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
CERS6_chr2_168451272_168780134	168559733	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00621.hp1 others(12): Show HG00280.hp2 HG00609.hp1 HG00621.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02622.hp1 HG02895.hp1 HG03834.hp1 NA18949.hp1 NA19056.hp2 NA19076.hp2 NA19085.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0021 a0001c0002t0003	a0001c0001t0001g0089 a0001c0001t0001g0123 a0001c0001t0001g0159 others(12): Show a0001c0001t0001g0089 a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0002g0028 a0001c0001t0002g0113 a0001c0001t0003g0095 a0001c0001t0003g0118 a0001c0001t0004g0128 a0001c0001t0005g0043 a0001c0001t0005g0136 a0001c0001t0006g0008 a0001c0001t0021g0087 a0001c0002t0003g0077	15	176	0.0852	18	c.277 others(35): Show c.277-1459_277-1458insTATATATATATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168620062	C C	CACACACA others(11): Show CACACACACATATACATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18984.hp2 NA19009.hp2 others(1): Show NA18945.hp1 NA18984.hp2 NA19009.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0035 a0001c0001t0001 a0001c0001t0002 a0001c0001t0035	a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0002g0151 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0002g0151 a0001c0001t0035g0156	4	176	0.0227	18	c.408 others(37): Show c.408-10922_408-10921insCACACACATATACATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02717.hp1 HG02818.hp1 others(3): Show HG00544.hp2 HG02717.hp1 HG02818.hp1 NA18953.hp1 NA18977.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0288 others(3): Show a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0288 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0054	6	336	0.0179	18	c.118 others(37): Show c.1189-3933_1189-3916dupTTTTTTTTTTTTTTTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CES5A_chr16_55841154_55880373	55866658	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01081.hp2 others(3): Show HG00323.hp1 HG01069.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG02040.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0007c0068 a0003c0004 a0007c0068	a0003c0004t0004 a0003c0004t0006 a0007c0068t0004 a0003c0004t0004 a0003c0004t0006 a0007c0068t0004	a0003c0004t0004g0053 a0003c0004t0004g0066 a0003c0004t0004g0072 others(3): Show a0003c0004t0004g0053 a0003c0004t0004g0066 a0003c0004t0004g0072 a0003c0004t0004g0092 a0003c0004t0006g0185 a0007c0068t0004g0131	6	449	0.0134	18	c.552 others(33): Show c.552-560_552-543dupTTTTTTTTTTTTTTTTTT	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	4/12			chr16	TogoVar
CES5A_chr16_55841154_55880373	55867716	C C	CTTATTAT others(11): Show CTTATTATCTGGGTGACCT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0006 a0003c0011t0006	a0003c0011t0006g0173 a0003c0011t0006g0173	1	449	0.0022	18	c.552 others(35): Show c.552-1601_552-1600insAGGTCACCCAGATAATAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	4/12			chr16	TogoVar
CETN1_chr18_575380_587114	576446	G G	GGAAGGAA others(11): Show GGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01243.hp1 HG02818.hp1 others(5): Show HG01123.hp1 HG01243.hp1 HG02818.hp1 HG03017.hp2 HG04199.hp1 NA18942.hp1 NA18943.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 a0002c0002t0001g0000	8	422	0.0190	18	c.-39 others(29): Show c.-3963_-3962insGAAGGAAGGAAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3933		chr18	TogoVar
CETN1_chr18_575380_587114	586797	A A	AGATCAGC others(11): Show AGATCAGCGGAAGCAGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	422	0.0024	18	c.58 others(29): Show c.5870_*5871insGATCAGCGGAAGCAGAAT	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		4684		chr18	TogoVar
CFAP100_chr3_126389909_126441556	126401397	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0382 a0002c0004t0001g0382	1	422	0.0024	18	c.49+ others(33): Show c.49+5349_49+5350insTTATATATATATATATAT	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP141_chr1_154194085_154211333	154203172	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	372	0.0027	18	c.74+ others(33): Show c.74+2408_74+2425dupATATATATATATATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP206_chr6_87402972_87469465	87447951	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(83): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00639.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG03942.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18959.hp1 NA18966.hp1 NA18971.hp2 NA18985.hp2 NA18986.hp2 NA18994.hp2 NA19003.hp2 NA19012.hp1 NA19030.hp1 NA19058.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19083.hp1 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0011	a0001c0001 a0001c0007 a0002c0002 others(3): Show a0001c0001 a0001c0007 a0002c0002 a0005c0006 a0008c0009 a0011c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0007t0001 a0002c0002t0002 a0005c0006t0002 a0008c0009t0002 a0011c0012t0002	a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0113 others(76): Show a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0113 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0183 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0335 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0007t0001g0240 a0001c0007t0001g0241 a0002c0002t0002g0258 a0005c0006t0002g0033 a0005c0006t0002g0055 a0005c0006t0002g0059 a0005c0006t0002g0067 a0008c0009t0002g0072 a0008c0009t0002g0114 a0011c0012t0002g0108	86	376	0.2287	18	c.149 others(39): Show c.1494+12899_1494+12916dupTTATTATTATTATTATTA	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP206_chr6_87402972_87469465	87447971	T T	TATTATTA others(11): Show TATTATTATTATTATTATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0229 a0007c0011t0001g0229	1	376	0.0027	18	c.149 others(39): Show c.1494+12920_1494+12921insTATTATTATTATTATAAT	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP20DC_chr3_58737008_59055025	58801050	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 NA18962.hp1 HG02559.hp1 HG02622.hp2 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0188 a0001c0002t0001g0201 a0001c0002t0002g0146 a0001c0002t0001g0188 a0001c0002t0001g0201 a0001c0002t0002g0146	3	204	0.0147	18	c.223 others(37): Show c.2237+5327_2237+5344dupTCTCTCTCTCTCTCTCTC	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58963190	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0134	1	204	0.0049	18	c.279 others(37): Show c.279-25446_279-25429dupCACACACACACACACACA	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58990754	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	204	0.0049	18	c.278 others(37): Show c.278+48785_278+48802dupACACACACACACACACAC	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16			chr3	TogoVar
CFAP221_chr2_119539449_119661661	119628294	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03654.hp1 NA19084.hp2 HG02559.hp2 HG03654.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0190 a0001c0001t0001g0223 a0002c0002t0001g0040 a0001c0001t0001g0190 a0001c0001t0001g0223 a0002c0002t0001g0040	3	226	0.0133	18	c.165 others(35): Show c.1650+531_1650+548dupGTGTGTGTGTGTGTGTGT	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP251_chr12_121913592_122008919	121934655	T T	TATCGCTG others(11): Show TATCGCTGCTCCTCATTCC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	354	0.0028	18	c.998 others(33): Show c.998+302_998+319dupCGCTGCTCCTCATTCCAT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121952240	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19054.hp1 HG00140.hp2 NA19054.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0020 a0004c0002t0001g0047 a0004c0002t0001g0020 a0004c0002t0001g0047	2	354	0.0057	18	c.132 others(35): Show c.1320+724_1320+741dupAAAAAAAAAAAAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121978393	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18942.hp1 HG02257.hp2 NA18942.hp1	a0003 a0003	a0003c0003 a0003c0009 a0003c0003 a0003c0009	a0003c0003t0001 a0003c0009t0001 a0003c0003t0001 a0003c0009t0001	a0003c0003t0001g0350 a0003c0009t0001g0062 a0003c0003t0001g0350 a0003c0009t0001g0062	2	354	0.0057	18	c.300 others(37): Show c.3006+2719_3006+2736dupAAAAAAAAAAAAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP276_chr1_109100951_109117747	109113396	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02040.hp2 NA18939.hp1 others(1): Show HG00597.hp1 HG02040.hp2 NA18939.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0058 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0058 a0001c0001t0001g0065	4	404	0.0099	18	c.-71 others(27): Show c.-718_-717insTTCTCTCTCTCTCTCTCT	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		650		chr1	TogoVar
CFAP276_chr1_109100951_109117747	109113451	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01257.hp1 others(10): Show HG00099.hp1 HG00733.hp1 HG01257.hp1 HG01261.hp1 HG02071.hp1 HG02273.hp1 HG02970.hp2 NA18964.hp1 NA18970.hp2 NA18983.hp1 NA18994.hp1 NA18995.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0063	13	404	0.0322	18	c.-77 others(27): Show c.-773_-772insACTCCCTCTCTCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		705		chr1	TogoVar
CFAP276_chr1_109100951_109117747	109113467	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	404	0.0025	18	c.-78 others(27): Show c.-789_-788insCCTCTCTCTCTCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		721		chr1	TogoVar
CFAP298_chr21_32594354_32617377	32611318	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0082 a0001c0001t0008g0082	1	416	0.0024	18	c.139 others(33): Show c.139+769_139+786dupATATATATATATATATAT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP298_chr21_32594354_32617377	32611338	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0193 a0001c0001t0010g0194 a0001c0001t0010g0193 a0001c0001t0010g0194	2	416	0.0048	18	c.139 others(33): Show c.139+766_139+767insTTATATATATATATATAT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18964.hp1 HG00408.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0010 a0001c0001t0001g0040	2	96	0.0208	18	c.242 others(35): Show c.242+1217_242+1234dupCACACACACACACACACA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80390823	G G	GTATATAT others(11): Show GTATATATGTATATACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	96	0.0104	18	c.242 others(37): Show c.242+27944_242+27945insATGTATATACACATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80572507	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	96	0.0104	18	c.243 others(37): Show c.243-10575_243-10558dupTTTTTTTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80581453	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02258.hp2 HG02280.hp2 others(8): Show HG00597.hp2 HG02258.hp2 HG02280.hp2 HG02735.hp1 HG02886.hp1 HG02897.hp1 HG03139.hp1 HG03225.hp2 HG06807.hp2 NA19060.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0031 others(8): Show a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0004t0001g0022 a0002c0002t0001g0012 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0005t0001g0071	11	96	0.1146	18	c.243 others(35): Show c.243-1621_243-1604dupATATATATATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80669145	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	96	0.0104	18	c.333 others(37): Show c.333+85965_333+85966insTTTTTTTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80866059	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18998.hp2 NA18963.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0064 a0002c0002t0001g0006 a0001c0001t0001g0064 a0002c0002t0001g0006	2	96	0.0208	18	c.334 others(35): Show c.334-3914_334-3897dupATATATATATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80866059	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0047 a0002c0007t0001g0047	1	96	0.0104	18	c.334 others(35): Show c.334-3933_334-3932insTTATATATATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80937312	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03041.hp1 HG03130.hp2 others(2): Show HG02040.hp2 HG03041.hp1 HG03130.hp2 NA18963.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0063 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0063 a0002c0002t0001g0002 a0002c0002t0001g0067	5	96	0.0521	18	c.477 others(35): Show c.477-7493_477-7476dupTTTTTTTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP43_chr10_104124888_104237364	104157775	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	306	0.0033	18	c.354 others(37): Show c.3540+3244_3540+3261dupTCTCTCTCTCTCTCTCTC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP43_chr10_104124888_104237364	104157775	T T	TGTGTGAG others(11): Show TGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03139.hp2 HG02723.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0275 a0001c0001t0001g0276	2	306	0.0065	18	c.354 others(37): Show c.3540+3261_3540+3262insTCTCTCTCTCTCTCACAC	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding	27/37			chr10	TogoVar
CFAP44_chr3_113281930_113446493	113302457	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0047 a0009c0011t0047	a0009c0011t0047g0172 a0009c0011t0047g0172	1	348	0.0029	18	c.507 others(37): Show c.5077+1441_5077+1458dupTTTTTTTTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	32/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113324042	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18946.hp2 NA18977.hp2 others(4): Show NA18945.hp2 NA18946.hp2 NA18977.hp2 NA19066.hp1 NA19079.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0005 a0027 a0005 a0027	a0005c0005 a0027c0044 a0005c0005 a0027c0044	a0005c0005t0010 a0005c0005t0015 a0005c0005t0059 others(1): Show a0005c0005t0010 a0005c0005t0015 a0005c0005t0059 a0027c0044t0010	a0005c0005t0010g0008 a0005c0005t0010g0014 a0005c0005t0010g0018 others(4): Show a0005c0005t0010g0008 a0005c0005t0010g0014 a0005c0005t0010g0018 a0005c0005t0015g0020 a0005c0005t0015g0021 a0005c0005t0059g0022 a0027c0044t0010g0297	7	348	0.0201	18	c.451 others(37): Show c.4516+2402_4516+2403insTTTTTTTTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	28/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113356906	C C	CACACATA others(11): Show CACACATACACACACATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp1 HG03209.hp2 HG02809.hp1 HG03139.hp1 HG03209.hp2	a0020 a0034 a0020 a0034	a0020c0020 a0034c0031 a0020c0020 a0034c0031	a0020c0020t0011 a0034c0031t0011 a0020c0020t0011 a0034c0031t0011	a0020c0020t0011g0005 a0034c0031t0011g0274 a0020c0020t0011g0005 a0034c0031t0011g0274	3	348	0.0086	18	c.306 others(37): Show c.3065+1821_3065+1838dupATATGTGTGTGTATGTGT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	22/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113433429	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18944.hp1 HG02055.hp1 NA18944.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0017 a0002c0002 a0011c0017	a0002c0002t0002 a0011c0017t0041 a0002c0002t0002 a0011c0017t0041	a0002c0002t0002g0035 a0011c0017t0041g0041 a0002c0002t0002g0035 a0011c0017t0041g0041	2	348	0.0058	18	c.100 others(33): Show c.100+118_100+135dupTTTTTTTTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	2/34			chr3	TogoVar
CFAP45_chr1_159867364_159905165	159878753	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02717.hp1 HG02738.hp1 others(10): Show HG02080.hp2 HG02717.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp1 NA18949.hp2 NA18954.hp2 NA18964.hp1 NA18990.hp2 NA18993.hp2 NA19001.hp1 NA19066.hp2 NA19080.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0001 a0009c0011t0001 a0001c0001t0001 a0009c0011t0001	a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0156 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0192 a0001c0001t0001g0230 a0001c0001t0001g0267 a0009c0011t0001g0112	13	410	0.0317	18	c.104 others(37): Show c.1045-1309_1045-1292dupTTTTTTTTTTTTTTTTTT	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	8/11			chr1	TogoVar
CFAP46_chr10_132803392_132947570	132821953	G G	GTGTGTGC others(11): Show GTGTGTGCTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp2 HG02886.hp1 HG00733.hp2 HG02109.hp2 HG02886.hp1	a0038 a0064 a0065 a0038 a0064 a0065	a0038c0037 a0064c0101 a0065c0102 a0038c0037 a0064c0101 a0065c0102	a0038c0037t0001 a0064c0101t0002 a0065c0102t0002 a0038c0037t0001 a0064c0101t0002 a0065c0102t0002	a0038c0037t0001g0230 a0064c0101t0002g0022 a0065c0102t0002g0018 a0038c0037t0001g0230 a0064c0101t0002g0022 a0065c0102t0002g0018	3	246	0.0122	18	c.711 others(37): Show c.7118-7040_7118-7039insTCACACACACAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132824718	T T	TGCTGTGT others(11): Show TGCTGTGTGCTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(106): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02809.hp2 HG02886.hp1 HG03017.hp1 HG03017.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18950.hp2 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18971.hp2 NA18980.hp1 NA18983.hp2 NA19004.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19090.hp2 NA20805.hp1 NA20905.hp2	a0002 a0003 a0004 others(29): Show a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0011 a0012 a0016 a0019 a0025 a0028 a0030 a0033 a0035 a0036 a0037 a0038 a0041 a0042 a0044 a0047 a0051 a0052 a0053 a0057 a0061 a0064 a0065 a0070 a0071	a0002c0002 a0002c0003 a0002c0023 others(40): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0003c0007 a0003c0012 a0003c0028 a0003c0080 a0004c0005 a0004c0019 a0004c0038 a0004c0052 a0005c0013 a0007c0008 a0009c0043 a0010c0011 a0010c0072 a0011c0010 a0012c0025 a0016c0031 a0019c0020 a0025c0033 a0028c0027 a0030c0066 a0033c0048 a0035c0057 a0036c0051 a0037c0056 a0038c0037 a0041c0049 a0042c0053 a0044c0055 a0047c0035 a0051c0105 a0052c0067 a0053c0068 a0057c0088 a0061c0092 a0064c0101 a0065c0102 a0070c0074 a0071c0098	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(42): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0003c0007t0002 a0003c0012t0002 a0003c0028t0002 a0003c0080t0002 a0004c0005t0001 a0004c0005t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0005c0013t0001 a0007c0008t0002 a0009c0043t0001 a0010c0011t0001 a0010c0072t0002 a0011c0010t0001 a0012c0025t0002 a0016c0031t0002 a0019c0020t0001 a0025c0033t0001 a0025c0033t0003 a0028c0027t0002 a0030c0066t0001 a0033c0048t0001 a0035c0057t0001 a0036c0051t0001 a0037c0056t0001 a0038c0037t0001 a0041c0049t0001 a0042c0053t0001 a0044c0055t0001 a0047c0035t0001 a0051c0105t0001 a0052c0067t0002 a0053c0068t0002 a0057c0088t0002 a0061c0092t0001 a0064c0101t0002 a0065c0102t0002 a0070c0074t0002 a0071c0098t0002	a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 others(104): Show a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0151 a0002c0023t0001g0204 a0002c0045t0001g0200 a0002c0054t0001g0164 a0003c0007t0002g0056 a0003c0007t0002g0057 a0003c0007t0002g0058 a0003c0007t0002g0059 a0003c0007t0002g0060 a0003c0007t0002g0062 a0003c0012t0002g0001 a0003c0012t0002g0055 a0003c0012t0002g0087 a0003c0028t0002g0002 a0003c0080t0002g0074 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 a0007c0008t0002g0075 a0009c0043t0001g0155 a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0010c0072t0002g0004 a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0012c0025t0002g0007 a0012c0025t0002g0014 a0016c0031t0002g0072 a0019c0020t0001g0149 a0019c0020t0001g0150 a0025c0033t0001g0238 a0025c0033t0003g0237 a0028c0027t0002g0028 a0028c0027t0002g0077 a0030c0066t0001g0231 a0033c0048t0001g0224 a0035c0057t0001g0234 a0036c0051t0001g0180 a0037c0056t0001g0136 a0038c0037t0001g0230 a0041c0049t0001g0176 a0042c0053t0001g0191 a0044c0055t0001g0183 a0047c0035t0001g0161 a0051c0105t0001g0239 a0052c0067t0002g0013 a0053c0068t0002g0012 a0057c0088t0002g0042 a0061c0092t0001g0125 a0064c0101t0002g0022 a0065c0102t0002g0018 a0070c0074t0002g0006 a0071c0098t0002g0023	109	246	0.4431	18	c.711 others(37): Show c.7117+8639_7117+8640insGCACACACAGCACACAGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132831220	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG02280.hp2 others(5): Show HG00280.hp1 HG00733.hp1 HG02280.hp2 HG02572.hp1 HG03453.hp1 NA18940.hp2 NA18980.hp1 NA19060.hp2	a0011 a0019 a0021 others(3): Show a0011 a0019 a0021 a0053 a0059 a0067	a0011c0010 a0019c0020 a0021c0016 others(3): Show a0011c0010 a0019c0020 a0021c0016 a0053c0068 a0059c0082 a0067c0069	a0011c0010t0001 a0019c0020t0001 a0021c0016t0001 others(3): Show a0011c0010t0001 a0019c0020t0001 a0021c0016t0001 a0053c0068t0002 a0059c0082t0002 a0067c0069t0002	a0011c0010t0001g0198 a0011c0010t0001g0208 a0019c0020t0001g0149 others(5): Show a0011c0010t0001g0198 a0011c0010t0001g0208 a0019c0020t0001g0149 a0019c0020t0001g0150 a0021c0016t0001g0170 a0053c0068t0002g0012 a0059c0082t0002g0100 a0067c0069t0002g0015	8	246	0.0325	18	c.711 others(37): Show c.7117+2120_7117+2137dupCACACACACACACACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35923855	A A	ATATATGT others(11): Show ATATATGTACATATATGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0212 a0017c0020t0001g0212	1	216	0.0046	18	c.250 others(35): Show c.250-2157_250-2156insGTACATATATGTGTATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35960380	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA20300.hp2 HG02809.hp1 NA20300.hp2	a0017 a0037 a0017 a0037	a0017c0020 a0037c0057 a0017c0020 a0037c0057	a0017c0020t0001 a0037c0057t0001 a0017c0020t0001 a0037c0057t0001	a0017c0020t0001g0212 a0037c0057t0001g0177 a0017c0020t0001g0212 a0037c0057t0001g0177	2	216	0.0093	18	c.141 others(37): Show c.1410+4194_1410+4211dupAAAAAAAAAAAAAAAAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36148901	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0011 a0011	a0011c0030 a0011c0030	a0011c0030t0001 a0011c0030t0001	a0011c0030t0001g0185 a0011c0030t0001g0185	1	216	0.0046	18	c.567 others(35): Show c.5671-187_5671-170dupGTGTGTGTGTGTGTGTGT	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(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG03195.hp1 others(2): Show HG02622.hp2 HG02818.hp2 HG03195.hp1 HG03209.hp1 NA18906.hp1	a0014 a0016 a0038 others(2): Show a0014 a0016 a0038 a0041 a0053	a0014c0070 a0016c0031 a0038c0042 others(2): Show a0014c0070 a0016c0031 a0038c0042 a0041c0075 a0053c0061	a0014c0070t0001 a0016c0031t0002 a0038c0042t0001 others(2): Show a0014c0070t0001 a0016c0031t0002 a0038c0042t0001 a0041c0075t0001 a0053c0061t0002	a0014c0070t0001g0138 a0016c0031t0002g0202 a0038c0042t0001g0011 others(2): Show a0014c0070t0001g0138 a0016c0031t0002g0202 a0038c0042t0001g0011 a0041c0075t0001g0135 a0053c0061t0002g0214	5	216	0.0232	18	c.733 others(37): Show c.7333-2826_7333-2809dupCACACACACACACACACA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	48/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371681	T T	TATGTGTG others(11): Show TATGTGTGTATGTACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02145.hp1 others(9): Show HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03471.hp1 HG06807.hp2 NA19240.hp1	a0003 a0007 a0022 others(3): Show a0003 a0007 a0022 a0030 a0033 a0050	a0003c0074 a0007c0006 a0007c0077 others(4): Show a0003c0074 a0007c0006 a0007c0077 a0022c0078 a0030c0033 a0033c0036 a0050c0062	a0003c0074t0001 a0007c0006t0001 a0007c0077t0001 others(4): Show a0003c0074t0001 a0007c0006t0001 a0007c0077t0001 a0022c0078t0003 a0030c0033t0001 a0033c0036t0001 a0050c0062t0001	a0003c0074t0001g0139 a0007c0006t0001g0178 a0007c0006t0001g0179 others(9): Show a0003c0074t0001g0139 a0007c0006t0001g0178 a0007c0006t0001g0179 a0007c0006t0001g0180 a0007c0006t0001g0181 a0007c0006t0001g0203 a0007c0006t0001g0206 a0007c0077t0001g0140 a0022c0078t0003g0134 a0030c0033t0001g0016 a0033c0036t0001g0010 a0050c0062t0001g0216	12	216	0.0556	18	c.918 others(37): Show c.9185+4564_9185+4565insGTACACACATGTGTGTAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631024	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0015 a0007c0013t0001g0015	1	316	0.0032	18	c.117 others(37): Show c.1175-1861_1175-1860insGAGAGAGAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	316	0.0032	18	c.117 others(37): Show c.1175-1857_1175-1856insAAGAAAGAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631040	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0119 a0002c0001t0001g0119	1	316	0.0032	18	c.117 others(37): Show c.1175-1847_1175-1846insAAGAAAGAAAGAAAGAAA	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(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0146 a0002c0001t0001g0146	1	316	0.0032	18	c.117 others(37): Show c.1175-1843_1175-1842insAAGAAAGAAAGAAAGAAA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar

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