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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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
CENPX_chr17_82013703_82027878	82016091	C C	CTGGGGCT others(24): Show CTGGGGCTGGGGATGTAAACCAGCCTTAATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	402	0.0025	31	c.31 others(42): Show c.3113_*3114insTGATTAAGGCTGGTTTACATCCCCAGCCCCA	CENPX	ENSG00000169689.15	transcript	ENST00000392359.8	protein_coding		2611		chr17	TogoVar
CEP112_chr17_65630537_66197133	65755269	T T	TCTACATG others(24): Show TCTACATGCCAGGAGCAAGAAGCTGATTCAGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	112	0.0089	31	c.239 others(50): Show c.2395-4546_2395-4545insTCTGAATCAGCTTCTTGCTCCTGGCA TGTAG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18990.hp2 NA18999.hp1 HG01175.hp1 NA18990.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017	a0001c0001t0002g0252 a0001c0001t0004g0052 a0001c0001t0017g0234 a0001c0001t0002g0252 a0001c0001t0004g0052 a0001c0001t0017g0234	3	336	0.0089	31	c.249 others(48): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0008 a0004c0009t0008	a0004c0009t0008g0023 a0004c0009t0008g0023	1	390	0.0026	31	c.-21 others(48): Show c.-21-1042_-21-1041insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP170_chr1_243119428_243260281	243146893	T T	TCCCTAAC others(24): Show TCCCTAACCAGTGAAGACCAATTGTGAATCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	303	0.0033	31	c.391 others(50): Show c.3912-4461_3912-4431dupGGGATTCACAATTGGTCTTCACTGGT TAGGG	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	14/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243146905	G G	GAAGACCA others(24): Show GAAGACCAATTGTGAATCCCCCCTAACCAGTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02451.hp1 HG02818.hp2 others(10): Show HG01099.hp1 HG02451.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0003c0003t0003	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 others(10): Show a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0111 a0001c0001t0005g0114 a0001c0001t0009g0057 a0003c0003t0003g0107	13	303	0.0429	31	c.391 others(50): Show c.3912-4473_3912-4443dupTACTGGTTAGGGGGGATTCACAATTG GTCTT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	14/19			chr1	TogoVar
CEP350_chr1_179949810_180119875	180075958	G G	GGAAAAAA others(24): Show GGAAAAAAAAAAATTGTAATAACTTTATTCCA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	248	0.0040	31	c.576 others(48): Show c.5767+738_5767+768dupGAAAAAAAAAAATTGTAATAACTTTATT CCA	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	28/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP43_chr6_166994397_167057718	167042814	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0196 a0001c0001t0196	a0001c0001t0196g0119 a0001c0001t0196g0119	1	376	0.0027	31	c.28 others(42): Show c.2836_*2837insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	13/13	2837		chr6	TogoVar
CEP85L_chr6_118455772_118656591	118542900	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	302	0.0033	31	c.102 others(52): Show c.1021-18981_1021-18980insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP97_chr3_101719614_101775562	101723014	T T	TATATATA others(24): Show TATATATAAATATATAACATATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02965.hp1 HG03139.hp1 others(2): Show HG02055.hp2 HG02965.hp1 HG03139.hp1 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0216 a0001c0001t0006g0217 others(1): Show a0001c0001t0006g0020 a0001c0001t0006g0216 a0001c0001t0006g0217 a0001c0001t0006g0218	5	352	0.0142	31	c.-16 others(42): Show c.-1663_-1662insATATATAAATATATAACATATATAATATATA	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1599		chr3	TogoVar
CEP97_chr3_101719614_101775562	101723227	C C	CATATATA others(24): Show CATATATAATATATAAATATATAACATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00738.hp1 others(26): Show HG00280.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01516.hp2 HG01517.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02886.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03710.hp1 NA18906.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0001t0031 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0031 a0001c0002t0003 a0001c0002t0028 a0001c0016t0029	a0001c0001t0001g0033 a0001c0001t0001g0094 a0001c0001t0001g0115 others(22): Show a0001c0001t0001g0033 a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0031g0122 a0001c0002t0003g0004 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0303 a0001c0002t0028g0138 a0001c0016t0029g0104	29	352	0.0824	31	c.-14 others(42): Show c.-1450_-1449insATATATAATATATAAATATATAACATATATA	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1386		chr3	TogoVar
CEP97_chr3_101719614_101775562	101723434	T T	TATATCTA others(24): Show TATATCTAAATATATAACATATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG03195.hp1 others(3): Show HG02280.hp1 HG02486.hp1 HG03195.hp1 HG03453.hp1 NA18522.hp2 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0009c0011t0001	a0001c0001t0004g0013 a0001c0001t0004g0304 a0001c0001t0010g0111 others(2): Show a0001c0001t0004g0013 a0001c0001t0004g0304 a0001c0001t0010g0111 a0001c0001t0011g0143 a0009c0011t0001g0142	6	352	0.0171	31	c.-12 others(42): Show c.-1243_-1242insATATCTAAATATATAACATATATAATATATA	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1179		chr3	TogoVar
CEP97_chr3_101719614_101775562	101723584	T T	TATATCTA others(24): Show TATATCTAAATATATAACATATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	352	0.0028	31	c.-10 others(42): Show c.-1093_-1092insATATCTAAATATATAACATATATAATATATA	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1029		chr3	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02273.hp1 HG02300.hp1 others(2): Show HG01934.hp2 HG02273.hp1 HG02300.hp1 NA18941.hp2 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0004 a0002c0004t0004 a0002c0003t0004 a0002c0004t0004	a0002c0003t0004g0113 a0002c0004t0004g0180 a0002c0004t0004g0243 others(2): Show a0002c0003t0004g0113 a0002c0004t0004g0180 a0002c0004t0004g0243 a0002c0004t0004g0248 a0002c0004t0004g0266	5	298	0.0168	31	c.239 others(48): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 NA20300.hp1 HG00735.hp1 HG01243.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0245 a0001c0001t0002g0345 a0001c0001t0002g0140 a0001c0001t0002g0245 a0001c0001t0002g0345	3	418	0.0072	31	c.-1- others(48): Show c.-1-19203_-1-19202insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	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(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0007	1	418	0.0024	31	c.47 others(42): Show c.4754_*4755insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4443		chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19079.hp1 NA19068.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0003g0030 a0002c0003t0001g0185 a0001c0001t0003g0030 a0002c0003t0001g0185	2	418	0.0048	31	c.51 others(42): Show c.5185_*5186insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS6_chr2_168451272_168780134	168631528	A A	ATATATAT others(24): Show ATATATATTAAATATAATATATATTTAATATT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02615.hp2 HG03704.hp1 others(3): Show HG01978.hp1 HG02615.hp2 HG03704.hp1 NA18954.hp1 NA19009.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0034	a0001c0001t0002g0088 a0001c0001t0005g0086 a0001c0001t0005g0134 others(3): Show a0001c0001t0002g0088 a0001c0001t0005g0086 a0001c0001t0005g0134 a0001c0001t0005g0142 a0001c0001t0007g0121 a0001c0001t0034g0090	6	176	0.0341	31	c.465 others(46): Show c.465+488_465+489insTATATTAAATATAATATATATTTAATATTT A	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168631528	A A	ATATATAT others(24): Show ATATATATTAAATATATTATATTTTTAATATT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	176	0.0057	31	c.465 others(46): Show c.465+488_465+489insTATATTAAATATATTATATTTTTAATATTT A	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168631550	T T	TTTTAATA others(24): Show TTTTAATATTTATATATTAAATATAATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03041.hp1 HG03209.hp1 others(3): Show HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0038 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0038 a0001c0002t0002 a0001c0002t0028	a0001c0001t0001g0130 a0001c0001t0001g0175 a0001c0001t0007g0119 others(3): Show a0001c0001t0001g0130 a0001c0001t0001g0175 a0001c0001t0007g0119 a0001c0001t0038g0115 a0001c0002t0002g0076 a0001c0002t0028g0075	6	176	0.0341	31	c.465 others(46): Show c.465+533_465+563dupATATATATTTAATATTTATATATTAAATAT A	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168631576	T T	TATATATT others(24): Show TATATATTTAATATTTATATATTAAATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02258.hp2 others(7): Show HG01255.hp2 HG01884.hp2 HG02258.hp2 HG02280.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013	a0001c0001t0002g0009 a0001c0001t0002g0109 a0001c0001t0004g0014 others(7): Show a0001c0001t0002g0009 a0001c0001t0002g0109 a0001c0001t0004g0014 a0001c0001t0007g0013 a0001c0001t0008g0040 a0001c0001t0009g0041 a0001c0001t0009g0124 a0001c0001t0010g0015 a0001c0001t0012g0127 a0001c0001t0013g0126	10	176	0.0568	31	c.465 others(46): Show c.465+555_465+585dupTTAAATATATAATATATTTAATATTTATAT A	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(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	336	0.0030	31	c.118 others(50): Show c.1189-3916_1189-3915insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(24): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp2 HG02886.hp1 HG02886.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0007c0021 a0002c0003 a0007c0021	a0002c0003t0001 a0007c0021t0001 a0002c0003t0001 a0007c0021t0001	a0002c0003t0001g0276 a0007c0021t0001g0361 a0002c0003t0001g0276 a0007c0021t0001g0361	2	449	0.0045	31	c.112 others(50): Show c.1126-1504_1126-1503insAAAAGAAAAAAAAAAAGAAAGAAAAC AGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP141_chr1_154194085_154211333	154199030	C C	CACTTTTG others(24): Show CACTTTTGAAACAAATCAAGATTTAGACATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	372	0.0027	31	c.39 others(40): Show c.396_*397insTCATGTCTAAATCTTGATTTGTTTCAAAAGT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding		54		chr1	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02280.hp2 HG02630.hp1 others(2): Show HG02165.hp1 HG02280.hp2 HG02630.hp1 HG03017.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0035 a0001c0001t0003 a0001c0001t0005 a0001c0001t0035	a0001c0001t0003g0025 a0001c0001t0003g0057 a0001c0001t0005g0197 others(1): Show a0001c0001t0003g0025 a0001c0001t0003g0057 a0001c0001t0005g0197 a0001c0001t0035g0056	5	416	0.0120	31	c.139 others(46): Show c.139+765_139+766insATATATATATATATATATATATATATATAT A	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	ACACACAC others(24): Show ACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	96	0.0104	31	c.242 others(48): Show c.242+1205_242+1206insCACACACACACACACACACACACACACA CAC	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5			chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799658	T T	TTATATAT others(24): Show TTATATATTTATAATATATAATATATAAAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00639.hp2 others(17): Show HG00423.hp1 HG00597.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02451.hp2 HG02735.hp1 HG02965.hp1 HG03017.hp1 HG03225.hp1 NA18950.hp2 NA18963.hp2 NA18964.hp2 NA18998.hp2 NA19005.hp1 NA19060.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0055 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0002g0051 a0002c0002t0001g0045 a0002c0002t0001g0068 a0002c0002t0001g0075	20	96	0.2083	31	c.334 others(50): Show c.334-70330_334-70329insATTTATAATATATAATATATAAAATA TATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334476	A A	AGGCACGC others(24): Show AGGCACGCGCACCCCCCCTCAACCTCTGGGCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01071.hp1 others(9): Show HG00642.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01257.hp2 HG02056.hp1 HG02165.hp2 NA18992.hp1 NA18998.hp2 NA19062.hp1 NA19080.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0003c0003 others(1): Show a0001c0001 a0001c0002 a0003c0003 a0006c0009	a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 a0003c0003t0002 a0006c0009t0001	a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0106 others(7): Show a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0224 a0001c0001t0018g0105 a0001c0002t0002g0036 a0001c0002t0002g0043 a0003c0003t0002g0259 a0003c0003t0002g0261 a0006c0009t0001g0110	12	436	0.0275	31	c.144 others(48): Show c.144-1245_144-1215dupCGCCCAGAGGTTGAGGGGGGGTGCGCGT GCC	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334482	G G	GCGCACCC others(24): Show GCGCACCCCCCCTCAACCTCTGGGCGGGCACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0155 a0001c0001t0013g0155	1	436	0.0023	31	c.144 others(48): Show c.144-1221_144-1220insTGTGCCCGCCCAGAGGTTGAGGGGGGGT GCG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP45_chr1_159867364_159905165	159873849	C C	CCTTCCTT others(24): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTCCTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(109): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02148.hp2 HG02273.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp2 NA18993.hp1 NA19000.hp1 NA19009.hp1 NA19010.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19075.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0013 others(1): Show a0001 a0003 a0013 a0014	a0001c0001 a0003c0004 a0013c0015 others(1): Show a0001c0001 a0003c0004 a0013c0015 a0014c0013	a0001c0001t0001 a0003c0004t0001 a0013c0015t0001 others(1): Show a0001c0001t0001 a0003c0004t0001 a0013c0015t0001 a0014c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0003c0004t0001g0114 a0013c0015t0001g0263 a0014c0013t0001g0209	112	410	0.2732	31	c.135 others(48): Show c.1353-682_1353-681insCAAGGAAGAAGGAAGGAAGGAAGGAAGG AAG	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	10/11			chr1	TogoVar
CFAP46_chr10_132803392_132947570	132823161	G G	GTGCTGAT others(24): Show GTGCTGATGTGTGCTGTGTGTTGTGTGAGTGC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0071 a0071	a0071c0098 a0071c0098	a0071c0098t0002 a0071c0098t0002	a0071c0098t0002g0023 a0071c0098t0002g0023	1	246	0.0041	31	c.711 others(50): Show c.7118-8248_7118-8247insGCACTCACACAACACACAGCACACAT CAGCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888364	A A	ACCCCTGC others(24): Show ACCCCTGCCACCTTCACCCCTGCCACCTGCAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	246	0.0041	31	c.330 others(50): Show c.3305-2406_3305-2405insGTGCAGGTGGCAGGGGTGAAGGTGGC AGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888510	A A	ACCCCTGC others(24): Show ACCCCTGCTGCCTGCACCCCGCCACCTTCACC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02615.hp1 others(1): Show HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 others(1): Show a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242	4	246	0.0163	31	c.330 others(50): Show c.3305-2552_3305-2551insGGTGAAGGTGGCGGGGTGCAGGCAGC AGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888549	T T	TCACCCCC others(24): Show TCACCCCCTGCCGCCTGCACCCCTGCCGCCTG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0000 a0000	a0000c0087 a0000c0087	a0000c0087t0002 a0000c0087t0002	a0000c0087t0002g0112 a0000c0087t0002g0112	1	246	0.0041	31	c.330 others(50): Show c.3305-2591_3305-2590insCAGGCGGCAGGGGTGCAGGCGGCAGG GGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132902278	A A	AAAGCTCT others(24): Show AAAGCTCTGTGGCCCCACGGGTCACAGACGGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG01257.hp2 others(25): Show HG01069.hp1 HG01243.hp1 HG01257.hp2 HG01884.hp2 HG01891.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp2	a0010 a0012 a0017 others(14): Show a0010 a0012 a0017 a0021 a0022 a0026 a0029 a0043 a0048 a0049 a0059 a0066 a0067 a0068 a0069 a0072 a0074	a0010c0011 a0010c0072 a0012c0025 others(19): Show a0010c0011 a0010c0072 a0012c0025 a0012c0076 a0017c0026 a0017c0094 a0021c0016 a0022c0041 a0022c0042 a0026c0078 a0026c0081 a0029c0099 a0043c0040 a0048c0107 a0049c0106 a0059c0082 a0066c0077 a0067c0069 a0068c0071 a0069c0070 a0072c0075 a0074c0109	a0010c0011t0001 a0010c0072t0002 a0012c0025t0002 others(19): Show a0010c0011t0001 a0010c0072t0002 a0012c0025t0002 a0012c0076t0001 a0017c0026t0002 a0017c0094t0001 a0021c0016t0001 a0022c0041t0001 a0022c0042t0001 a0026c0078t0002 a0026c0081t0002 a0029c0099t0002 a0043c0040t0001 a0048c0107t0002 a0049c0106t0002 a0059c0082t0002 a0066c0077t0001 a0067c0069t0002 a0068c0071t0002 a0069c0070t0002 a0072c0075t0001 a0074c0109t0002	a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 others(25): Show a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0010c0072t0002g0004 a0012c0025t0002g0007 a0012c0025t0002g0014 a0012c0076t0001g0131 a0017c0026t0002g0097 a0017c0026t0002g0099 a0017c0094t0001g0119 a0021c0016t0001g0170 a0021c0016t0001g0171 a0022c0041t0001g0168 a0022c0042t0001g0166 a0026c0078t0002g0033 a0026c0081t0002g0098 a0029c0099t0002g0017 a0043c0040t0001g0174 a0048c0107t0002g0103 a0049c0106t0002g0102 a0059c0082t0002g0100 a0066c0077t0001g0127 a0067c0069t0002g0015 a0068c0071t0002g0003 a0069c0070t0002g0008 a0072c0075t0001g0235 a0074c0109t0002g0104	28	246	0.1138	31	c.292 others(50): Show c.2925-2643_2925-2613dupCCCGTCTGTGACCCGTGGGGCCACAG AGCTT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	22/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132902311	A A	AGCTCTGT others(24): Show AGCTCTGTGGCCCCACGGGTCACAGACGGGAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01884.hp1 HG02055.hp1 others(5): Show HG00544.hp1 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02559.hp1 NA18940.hp2 NA18960.hp2 NA18980.hp1	a0003 a0005 a0011 a0003 a0005 a0011	a0003c0007 a0005c0013 a0011c0010 a0003c0007 a0005c0013 a0011c0010	a0003c0007t0002 a0005c0013t0001 a0011c0010t0001 a0003c0007t0002 a0005c0013t0001 a0011c0010t0001	a0003c0007t0002g0056 a0005c0013t0001g0217 a0005c0013t0001g0218 others(5): Show a0003c0007t0002g0056 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208	8	246	0.0325	31	c.292 others(50): Show c.2925-2646_2925-2645insGTCCCGTCTGTGACCCGTGGGGCCAC AGAGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	22/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132932333	C C	CTCCCCAC others(24): Show CTCCCCACACTCCCCACACAGAGCCTGGGCCT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02486.hp2 HG03017.hp1 others(3): Show HG01169.hp1 HG02486.hp2 HG03017.hp1 HG03669.hp1 HG04228.hp1 NA19060.hp2	a0025 a0050 a0051 others(2): Show a0025 a0050 a0051 a0052 a0053	a0025c0033 a0050c0104 a0051c0105 others(2): Show a0025c0033 a0050c0104 a0051c0105 a0052c0067 a0053c0068	a0025c0033t0001 a0025c0033t0003 a0050c0104t0001 others(3): Show a0025c0033t0001 a0025c0033t0003 a0050c0104t0001 a0051c0105t0001 a0052c0067t0002 a0053c0068t0002	a0025c0033t0001g0238 a0025c0033t0003g0237 a0050c0104t0001g0236 others(3): Show a0025c0033t0001g0238 a0025c0033t0003g0237 a0050c0104t0001g0236 a0051c0105t0001g0239 a0052c0067t0002g0013 a0053c0068t0002g0012	6	246	0.0244	31	c.866 others(48): Show c.866+2418_866+2419insAGGCCCAGGCTCTGTGTGGGGAGTGTGG GGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57			chr10	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(24): Show GAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0284 a0001c0002t0001g0284	1	316	0.0032	31	c.117 others(50): Show c.1175-1833_1175-1832insGAGAGAGAAGAAAGAAAGAAAGAAAG AAAGA	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(24): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	316	0.0032	31	c.117 others(50): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAAG AAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0267 a0003c0003t0001g0267	1	402	0.0025	31	c.131 others(50): Show c.1316+1273_1316+1274insATATATATATATATATATATATATAT TTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar
CFAP54_chr12_96484577_96880555	96486137	T T	TTTTCTTT others(24): Show TTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0161 a0014c0014t0001g0161	1	268	0.0037	31	c.-34 others(42): Show c.-3473_-3472insTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTC	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding		3439		chr12	TogoVar
CFAP70_chr10_73248762_73363864	73362980	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03516.hp1 HG01891.hp2 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0008 a0003c0003t0002g0009 a0003c0003t0002g0008 a0003c0003t0002g0009	2	220	0.0091	31	c.-42 others(42): Show c.-4243_-4242insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding		4117		chr10	TogoVar
CFAP74_chr1_1916957_2008786	1928088	A A	AGGAGAAG others(24): Show AGGAGAAGCTTCCCCTCGAGTGCACGACCCAG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	278	0.0036	31	c.338 others(48): Show c.3388-343_3388-342insCTGGGTCGTGCACTCGAGGGGAAGCTTC TCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38			chr1	TogoVar
CFAP99_chr4_2413955_2468002	2466647	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0067 a0001c0004t0001g0067	1	350	0.0029	31	c.37 others(42): Show c.3721_*3722insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3646		chr4	TogoVar
CFDP1_chr16_75288710_75438503	75297195	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	314	0.0032	31	c.810 others(48): Show c.810-3154_810-3153insCACACACACACACACACACACACACACA CAC	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75306825	A A	AAGCACTG others(24): Show AAGCACTGTTTTCCAGACAACTCAACCCCTAC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	314	0.0032	31	c.651 others(48): Show c.651-1674_651-1644dupGTAGGGGTTGAGTTGTCTGGAAAACAGT GCT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18956.hp1 HG06807.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0197 a0001c0002t0001g0095 a0001c0001t0001g0197 a0001c0002t0001g0095	2	314	0.0064	31	c.651 others(50): Show c.651-44501_651-44500insATATATATATATATATATATATATAT ATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	314	0.0032	31	c.651 others(50): Show c.651-44505_651-44504insATATATATATATATATATATATATAT ATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349688	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0068 a0001c0002t0005g0068	1	314	0.0032	31	c.651 others(50): Show c.651-44507_651-44506insATATATATATATATATATATATATAT ATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFI_chr4_109735695_109806999	109753099	C C	CAAATATT others(24): Show CAAATATTTATAATATATATTTATTATATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0021 a0003c0004t0001g0021	1	354	0.0028	31	c.905 others(46): Show c.905-597_905-596insATTATATAATAAATATATATTATAAATATT T	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar

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