a0004c0011t0001 a0004c0081t0001 a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 a0006c0006t0001 a0008c0009t0001 a0017c0066t0001 a0019c0023t0001 a0021c0027t0001	a0001c0001t0001g0071 a0001c0001t0001g0074 a0002c0007t0001g0134 others(14): Show a0001c0001t0001g0071 a0001c0001t0001g0074 a0002c0007t0001g0134 a0004c0011t0001g0118 a0004c0011t0001g0120 a0004c0081t0001g0128 a0005c0004t0001g0013 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0015t0001g0016 a0005c0015t0001g0062 a0005c0020t0001g0213 a0006c0006t0001g0096 a0008c0009t0001g0028 a0017c0066t0001g0186 a0019c0023t0001g0039 a0021c0027t0001g0067	17	268	0.0634	10	c.768 others(29): Show c.7685-1619_7685-1610dupGAGAGAGAGA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	55/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96755666	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0102 a0005c0015t0001g0102	1	268	0.0037	10	c.784 others(27): Show c.7841-782_7841-773dupTTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	56/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96806159	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01928.hp2 HG03516.hp1 others(1): Show HG01256.hp1 HG01928.hp2 HG03516.hp1 NA18973.hp1	a0002 a0014 a0045 others(1): Show a0002 a0014 a0045 a0049	a0002c0003 a0014c0014 a0045c0057 others(1): Show a0002c0003 a0014c0014 a0045c0057 a0049c0044	a0002c0003t0001 a0014c0014t0001 a0045c0057t0001 others(1): Show a0002c0003t0001 a0014c0014t0001 a0045c0057t0001 a0049c0044t0001	a0002c0003t0001g0121 a0014c0014t0001g0161 a0045c0057t0001g0106 others(1): Show a0002c0003t0001g0121 a0014c0014t0001g0161 a0045c0057t0001g0106 a0049c0044t0001g0030	4	268	0.0149	10	c.885 others(29): Show c.8851-5531_8851-5522dupTATATATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	63/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96806213	T T	TATATATA others(3): Show TATATATATAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18968.hp1 NA18990.hp1 NA18942.hp1 NA18968.hp1 NA18990.hp1	a0003 a0005 a0012 a0003 a0005 a0012	a0003c0002 a0005c0004 a0012c0021 a0003c0002 a0005c0004 a0012c0021	a0003c0002t0001 a0005c0004t0001 a0012c0021t0001 a0003c0002t0001 a0005c0004t0001 a0012c0021t0001	a0003c0002t0001g0241 a0005c0004t0001g0108 a0012c0021t0001g0204 a0003c0002t0001g0241 a0005c0004t0001g0108 a0012c0021t0001g0204	3	268	0.0112	10	c.885 others(29): Show c.8851-5522_8851-5521insTATATATAAA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	63/67		INFO_REALIGN_3_PRIME	chr12	TogoVar

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