JoGo: Joint Open Genome and Omics Platform

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
CEP164_chr11_117322854_117418266	117337510	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02683.hp1 HG01884.hp1 HG02683.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0008 a0004c0009t0008	a0004c0009t0008g0021 a0004c0009t0008g0022 a0004c0009t0008g0021 a0004c0009t0008g0022	2	390	0.0051	38	c.-21 others(55): Show c.-21-1042_-21-1041insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP170_chr1_243119428_243260281	243226058	G G	GATATATA others(31): Show GATATATATATCTATATCTAGATATAAATATATCTAGAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02451.hp2 others(7): Show HG01884.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02896.hp1 HG03195.hp1 NA18906.hp1 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0149 a0003c0003t0003g0150 a0003c0003t0003g0151 others(7): Show a0003c0003t0003g0149 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0003g0153 a0003c0003t0003g0154 a0003c0003t0003g0155 a0003c0003t0003g0156 a0003c0003t0003g0157 a0003c0003t0003g0161	10	303	0.0330	38	c.-41 others(53): Show c.-41-738_-41-737insATCTAGATATATTTATATCTAGATATAGAT ATATATAT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATATATAT others(31): Show ATATATATGTGTATGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG01257.hp2 others(6): Show HG00140.hp2 HG00733.hp1 HG01257.hp2 HG01358.hp1 HG01993.hp1 HG02698.hp1 HG03239.hp1 HG06807.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0212 a0003c0003t0002g0005 a0003c0003t0002g0211 a0001c0001t0002g0212 a0003c0003t0002g0005 a0003c0003t0002g0211	9	430	0.0209	38	c.-10 others(49): Show c.-1057_-1056insCACACACACACACACACACACACACATACACATA TATA	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		891		chr17	TogoVar
CEP295NL_chr17_78885579_78908201	78904091	A A	ATGTGTGT others(31): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG02818.hp2 others(6): Show HG01884.hp1 HG02809.hp1 HG02818.hp2 HG02976.hp1 HG03209.hp2 HG04204.hp1 NA18522.hp1 NA19005.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0002 a0005c0006 others(1): Show a0001c0001 a0002c0002 a0005c0006 a0007c0007	a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0005c0006t0002 a0007c0007t0002	a0001c0001t0002g0002 a0001c0001t0002g0029 a0001c0001t0002g0098 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0029 a0001c0001t0002g0098 a0001c0001t0003g0136 a0002c0002t0002g0020 a0005c0006t0002g0027 a0005c0006t0002g0075 a0007c0007t0002g0016	9	430	0.0209	38	c.-10 others(49): Show c.-1057_-1056insCACACACACACACACACACACACACACACACACA CACA	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		891		chr17	TogoVar
CEP57L1_chr6_109090507_109179418	109174099	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0029 a0001c0007t0029	a0001c0007t0029g0005 a0001c0007t0029g0005	1	228	0.0044	38	c.11 others(51): Show c.11144_*11145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	11/11	11145	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04199.hp2 HG04184.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0280 a0002c0002t0001g0242 a0002c0002t0001g0280	2	322	0.0062	38	c.555 others(55): Show c.555+1264_555+1265insATATATATATATATATATATATATATAT ATATGTATAT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0258 a0002c0002t0001g0258	1	322	0.0031	38	c.555 others(55): Show c.555+1264_555+1265insATATATATATATATATATATATATATAT ATGTATATAT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP72_chr5_607340_658553	650229	G G	GACTTGAG others(31): Show GACTTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18942.hp1 HG01981.hp2 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0084 a0002c0002t0001g0074 a0002c0002t0001g0084	2	91	0.0220	38	c.177 others(57): Show c.1778+2313_1778+2314insACTTGAGGTGTGACTGTGAGGCGTGG ACTGTGAGGCGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(31): Show GGGGGGGGGGGGGGGGGGGGGGGGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0182 a0002c0002t0030g0182	1	302	0.0033	38	c.232 others(57): Show c.232+32152_232+32153insACACACACACACACCCCCCCCCCCCC CCCCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26283738	T T	TTTGCCTT others(31): Show TTTGCCTTTCGAGGGGACGAGGAGGCCTGAGAAACAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	342	0.0029	38	c.64 others(49): Show c.6445_*6446insTTGCCTTTCGAGGGGACGAGGAGGCCTGAGAAAC AAGG	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		4931		chr1	TogoVar
CEP97_chr3_101719614_101775562	101723399	C C	CATATATA others(31): Show CATATATAATATATAATATATAAATATATAACATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0144 a0001c0001t0017g0144	1	352	0.0028	38	c.-12 others(49): Show c.-1278_-1277insATATATAATATATAATATATAAATATATAACATA TATA	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1214		chr3	TogoVar
CERKL_chr2_181531672_181662105	181606476	A A	AGAGGAGA others(31): Show AGAGGAGAGGGTAGGGGAGAGGAGGGGGAGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	298	0.0034	38	c.239 others(55): Show c.239-2398_239-2397insCCCCCTCCCCTCCCCCTCCTCTCCCCTA CCCTCTCCTC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS3_chr15_100395395_100533950	100466811	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02896.hp2 HG03225.hp2 others(1): Show HG02074.hp2 HG02896.hp2 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0240 a0001c0001t0002g0260 others(1): Show a0001c0001t0002g0204 a0001c0001t0002g0240 a0001c0001t0002g0260 a0001c0001t0002g0265	4	362	0.0111	38	c.845 others(55): Show c.845+2566_845+2567insAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAGAGAGAGA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466815	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp2 HG02280.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0253 a0001c0001t0002g0111 a0001c0001t0002g0253	2	362	0.0055	38	c.845 others(55): Show c.845+2562_845+2563insAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAGAGAGAGA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	418	0.0024	38	c.-1- others(55): Show c.-1-19203_-1-19202insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS5_chr12_50124289_50172369	50156420	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02145.hp2 HG02630.hp2 others(1): Show HG00738.hp1 HG02145.hp2 HG02630.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010	a0001c0001t0004g0096 a0001c0001t0005g0194 a0001c0001t0007g0170 others(1): Show a0001c0001t0004g0096 a0001c0001t0005g0194 a0001c0001t0007g0170 a0001c0001t0010g0092	4	320	0.0125	38	c.197 others(57): Show c.197+10680_197+10681insTATATATATATATATATATATATATA TATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS5_chr12_50124289_50172369	50156437	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03471.hp2 HG06807.hp1 others(1): Show HG01175.hp1 HG03471.hp2 HG06807.hp1 NA18963.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0010 a0002c0003t0003 a0001c0001t0005 a0001c0001t0010 a0002c0003t0003	a0001c0001t0005g0019 a0001c0001t0010g0209 a0002c0003t0003g0027 others(1): Show a0001c0001t0005g0019 a0001c0001t0010g0209 a0002c0003t0003g0027 a0002c0003t0003g0032	4	320	0.0125	38	c.197 others(57): Show c.197+10663_197+10664insTTATATATATATATATATATATATAT ATATATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168559733	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG01496.hp1 others(5): Show HG01261.hp1 HG01261.hp2 HG01496.hp1 HG02055.hp1 HG02280.hp1 HG03239.hp1 NA18971.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0027 a0001c0001t0001g0132 a0001c0001t0004g0014 others(5): Show a0001c0001t0001g0027 a0001c0001t0001g0132 a0001c0001t0004g0014 a0001c0001t0004g0067 a0001c0001t0004g0135 a0001c0001t0005g0020 a0001c0001t0008g0165 a0001c0001t0009g0039	8	176	0.0455	38	c.277 others(55): Show c.277-1459_277-1458insTATATATATATATATATATATATATATA TATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(31): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0022 a0022	a0022c0067 a0022c0067	a0022c0067t0003 a0022c0067t0003	a0022c0067t0003g0100 a0022c0067t0003g0100	1	449	0.0022	38	c.112 others(57): Show c.1126-1504_1126-1503insAAAAAAAAAAGAAAAAAAAAAAAGAA AGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP206_chr6_87402972_87469465	87408455	T T	TGCGCACA others(31): Show TGCGCACACAGATCCGGAGCGCGCACACAGATCCGGAGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01257.hp1 others(27): Show HG00438.hp2 HG00558.hp1 HG01257.hp1 HG01993.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02165.hp1 HG02976.hp1 HG03471.hp1 HG04115.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18950.hp1 NA18961.hp1 NA18967.hp1 NA18980.hp1 NA18989.hp2 NA18990.hp2 NA19000.hp2 NA19005.hp2 NA19058.hp1 NA19066.hp1 NA19070.hp1 NA19075.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0012c0015 a0001c0001 a0001c0003 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0012c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0204 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0224 a0012c0015t0001g0220	30	376	0.0798	38	c.-6+ others(51): Show c.-6+484_-6+521dupCACACAGATCCGGAGCGCGCACACAGATCCGG AGCGCG	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP206_chr6_87402972_87469465	87408543	T T	TCCGGAGC others(31): Show TCCGGAGCGCGCACACAGATCCGGAGCGCGCACACAGAC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	376	0.0027	38	c.-6+ others(51): Show c.-6+491_-6+492insCCCGGAGCGCGCACACAGATCCGGAGCGCGCA CACAGA	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP276_chr1_109100951_109117747	109113451	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	404	0.0025	38	c.-77 others(47): Show c.-773_-772insACTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		705		chr1	TogoVar
CFAP298_chr21_32594354_32617377	32611338	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG02280.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0008 a0001c0001t0015	a0001c0001t0008g0187 a0001c0001t0015g0186 a0001c0001t0008g0187 a0001c0001t0015g0186	2	416	0.0048	38	c.139 others(53): Show c.139+766_139+767insTTATATATATATATATATATATATATATAT ATATATAT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(31): Show AACACACACACCCACACCCACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp2 HG02965.hp2 HG02258.hp1 HG02886.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0001 a0002c0006t0001 a0001c0003t0001 a0002c0006t0001	a0001c0003t0001g0083 a0001c0003t0001g0093 a0002c0006t0001g0088 a0001c0003t0001g0083 a0001c0003t0001g0093 a0002c0006t0001g0088	3	96	0.0313	38	c.242 others(55): Show c.242+1215_242+1216insCCACACCCACACACACACACACACACAC ACACACACAC	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80390756	C C	CATATGTA others(31): Show CATATGTATATATGTATATATACATATACACATATATGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp1 HG01243.hp1 others(10): Show HG01109.hp2 HG01168.hp1 HG01243.hp1 HG02280.hp1 HG02451.hp1 HG02647.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03540.hp2 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0009t0002 a0002c0002t0001 a0002c0006t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0029 others(10): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0003t0001g0035 a0001c0009t0002g0015 a0002c0002t0001g0017 a0002c0002t0001g0028 a0002c0006t0001g0088	13	96	0.1354	38	c.242 others(57): Show c.242+27890_242+27927dupTATACATATACACATATATGTATATG TATATATGTATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334492	C C	CCTCAACC others(31): Show CCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0302 a0001c0002t0002g0302	1	436	0.0023	38	c.144 others(55): Show c.144-1231_144-1230insCGGGGGGGGGGGGTGCGCGTGCCCGCCC AGAGGTTGAG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(31): Show ACCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0297 a0001c0002t0002g0297	1	436	0.0023	38	c.143 others(55): Show c.143+1240_143+1241insGTGCGCGTGCCCGCCCAGAGGTTGAGCG GGGGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(31): Show ACCCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	436	0.0023	38	c.143 others(55): Show c.143+1240_143+1241insGGGGGGTGCGCGTGCCCGCCCAGAGGTT GAGGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(31): Show ACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp2 HG01433.hp1 others(6): Show HG01175.hp1 HG01358.hp2 HG01433.hp1 HG02257.hp2 HG03195.hp2 HG03579.hp1 HG03834.hp1 HG04199.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0002c0004t0002 a0001c0001t0001 a0001c0002t0002 a0002c0004t0002	a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0119 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0119 a0001c0001t0001g0169 a0001c0002t0002g0266 a0002c0004t0002g0247	9	436	0.0206	38	c.143 others(55): Show c.143+1240_143+1241insGGGGGGGTGCGCGTGCCCGCCCAGAGGT TGAGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP46_chr10_132803392_132947570	132826136	A A	AGAGACCA others(31): Show AGAGACCAGCCACGGAGCCAGGCAGGGGCCGGAGCCACG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01069.hp2 HG01257.hp2 others(7): Show HG00544.hp2 HG01069.hp2 HG01257.hp2 HG01261.hp1 HG01884.hp1 HG02145.hp2 HG02559.hp1 HG02630.hp1 NA19004.hp2 NA20905.hp2	a0005 a0009 a0012 others(3): Show a0005 a0009 a0012 a0028 a0070 a0071	a0005c0013 a0009c0043 a0012c0025 others(3): Show a0005c0013 a0009c0043 a0012c0025 a0028c0027 a0070c0074 a0071c0098	a0005c0013t0001 a0009c0043t0001 a0012c0025t0002 others(3): Show a0005c0013t0001 a0009c0043t0001 a0012c0025t0002 a0028c0027t0002 a0070c0074t0002 a0071c0098t0002	a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 others(7): Show a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 a0009c0043t0001g0155 a0012c0025t0002g0007 a0012c0025t0002g0014 a0028c0027t0002g0028 a0028c0027t0002g0077 a0070c0074t0002g0006 a0071c0098t0002g0023	10	246	0.0407	38	c.711 others(57): Show c.7117+7221_7117+7222insCGTGGCTCCGGCCCCTGCCTGGCTCC GTGGCTGGTCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132896074	T T	TGAGAAGG others(31): Show TGAGAAGGCAGCCAGGCTCTGTGTGCCATGAGACACGGC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0052 a0052	a0052c0067 a0052c0067	a0052c0067t0002 a0052c0067t0002	a0052c0067t0002g0013 a0052c0067t0002g0013	1	246	0.0041	38	c.321 others(57): Show c.3219+2884_3219+2885insGCCGTGTCTCATGGCACACAGAGCCT GGCTGCCTTCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132896115	T T	TGAGAAGG others(31): Show TGAGAAGGCAGCCAGGCTCTGTGTGCCATGAGACACGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG01891.hp2 others(9): Show HG01069.hp1 HG01243.hp1 HG01891.hp2 HG02280.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG03453.hp1 HG03486.hp1 NA18906.hp1 NA20300.hp2	a0017 a0021 a0022 others(5): Show a0017 a0021 a0022 a0026 a0049 a0059 a0069 a0074	a0017c0026 a0017c0094 a0021c0016 others(7): Show a0017c0026 a0017c0094 a0021c0016 a0022c0041 a0026c0078 a0026c0081 a0049c0106 a0059c0082 a0069c0070 a0074c0109	a0017c0026t0002 a0017c0094t0001 a0021c0016t0001 others(7): Show a0017c0026t0002 a0017c0094t0001 a0021c0016t0001 a0022c0041t0001 a0026c0078t0002 a0026c0081t0002 a0049c0106t0002 a0059c0082t0002 a0069c0070t0002 a0074c0109t0002	a0017c0026t0002g0097 a0017c0026t0002g0099 a0017c0094t0001g0119 others(9): Show a0017c0026t0002g0097 a0017c0026t0002g0099 a0017c0094t0001g0119 a0021c0016t0001g0170 a0021c0016t0001g0171 a0022c0041t0001g0168 a0026c0078t0002g0033 a0026c0081t0002g0098 a0049c0106t0002g0102 a0059c0082t0002g0100 a0069c0070t0002g0008 a0074c0109t0002g0104	12	246	0.0488	38	c.321 others(57): Show c.3219+2843_3219+2844insGCCGTGTCTCATGGCACACAGAGCCT GGCTGCCTTCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132896147	A A	AAGACATG others(31): Show AAGACATGGTGAGAAGGCAGCCAGGCTCTGTGTGCCATG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0042 a0042	a0042c0053 a0042c0053	a0042c0053t0001 a0042c0053t0001	a0042c0053t0001g0191 a0042c0053t0001g0191	1	246	0.0041	38	c.321 others(57): Show c.3219+2811_3219+2812insCATGGCACACAGAGCCTGGCTGCCTT CTCACCATGTCT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132923231	C C	CGAGCAGC others(31): Show CGAGCAGCCATGTGGGGGTGCCCTGGAACCCCTGGCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(83): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01169.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02886.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18945.hp1 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18980.hp1 NA18983.hp2 NA19056.hp2 NA19062.hp1 NA19067.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0002 a0004 a0005 others(18): Show a0002 a0004 a0005 a0009 a0011 a0013 a0019 a0020 a0023 a0031 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0041 a0042 a0044 a0047	a0002c0002 a0002c0003 a0002c0023 others(31): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0004c0005 a0004c0019 a0004c0038 a0004c0052 a0005c0006 a0005c0013 a0005c0039 a0005c0047 a0009c0018 a0009c0021 a0011c0010 a0013c0022 a0013c0061 a0019c0020 a0020c0017 a0023c0058 a0023c0062 a0031c0065 a0033c0048 a0034c0044 a0035c0057 a0036c0051 a0037c0056 a0038c0037 a0039c0046 a0041c0049 a0042c0053 a0044c0055 a0047c0035	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(32): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0004c0005t0001 a0004c0005t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0005c0006t0001 a0005c0013t0001 a0005c0039t0001 a0005c0047t0001 a0009c0018t0001 a0009c0021t0001 a0011c0010t0001 a0013c0022t0001 a0013c0061t0001 a0019c0020t0001 a0020c0017t0001 a0023c0058t0001 a0023c0062t0001 a0031c0065t0001 a0033c0048t0001 a0034c0044t0001 a0035c0057t0001 a0036c0051t0001 a0037c0056t0001 a0038c0037t0001 a0039c0046t0001 a0041c0049t0001 a0042c0053t0001 a0044c0055t0001 a0047c0035t0001	a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 others(83): Show a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0204 a0002c0045t0001g0200 a0002c0054t0001g0164 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0005c0006t0001g0132 a0005c0006t0001g0133 a0005c0006t0001g0201 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0039t0001g0165 a0005c0047t0001g0216 a0009c0018t0001g0228 a0009c0021t0001g0243 a0009c0021t0001g0244 a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0013c0022t0001g0157 a0013c0022t0001g0158 a0013c0061t0001g0156 a0019c0020t0001g0149 a0019c0020t0001g0150 a0020c0017t0001g0147 a0020c0017t0001g0148 a0023c0058t0001g0154 a0023c0062t0001g0210 a0031c0065t0001g0232 a0033c0048t0001g0224 a0034c0044t0001g0193 a0035c0057t0001g0234 a0036c0051t0001g0180 a0037c0056t0001g0136 a0038c0037t0001g0230 a0039c0046t0001g0144 a0041c0049t0001g0176 a0042c0053t0001g0191 a0044c0055t0001g0183 a0047c0035t0001g0161	86	246	0.3496	38	c.125 others(55): Show c.1257-561_1257-524dupAAGGCCAGGGGTTCCAGGGCACCCCCAC ATGGCTGCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	11/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132923316	A A	ATGTGGGG others(31): Show ATGTGGGGGTGCCCTGGAACCCCTGGCCTTGAGCAGCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0030 a0030	a0030c0066 a0030c0066	a0030c0066t0001 a0030c0066t0001	a0030c0066t0001g0231 a0030c0066t0001g0231	1	246	0.0041	38	c.125 others(55): Show c.1257-609_1257-608insAGGCTGCTCAAGGCCAGGGGTTCCAGGG CACCCCCACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	11/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132923411	A A	ACCCCTGG others(31): Show ACCCCTGGCCTTGAGCAGCCATGTGGGGGTGCCCTGGAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	246	0.0041	38	c.125 others(55): Show c.1257-741_1257-704dupGTCCAGGGCACCCCCACATGGCTGCTCA AGGCCAGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	11/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132923449	C C	CCCCCTGG others(31): Show CCCCCTGGCCTTGAGCAGCCATGTGGGGGTGCCCTGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(117): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18945.hp1 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA19007.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19066.hp2 NA19067.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0002 a0004 a0005 others(38): Show a0002 a0004 a0005 a0009 a0010 a0011 a0012 a0013 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0050 a0051 a0067 a0068 a0069 a0070 a0072 a0074	a0002c0002 a0002c0003 a0002c0023 others(55): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0004c0005 a0004c0019 a0004c0038 a0004c0052 a0005c0006 a0005c0013 a0005c0039 a0005c0047 a0009c0018 a0009c0021 a0009c0043 a0010c0072 a0011c0010 a0012c0025 a0012c0073 a0013c0022 a0013c0061 a0018c0024 a0019c0020 a0020c0017 a0021c0016 a0022c0041 a0022c0042 a0023c0058 a0023c0062 a0024c0036 a0024c0060 a0025c0033 a0030c0066 a0031c0065 a0032c0063 a0033c0048 a0034c0044 a0035c0057 a0036c0051 a0037c0056 a0038c0037 a0039c0046 a0041c0049 a0042c0053 a0043c0040 a0044c0055 a0045c0059 a0046c0064 a0047c0035 a0050c0104 a0051c0105 a0067c0069 a0068c0071 a0069c0070 a0070c0074 a0072c0075 a0074c0109	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(57): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0004c0005t0001 a0004c0005t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0005c0006t0001 a0005c0013t0001 a0005c0039t0001 a0005c0047t0001 a0009c0018t0001 a0009c0021t0001 a0009c0043t0001 a0010c0072t0002 a0011c0010t0001 a0012c0025t0002 a0012c0073t0002 a0013c0022t0001 a0013c0061t0001 a0018c0024t0001 a0019c0020t0001 a0020c0017t0001 a0021c0016t0001 a0022c0041t0001 a0022c0042t0001 a0023c0058t0001 a0023c0062t0001 a0024c0036t0001 a0024c0060t0001 a0025c0033t0001 a0025c0033t0003 a0030c0066t0001 a0031c0065t0001 a0032c0063t0001 a0033c0048t0001 a0034c0044t0001 a0035c0057t0001 a0036c0051t0001 a0037c0056t0001 a0038c0037t0001 a0039c0046t0001 a0041c0049t0001 a0042c0053t0001 a0043c0040t0001 a0044c0055t0001 a0045c0059t0001 a0046c0064t0001 a0047c0035t0001 a0050c0104t0001 a0051c0105t0001 a0067c0069t0002 a0068c0071t0002 a0069c0070t0002 a0070c0074t0002 a0072c0075t0001 a0074c0109t0002	a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 others(117): Show a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0151 a0002c0023t0001g0204 a0002c0045t0001g0200 a0002c0054t0001g0164 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0005c0006t0001g0129 a0005c0006t0001g0132 a0005c0006t0001g0133 a0005c0006t0001g0152 a0005c0006t0001g0153 a0005c0006t0001g0201 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 a0005c0039t0001g0165 a0005c0047t0001g0216 a0009c0018t0001g0172 a0009c0018t0001g0228 a0009c0021t0001g0243 a0009c0021t0001g0244 a0009c0043t0001g0155 a0010c0072t0002g0004 a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0012c0025t0002g0007 a0012c0025t0002g0014 a0012c0073t0002g0005 a0013c0022t0001g0157 a0013c0022t0001g0158 a0013c0061t0001g0156 a0018c0024t0001g0211 a0018c0024t0001g0212 a0019c0020t0001g0149 a0019c0020t0001g0150 a0020c0017t0001g0147 a0020c0017t0001g0148 a0021c0016t0001g0170 a0021c0016t0001g0171 a0022c0041t0001g0168 a0022c0042t0001g0166 a0023c0058t0001g0154 a0023c0062t0001g0210 a0024c0036t0001g0169 a0024c0060t0001g0173 a0025c0033t0001g0238 a0025c0033t0003g0237 a0030c0066t0001g0231 a0031c0065t0001g0232 a0032c0063t0001g0213 a0033c0048t0001g0224 a0034c0044t0001g0193 a0035c0057t0001g0234 a0036c0051t0001g0180 a0037c0056t0001g0136 a0038c0037t0001g0230 a0039c0046t0001g0144 a0041c0049t0001g0176 a0042c0053t0001g0191 a0043c0040t0001g0174 a0044c0055t0001g0183 a0045c0059t0001g0167 a0046c0064t0001g0214 a0047c0035t0001g0161 a0050c0104t0001g0236 a0051c0105t0001g0239 a0067c0069t0002g0015 a0068c0071t0002g0003 a0069c0070t0002g0008 a0070c0074t0002g0006 a0072c0075t0001g0235 a0074c0109t0002g0104	120	246	0.4878	38	c.125 others(55): Show c.1257-779_1257-742dupTTCCAGGGCACCCCCACATGGCTGCTCA AGGCCAGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	11/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35923871	A A	ATGTATAT others(31): Show ATGTATATATGTACATATATATGTGTATATATGTACATG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	216	0.0046	38	c.250 others(55): Show c.250-2088_250-2051dupATGTGTATATATGTACATGTGTATATAT GTACATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631024	A A	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0288 a0001c0002t0001g0288	1	316	0.0032	38	c.117 others(57): Show c.1175-1861_1175-1860insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAAAGA others(31): Show AAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0282 a0001c0002t0001g0282	1	316	0.0032	38	c.117 others(57): Show c.1175-1857_1175-1856insAAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0040 a0002c0001t0001g0040	1	316	0.0032	38	c.117 others(57): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	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(31): Show GAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	316	0.0032	38	c.117 others(57): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGA	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(31): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0019 a0002c0001t0001g0019	1	316	0.0032	38	c.117 others(57): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGA	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(31): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	316	0.0032	38	c.117 others(57): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA AAGAAAGAAAGA	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(31): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19012.hp1 HG02280.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0307 a0001c0002t0001g0218 a0001c0002t0001g0307	2	316	0.0063	38	c.117 others(57): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAAAGA	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(31): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0235	1	316	0.0032	38	c.117 others(57): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP54_chr12_96484577_96880555	96664759	A A	ATATATAT others(31): Show ATATATATATATCTATATATATATATATCTATATATATC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0027 a0008c0009t0001g0027	1	268	0.0037	38	c.556 others(55): Show c.5563+832_5563+833insATATATCTATATATATATATATCTATAT ATATCTATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP57_chr1_43167330_43259358	43180223	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02895.hp2 HG02897.hp2 others(2): Show HG02293.hp2 HG02895.hp2 HG02897.hp2 HG03225.hp2 HG03688.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0012 a0002c0005t0001g0019 a0002c0005t0001g0020 others(2): Show a0002c0005t0001g0012 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0073 a0002c0005t0001g0074	5	308	0.0162	38	c.158 others(55): Show c.158-1295_158-1294insTATATATATATATATATATATATATATA TATATATATA	CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP61_chr20_20047532_20365698	20320327	T T	TATATATA others(31): Show TATATATATTATATATATGTAATATATATAATATATGTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01978.hp1 HG02071.hp2 others(8): Show HG01257.hp1 HG01978.hp1 HG02071.hp2 HG02293.hp1 NA18942.hp2 NA18945.hp2 NA18951.hp1 NA18955.hp2 NA18981.hp2 NA19007.hp1 NA19010.hp2	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0020	a0001c0001 a0002c0002 a0014c0031 others(1): Show a0001c0001 a0002c0002 a0014c0031 a0020c0040	a0001c0001t0002 a0002c0002t0002 a0014c0031t0002 others(1): Show a0001c0001t0002 a0002c0002t0002 a0014c0031t0002 a0020c0040t0002	a0001c0001t0002g0035 a0001c0001t0002g0067 a0001c0001t0002g0145 others(8): Show a0001c0001t0002g0035 a0001c0001t0002g0067 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0193 a0002c0002t0002g0182 a0014c0031t0002g0043 a0020c0040t0002g0160	11	236	0.0466	38	c.342 others(59): Show c.3423-21459_3423-21422dupATTATATATATGTAATATATATAA TATATGTAATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20337584	G G	GGGTGGGT others(31): Show GGGTGGGTGGGTGGATGGATGGATAGATGGGTGGGTGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01934.hp1 HG01943.hp2 HG01261.hp2 HG01934.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0180 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0180	3	236	0.0127	38	c.342 others(57): Show c.3423-4247_3423-4246insGGTGGGTGGGTGGATGGATGGATAGA TGGGTGGGTGGA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar

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