Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CFAP206_chr6_87402972_87469465	87447951	T T	TTTATTAT others(23): Show TTTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18960.hp2 NA18957.hp1 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	2	376	0.0053	30	c.149 others(51): Show c.1494+12916_1494+12917insTTATTATTATTATTATTATTATTA TTATTA		CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP210_chr2_169640425_169699405	169653029	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATAAAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	390	0.0026	30	c.959 others(47): Show c.959+1045_959+1046insATTTATATATATATTTTTTTTTTTTTTT TT		CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8						chr2	TogoVar
CFAP251_chr12_121913592_122008919	121928625	T T	TGTATATA others(23): Show TGTATATATATACGTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02738.hp1 HG00140.hp2 HG02738.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0047 a0004c0002t0001g0053 a0004c0002t0001g0047 a0004c0002t0001g0053	2	354	0.0057	30	c.748 others(47): Show c.748-3092_748-3091insCGTATATATATACGTATATATATATATA TA		CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121978393	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0058 a0003c0009t0001g0058	1	354	0.0028	30	c.300 others(49): Show c.3006+2736_3006+2737insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP276_chr1_109100951_109117747	109113451	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA19009.hp2 HG02027.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0011 a0001c0001t0001g0032	2	404	0.0050	30	c.-77 others(39): Show c.-773_-772insACTCCCTCTCTCTCTCTCTCTCTCTCTCTC		CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding					705		chr1	TogoVar
CFAP298_chr21_32594354_32617377	32611318	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03490.hp2 HG01099.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0008 a0001c0001t0017	a0001c0001t0008g0078 a0001c0001t0017g0079 a0001c0001t0008g0078 a0001c0001t0017g0079	2	416	0.0048	30	c.139 others(45): Show c.139+786_139+787insATATATATATATATATATATATATATATAT		CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6						chr21	TogoVar
CFAP298_chr21_32594354_32617377	32611338	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03453.hp1 HG02818.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0200 a0001c0001t0015g0189 a0001c0001t0001g0200 a0001c0001t0015g0189	2	416	0.0048	30	c.139 others(45): Show c.139+766_139+767insTTATATATATATATATATATATATATATAT		CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6						chr21	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02615.hp2 HG02895.hp2 others(11): Show HG00408.hp2 HG02615.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 NA18906.hp1 NA18998.hp2 NA19005.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 a0002c0006t0001 a0002c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0031 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0002g0030 a0001c0004t0001g0065 a0001c0004t0001g0066 a0002c0002t0001g0001 a0002c0002t0001g0067 a0002c0006t0001g0034 a0002c0007t0001g0047	14	96	0.1458	30	c.242 others(47): Show c.242+1234_242+1235insCACACACACACACACACACACACACACA CA		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(23): Show AACACACACACCCACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0082 a0002c0006t0001g0082	1	96	0.0104	30	c.242 others(47): Show c.242+1215_242+1216insCCACACACACACACACACACACACACAC AC		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80364089	A A	AACACACA others(23): Show AACACACACACCCACACCCACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0092 a0001c0003t0002g0092	1	96	0.0104	30	c.242 others(47): Show c.242+1215_242+1216insCCACACCCACACACACACACACACACAC AC		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80581464	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0092 a0001c0003t0002g0092	1	96	0.0104	30	c.243 others(47): Show c.243-1604_243-1603insATATGTATATATATATATATATATATAT AT		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334518	C C	CCCCCCCT others(23): Show CCCCCCCTCAACCTCTGGGCGGGCACGCGCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG02040.hp1 others(5): Show HG00323.hp2 HG01070.hp1 HG02040.hp1 HG02683.hp1 HG03831.hp1 HG03834.hp2 NA19088.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0003 a0001c0001 a0001c0002 a0003c0003	a0001c0001t0001 a0001c0002t0002 a0003c0003t0002 a0001c0001t0001 a0001c0002t0002 a0003c0003t0002	a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0163 others(4): Show a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0163 a0001c0001t0001g0195 a0001c0002t0002g0230 a0003c0003t0002g0047 a0003c0003t0002g0281	8	436	0.0184	30	c.143 others(47): Show c.143+1239_143+1240insTGCGCGTGCCCGCCCAGAGGTTGAGGGG GG		CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6						chr21	TogoVar
CFAP46_chr10_132803392_132947570	132813508	T T	TCCCTGCA others(23): Show TCCCTGCACACACCTGCCCCTGCAGCCCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(27): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG01099.hp2 HG01346.hp1 HG01517.hp2 HG01952.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02602.hp2 HG02683.hp2 HG02717.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp2 HG03710.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18940.hp2 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA20300.hp1	a0000 a0004 a0008 others(9): Show a0000 a0004 a0008 a0009 a0010 a0011 a0015 a0019 a0029 a0041 a0057 a0062	a0000c0087 a0004c0005 a0008c0009 others(9): Show a0000c0087 a0004c0005 a0008c0009 a0009c0018 a0010c0072 a0011c0010 a0015c0015 a0019c0020 a0029c0100 a0041c0049 a0057c0088 a0062c0093	a0000c0087t0002 a0004c0005t0001 a0004c0005t0002 others(11): Show a0000c0087t0002 a0004c0005t0001 a0004c0005t0002 a0008c0009t0001 a0008c0009t0002 a0009c0018t0001 a0010c0072t0002 a0011c0010t0001 a0015c0015t0002 a0019c0020t0001 a0029c0100t0002 a0041c0049t0001 a0057c0088t0002 a0062c0093t0001	a0000c0087t0002g0112 a0004c0005t0001g0220 a0004c0005t0001g0221 others(27): Show a0000c0087t0002g0112 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0008c0009t0001g0120 a0008c0009t0001g0122 a0008c0009t0001g0123 a0008c0009t0001g0124 a0008c0009t0002g0101 a0009c0018t0001g0172 a0009c0018t0001g0228 a0010c0072t0002g0004 a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0015c0015t0002g0044 a0015c0015t0002g0061 a0015c0015t0002g0063 a0019c0020t0001g0149 a0019c0020t0001g0150 a0029c0100t0002g0019 a0041c0049t0001g0176 a0057c0088t0002g0042 a0062c0093t0001g0121	30	246	0.1220	30	c.738 others(47): Show c.7389-612_7389-611insGTGGGGCTGCAGGGGCAGGTGTGTGCAG GG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132813508	T T	TCCCTGCA others(23): Show TCCCTGCACACACCTGCCCCTGCAGCCCCGC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02698.hp1 HG02074.hp1 HG02698.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0050 a0007c0008t0002g0095 a0007c0008t0002g0050 a0007c0008t0002g0095	2	246	0.0081	30	c.738 others(47): Show c.7388+614_7389-612dupGCGGGGCTGCAGGGGCAGGTGTGTGCAG GG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132813657	G G	GCCCCTGC others(23): Show GCCCCTGCACACACCTGCCCCTGCAGCCCCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02486.hp1 HG01261.hp1 HG02486.hp1	a0008 a0009 a0008 a0009	a0008c0097 a0009c0043 a0008c0097 a0009c0043	a0008c0097t0001 a0009c0043t0001 a0008c0097t0001 a0009c0043t0001	a0008c0097t0001g0118 a0009c0043t0001g0155 a0008c0097t0001g0118 a0009c0043t0001g0155	2	246	0.0081	30	c.738 others(47): Show c.7388+494_7388+495insTGGGGCTGCAGGGGCAGGTGTGTGCAGG GG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132813687	G G	GCCCCTGC others(23): Show GCCCCTGCACACACCTGCCCCTGCAGCCCCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA20129.hp2 HG00438.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0047 a0001c0001 a0005c0047	a0001c0001t0002 a0005c0047t0001 a0001c0001t0002 a0005c0047t0001	a0001c0001t0002g0047 a0005c0047t0001g0216 a0001c0001t0002g0047 a0005c0047t0001g0216	2	246	0.0081	30	c.738 others(47): Show c.7388+464_7388+465insTGGGGCTGCAGGGGCAGGTGTGTGCAGG GG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888364	A A	ACCCCGCC others(23): Show ACCCCGCCACCTTCACCCCTGCCGCCTGCAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0070 a0070	a0070c0074 a0070c0074	a0070c0074t0002 a0070c0074t0002	a0070c0074t0002g0006 a0070c0074t0002g0006	1	246	0.0041	30	c.330 others(49): Show c.3305-2406_3305-2405insGTGCAGGCGGCAGGGGTGAAGGTGGC GGGG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888375	T T	TCACCCCT others(23): Show TCACCCCTGCCACCTTCACCCCTGCCGCCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0066 a0066	a0066c0077 a0066c0077	a0066c0077t0001 a0066c0077t0001	a0066c0077t0001g0127 a0066c0077t0001g0127	1	246	0.0041	30	c.330 others(49): Show c.3305-2417_3305-2416insCAGGCGGCAGGGGTGAAGGTGGCAGG GGTG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888564	G G	GCACCCCT others(23): Show GCACCCCTGCCGCCTGCACCCCTGCCGCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00597.hp1 others(40): Show HG00140.hp1 HG00140.hp2 HG00597.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02451.hp2 HG02647.hp2 HG03239.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18940.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18952.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18980.hp2 NA19004.hp1 NA19007.hp1 NA19067.hp2 NA20129.hp2 NA20805.hp2	a0001 a0005 a0006 others(11): Show a0001 a0005 a0006 a0007 a0020 a0039 a0050 a0054 a0055 a0056 a0057 a0058 a0060 a0073	a0001c0001 a0001c0029 a0001c0096 others(14): Show a0001c0001 a0001c0029 a0001c0096 a0005c0039 a0005c0047 a0006c0004 a0007c0008 a0020c0017 a0039c0046 a0050c0104 a0054c0091 a0055c0086 a0056c0089 a0057c0088 a0058c0090 a0060c0084 a0073c0108	a0001c0001t0002 a0001c0029t0002 a0001c0096t0002 others(14): Show a0001c0001t0002 a0001c0029t0002 a0001c0096t0002 a0005c0039t0001 a0005c0047t0001 a0006c0004t0002 a0007c0008t0002 a0020c0017t0001 a0039c0046t0001 a0050c0104t0001 a0054c0091t0002 a0055c0086t0002 a0056c0089t0001 a0057c0088t0002 a0058c0090t0002 a0060c0084t0002 a0073c0108t0002	a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0036 others(40): Show a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0115 a0001c0029t0002g0009 a0001c0029t0002g0010 a0001c0096t0002g0035 a0005c0039t0001g0165 a0005c0047t0001g0216 a0006c0004t0002g0109 a0006c0004t0002g0110 a0006c0004t0002g0116 a0007c0008t0002g0025 a0007c0008t0002g0050 a0007c0008t0002g0069 a0007c0008t0002g0075 a0020c0017t0001g0147 a0020c0017t0001g0148 a0039c0046t0001g0144 a0050c0104t0001g0236 a0054c0091t0002g0026 a0055c0086t0002g0020 a0056c0089t0001g0117 a0057c0088t0002g0042 a0058c0090t0002g0043 a0060c0084t0002g0053 a0073c0108t0002g0094	43	246	0.1748	30	c.330 others(49): Show c.3305-2606_3305-2605insAAGGCGGCAGGGGTGCAGGCGGCAGG GGTG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888667	T T	TCACCCCT others(23): Show TCACCCCTGCCGCCTTCACCCCTGCCGCCTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0070 a0070	a0070c0074 a0070c0074	a0070c0074t0002 a0070c0074t0002	a0070c0074t0002g0006 a0070c0074t0002g0006	1	246	0.0041	30	c.330 others(49): Show c.3305-2709_3305-2708insCAGGCGGCAGGGGTGAAGGCGGCAGG GGTG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132931826	C C	CCTCCCCA others(23): Show CCTCCCCACACAGAGCCTGGGCCTCCTTACA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0052 a0052	a0052c0067 a0052c0067	a0052c0067t0002 a0052c0067t0002	a0052c0067t0002g0013 a0052c0067t0002g0013	1	246	0.0041	30	c.867 others(47): Show c.867-2023_867-2022insTGTAAGGAGGCCCAGGCTCTGTGTGGGG AG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132931827	T T	TTCCCCAC others(23): Show TTCCCCACACAGAGCCTGGGCCTCCTTACAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0053 a0053	a0053c0068 a0053c0068	a0053c0068t0002 a0053c0068t0002	a0053c0068t0002g0012 a0053c0068t0002g0012	1	246	0.0041	30	c.867 others(47): Show c.867-2053_867-2024dupGTGTAAGGAGGCCCAGGCTCTGTGTGGG GA		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57						chr10	TogoVar
CFAP47_chrX_35914734_36390317	35923866	C C	CATATATG others(23): Show CATATATGTATATATGTACATATATATGTGT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0124 a0001c0019t0001g0124	1	216	0.0046	30	c.250 others(47): Show c.250-2141_250-2112dupTATATGTACATATATATGTGTATATATG TA		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35924298	C C	CATATGTG others(23): Show CATATGTGCACATATGTGTATAGGTGTACAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp1 HG02886.hp2 HG03041.hp1	a0011 a0014 a0011 a0014	a0011c0054 a0014c0016 a0011c0054 a0014c0016	a0011c0054t0001 a0014c0016t0001 a0011c0054t0001 a0014c0016t0001	a0011c0054t0001g0201 a0014c0016t0001g0193 a0011c0054t0001g0201 a0014c0016t0001g0193	2	216	0.0093	30	c.250 others(47): Show c.250-1718_250-1717insTATGTGCACATATGTGTATAGGTGTACA TA		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35960380	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0002 a0018c0022t0001g0002	1	216	0.0046	30	c.141 others(49): Show c.1410+4211_1410+4212insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371700	A A	ATGTGTAT others(23): Show ATGTGTATATATGTGTGTATATACACACATG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0001 a0013c0011t0001	a0013c0011t0001g0167 a0013c0011t0001g0167	1	216	0.0046	30	c.918 others(49): Show c.9185+4614_9185+4643dupTGTGTGTATATACACACATGTGTGTA TATA		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371924	G G	GTATATAC others(23): Show GTATATACACACATGTGTATATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0025 a0004c0003t0001g0025	1	216	0.0046	30	c.918 others(49): Show c.9185+4833_9185+4862dupACACACATGTGTATATGTGTGTGTAT ATAT		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18970.hp2 HG01433.hp1 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0127 a0001c0002t0001g0048 a0001c0002t0001g0127	2	316	0.0063	30	c.117 others(49): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631044	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0254 a0002c0001t0001g0254	1	316	0.0032	30	c.117 others(49): Show c.1175-1843_1175-1842insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA		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(23): Show GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG01884.hp2 HG02109.hp2	a0002 a0002	a0002c0001 a0002c0011 a0002c0001 a0002c0011	a0002c0001t0001 a0002c0011t0001 a0002c0001t0001 a0002c0011t0001	a0002c0001t0001g0223 a0002c0011t0001g0277 a0002c0001t0001g0223 a0002c0011t0001g0277	2	316	0.0063	30	c.117 others(49): Show c.1175-1833_1175-1832insGAGAGAAAGAAAGAAAGAAAGAAAGA AAGA		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(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18998.hp1 NA19006.hp2 others(1): Show NA18977.hp2 NA18998.hp1 NA19006.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0238 a0001c0002t0001g0296 a0001c0002t0001g0301 others(1): Show a0001c0002t0001g0238 a0001c0002t0001g0296 a0001c0002t0001g0301 a0001c0002t0001g0311	4	316	0.0127	30	c.117 others(49): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAAAGA AAGA		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(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02738.hp1 others(1): Show HG02572.hp1 HG02572.hp2 HG02738.hp1 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0021 a0001c0002t0001g0045 a0001c0002t0001g0073 others(1): Show a0001c0002t0001g0021 a0001c0002t0001g0045 a0001c0002t0001g0073 a0002c0001t0001g0028	4	316	0.0127	30	c.117 others(49): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA AAGA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	402	0.0025	30	c.131 others(49): Show c.1316+1273_1316+1274insATATATATATATATATATATTTTTTT TTTT		CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7						chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	402	0.0025	30	c.131 others(49): Show c.1316+1273_1316+1274insATATATATATATATATATATATTTTT TTTT		CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7						chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19007.hp1 NA19058.hp1 others(1): Show NA18957.hp1 NA19007.hp1 NA19058.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0259 a0002c0002t0001g0008 a0002c0002t0001g0035 a0001c0001t0001g0259 a0002c0002t0001g0008 a0002c0002t0001g0035	4	402	0.0100	30	c.131 others(49): Show c.1316+1273_1316+1274insATATATATATATATATATATATATTT TTTT		CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7						chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02273.hp1 HG01975.hp1 HG02273.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0262 a0002c0002t0001g0135 a0001c0001t0001g0262 a0002c0002t0001g0135	2	402	0.0050	30	c.131 others(49): Show c.1316+1273_1316+1274insATATATATATATATATATATATATAT TTTT		CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7						chr18	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0083 a0001c0001t0001g0094	2	402	0.0050	30	c.131 others(49): Show c.1316+1273_1316+1274insATATATATATATATATATATATATAT ATTT		CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7						chr18	TogoVar
CFAP54_chr12_96484577_96880555	96486137	T T	TTTTCTTT others(23): Show TTTTCTTTTCTTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0127 a0002c0003t0001g0127	1	268	0.0037	30	c.-34 others(41): Show c.-3473_-3472insTTTCTTTTCTTTTCTTTCTTTCTTTCTTTC		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding					3439		chr12	TogoVar
CFAP57_chr1_43167330_43259358	43180223	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0018 a0002c0012t0001g0018	1	308	0.0033	30	c.158 others(47): Show c.158-1295_158-1294insTATATATATATATATATATATATATATA TA		CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP68_chr11_111874541_111890975	111886726	A A	ATATATAT others(23): Show ATATATATATATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	30	c.28 others(41): Show c.2846_*2847insTATATATATATGTATGTATGTATATGTATG		CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding					752		chr11	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATAT others(23): Show ATATATATATATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG01167.hp2 others(15): Show HG00408.hp1 HG00609.hp2 HG01167.hp2 HG02004.hp2 HG02074.hp1 HG03654.hp2 HG03704.hp1 NA18947.hp2 NA18957.hp1 NA18968.hp1 NA18972.hp1 NA18978.hp2 NA18999.hp1 NA19064.hp2 NA19070.hp2 NA19077.hp2 NA19088.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0018 a0002c0003t0001 a0001c0001t0001 a0001c0001t0018 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0018g0001 a0002c0003t0001g0001 a0001c0001t0001g0001 a0001c0001t0018g0001 a0002c0003t0001g0001	18	392	0.0459	30	c.28 others(41): Show c.2882_*2883insTATATATATATGTATGTATGTATATGTATG		CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding					788		chr11	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATAT others(23): Show ATATATATGTATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18981.hp1 NA19010.hp2 NA18948.hp1 NA18981.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	392	0.0077	30	c.28 others(41): Show c.2882_*2883insTATATATGTATGTATGTATGTATATGTATG		CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding					788		chr11	TogoVar
CFAP70_chr10_73248762_73363864	73362980	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0006 a0003c0003t0002g0006	1	220	0.0046	30	c.-42 others(41): Show c.-4243_-4242insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding					4117		chr10	TogoVar
CFAP74_chr1_1916957_2008786	1923415	C C	CGGGCACG others(23): Show CGGGCACGTCCAGGGGGTCAGAGACTCCACG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00609.hp1 HG00609.hp1	a0041 a0041	a0041c0079 a0041c0079	a0041c0079t0001 a0041c0079t0001	a0041c0079t0001g0274 a0041c0079t0001g0274	1	278	0.0036	30	c.447 others(39): Show c.4473_4474insCGTGGAGTCTCTGACCCCCTGGACGTGCCC	p.Pro others(45): Show p.Pro1491_Val1492insArgGlyValSerAspProLeuAspValPro	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	36/39	4578/5355	4473/4920	1491/1639			chr1	TogoVar
CFAP77_chr9_132405211_132578319	132438541	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	322	0.0031	30	c.195 others(49): Show c.195+28076_195+28077insATATATATATATATATATATATATAT TTTT		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132482961	A A	ATAATTAT others(23): Show ATAATTATTATAAATTATTATAAATTATTAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	322	0.0031	30	c.196 others(49): Show c.196-15734_196-15733insTAATTATTATAAATTATTATAAATTA TTAT		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5						chr9	TogoVar
CFAP92_chr3_128904873_128999076	128932378	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 NA19030.hp2 HG02055.hp2 HG02258.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0321 a0002c0004t0002g0323 a0002c0004t0002g0324 a0002c0004t0002g0321 a0002c0004t0002g0323 a0002c0004t0002g0324	3	342	0.0088	30	c.275 others(47): Show c.2751+321_2751+322insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT		CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	12/15						chr3	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01361.hp1 HG01515.hp1 others(3): Show HG00438.hp2 HG01361.hp1 HG01515.hp1 HG02148.hp1 HG02717.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0206 a0001c0001t0001g0242 a0001c0001t0001g0352 others(3): Show a0001c0001t0001g0206 a0001c0001t0001g0242 a0001c0001t0001g0352 a0001c0001t0003g0363 a0001c0002t0001g0288 a0001c0002t0004g0287	6	380	0.0158	30	c.153 others(47): Show c.153-3349_153-3320dupATATATATATATATATATATATATATAT AT		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02258.hp2 NA18954.hp2 others(1): Show HG00642.hp2 HG02258.hp2 NA18954.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0001g0318 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0001g0318 a0003c0004t0001g0093	4	380	0.0105	30	c.153 others(47): Show c.153-3352_153-3351insTTATATATATATATATATATATATATAT AT		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843491	T T	TCCTCCTC others(23): Show TCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	380	0.0026	30	c.153 others(47): Show c.153-1001_153-1000insCCCCCCCTCCTCCTCCCCCCCTCCTCCT CC		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar

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