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	84154358	G G	GTCTGTCT others(21): Show GTCTGTCTGTCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0198 a0001c0005t0004g0198	1	214	0.0047	28	c.299 others(45): Show c.2994+939_2994+940insTAGATAGATAGATAGATAGACAGACAGA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	22/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84159547	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0107 a0001c0005t0004g0107	1	214	0.0047	28	c.278 others(47): Show c.2781+1264_2781+1265insAAAAAATATATATATATATATATATA TA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0006 a0016c0023t0006	a0016c0023t0006g0031 a0016c0023t0006g0031	1	390	0.0026	28	c.-21 others(45): Show c.-21-1042_-21-1041insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	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(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18999.hp1 NA19084.hp2 NA18994.hp1 NA18999.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0045	3	303	0.0099	28	c.367 others(47): Show c.3677-3336_3677-3309dupCACACACACACACACACACACACACA CA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243225992	T T	TACACGTA others(21): Show TACACGTATATATATCTAGATATATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19240.hp2 NA18522.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0001 a0001c0001t0003 a0002c0004t0001	a0001c0001t0003g0112 a0002c0004t0001g0130 a0001c0001t0003g0112 a0002c0004t0001g0130	2	303	0.0066	28	c.-41 others(43): Show c.-41-699_-41-672dupGTATATATATCTAGATATATATACGTGT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP295NL_chr17_78885579_78908201	78893116	C C	CACATGTG others(21): Show CACATGTGTGTGCAGGGGTGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	430	0.0023	28	c.45- others(41): Show c.45-685_45-658dupACGCACACACACCCCTGCACACACATGT	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding	2/2			chr17	TogoVar
CEP295NL_chr17_78885579_78908201	78893260	G G	GGGGTGTG others(21): Show GGGGTGTGTGTGTAGGGGTGTGCGGGCAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp1 HG02280.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0065 a0002c0002t0002g0097 a0002c0002t0001g0065 a0002c0002t0002g0097	2	430	0.0047	28	c.45- others(41): Show c.45-829_45-802dupTTGCCCGCACACCCCTACACACACACCC	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding	2/2			chr17	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03139.hp1 NA18906.hp2 HG02615.hp1 HG03139.hp1 NA18906.hp2	a0002 a0006 a0021 a0002 a0006 a0021	a0002c0002 a0006c0005 a0021c0026 a0002c0002 a0006c0005 a0021c0026	a0002c0002t0002 a0006c0005t0002 a0021c0026t0002 a0002c0002t0002 a0006c0005t0002 a0021c0026t0002	a0002c0002t0002g0020 a0006c0005t0002g0078 a0021c0026t0002g0113 a0002c0002t0002g0020 a0006c0005t0002g0078 a0021c0026t0002g0113	3	430	0.0070	28	c.-10 others(39): Show c.-1057_-1056insCACACACACACACACACACACACACACA	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		891		chr17	TogoVar
CEP350_chr1_179949810_180119875	180004906	G G	GCTTGCTT others(21): Show GCTTGCTTGCTTGCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0019 a0002c0020t0019	a0002c0020t0019g0010 a0002c0020t0019g0010	1	248	0.0040	28	c.113 others(47): Show c.1133-1545_1133-1544insGCTTGCTTGCTTTCTTTCTTTCTTTC TT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP43_chr6_166994397_167057718	167042814	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG03130.hp2 HG03688.hp1 others(2): Show HG01928.hp1 HG03130.hp2 HG03688.hp1 NA18522.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0176 a0001c0001t0185 others(2): Show a0001c0001t0107 a0001c0001t0176 a0001c0001t0185 a0001c0001t0186 a0001c0001t0198	a0001c0001t0107g0156 a0001c0001t0176g0272 a0001c0001t0185g0136 others(2): Show a0001c0001t0107g0156 a0001c0001t0176g0272 a0001c0001t0185g0136 a0001c0001t0186g0001 a0001c0001t0198g0013	5	376	0.0133	28	c.28 others(39): Show c.2861_*2862insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	13/13	2862	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP44_chr4_174278911_174325328	174320700	G G	GTGTGTGT others(21): Show GTGTGTGTATGTGTGTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	388	0.0026	28	c.33 others(39): Show c.3317_*3318insTGTGTGTATGTGTGTGTGTGTGTGTGTA	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding		373		chr4	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(21): Show GGGGGGGGGGGGGGGGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	302	0.0033	28	c.232 others(47): Show c.232+32152_232+32153insACACACACACACCCCCCCCCCCCCCC CC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(21): Show GGGGGGGGGGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0259	1	302	0.0033	28	c.232 others(47): Show c.232+32152_232+32153insACACACACACACACACACACCCCCCC CC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118614865	C C	CAGACAGA others(21): Show CAGACAGACAGACAGACAGACAGACAGAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0284 a0002c0002t0005g0284	1	302	0.0033	28	c.232 others(47): Show c.232+17587_232+17588insATCTGTCTGTCTGTCTGTCTGTCTGT CT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01358.hp2 NA18952.hp2 HG01074.hp2 HG01358.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0134 a0001c0001t0003g0144 a0001c0001t0003g0103 a0001c0001t0003g0134 a0001c0001t0003g0144	3	342	0.0088	28	c.208 others(45): Show c.208+4426_208+4427insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	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(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG02738.hp2 others(10): Show HG00408.hp2 HG00609.hp2 HG02738.hp2 HG03540.hp2 NA18950.hp1 NA18990.hp1 NA18995.hp1 NA19003.hp1 NA19007.hp1 NA19056.hp1 NA19060.hp2 NA19079.hp1 NA19087.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0003t0004 a0002c0003t0009 others(4): Show a0002c0003t0002 a0002c0003t0004 a0002c0003t0009 a0002c0003t0027 a0002c0004t0001 a0002c0004t0004 a0002c0004t0011	a0002c0003t0002g0125 a0002c0003t0004g0096 a0002c0003t0004g0101 others(10): Show a0002c0003t0002g0125 a0002c0003t0004g0096 a0002c0003t0004g0101 a0002c0003t0004g0105 a0002c0003t0004g0109 a0002c0003t0009g0094 a0002c0003t0009g0104 a0002c0003t0009g0120 a0002c0003t0027g0114 a0002c0004t0001g0147 a0002c0004t0004g0167 a0002c0004t0004g0207 a0002c0004t0011g0246	13	298	0.0436	28	c.239 others(45): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS3_chr15_100395395_100533950	100466812	C C	CCTCTCTC others(21): Show CCTCTCTCCCTCTCTCCCTCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG06807.hp1 NA20129.hp2 HG01261.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0001 a0001c0001t0038	a0001c0001t0001g0185 a0001c0001t0001g0208 a0001c0001t0038g0346 a0001c0001t0001g0185 a0001c0001t0001g0208 a0001c0001t0038g0346	3	362	0.0083	28	c.845 others(45): Show c.845+2565_845+2566insAGAGGGAGAGAGGGAGAGAGGGAGAGAG	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100467874	G G	GATAGATA others(21): Show GATAGATAGATATAGATATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0241 a0002c0002t0014g0241	1	362	0.0028	28	c.845 others(45): Show c.845+1503_845+1504insATCTATATCTATATCTATATCTATCTAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8266863	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	418	0.0024	28	c.47 others(39): Show c.4754_*4755insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4443		chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01978.hp1 NA18970.hp2 HG00408.hp1 HG01978.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0004 a0001c0001t0002 a0002c0003t0004	a0001c0001t0002g0289 a0002c0003t0004g0227 a0002c0003t0004g0249 a0001c0001t0002g0289 a0002c0003t0004g0227 a0002c0003t0004g0249	3	418	0.0072	28	c.51 others(39): Show c.5185_*5186insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS5_chr12_50124289_50172369	50148925	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0309 a0001c0002t0002g0309	1	320	0.0031	28	c.198 others(45): Show c.198-4869_198-4868insATATATATATATATATATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50156420	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0200 a0001c0001t0006g0200	1	320	0.0031	28	c.197 others(47): Show c.197+10680_197+10681insTATATATATATATATATATATATATA TA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168486518	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	176	0.0057	28	c.170 others(47): Show c.170+29900_170+29901insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168520598	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0018 a0003c0007t0005g0018	1	176	0.0057	28	c.171 others(47): Show c.171-26996_171-26969dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG06807.hp2 NA18906.hp1 HG02257.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0007 a0001c0001t0001 a0001c0001t0002 a0001c0006t0007	a0001c0001t0001g0120 a0001c0001t0002g0017 a0001c0006t0007g0010 a0001c0001t0001g0120 a0001c0001t0002g0017 a0001c0006t0007g0010	3	176	0.0171	28	c.277 others(45): Show c.277-1459_277-1458insTATATATATATATATATATATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTTTTTAT others(21): Show TTTTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	176	0.0057	28	c.277 others(45): Show c.277-1459_277-1458insTTTTTATATATATATATATATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01169.hp1 HG02809.hp2 others(2): Show HG00597.hp2 HG01169.hp1 HG02809.hp2 HG03471.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0036 a0001c0001t0002g0215 a0001c0001t0007g0186 others(2): Show a0001c0001t0001g0036 a0001c0001t0002g0215 a0001c0001t0007g0186 a0001c0002t0001g0329 a0001c0002t0001g0331	5	336	0.0149	28	c.118 others(47): Show c.1189-3916_1189-3915insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CES1_chr16_55797851_55838096	55835677	G G	GAGAGAGG others(21): Show GAGAGAGGAAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	87	0.0230	28	c.-26 others(39): Show c.-2623_-2622insTCCTTCCTTCCTTCCTTCCTTCCTCTCT	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding		2582		chr16	TogoVar
CES1_chr16_55797851_55838096	55835677	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01256.hp2 NA18953.hp1 others(5): Show HG00280.hp2 HG01256.hp2 NA18953.hp1 NA18979.hp1 NA18979.hp2 NA19011.hp1 NA19011.hp2 NA19077.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0006c0007t0001g0062	8	87	0.0920	28	c.-26 others(39): Show c.-2623_-2622insTCCTTCCTTCCTTCCTTCCTTCCTTCCT	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding		2582		chr16	TogoVar
CES5A_chr16_55841154_55880373	55854527	G G	GTTTCTTT others(21): Show GTTTCTTTCTGTTTTCTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG03579.hp2 others(8): Show HG00735.hp2 HG01192.hp1 HG03579.hp2 HG04199.hp2 NA18967.hp1 NA18988.hp1 NA19058.hp2 NA19066.hp2 NA19083.hp2 NA19091.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0032 a0034	a0001c0001 a0002c0005 a0003c0011 others(2): Show a0001c0001 a0002c0005 a0003c0011 a0032c0041 a0034c0035	a0001c0001t0001 a0001c0001t0003 a0002c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0002c0005t0001 a0002c0005t0007 a0003c0011t0006 a0032c0041t0002 a0034c0035t0001	a0001c0001t0001g0341 a0001c0001t0001g0374 a0001c0001t0003g0034 others(8): Show a0001c0001t0001g0341 a0001c0001t0001g0374 a0001c0001t0003g0034 a0001c0001t0003g0085 a0002c0005t0001g0226 a0002c0005t0001g0258 a0002c0005t0007g0414 a0002c0005t0007g0417 a0003c0011t0006g0173 a0032c0041t0002g0301 a0034c0035t0001g0221	11	449	0.0245	28	c.112 others(47): Show c.1126-1500_1126-1499insAAAAAAAAAGAAAGAAAACAGAAAGA AA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CES5A_chr16_55841154_55880373	55854532	T T	TTTCTGTT others(21): Show TTTCTGTTTTCTTTCTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0257 a0002c0003t0001g0257	1	449	0.0022	28	c.112 others(47): Show c.1126-1505_1126-1504insGAAAAAAAAAAAAAGAAAGAAAACAG AA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CES5A_chr16_55841154_55880373	55866658	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0049 a0003c0004t0004g0049	1	449	0.0022	28	c.552 others(43): Show c.552-543_552-542insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	4/12			chr16	TogoVar
CETN1_chr18_575380_587114	576446	G G	GAGAGAGG others(21): Show GAGAGAGGAAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0000 a0002c0002t0004g0000	1	422	0.0024	28	c.-39 others(39): Show c.-3963_-3962insAGAGAGGAAGGAAGGAAGGAAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3933		chr18	TogoVar
CETN1_chr18_575380_587114	576446	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	28	c.-39 others(39): Show c.-3963_-3962insAGGAAGGAAGGAAGGAAGGAAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3933		chr18	TogoVar
CFAP251_chr12_121913592_122008919	121944178	G G	GTGCCAGG others(21): Show GTGCCAGGCACTGTGGTAAGTACATGCCT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	354	0.0028	28	c.119 others(47): Show c.1191+1204_1191+1231dupTGCCAGGCACTGTGGTAAGTACATGC CT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP276_chr1_109100951_109117747	109113451	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA19079.hp1 NA18951.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	404	0.0050	28	c.-77 others(37): Show c.-773_-772insACTCCCTCTCTCTCTCTCTCTCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		705		chr1	TogoVar
CFAP298_chr21_32594354_32617377	32611338	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0190 a0001c0001t0031g0190	1	416	0.0024	28	c.139 others(43): Show c.139+766_139+767insTTATATATATATATATATATATATATAT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG00642.hp2 others(16): Show HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG02040.hp2 HG02071.hp1 HG02451.hp1 HG02451.hp2 HG02922.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18984.hp1 NA19060.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0009t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0009t0002 a0002c0002t0001 a0002c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0054 a0001c0001t0001g0055 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0009t0002g0015 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0045 a0002c0002t0001g0068 a0002c0005t0001g0058 a0002c0005t0001g0070 a0002c0005t0001g0071	19	96	0.1979	28	c.242 others(45): Show c.242+1207_242+1234dupCACACACACACACACACACACACACACA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80800505	T T	TATATAAT others(21): Show TATATAATATATAATATATTGATATATTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00639.hp1 others(9): Show HG00408.hp1 HG00597.hp2 HG00639.hp1 HG02280.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03540.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0005t0001 a0002c0006t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 others(9): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0004t0001g0065 a0001c0004t0001g0066 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0046 a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 a0002c0006t0001g0034	12	96	0.1250	28	c.334 others(47): Show c.334-69470_334-69469insTGATATATTAATATAATATATAATAT AT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80800515	A A	ATAATATA others(21): Show ATAATATATTGATATATTAATATAATATG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18998.hp1 NA18957.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0052 a0001c0001t0001g0053	2	96	0.0208	28	c.334 others(47): Show c.334-69470_334-69469insTGATATATTAATATAATATGTAATAT AT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80800557	T T	TTATATAA others(21): Show TTATATAATATATTAATATAAATATATAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	96	0.0104	28	c.334 others(47): Show c.334-69374_334-69347dupAATATATTAATATAAATATATAATAT AT	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(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	96	0.0104	28	c.334 others(45): Show c.334-3924_334-3897dupATATATATATATATATATATATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334520	C C	CCCCCTCA others(21): Show CCCCCTCAACCTCTGGGCGGGCACGCGCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00673.hp1 others(59): Show HG00099.hp2 HG00423.hp2 HG00673.hp1 HG00738.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03239.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG03927.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA18989.hp2 NA19011.hp1 NA19057.hp1 NA19058.hp2 NA19068.hp1 NA19076.hp2 NA19079.hp2 NA19085.hp1 NA19088.hp2 NA20752.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0004c0006 a0004c0008 a0005c0007 a0005c0011 a0007c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0024 a0001c0002t0002 a0001c0005t0003 a0001c0010t0002 a0004c0006t0003 a0004c0008t0011 a0005c0007t0009 a0005c0011t0025 a0007c0020t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 others(40): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0004g0198 a0001c0001t0004g0201 a0001c0001t0021g0210 a0001c0001t0024g0165 a0001c0002t0002g0242 a0001c0002t0002g0267 a0001c0002t0002g0274 a0001c0005t0003g0014 a0001c0005t0003g0038 a0001c0005t0003g0039 a0001c0005t0003g0233 a0001c0005t0003g0235 a0001c0005t0003g0237 a0001c0010t0002g0228 a0004c0006t0003g0040 a0004c0006t0003g0270 a0004c0008t0011g0199 a0004c0008t0011g0213 a0005c0007t0009g0225 a0005c0011t0025g0268 a0007c0020t0001g0075	62	436	0.1422	28	c.143 others(45): Show c.143+1237_143+1238insTGCGCGTGCCCGCCCAGAGGTTGAGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334521	C C	CCCCCTCA others(21): Show CCCCCTCAACCTCTGGGCGGGCACGCGCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp2 NA19043.hp2 HG03139.hp1 HG03225.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0006 a0005c0007t0001 a0001c0002t0006 a0005c0007t0001	a0001c0002t0006g0054 a0001c0002t0006g0057 a0005c0007t0001g0220 a0001c0002t0006g0054 a0001c0002t0006g0057 a0005c0007t0001g0220	3	436	0.0069	28	c.143 others(45): Show c.143+1236_143+1237insTGCGCGTGCCCGCCCAGAGGTTGAGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP44_chr3_113281930_113446493	113320416	T T	TATATATA others(21): Show TATATATATGATATATATTGATATATATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0026 a0026	a0026c0042 a0026c0042	a0026c0042t0078 a0026c0042t0078	a0026c0042t0078g0320 a0026c0042t0078g0320	1	348	0.0029	28	c.451 others(47): Show c.4516+6001_4516+6028dupCATATATATCAATATATATCATATAT AT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	28/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113320423	A A	ATGATATA others(21): Show ATGATATATATTGATATATATGATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01106.hp2 HG01891.hp2 others(26): Show HG00408.hp1 HG01106.hp2 HG01891.hp2 HG02055.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18957.hp2 NA18977.hp2 NA18998.hp2 NA19012.hp1 NA19043.hp1 NA19066.hp1 NA19067.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19088.hp2 NA19090.hp1	a0005 a0008 a0011 others(4): Show a0005 a0008 a0011 a0016 a0017 a0027 a0028	a0005c0005 a0008c0010 a0011c0017 others(5): Show a0005c0005 a0008c0010 a0011c0017 a0016c0024 a0017c0039 a0017c0040 a0027c0044 a0028c0038	a0005c0005t0010 a0005c0005t0012 a0005c0005t0015 others(13): Show a0005c0005t0010 a0005c0005t0012 a0005c0005t0015 a0005c0005t0046 a0005c0005t0054 a0005c0005t0059 a0008c0010t0027 a0008c0010t0042 a0008c0010t0043 a0011c0017t0028 a0011c0017t0041 a0016c0024t0024 a0017c0039t0066 a0017c0040t0022 a0027c0044t0010 a0028c0038t0053	a0005c0005t0010g0007 a0005c0005t0010g0008 a0005c0005t0010g0009 others(26): Show a0005c0005t0010g0007 a0005c0005t0010g0008 a0005c0005t0010g0009 a0005c0005t0010g0014 a0005c0005t0010g0015 a0005c0005t0010g0053 a0005c0005t0012g0012 a0005c0005t0015g0010 a0005c0005t0015g0011 a0005c0005t0015g0013 a0005c0005t0015g0017 a0005c0005t0015g0020 a0005c0005t0015g0021 a0005c0005t0046g0019 a0005c0005t0054g0016 a0005c0005t0059g0022 a0008c0010t0027g0048 a0008c0010t0027g0283 a0008c0010t0042g0049 a0008c0010t0043g0050 a0011c0017t0028g0277 a0011c0017t0028g0278 a0011c0017t0041g0041 a0016c0024t0024g0279 a0016c0024t0024g0280 a0017c0039t0066g0122 a0017c0040t0022g0281 a0027c0044t0010g0297 a0028c0038t0053g0023	29	348	0.0833	28	c.451 others(47): Show c.4516+6021_4516+6022insCATATATCATATATATCAATATATAT CA	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	28/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113320423	A A	ATGATATA others(21): Show ATGATATATATTTATATATATGATATATG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00558.hp1 others(22): Show HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG02145.hp2 HG02738.hp1 HG03017.hp2 HG03704.hp2 HG03927.hp1 NA18951.hp2 NA18952.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp2 NA18985.hp2 NA18991.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19077.hp1 NA19080.hp2 NA19085.hp1 NA19091.hp2	a0004 a0023 a0004 a0023	a0004c0004 a0004c0043 a0023c0037 a0004c0004 a0004c0043 a0023c0037	a0004c0004t0004 a0004c0004t0006 a0004c0004t0007 others(5): Show a0004c0004t0004 a0004c0004t0006 a0004c0004t0007 a0004c0004t0012 a0004c0004t0017 a0004c0004t0063 a0004c0043t0057 a0023c0037t0045	a0004c0004t0004g0305 a0004c0004t0006g0288 a0004c0004t0006g0289 others(22): Show a0004c0004t0004g0305 a0004c0004t0006g0288 a0004c0004t0006g0289 a0004c0004t0006g0301 a0004c0004t0007g0291 a0004c0004t0007g0292 a0004c0004t0007g0293 a0004c0004t0007g0298 a0004c0004t0007g0299 a0004c0004t0007g0300 a0004c0004t0007g0307 a0004c0004t0007g0308 a0004c0004t0007g0309 a0004c0004t0012g0286 a0004c0004t0012g0287 a0004c0004t0012g0294 a0004c0004t0012g0295 a0004c0004t0012g0303 a0004c0004t0012g0306 a0004c0004t0017g0290 a0004c0004t0017g0296 a0004c0004t0017g0304 a0004c0004t0063g0302 a0004c0043t0057g0276 a0023c0037t0045g0037	25	348	0.0718	28	c.451 others(47): Show c.4516+6021_4516+6022insCATATATCATATATATAAATATATAT CA	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	28/34			chr3	TogoVar
CFAP45_chr1_159867364_159905165	159878753	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18971.hp1 HG00597.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0244 a0001c0001t0001g0182 a0001c0001t0001g0244	2	410	0.0049	28	c.104 others(47): Show c.1045-1319_1045-1292dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	8/11			chr1	TogoVar
CFAP46_chr10_132803392_132947570	132888308	C C	CCCTGCCA others(21): Show CCCTGCCACCTTCACCCCTGCCGCCTGCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0009 a0001c0029t0002g0009	1	246	0.0041	28	c.330 others(47): Show c.3305-2377_3305-2350dupTGCAGGCGGCAGGGGTGAAGGTGGCA GG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888594	G G	GCACCTGC others(21): Show GCACCTGCCACCTTCACCCCTGCCACCTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0010 a0010	a0010c0072 a0010c0072	a0010c0072t0002 a0010c0072t0002	a0010c0072t0002g0004 a0010c0072t0002g0004	1	246	0.0041	28	c.330 others(47): Show c.3305-2636_3305-2635insAAGGTGGCAGGGGTGAAGGTGGCAGG TG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar

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Search Results (Total: 10000 hits)