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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CERS3_chr15_100395395_100533950	100478550	G G	GGGAACAC others(27): Show GGGAACACAAAAACACAACATGGGTTGTGTTATGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp2 HG03209.hp2 others(1): Show HG02280.hp2 HG02976.hp2 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0179 a0001c0001t0002g0239 others(1): Show a0001c0001t0002g0111 a0001c0001t0002g0179 a0001c0001t0002g0239 a0001c0001t0002g0253	4	362	0.0111	34	c.516 others(49): Show c.516+877_516+878insTCATAACACAACCCATGTTGTGTTTTTGTG TTCC		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	7/11						chr15	TogoVar
CERS5_chr12_50124289_50172369	50156420	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp2 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0085 a0001c0001t0001g0013 a0001c0001t0001g0085	2	320	0.0063	34	c.197 others(53): Show c.197+10680_197+10681insTATATATATATATATATATATATATA TATATATA		CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9						chr12	TogoVar
CERS5_chr12_50124289_50172369	50156437	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00323.hp1 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0048 a0002c0003t0003g0049 a0002c0003t0003g0048 a0002c0003t0003g0049	2	320	0.0063	34	c.197 others(53): Show c.197+10663_197+10664insTTATATATATATATATATATATATAT ATATATAT		CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9						chr12	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02071.hp1 HG02129.hp2 others(6): Show HG01256.hp2 HG02071.hp1 HG02129.hp2 HG02615.hp2 HG02622.hp2 HG02896.hp1 HG03098.hp1 HG03453.hp2 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0033 a0004c0003t0008	a0001c0001t0001g0037 a0001c0001t0001g0143 a0001c0001t0006g0169 others(6): Show a0001c0001t0001g0037 a0001c0001t0001g0143 a0001c0001t0006g0169 a0001c0001t0007g0121 a0001c0001t0010g0015 a0001c0001t0010g0167 a0001c0001t0011g0082 a0001c0001t0033g0038 a0004c0003t0008g0106	9	176	0.0511	34	c.277 others(51): Show c.277-1459_277-1458insTATATATATATATATATATATATATATA TATATA		CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9						chr2	TogoVar
CERS6_chr2_168451272_168780134	168645138	T T	TATATATA others(27): Show TATATATATATATATAATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	176	0.0057	34	c.465 others(53): Show c.465+14101_465+14102insTATATATATAATATATATATATATAT ATAATATA		CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18988.hp1 NA18947.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0205 a0001c0001t0007g0173 a0001c0001t0002g0205 a0001c0001t0007g0173	2	336	0.0060	34	c.118 others(53): Show c.1189-3916_1189-3915insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16						chr5	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(27): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0365 a0007c0020t0001g0365	1	449	0.0022	34	c.112 others(53): Show c.1126-1504_1126-1503insAAAAAAGAAAAAAAAAAAAGAAAGAA AACAGAAA		CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12						chr16	TogoVar
CETN1_chr18_575380_587114	581146	A A	AACAAAGG others(27): Show AACAAAGGGCCCTGAAGTTTGAGTGCGCCCTCCAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0000 a0001c0001t0026g0000	1	422	0.0024	34	c.22 others(43): Show c.220_*253dupACAAAGGGCCCTGAAGTTTGAGTGCGCCCTCCAT		CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding	1/1				254	INFO_REALIGN_3_PRIME	chr18	TogoVar
CFAP157_chr9_127701988_127721002	127720881	T T	TCCCCTTT others(27): Show TCCCCTTTCTCCCTCCCCCTTCCCCTTTCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 NA19079.hp2 HG02165.hp1 NA19079.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0018 a0003c0004t0001g0019 a0003c0004t0001g0018 a0003c0004t0001g0019	2	354	0.0057	34	c.69 others(45): Show c.6976_*6977insCCCCTTTCTCCCTCCCCCTTCCCCTTTCTCCCTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4880		chr9	TogoVar
CFAP276_chr1_109100951_109117747	109113451	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	404	0.0025	34	c.-77 others(43): Show c.-773_-772insACTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTC		CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding					705		chr1	TogoVar
CFAP298_chr21_32594354_32617377	32601006	T T	TGGCTACA others(27): Show TGGCTACAGTTAGACCCCGCAGCAGGGTTAAAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0059 a0001c0001t0038g0059	1	416	0.0024	34	c.82 others(43): Show c.823_*856dupTTCTTTAACCCTGCTGCGGGGTCTAACTGTAGCC		CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	7/7				856		chr21	TogoVar
CFAP298_chr21_32594354_32617377	32611338	T T	TATATATA others(27): Show TATATATATATATATATATATATATATAAATATAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0196 a0001c0001t0008g0196	1	416	0.0024	34	c.139 others(49): Show c.139+766_139+767insTTATATTTATATATATATATATATATATAT ATAT		CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6						chr21	TogoVar
CFAP298_chr21_32594354_32617377	32611338	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	416	0.0024	34	c.139 others(49): Show c.139+766_139+767insTTATATATATATATATATATATATATATAT ATAT		CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6						chr21	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(27): Show AACACACACACCCACACCCACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0089 a0001c0003t0001g0089	1	96	0.0104	34	c.242 others(51): Show c.242+1215_242+1216insCCACACCCACACACACACACACACACAC ACACAC		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80390724	C C	CATGTATA others(27): Show CATGTATATATGTATATATGTATATATACACACAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	96	0.0104	34	c.242 others(53): Show c.242+27859_242+27892dupGTATATATACACACATATGTATATAT GTATATAT		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80390724	C C	CATGTATA others(27): Show CATGTATATATGTATATATGTATATATACACATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	96	0.0104	34	c.242 others(53): Show c.242+27871_242+27872insTATATGTATATATGTATATATGTATA TATACACA		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80505473	A A	AGAGACTA others(27): Show AGAGACTAAGAATGATACAGTAAAATTCTTATAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(57): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01168.hp2 HG01243.hp1 HG02040.hp1 HG02071.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18950.hp2 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18983.hp2 NA18984.hp1 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19060.hp1 NA19085.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0002c0002 a0002c0005 a0002c0007 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0009t0002 a0002c0002t0001 a0002c0005t0001 a0002c0007t0001 a0003c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(57): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0096 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0003t0001g0038 a0001c0003t0002g0084 a0001c0003t0002g0090 a0001c0004t0001g0022 a0001c0004t0001g0050 a0001c0004t0001g0061 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0009t0002g0015 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0045 a0002c0002t0001g0067 a0002c0005t0001g0058 a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 a0002c0007t0001g0047 a0003c0008t0001g0085	60	96	0.6250	34	c.243 others(53): Show c.243-77620_243-77619insGAGACTAAGAATGATACAGTAAAATT CTTATAAG		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5						chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799173	T T	TATATTAT others(27): Show TATATTATATAAATATATTTATATAATATATATAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp2 HG02965.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0002 a0002c0006t0001 a0001c0003t0002 a0002c0006t0001	a0001c0003t0002g0092 a0002c0006t0001g0088 a0001c0003t0002g0092 a0002c0006t0001g0088	2	96	0.0208	34	c.334 others(53): Show c.334-70815_334-70814insATATAAATATATTTATATAATATATA TAAATATT		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44330246	G G	GCTGCCCA others(27): Show GCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCT	frameshift_variant frameshift_variant	HIGH	HG02647.hp1 HG02647.hp1	a0000 a0000	a0000c0018 a0000c0018	a0000c0018t0001 a0000c0018t0001	a0000c0018t0001g0152 a0000c0018t0001g0152	1	436	0.0023	34	c.689 others(41): Show c.689_722dupAGGGGCTGGAGGCCGTGCAGCAGACTGTGGGCAG	p.Ser others(5): Show p.Ser241fs	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	7/7	918/2221	722/771	241/256			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(27): Show ACCCCCCCCTCAACCTCTGGGCGGGCACGCGCACC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19081.hp1 NA18967.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0101 a0002c0004t0002g0250 a0001c0001t0001g0101 a0002c0004t0002g0250	2	436	0.0046	34	c.143 others(51): Show c.143+1240_143+1241insGGTGCGCGTGCCCGCCCAGAGGTTGAGG GGGGGG		CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6						chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(27): Show ACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01169.hp2 others(20): Show HG00733.hp1 HG01106.hp2 HG01169.hp2 HG01978.hp2 HG01993.hp2 HG02280.hp2 HG02451.hp2 HG02965.hp2 HG03017.hp1 HG03490.hp2 HG03491.hp1 HG04115.hp2 NA18906.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA19090.hp1 NA19091.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0003c0003 a0008c0015	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0002t0030 a0002c0004t0002 a0003c0003t0002 a0008c0015t0001	a0001c0001t0001g0005 a0001c0001t0001g0068 a0001c0001t0001g0077 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0147 a0001c0001t0001g0189 a0001c0001t0005g0208 a0001c0002t0002g0256 a0001c0002t0002g0271 a0001c0002t0002g0293 a0001c0002t0030g0277 a0002c0004t0002g0041 a0002c0004t0002g0245 a0003c0003t0002g0236 a0003c0003t0002g0255 a0003c0003t0002g0288 a0008c0015t0001g0064	23	436	0.0528	34	c.143 others(51): Show c.143+1240_143+1241insGGGTGCGCGTGCCCGCCCAGAGGTTGAG GGGGGG		CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6						chr21	TogoVar
CFAP46_chr10_132803392_132947570	132936549	C C	CAAACACA others(27): Show CAAACACACCATGATCTCCTCACTCCCCTTGGCAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0052 a0052	a0052c0067 a0052c0067	a0052c0067t0002 a0052c0067t0002	a0052c0067t0002g0013 a0052c0067t0002g0013	1	246	0.0041	34	c.755 others(49): Show c.755+411_755+412insATGCCAAGGGGAGTGAGGAGATCATGGTGT GTTT		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57						chr10	TogoVar
CFAP47_chrX_35914734_36390317	35924364	T T	TGTATAGG others(27): Show TGTATAGGTGTAGATATATGTGTACATATGTGCAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0049 a0049	a0049c0058 a0049c0058	a0049c0058t0001 a0049c0058t0001	a0049c0058t0001g0207 a0049c0058t0001g0207	1	216	0.0046	34	c.250 others(51): Show c.250-1653_250-1652insGTATAGGTGTAGATATATGTGTACATAT GTGCAC		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63						chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371739	T T	TGTGTGTA others(27): Show TGTGTGTATATACACACATGTGTGTATATACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp1 homoSapiens_chm13v2.hp1 HG00140.hp1 HG01074.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0119 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0119	3	216	0.0139	34	c.918 others(53): Show c.9185+4612_9185+4613insGTGTGTATATACACACATGTGTGTAT ATACACAC		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63						chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371804	A A	ATGTGTGT others(27): Show ATGTGTGTATATACGTGTGCATATACACACATGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0197 a0010c0007t0001g0197	1	216	0.0046	34	c.918 others(53): Show c.9185+4680_9185+4681insGTGTATATACGTGTGCATATACACAC ATGTGTGT		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371924	G G	GTGTATAT others(27): Show GTGTATATATACACACATGTGTATATGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0211 a0017c0020t0001g0211	1	216	0.0046	34	c.918 others(53): Show c.9185+4798_9185+4799insGTATATATACACACATGTGTATATGT GTGTGTAT		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	316	0.0032	34	c.117 others(53): Show c.1175-1833_1175-1832insGAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0086 a0002c0001t0001g0086	1	316	0.0032	34	c.117 others(53): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19060.hp2 NA18951.hp1 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0239 a0001c0002t0001g0157 a0001c0002t0001g0239	2	316	0.0063	34	c.117 others(53): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAAAGA AAGAAAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18949.hp1 NA18522.hp2 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0298 a0001c0002t0001g0209 a0001c0002t0001g0298	2	316	0.0063	34	c.117 others(53): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA AAGAAAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	402	0.0025	34	c.131 others(53): Show c.1316+1273_1316+1274insATATATATATATATATATATATATAT ATTTTTTT		CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7						chr18	TogoVar
CFAP57_chr1_43167330_43259358	43180223	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0071 a0002c0005t0001g0071	1	308	0.0033	34	c.158 others(51): Show c.158-1295_158-1294insTATATATATATATATATATATATATATA TATATA		CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP57_chr1_43167330_43259358	43180238	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0024 a0002c0012t0001g0024	1	308	0.0033	34	c.158 others(51): Show c.158-1295_158-1294insTATATATATATATATATATATATATATA TATAAA		CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP61_chr20_20047532_20365698	20357197	G G	GGGGAGGT others(27): Show GGGGAGGTGGTCACACTGAGGGGAAGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp1 HG02630.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0022 a0001c0012 a0002c0022	a0001c0012t0002 a0002c0022t0002 a0001c0012t0002 a0002c0022t0002	a0001c0012t0002g0172 a0002c0022t0002g0049 a0001c0012t0002g0172 a0002c0022t0002g0049	2	236	0.0085	34	c.351 others(53): Show c.3514-3013_3514-3012insGGGAGGTGGTCACACTGAGGGGAAGT GGTCACAC		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26						chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357536	G G	GGGGAGGT others(27): Show GGGGAGGTGGTCACACTGAGGGGAAGTGGTCACAC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	236	0.0042	34	c.351 others(53): Show c.3514-2674_3514-2673insGGGAGGTGGTCACACTGAGGGGAAGT GGTCACAC		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26						chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357536	G G	GGGGAGGT others(27): Show GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18969.hp1 NA19090.hp1 NA18955.hp1 NA18969.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0004g0012 a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0004g0012	3	236	0.0127	34	c.351 others(53): Show c.3514-2674_3514-2673insGGGAGGTGGTCACACTGAGGGGAGGT GGTCACAC		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26						chr20	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATAT others(27): Show ATATATATATATATATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02698.hp2 NA18948.hp2 others(1): Show HG02015.hp1 HG02698.hp2 NA18948.hp2 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0002c0003t0001g0001 a0001c0001t0001g0001 a0002c0003t0001g0001	4	392	0.0102	34	c.28 others(45): Show c.2882_*2883insTATATATATATATATGTATGTATGTATATGTATG		CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding					788		chr11	TogoVar
CFAP70_chr10_73248762_73363864	73362980	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0003 a0003c0003t0002g0010 a0003c0003t0002g0012 a0003c0003t0002g0003 a0003c0003t0002g0010 a0003c0003t0002g0012	3	220	0.0136	34	c.-42 others(45): Show c.-4243_-4242insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding					4117		chr10	TogoVar
CFAP74_chr1_1916957_2008786	1928141	A A	AGGGCAAA others(27): Show AGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0045 a0045	a0045c0052 a0045c0052	a0045c0052t0002 a0045c0052t0002	a0045c0052t0002g0118 a0045c0052t0002g0118	1	278	0.0036	34	c.338 others(51): Show c.3388-429_3388-396dupCTTCCCGGCCTGGCTTCCTCCCAAGGGT TTGCCC		CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38						chr1	TogoVar
CFAP74_chr1_1916957_2008786	1928252	T T	TGGGAGGA others(27): Show TGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCGTG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0002 a0023c0035t0002	a0023c0035t0002g0147 a0023c0035t0002g0147	1	278	0.0036	34	c.338 others(51): Show c.3388-507_3388-506insCACGGGTTTGCCCTTCCCGGCCTGGCTT CCTCCC		CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38						chr1	TogoVar
CFAP74_chr1_1916957_2008786	1928256	A A	AGGAAGCC others(27): Show AGGAAGCCAGGCCGGGAAGGGCAAACCCGTGGGAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0036 a0036	a0036c0054 a0036c0054	a0036c0054t0002 a0036c0054t0002	a0036c0054t0002g0068 a0036c0054t0002g0068	1	278	0.0036	34	c.338 others(51): Show c.3388-511_3388-510insCTCCCACGGGTTTGCCCTTCCCGGCCTG GCTTCC		CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38						chr1	TogoVar
CFAP74_chr1_1916957_2008786	1934260	C C	CTGTAGGT others(27): Show CTGTAGGTACACAGGTGTATACGTGGGTGTTAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(147): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(31): Show a0001 a0002 a0008 a0010 a0012 a0013 a0015 a0016 a0017 a0019 a0020 a0021 a0023 a0029 a0030 a0033 a0034 a0036 a0037 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0053 a0054 a0055 a0056 a0057 a0062 a0065 a0066	a0001c0001 a0001c0006 a0001c0020 others(50): Show a0001c0001 a0001c0006 a0001c0020 a0001c0022 a0001c0055 a0001c0081 a0002c0004 a0002c0005 a0002c0008 a0002c0047 a0002c0056 a0002c0057 a0002c0074 a0002c0076 a0002c0084 a0002c0089 a0008c0009 a0008c0073 a0010c0025 a0010c0067 a0010c0069 a0012c0014 a0013c0018 a0015c0017 a0016c0024 a0016c0061 a0017c0030 a0017c0096 a0019c0026 a0020c0028 a0021c0033 a0023c0035 a0029c0075 a0030c0043 a0033c0100 a0034c0038 a0036c0054 a0037c0087 a0039c0048 a0040c0082 a0041c0079 a0042c0080 a0043c0088 a0044c0078 a0045c0052 a0053c0064 a0054c0065 a0055c0097 a0056c0090 a0057c0091 a0062c0094 a0065c0099 a0066c0098	a0001c0001t0001 a0001c0006t0001 a0001c0020t0001 others(51): Show a0001c0001t0001 a0001c0006t0001 a0001c0020t0001 a0001c0022t0001 a0001c0055t0001 a0001c0081t0001 a0002c0004t0002 a0002c0005t0002 a0002c0008t0002 a0002c0008t0006 a0002c0047t0009 a0002c0056t0002 a0002c0057t0002 a0002c0074t0002 a0002c0076t0002 a0002c0084t0002 a0002c0089t0002 a0008c0009t0001 a0008c0073t0001 a0010c0025t0001 a0010c0067t0001 a0010c0069t0001 a0012c0014t0001 a0013c0018t0001 a0015c0017t0002 a0016c0024t0002 a0016c0061t0002 a0017c0030t0001 a0017c0096t0001 a0019c0026t0002 a0020c0028t0002 a0021c0033t0001 a0023c0035t0002 a0029c0075t0001 a0030c0043t0002 a0033c0100t0002 a0034c0038t0004 a0036c0054t0002 a0037c0087t0001 a0039c0048t0001 a0040c0082t0001 a0041c0079t0001 a0042c0080t0001 a0043c0088t0001 a0044c0078t0001 a0045c0052t0002 a0053c0064t0001 a0054c0065t0001 a0055c0097t0002 a0056c0090t0002 a0057c0091t0005 a0062c0094t0001 a0065c0099t0002 a0066c0098t0002	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0022 others(147): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0050 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0128 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0006t0001g0020 a0001c0006t0001g0057 a0001c0006t0001g0080 a0001c0006t0001g0115 a0001c0006t0001g0160 a0001c0006t0001g0188 a0001c0006t0001g0250 a0001c0020t0001g0130 a0001c0020t0001g0131 a0001c0020t0001g0133 a0001c0022t0001g0016 a0001c0022t0001g0117 a0001c0022t0001g0234 a0001c0055t0001g0230 a0001c0081t0001g0196 a0002c0004t0002g0031 a0002c0004t0002g0032 a0002c0004t0002g0058 a0002c0004t0002g0065 a0002c0004t0002g0070 a0002c0004t0002g0074 a0002c0004t0002g0079 a0002c0004t0002g0146 a0002c0004t0002g0227 a0002c0004t0002g0245 a0002c0004t0002g0258 a0002c0004t0002g0260 a0002c0004t0002g0266 a0002c0005t0002g0017 a0002c0005t0002g0029 a0002c0005t0002g0061 a0002c0005t0002g0067 a0002c0005t0002g0078 a0002c0005t0002g0082 a0002c0005t0002g0083 a0002c0005t0002g0120 a0002c0005t0002g0124 a0002c0005t0002g0136 a0002c0005t0002g0212 a0002c0008t0002g0003 a0002c0008t0002g0054 a0002c0008t0002g0113 a0002c0008t0002g0114 a0002c0008t0002g0193 a0002c0008t0002g0211 a0002c0008t0006g0167 a0002c0047t0009g0271 a0002c0056t0002g0218 a0002c0057t0002g0060 a0002c0074t0002g0033 a0002c0076t0002g0069 a0002c0084t0002g0051 a0002c0089t0002g0101 a0008c0009t0001g0103 a0008c0009t0001g0107 a0008c0009t0001g0138 a0008c0009t0001g0149 a0008c0009t0001g0170 a0008c0009t0001g0206 a0008c0073t0001g0242 a0010c0025t0001g0010 a0010c0025t0001g0162 a0010c0025t0001g0277 a0010c0067t0001g0259 a0010c0069t0001g0071 a0012c0014t0001g0038 a0012c0014t0001g0039 a0012c0014t0001g0041 a0012c0014t0001g0042 a0012c0014t0001g0104 a0013c0018t0001g0023 a0013c0018t0001g0180 a0013c0018t0001g0181 a0013c0018t0001g0184 a0015c0017t0002g0026 a0015c0017t0002g0027 a0015c0017t0002g0073 a0015c0017t0002g0226 a0016c0024t0002g0004 a0016c0024t0002g0086 a0016c0024t0002g0126 a0016c0061t0002g0198 a0017c0030t0001g0045 a0017c0030t0001g0154 a0017c0096t0001g0049 a0019c0026t0002g0011 a0019c0026t0002g0110 a0020c0028t0002g0056 a0020c0028t0002g0249 a0021c0033t0001g0009 a0023c0035t0002g0121 a0023c0035t0002g0147 a0029c0075t0001g0084 a0030c0043t0002g0275 a0033c0100t0002g0028 a0034c0038t0004g0252 a0036c0054t0002g0068 a0037c0087t0001g0197 a0039c0048t0001g0119 a0040c0082t0001g0185 a0041c0079t0001g0274 a0042c0080t0001g0241 a0043c0088t0001g0137 a0044c0078t0001g0132 a0045c0052t0002g0118 a0053c0064t0001g0055 a0054c0065t0001g0253 a0055c0097t0002g0085 a0056c0090t0002g0001 a0057c0091t0005g0024 a0062c0094t0001g0018 a0065c0099t0002g0144 a0066c0098t0002g0173	150	278	0.5396	34	c.301 others(53): Show c.3012-3958_3012-3925dupACCTAACACCCACGTATACACCTGTG TACCTACA		CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	25/38						chr1	TogoVar
CFAP74_chr1_1916957_2008786	1934313	C C	CACGTGGG others(27): Show CACGTGGGTGTTAGGTTGTAGGTACACAGGTGTAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0052 a0052	a0052c0062 a0052c0062	a0052c0062t0001 a0052c0062t0001	a0052c0062t0001g0246 a0052c0062t0001g0246	1	278	0.0036	34	c.301 others(53): Show c.3012-4011_3012-3978dupATACACCTGTGTACCTACAACCTAAC ACCCACGT		CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	25/38						chr1	TogoVar
CFAP74_chr1_1916957_2008786	1934666	C C	CGTGTGTA others(27): Show CGTGTGTACGTGGGTGTTAGGCTGTAGGTACACAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0108 a0004c0002t0001g0109 a0004c0002t0001g0108 a0004c0002t0001g0109	2	278	0.0072	34	c.301 others(53): Show c.3011+4155_3011+4188dupCTGTGTACCTACAGCCTAACACCCAC GTACACAC		CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	25/38						chr1	TogoVar
CFAP74_chr1_1916957_2008786	1981975	G G	GGGGGCAC others(27): Show GGGGGCACGCAGGACACACAGCCGCGGACAGACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02129.hp2 HG02132.hp2 others(4): Show HG00642.hp1 HG02129.hp2 HG02132.hp2 HG03492.hp2 HG04184.hp2 NA18952.hp2 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0008 a0036	a0001c0001 a0002c0008 a0004c0002 others(3): Show a0001c0001 a0002c0008 a0004c0002 a0007c0021 a0008c0009 a0036c0054	a0001c0001t0001 a0002c0008t0002 a0004c0002t0001 others(3): Show a0001c0001t0001 a0002c0008t0002 a0004c0002t0001 a0007c0021t0001 a0008c0009t0001 a0036c0054t0002	a0001c0001t0001g0232 a0002c0008t0002g0054 a0002c0008t0002g0193 others(4): Show a0001c0001t0001g0232 a0002c0008t0002g0054 a0002c0008t0002g0193 a0004c0002t0001g0225 a0007c0021t0001g0257 a0008c0009t0001g0170 a0036c0054t0002g0068	7	278	0.0252	34	c.500 others(51): Show c.500+3410_500+3411insGTGTCTGTCCGCGGCTGTGTGTCCTGCG TGCCCC		CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38						chr1	TogoVar
CFAP77_chr9_132405211_132578319	132438541	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	322	0.0031	34	c.195 others(53): Show c.195+28076_195+28077insATATATATATATATATATATATATAT ATATATTT		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132438541	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	322	0.0031	34	c.195 others(53): Show c.195+28076_195+28077insATATATATATATATATATATATATTT TTTTTTTT		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP92_chr3_128904873_128999076	128931441	A A	ATATATAT others(27): Show ATATATATGTGTGTATATATATATACACATACATG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	342	0.0029	34	c.275 others(53): Show c.2751+1225_2751+1258dupCATGTATGTGTATATATATATACACA CATATATA		CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	12/15						chr3	TogoVar
CFAP92_chr3_128904873_128999076	128932378	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0314 a0002c0004t0002g0314	1	342	0.0029	34	c.275 others(51): Show c.2751+321_2751+322insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT		CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	12/15						chr3	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18940.hp1 HG03942.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0101 a0001c0001t0001g0116	2	380	0.0053	34	c.153 others(51): Show c.153-3352_153-3351insTTATATATATATATATATATATATATAT ATATAT		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results (Total: 7994 hits)