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
CEP162_chr6_84119250_84232643	84194400	T T	TTTGGCTC others(23): Show TTTGGCTCTAATTTTATAGTTAAACCAAGGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01257.hp2 others(11): Show HG01074.hp2 HG01243.hp2 HG01257.hp2 HG01928.hp2 HG01981.hp2 HG02148.hp1 HG02293.hp2 HG02300.hp2 HG02735.hp1 HG02886.hp1 HG03492.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0003c0021 a0011c0018 a0003c0003 a0003c0021 a0011c0018	a0003c0003t0001 a0003c0003t0003 a0003c0021t0003 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0021t0003 a0011c0018t0003	a0003c0003t0001g0043 a0003c0003t0003g0040 a0003c0003t0003g0041 others(11): Show a0003c0003t0001g0043 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0090 a0003c0003t0003g0091 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0021t0003g0049 a0011c0018t0003g0039	14	214	0.0654	30	c.102 others(47): Show c.1027+454_1027+483dupCCCTTGGTTTAACTATAAAATTAGAGCC AA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	10/26			chr6	TogoVar
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03710.hp1 NA18956.hp1 HG00597.hp2 HG03710.hp1 NA18956.hp1	a0006 a0010 a0006 a0010	a0006c0007 a0010c0012 a0006c0007 a0010c0012	a0006c0007t0006 a0010c0012t0006 a0006c0007t0006 a0010c0012t0006	a0006c0007t0006g0265 a0006c0007t0006g0270 a0010c0012t0006g0266 a0006c0007t0006g0265 a0006c0007t0006g0270 a0010c0012t0006g0266	3	390	0.0077	30	c.-21 others(47): Show c.-21-1042_-21-1041insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP170_chr1_243119428_243260281	243159763	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp1 HG02155.hp1 others(2): Show HG00597.hp2 HG01099.hp1 HG02155.hp1 HG03225.hp1 NA19012.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0017 a0001c0001 a0009c0017	a0001c0001t0001 a0001c0001t0009 a0009c0017t0007 a0001c0001t0001 a0001c0001t0009 a0009c0017t0007	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0009g0057 a0009c0017t0007g0037	5	303	0.0165	30	c.367 others(49): Show c.3677-3338_3677-3309dupCACACACACACACACACACACACACA CACA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243226187	A A	ATATATAC others(23): Show ATATATACCTATATATCTAGATATATATGCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	303	0.0033	30	c.-41 others(45): Show c.-41-867_-41-866insGGCATATATATCTAGATATATAGGTATATA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01256.hp2 others(4): Show HG00735.hp2 HG00738.hp1 HG01256.hp2 HG02257.hp1 HG02630.hp1 NA19012.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0002 a0001c0001t0002 a0005c0006t0002	a0001c0001t0002g0002 a0001c0001t0002g0059 a0001c0001t0002g0086 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0059 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0112 a0005c0006t0002g0124	7	430	0.0163	30	c.-10 others(41): Show c.-1057_-1056insCACACACACACACACACACACACACACACA	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		891		chr17	TogoVar
CEP43_chr6_166994397_167057718	167042814	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0184 a0001c0001t0184	a0001c0001t0184g0004 a0001c0001t0184g0004	1	376	0.0027	30	c.28 others(41): Show c.2861_*2862insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	13/13	2862	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP44_chr4_174278911_174325328	174320698	G G	GTGTGTGT others(23): Show GTGTGTGTGTATGTGTGTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(121): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01358.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18954.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19059.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0026 a0001c0001t0031 a0002c0008t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0008g0021 a0001c0001t0008g0106 a0001c0001t0008g0112 a0001c0001t0008g0114 a0001c0001t0014g0025 a0001c0001t0014g0064 a0001c0001t0016g0025 a0001c0001t0016g0158 a0001c0001t0026g0126 a0001c0001t0031g0003 a0002c0008t0004g0063	124	388	0.3196	30	c.33 others(41): Show c.3315_*3316insTGTGTGTGTATGTGTGTGTGTGTGTGTGTA	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding		371		chr4	TogoVar
CEP63_chr3_134481057_134570031	134538529	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0291 a0002c0002t0001g0291	1	322	0.0031	30	c.555 others(47): Show c.555+1264_555+1265insATATATATATATATATATATATATATAT GT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18998.hp1 NA18950.hp2 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0233 a0002c0002t0001g0234	2	322	0.0062	30	c.555 others(47): Show c.555+1264_555+1265insATATATATATATATATATATATATATGT AT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP85L_chr6_118455772_118656591	118496356	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03209.hp1 HG03225.hp2 others(1): Show HG01175.hp1 HG03209.hp1 HG03225.hp2 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0240 a0002c0002t0002g0258 others(1): Show a0002c0002t0002g0197 a0002c0002t0002g0240 a0002c0002t0002g0258 a0002c0002t0002g0278	4	302	0.0133	30	c.125 others(49): Show c.1258-4521_1258-4492dupTAAAATAAAATAAAATAAAATAAAAT AAAA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	5/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(23): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0205 a0002c0002t0002g0205	1	302	0.0033	30	c.232 others(49): Show c.232+32152_232+32153insACCCCCCCCCCCCCCCCCCCCCCCCC CCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	342	0.0029	30	c.208 others(47): Show c.208+4426_208+4427insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02074.hp1 HG02083.hp2 others(2): Show HG00438.hp2 HG02074.hp1 HG02083.hp2 HG02922.hp1 NA18991.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0004 a0002c0004t0004 a0002c0003t0001 a0002c0003t0004 a0002c0004t0004	a0002c0003t0001g0134 a0002c0003t0004g0118 a0002c0004t0004g0201 others(2): Show a0002c0003t0001g0134 a0002c0003t0004g0118 a0002c0004t0004g0201 a0002c0004t0004g0260 a0002c0004t0004g0264	5	298	0.0168	30	c.239 others(47): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02965.hp2 HG01361.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0004 a0001c0001t0002 a0001c0008t0004	a0001c0001t0002g0355 a0001c0008t0004g0357 a0001c0001t0002g0355 a0001c0008t0004g0357	2	418	0.0048	30	c.-1- others(47): Show c.-1-19203_-1-19202insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8266863	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02074.hp1 HG01978.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0289 a0001c0001t0002g0139 a0001c0001t0002g0289	2	418	0.0048	30	c.47 others(41): Show c.4754_*4755insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4443		chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0086 a0001c0002t0005g0086	1	418	0.0024	30	c.51 others(41): Show c.5185_*5186insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS5_chr12_50124289_50172369	50156420	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0094 a0001c0001t0004g0095	2	320	0.0063	30	c.197 others(49): Show c.197+10680_197+10681insTATATATATATATATATATATATATA TATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50156437	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0080 a0002c0003t0003g0080	1	320	0.0031	30	c.197 others(49): Show c.197+10663_197+10664insTTATATATATATATATATATATATAT ATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168486518	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18945.hp1 HG02523.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0153 a0001c0001t0002g0151 a0001c0001t0001g0153 a0001c0001t0002g0151	2	176	0.0114	30	c.170 others(49): Show c.170+29900_170+29901insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp1 HG03704.hp2 others(1): Show HG00558.hp2 HG01099.hp1 HG03704.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016	a0001c0001t0004g0155 a0001c0001t0005g0093 a0001c0001t0005g0117 others(1): Show a0001c0001t0004g0155 a0001c0001t0005g0093 a0001c0001t0005g0117 a0001c0001t0016g0066	4	176	0.0227	30	c.277 others(47): Show c.277-1459_277-1458insTATATATATATATATATATATATATATA TA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168631607	A A	ATATATTT others(23): Show ATATATTTAATATTTATATATTAAATATAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00609.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0159 a0001c0001t0001g0160	2	176	0.0114	30	c.465 others(45): Show c.465+565_465+566insTATATTTAATATTTATATATTAAATATAAT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9			chr2	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02572.hp1 HG03654.hp1 HG01257.hp1 HG02572.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0001 a0001c0001t0002 a0001c0001t0017	a0001c0001t0001g0317 a0001c0001t0002g0194 a0001c0001t0017g0253 a0001c0001t0001g0317 a0001c0001t0002g0194 a0001c0001t0017g0253	3	336	0.0089	30	c.118 others(49): Show c.1189-3916_1189-3915insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CETN1_chr18_575380_587114	576446	G G	GGAAGGAA others(23): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA18995.hp2 NA19077.hp1 others(1): Show HG00408.hp2 NA18995.hp2 NA19077.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0002g0000 a0001c0001t0006g0000	4	422	0.0095	30	c.-39 others(41): Show c.-3963_-3962insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3933		chr18	TogoVar
CFAP141_chr1_154194085_154211333	154203172	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	372	0.0027	30	c.74+ others(45): Show c.74+2396_74+2425dupATATATATATATATATATATATATATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP206_chr6_87402972_87469465	87447951	T T	TTTATTAT others(23): Show TTTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18960.hp2 NA18957.hp1 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	2	376	0.0053	30	c.149 others(51): Show c.1494+12916_1494+12917insTTATTATTATTATTATTATTATTA TTATTA	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP210_chr2_169640425_169699405	169653029	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATAAAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	390	0.0026	30	c.959 others(47): Show c.959+1045_959+1046insATTTATATATATATTTTTTTTTTTTTTT TT	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP251_chr12_121913592_122008919	121928625	T T	TGTATATA others(23): Show TGTATATATATACGTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02738.hp1 HG00140.hp2 HG02738.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0047 a0004c0002t0001g0053 a0004c0002t0001g0047 a0004c0002t0001g0053	2	354	0.0057	30	c.748 others(47): Show c.748-3092_748-3091insCGTATATATATACGTATATATATATATA TA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121978393	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0058 a0003c0009t0001g0058	1	354	0.0028	30	c.300 others(49): Show c.3006+2736_3006+2737insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP276_chr1_109100951_109117747	109113451	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA19009.hp2 HG02027.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0011 a0001c0001t0001g0032	2	404	0.0050	30	c.-77 others(39): Show c.-773_-772insACTCCCTCTCTCTCTCTCTCTCTCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		705		chr1	TogoVar
CFAP298_chr21_32594354_32617377	32611318	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03490.hp2 HG01099.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0008 a0001c0001t0017	a0001c0001t0008g0078 a0001c0001t0017g0079 a0001c0001t0008g0078 a0001c0001t0017g0079	2	416	0.0048	30	c.139 others(45): Show c.139+786_139+787insATATATATATATATATATATATATATATAT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP298_chr21_32594354_32617377	32611338	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03453.hp1 HG02818.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0200 a0001c0001t0015g0189 a0001c0001t0001g0200 a0001c0001t0015g0189	2	416	0.0048	30	c.139 others(45): Show c.139+766_139+767insTTATATATATATATATATATATATATATAT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02615.hp2 HG02895.hp2 others(11): Show HG00408.hp2 HG02615.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 NA18906.hp1 NA18998.hp2 NA19005.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 a0002c0006t0001 a0002c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0031 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0002g0030 a0001c0004t0001g0065 a0001c0004t0001g0066 a0002c0002t0001g0001 a0002c0002t0001g0067 a0002c0006t0001g0034 a0002c0007t0001g0047	14	96	0.1458	30	c.242 others(47): Show c.242+1234_242+1235insCACACACACACACACACACACACACACA CA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(23): Show AACACACACACCCACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0082 a0002c0006t0001g0082	1	96	0.0104	30	c.242 others(47): Show c.242+1215_242+1216insCCACACACACACACACACACACACACAC AC	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(23): Show AACACACACACCCACACCCACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0092 a0001c0003t0002g0092	1	96	0.0104	30	c.242 others(47): Show c.242+1215_242+1216insCCACACCCACACACACACACACACACAC AC	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80581464	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0092 a0001c0003t0002g0092	1	96	0.0104	30	c.243 others(47): Show c.243-1604_243-1603insATATGTATATATATATATATATATATAT AT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334518	C C	CCCCCCCT others(23): Show CCCCCCCTCAACCTCTGGGCGGGCACGCGCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG02040.hp1 others(5): Show HG00323.hp2 HG01070.hp1 HG02040.hp1 HG02683.hp1 HG03831.hp1 HG03834.hp2 NA19088.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0003 a0001c0001 a0001c0002 a0003c0003	a0001c0001t0001 a0001c0002t0002 a0003c0003t0002 a0001c0001t0001 a0001c0002t0002 a0003c0003t0002	a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0163 others(4): Show a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0163 a0001c0001t0001g0195 a0001c0002t0002g0230 a0003c0003t0002g0047 a0003c0003t0002g0281	8	436	0.0184	30	c.143 others(47): Show c.143+1239_143+1240insTGCGCGTGCCCGCCCAGAGGTTGAGGGG GG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP46_chr10_132803392_132947570	132813508	T T	TCCCTGCA others(23): Show TCCCTGCACACACCTGCCCCTGCAGCCCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(27): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG01099.hp2 HG01346.hp1 HG01517.hp2 HG01952.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02602.hp2 HG02683.hp2 HG02717.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp2 HG03710.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18940.hp2 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA20300.hp1	a0000 a0004 a0008 others(9): Show a0000 a0004 a0008 a0009 a0010 a0011 a0015 a0019 a0029 a0041 a0057 a0062	a0000c0087 a0004c0005 a0008c0009 others(9): Show a0000c0087 a0004c0005 a0008c0009 a0009c0018 a0010c0072 a0011c0010 a0015c0015 a0019c0020 a0029c0100 a0041c0049 a0057c0088 a0062c0093	a0000c0087t0002 a0004c0005t0001 a0004c0005t0002 others(11): Show a0000c0087t0002 a0004c0005t0001 a0004c0005t0002 a0008c0009t0001 a0008c0009t0002 a0009c0018t0001 a0010c0072t0002 a0011c0010t0001 a0015c0015t0002 a0019c0020t0001 a0029c0100t0002 a0041c0049t0001 a0057c0088t0002 a0062c0093t0001	a0000c0087t0002g0112 a0004c0005t0001g0220 a0004c0005t0001g0221 others(27): Show a0000c0087t0002g0112 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0008c0009t0001g0120 a0008c0009t0001g0122 a0008c0009t0001g0123 a0008c0009t0001g0124 a0008c0009t0002g0101 a0009c0018t0001g0172 a0009c0018t0001g0228 a0010c0072t0002g0004 a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0015c0015t0002g0044 a0015c0015t0002g0061 a0015c0015t0002g0063 a0019c0020t0001g0149 a0019c0020t0001g0150 a0029c0100t0002g0019 a0041c0049t0001g0176 a0057c0088t0002g0042 a0062c0093t0001g0121	30	246	0.1220	30	c.738 others(47): Show c.7389-612_7389-611insGTGGGGCTGCAGGGGCAGGTGTGTGCAG GG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132813508	T T	TCCCTGCA others(23): Show TCCCTGCACACACCTGCCCCTGCAGCCCCGC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02698.hp1 HG02074.hp1 HG02698.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0050 a0007c0008t0002g0095 a0007c0008t0002g0050 a0007c0008t0002g0095	2	246	0.0081	30	c.738 others(47): Show c.7388+614_7389-612dupGCGGGGCTGCAGGGGCAGGTGTGTGCAG GG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132813657	G G	GCCCCTGC others(23): Show GCCCCTGCACACACCTGCCCCTGCAGCCCCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02486.hp1 HG01261.hp1 HG02486.hp1	a0008 a0009 a0008 a0009	a0008c0097 a0009c0043 a0008c0097 a0009c0043	a0008c0097t0001 a0009c0043t0001 a0008c0097t0001 a0009c0043t0001	a0008c0097t0001g0118 a0009c0043t0001g0155 a0008c0097t0001g0118 a0009c0043t0001g0155	2	246	0.0081	30	c.738 others(47): Show c.7388+494_7388+495insTGGGGCTGCAGGGGCAGGTGTGTGCAGG GG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132813687	G G	GCCCCTGC others(23): Show GCCCCTGCACACACCTGCCCCTGCAGCCCCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA20129.hp2 HG00438.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0047 a0001c0001 a0005c0047	a0001c0001t0002 a0005c0047t0001 a0001c0001t0002 a0005c0047t0001	a0001c0001t0002g0047 a0005c0047t0001g0216 a0001c0001t0002g0047 a0005c0047t0001g0216	2	246	0.0081	30	c.738 others(47): Show c.7388+464_7388+465insTGGGGCTGCAGGGGCAGGTGTGTGCAGG GG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888364	A A	ACCCCGCC others(23): Show ACCCCGCCACCTTCACCCCTGCCGCCTGCAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0070 a0070	a0070c0074 a0070c0074	a0070c0074t0002 a0070c0074t0002	a0070c0074t0002g0006 a0070c0074t0002g0006	1	246	0.0041	30	c.330 others(49): Show c.3305-2406_3305-2405insGTGCAGGCGGCAGGGGTGAAGGTGGC GGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888375	T T	TCACCCCT others(23): Show TCACCCCTGCCACCTTCACCCCTGCCGCCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0066 a0066	a0066c0077 a0066c0077	a0066c0077t0001 a0066c0077t0001	a0066c0077t0001g0127 a0066c0077t0001g0127	1	246	0.0041	30	c.330 others(49): Show c.3305-2417_3305-2416insCAGGCGGCAGGGGTGAAGGTGGCAGG GGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888564	G G	GCACCCCT others(23): Show GCACCCCTGCCGCCTGCACCCCTGCCGCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00597.hp1 others(40): Show HG00140.hp1 HG00140.hp2 HG00597.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02451.hp2 HG02647.hp2 HG03239.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18940.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18952.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18980.hp2 NA19004.hp1 NA19007.hp1 NA19067.hp2 NA20129.hp2 NA20805.hp2	a0001 a0005 a0006 others(11): Show a0001 a0005 a0006 a0007 a0020 a0039 a0050 a0054 a0055 a0056 a0057 a0058 a0060 a0073	a0001c0001 a0001c0029 a0001c0096 others(14): Show a0001c0001 a0001c0029 a0001c0096 a0005c0039 a0005c0047 a0006c0004 a0007c0008 a0020c0017 a0039c0046 a0050c0104 a0054c0091 a0055c0086 a0056c0089 a0057c0088 a0058c0090 a0060c0084 a0073c0108	a0001c0001t0002 a0001c0029t0002 a0001c0096t0002 others(14): Show a0001c0001t0002 a0001c0029t0002 a0001c0096t0002 a0005c0039t0001 a0005c0047t0001 a0006c0004t0002 a0007c0008t0002 a0020c0017t0001 a0039c0046t0001 a0050c0104t0001 a0054c0091t0002 a0055c0086t0002 a0056c0089t0001 a0057c0088t0002 a0058c0090t0002 a0060c0084t0002 a0073c0108t0002	a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0036 others(40): Show a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0115 a0001c0029t0002g0009 a0001c0029t0002g0010 a0001c0096t0002g0035 a0005c0039t0001g0165 a0005c0047t0001g0216 a0006c0004t0002g0109 a0006c0004t0002g0110 a0006c0004t0002g0116 a0007c0008t0002g0025 a0007c0008t0002g0050 a0007c0008t0002g0069 a0007c0008t0002g0075 a0020c0017t0001g0147 a0020c0017t0001g0148 a0039c0046t0001g0144 a0050c0104t0001g0236 a0054c0091t0002g0026 a0055c0086t0002g0020 a0056c0089t0001g0117 a0057c0088t0002g0042 a0058c0090t0002g0043 a0060c0084t0002g0053 a0073c0108t0002g0094	43	246	0.1748	30	c.330 others(49): Show c.3305-2606_3305-2605insAAGGCGGCAGGGGTGCAGGCGGCAGG GGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888667	T T	TCACCCCT others(23): Show TCACCCCTGCCGCCTTCACCCCTGCCGCCTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0070 a0070	a0070c0074 a0070c0074	a0070c0074t0002 a0070c0074t0002	a0070c0074t0002g0006 a0070c0074t0002g0006	1	246	0.0041	30	c.330 others(49): Show c.3305-2709_3305-2708insCAGGCGGCAGGGGTGAAGGCGGCAGG GGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132931826	C C	CCTCCCCA others(23): Show CCTCCCCACACAGAGCCTGGGCCTCCTTACA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0052 a0052	a0052c0067 a0052c0067	a0052c0067t0002 a0052c0067t0002	a0052c0067t0002g0013 a0052c0067t0002g0013	1	246	0.0041	30	c.867 others(47): Show c.867-2023_867-2022insTGTAAGGAGGCCCAGGCTCTGTGTGGGG AG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132931827	T T	TTCCCCAC others(23): Show TTCCCCACACAGAGCCTGGGCCTCCTTACAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0053 a0053	a0053c0068 a0053c0068	a0053c0068t0002 a0053c0068t0002	a0053c0068t0002g0012 a0053c0068t0002g0012	1	246	0.0041	30	c.867 others(47): Show c.867-2053_867-2024dupGTGTAAGGAGGCCCAGGCTCTGTGTGGG GA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35923866	C C	CATATATG others(23): Show CATATATGTATATATGTACATATATATGTGT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0124 a0001c0019t0001g0124	1	216	0.0046	30	c.250 others(47): Show c.250-2141_250-2112dupTATATGTACATATATATGTGTATATATG TA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35924298	C C	CATATGTG others(23): Show CATATGTGCACATATGTGTATAGGTGTACAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp1 HG02886.hp2 HG03041.hp1	a0011 a0014 a0011 a0014	a0011c0054 a0014c0016 a0011c0054 a0014c0016	a0011c0054t0001 a0014c0016t0001 a0011c0054t0001 a0014c0016t0001	a0011c0054t0001g0201 a0014c0016t0001g0193 a0011c0054t0001g0201 a0014c0016t0001g0193	2	216	0.0093	30	c.250 others(47): Show c.250-1718_250-1717insTATGTGCACATATGTGTATAGGTGTACA TA	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(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0002 a0018c0022t0001g0002	1	216	0.0046	30	c.141 others(49): Show c.1410+4211_1410+4212insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371700	A A	ATGTGTAT others(23): Show ATGTGTATATATGTGTGTATATACACACATG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0001 a0013c0011t0001	a0013c0011t0001g0167 a0013c0011t0001g0167	1	216	0.0046	30	c.918 others(49): Show c.9185+4614_9185+4643dupTGTGTGTATATACACACATGTGTGTA TATA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar

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