Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP65_chr2_218997846_219046516	219022077	C C	CTTCCCTC others(13): Show CTTCCCTCCCACCTTGGGAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02622.hp1 others(2): Show HG01884.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02886.hp2	a0016 a0024 a0028 others(1): Show a0016 a0024 a0028 a0029	a0016c0055 a0016c0056 a0024c0046 others(2): Show a0016c0055 a0016c0056 a0024c0046 a0028c0058 a0029c0047	a0016c0055t0001 a0016c0056t0001 a0024c0046t0001 others(2): Show a0016c0055t0001 a0016c0056t0001 a0024c0046t0001 a0028c0058t0001 a0029c0047t0001	a0016c0055t0001g0154 a0016c0056t0001g0043 a0024c0046t0001g0171 others(2): Show a0016c0055t0001g0154 a0016c0056t0001g0043 a0024c0046t0001g0171 a0028c0058t0001g0031 a0029c0047t0001g0172	5	322	0.0155	20	c.297 others(35): Show c.2979+74_2979+93dupCCTCCCAAGGTGGGAGGGAA	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	17/34			chr2	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATATATAT others(13): Show ATATATATATATATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	392	0.0026	20	c.28 others(31): Show c.2882_*2883insTATATATATATATATGTATG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		788		chr11	TogoVar
CFAP68_chr11_111874541_111890975	111886762	A A	ATGTATGT others(13): Show ATGTATGTATGTATATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02896.hp2 NA18945.hp2 others(2): Show HG02602.hp2 HG02896.hp2 NA18945.hp2 NA19076.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	5	392	0.0128	20	c.28 others(31): Show c.2882_*2883insTGTATGTATGTATATGTATG	CFAP68	ENSG00000137720.8	transcript	ENST00000260276.8	protein_coding		788		chr11	TogoVar
CFAP69_chr7_90240174_90316063	90250187	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG04228.hp2 HG01074.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0148 a0001c0002t0002g0149	2	338	0.0059	20	c.120 others(37): Show c.120+4672_120+4691dupGAGAGAGAGAGAGAGAGAGA	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP70_chr10_73248762_73363864	73350316	A A	ATAACATA others(13): Show ATAACATACTTACCTATGTGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(86): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01074.hp1 HG01081.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03834.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18959.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19078.hp1 NA19083.hp2 NA19085.hp2 NA20129.hp1 NA20129.hp2	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0013 a0015	a0002c0002 a0002c0006 a0002c0014 others(9): Show a0002c0002 a0002c0006 a0002c0014 a0003c0003 a0004c0004 a0006c0013 a0007c0012 a0008c0010 a0009c0007 a0010c0015 a0013c0017 a0015c0016	a0002c0002t0001 a0002c0006t0001 a0002c0014t0001 others(9): Show a0002c0002t0001 a0002c0006t0001 a0002c0014t0001 a0003c0003t0002 a0004c0004t0001 a0006c0013t0001 a0007c0012t0001 a0008c0010t0001 a0009c0007t0002 a0010c0015t0001 a0013c0017t0001 a0015c0016t0001	a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0026 others(86): Show a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0006t0001g0016 a0002c0014t0001g0021 a0003c0003t0002g0002 a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0009 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0004c0004t0001g0017 a0004c0004t0001g0018 a0004c0004t0001g0019 a0004c0004t0001g0020 a0004c0004t0001g0027 a0004c0004t0001g0028 a0006c0013t0001g0050 a0007c0012t0001g0023 a0008c0010t0001g0029 a0009c0007t0002g0015 a0010c0015t0001g0054 a0013c0017t0001g0085 a0015c0016t0001g0025	89	220	0.4046	20	c.251 others(37): Show c.251-1796_251-1795insCCACATAGGTAAGTATGTTA	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	3/27			chr10	TogoVar
CFAP74_chr1_1916957_2008786	1935867	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0041 a0012c0015t0001g0041	1	278	0.0036	20	c.301 others(39): Show c.3011+2968_3011+2987dupGTGTGTGTGTGTGTGTGTGT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	25/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1952590	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03139.hp2 HG02818.hp1 HG03139.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0058 a0003c0004t0002g0074 a0003c0004t0002g0058 a0003c0004t0002g0074	2	278	0.0072	20	c.217 others(39): Show c.2176+3081_2176+3100dupCTTTCTTTCTTTCTTTCTTT	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1969184	T T	TGCCCAGC others(13): Show TGCCCAGCCCTGCCCAGCCCA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0020 a0002c0006t0001g0020	1	278	0.0036	20	c.104 others(37): Show c.1047-371_1047-352dupTGGGCTGGGCAGGGCTGGGC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	10/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1971351	A A	ATGCACAC others(13): Show ATGCACACACATGCACACACG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0056 a0056	a0056c0038 a0056c0038	a0056c0038t0004 a0056c0038t0004	a0056c0038t0004g0252 a0056c0038t0004g0252	1	278	0.0036	20	c.889 others(35): Show c.889-536_889-535insCGTGTGTGCATGTGTGTGCA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	9/38			chr1	TogoVar
CFAP77_chr9_132405211_132578319	132559346	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01106.hp2 others(34): Show HG00280.hp1 HG00738.hp2 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01256.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02735.hp1 HG02738.hp1 HG02965.hp1 HG03195.hp1 HG03239.hp2 HG03579.hp1 HG03669.hp1 HG04228.hp2 NA18906.hp1 NA18956.hp1 NA18961.hp2 NA18963.hp2 NA18978.hp2 NA18991.hp1 NA19003.hp2 NA19004.hp2 NA19057.hp1 NA19060.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0003c0009 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0001c0004t0002 a0001c0005t0001 a0002c0003t0001 a0002c0003t0002 a0003c0009t0001 a0006c0016t0002	a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0001t0001g0044 others(34): Show a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0174 a0001c0001t0001g0198 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0292 a0001c0001t0001g0304 a0001c0001t0002g0025 a0001c0001t0011g0054 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0094 a0001c0002t0001g0236 a0001c0004t0002g0317 a0001c0004t0002g0319 a0001c0005t0001g0318 a0002c0003t0001g0084 a0002c0003t0002g0232 a0003c0009t0001g0274 a0006c0016t0002g0214	37	322	0.1149	20	c.733 others(39): Show c.733-13041_733-13022dupAAAAAAAAAAAAAAAAAAAA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP91_chr3_119698022_119772102	119707732	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp2 HG02683.hp2 others(18): Show HG02015.hp1 HG02083.hp2 HG02683.hp2 HG03491.hp2 HG03492.hp2 HG04204.hp1 NA18952.hp1 NA18955.hp2 NA18966.hp1 NA18971.hp1 NA18995.hp2 NA19005.hp2 NA19011.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19078.hp2 NA19082.hp2 NA19088.hp1 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0007 a0006c0010 a0001c0002 a0001c0007 a0006c0010	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(3): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0021 a0001c0007t0008 a0006c0010t0033	a0001c0002t0002g0006 a0001c0002t0002g0065 a0001c0002t0002g0068 others(16): Show a0001c0002t0002g0006 a0001c0002t0002g0065 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0003g0070 a0001c0002t0006g0064 a0001c0002t0006g0066 a0001c0002t0006g0072 a0001c0002t0021g0067 a0001c0007t0008g0005 a0006c0010t0033g0035	21	386	0.0544	20	c.359 others(35): Show c.359+188_359+189insTATATATATATATATATATA	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP91_chr3_119698022_119772102	119738332	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01255.hp2 others(19): Show HG01074.hp2 HG01106.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01517.hp1 HG01978.hp1 HG02027.hp2 HG02300.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG04228.hp2 NA18957.hp1 NA18963.hp2 NA18975.hp1 NA19057.hp1 NA19075.hp2 NA19087.hp2 NA20905.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0019 a0001c0001 a0016c0019	a0001c0001t0001 a0001c0001t0011 a0016c0019t0001 a0001c0001t0001 a0001c0001t0011 a0016c0019t0001	a0001c0001t0001g0009 a0001c0001t0001g0155 a0001c0001t0001g0157 others(18): Show a0001c0001t0001g0009 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0253 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0011g0300 a0001c0001t0011g0303 a0016c0019t0001g0131	22	386	0.0570	20	c.146 others(37): Show c.1461+865_1461+884dupTTTTTTTTTTTTTTTTTTTT	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP92_chr3_128904873_128999076	128931472	C C	CATATATA others(13): Show CATATATATGTATGTATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02055.hp2 HG02056.hp2 others(27): Show HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02683.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03209.hp2 HG03491.hp1 HG03516.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18950.hp2 NA18985.hp2 NA19030.hp2 NA19063.hp1 NA19066.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2	a0002 a0003 a0011 others(2): Show a0002 a0003 a0011 a0012 a0018	a0002c0004 a0003c0006 a0011c0018 others(2): Show a0002c0004 a0003c0006 a0011c0018 a0012c0029 a0018c0026	a0002c0004t0002 a0003c0006t0002 a0011c0018t0002 others(2): Show a0002c0004t0002 a0003c0006t0002 a0011c0018t0002 a0012c0029t0002 a0018c0026t0002	a0002c0004t0002g0008 a0002c0004t0002g0081 a0002c0004t0002g0297 others(26): Show a0002c0004t0002g0008 a0002c0004t0002g0081 a0002c0004t0002g0297 a0002c0004t0002g0298 a0002c0004t0002g0300 a0002c0004t0002g0301 a0002c0004t0002g0302 a0002c0004t0002g0303 a0002c0004t0002g0310 a0002c0004t0002g0311 a0002c0004t0002g0313 a0002c0004t0002g0314 a0002c0004t0002g0316 a0002c0004t0002g0317 a0002c0004t0002g0318 a0002c0004t0002g0319 a0002c0004t0002g0320 a0002c0004t0002g0321 a0002c0004t0002g0323 a0002c0004t0002g0324 a0002c0004t0002g0326 a0003c0006t0002g0180 a0003c0006t0002g0181 a0003c0006t0002g0182 a0003c0006t0002g0183 a0003c0006t0002g0184 a0011c0018t0002g0143 a0012c0029t0002g0185 a0018c0026t0002g0312	30	342	0.0877	20	c.275 others(39): Show c.2751+1227_2751+1228insATATATACATACATATATAT	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	12/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128932378	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03704.hp2 HG02040.hp1 HG03704.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0081 a0002c0004t0002g0311 a0002c0004t0002g0081 a0002c0004t0002g0311	2	342	0.0059	20	c.275 others(37): Show c.2751+321_2751+322insGTGTGTGTGTGTGTGTGTGT	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	12/15			chr3	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01358.hp2 others(17): Show HG00099.hp2 HG01070.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG02074.hp2 HG02145.hp1 HG02647.hp1 HG03139.hp2 HG03669.hp1 HG03927.hp2 HG04184.hp2 NA18522.hp2 NA18967.hp1 NA18980.hp2 NA19001.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0004c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0138 a0001c0001t0001g0220 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0138 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0265 a0001c0001t0001g0301 a0001c0001t0001g0328 a0001c0001t0001g0344 a0001c0001t0001g0354 a0001c0002t0001g0034 a0001c0002t0001g0241 a0001c0002t0001g0260 a0001c0002t0001g0263 a0001c0002t0001g0300 a0001c0002t0001g0329 a0002c0003t0001g0248 a0004c0006t0001g0340	20	380	0.0526	20	c.153 others(37): Show c.153-3339_153-3320dupATATATATATATATATATAT	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(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01975.hp1 NA18961.hp2 others(1): Show HG01106.hp1 HG01975.hp1 NA18961.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0001g0129	4	380	0.0105	20	c.153 others(37): Show c.153-3352_153-3351insTTATATATATATATATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843514	T T	TCCCCCCC others(13): Show TCCCCCCCCTCCTCCTCCCCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	380	0.0026	20	c.153 others(37): Show c.153-1001_153-1000insCCCCCCTCCTCCTCCCCCCC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843514	T T	TCCCCCCC others(13): Show TCCCCCCCTCCTCCTCCCCCC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	380	0.0026	20	c.153 others(37): Show c.153-1001_153-1000insCCCCCTCCTCCTCCCCCCCC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97_chr4_185154665_185209000	185193887	G G	GATAAATA others(13): Show GATAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG01993.hp1 others(16): Show HG01099.hp2 HG01891.hp1 HG01993.hp1 HG02451.hp1 HG02717.hp2 HG03041.hp1 HG03209.hp1 HG03540.hp1 HG03927.hp1 NA18939.hp1 NA18942.hp1 NA18950.hp1 NA18964.hp2 NA18979.hp2 NA19009.hp2 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0189 a0002c0002t0001g0190 others(15): Show a0002c0002t0001g0026 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0224 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0266 a0002c0002t0001g0269 a0002c0002t0001g0277	19	350	0.0543	20	c.-16 others(37): Show c.-16-2695_-16-2676dupTTATTTATTTATTTATTTAT	CFAP97	ENSG00000164323.15	transcript	ENST00000458385.7	protein_coding	1/4			chr4	TogoVar
CFDP1_chr16_75288710_75438503	75297145	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03669.hp1 HG02698.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0279 a0001c0001t0001g0200 a0001c0001t0001g0279	2	314	0.0064	20	c.810 others(37): Show c.810-3104_810-3103insACACACACACACACACACAC	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75297146	T T	TTTTGTGT others(13): Show TTTTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG02559.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0192 a0001c0001t0001g0196	2	314	0.0064	20	c.810 others(37): Show c.810-3105_810-3104insCACACACACACACACACAAA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75303365	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	314	0.0032	20	c.809 others(37): Show c.809+1639_809+1658dupTTTATTTATTTATTTATTTA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75303400	A A	AATGAATG others(13): Show AATGAATGTATGTATGTATGT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	314	0.0032	20	c.809 others(37): Show c.809+1623_809+1624insACATACATACATACATTCAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75303400	A A	AATGTATG others(13): Show AATGTATGTATGTATGTATGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01256.hp2 others(11): Show HG00423.hp1 HG00609.hp1 HG01256.hp2 HG02080.hp1 HG02723.hp2 HG02738.hp2 HG02922.hp2 HG02976.hp1 HG03195.hp1 HG06807.hp1 NA18985.hp2 NA18995.hp1 NA18999.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0197 others(11): Show a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0288 a0001c0001t0001g0298 a0001c0001t0001g0307 a0001c0001t0007g0312	14	314	0.0446	20	c.809 others(37): Show c.809+1604_809+1623dupACATACATACATACATACAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19090.hp1 HG03453.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0291 a0001c0001t0001g0253 a0001c0001t0001g0291	2	314	0.0064	20	c.651 others(39): Show c.651-44501_651-44500insATATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19068.hp1 homoSapiens_chm13v2.hp1 NA18952.hp2 NA19068.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0205 a0001c0001t0001g0231 a0001c0001t0001g0232	3	314	0.0096	20	c.651 others(39): Show c.651-44503_651-44502insATATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 NA19066.hp1 HG02895.hp2 HG02897.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0239 a0001c0001t0001g0297 a0001c0001t0001g0301	3	314	0.0096	20	c.651 others(39): Show c.651-44505_651-44504insATATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	314	0.0032	20	c.651 others(39): Show c.651-44517_651-44516insGTGTGTATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01243.hp2 HG02615.hp2 others(3): Show HG01071.hp1 HG01243.hp2 HG02615.hp2 HG02717.hp1 HG02896.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 others(3): Show a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0002g0159 a0001c0001t0002g0175	6	314	0.0191	20	c.651 others(39): Show c.651-44517_651-44516insGTGTATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA20129.hp2 HG01167.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0122 a0001c0001t0004g0148 a0001c0001t0001g0122 a0001c0001t0004g0148	2	314	0.0064	20	c.651 others(39): Show c.651-44517_651-44516insGTATATATATATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75393737	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	314	0.0032	20	c.650 others(37): Show c.650+1333_650+1352dupTTTTTTTTTTTTTTTTTTTT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFD_chr19_854664_868641	864042	C C	CCACACAC others(13): Show CCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01978.hp2 others(18): Show HG00323.hp1 HG00597.hp2 HG01978.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp2 HG02738.hp1 HG03130.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18969.hp1 NA18969.hp2 NA19005.hp1 NA19005.hp2 NA19068.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0014 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0004g0042 a0001c0001t0011g0002 a0001c0001t0013g0004	21	287	0.0732	20	c.80 others(29): Show c.804_*805insCACACACACACACACACACA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		402		chr19	TogoVar
CFD_chr19_854664_868641	864060	A A	ACACACAC others(13): Show ACACACACACACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 NA19055.hp2 NA20300.hp2 HG02040.hp2 NA19055.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0007 a0001c0001t0002 a0001c0003t0007	a0001c0001t0002g0002 a0001c0003t0007g0011 a0001c0001t0002g0002 a0001c0003t0007g0011	3	287	0.0105	20	c.82 others(29): Show c.822_*823insCACACACACACACACACACG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFD_chr19_854664_868641	864060	A A	ACACACAC others(13): Show ACACACACACACACACACGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03471.hp1 NA18906.hp2 HG02559.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0009 a0001c0003t0007 a0001c0003t0009	a0001c0003t0007g0011 a0001c0003t0009g0011 a0001c0003t0007g0011 a0001c0003t0009g0011	3	287	0.0105	20	c.82 others(29): Show c.822_*823insCACACACACACACACACGCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFD_chr19_854664_868641	866533	T T	TCCCCGTC others(13): Show TCCCCGTCCACCCGCCGCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0080 a0001c0010t0001g0080	1	287	0.0035	20	c.32 others(31): Show c.3295_*3296insCCCCGTCCACCCGCCGCAGG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2893		chr19	TogoVar
CFHR1_chr1_196814731_196837189	196824748	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG00741.hp2 others(2): Show HG00140.hp1 HG00738.hp2 HG00741.hp2 HG02071.hp2 NA19086.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0039 a0001c0003t0002g0012 a0001c0003t0002g0039	5	275	0.0182	20	c.59- others(33): Show c.59-715_59-696dupATATATATATATATATATAT	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR3_chr1_196769840_196800407	196772694	G G	GTATATAT others(13): Show GTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01975.hp1 HG02015.hp2 others(18): Show HG01361.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02738.hp1 HG02738.hp2 HG03471.hp1 NA18945.hp2 NA18946.hp1 NA18952.hp1 NA18965.hp2 NA18973.hp2 NA18987.hp2 NA18998.hp1 NA19000.hp2 NA19012.hp1 NA19065.hp1 NA19068.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0008 a0002c0001t0014 a0002c0001t0002 a0002c0001t0008 a0002c0001t0014	a0002c0001t0002g0004 a0002c0001t0002g0005 a0002c0001t0002g0008 others(13): Show a0002c0001t0002g0004 a0002c0001t0002g0005 a0002c0001t0002g0008 a0002c0001t0002g0009 a0002c0001t0002g0014 a0002c0001t0002g0024 a0002c0001t0002g0051 a0002c0001t0002g0052 a0002c0001t0002g0063 a0002c0001t0002g0066 a0002c0001t0002g0067 a0002c0001t0002g0071 a0002c0001t0002g0079 a0002c0001t0002g0081 a0002c0001t0008g0058 a0002c0001t0014g0047	21	261	0.0805	20	c.-21 others(31): Show c.-2193_-2192insTATATATATATATATATATA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2145		chr1	TogoVar
CFHR5_chr1_196972556_197014678	196976799	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0130 a0002c0004t0001g0130	1	356	0.0028	20	c.-86 others(29): Show c.-866_-865insTTTTTTTTTTTTTTTTTTTT	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding		756		chr1	TogoVar
CFH_chr1_196647043_196752504	196658407	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp2 NA18948.hp2 others(1): Show HG02451.hp2 HG03225.hp2 NA18948.hp2 NA18984.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0008 a0012c0012 a0001c0001 a0001c0008 a0012c0012	a0001c0001t0001 a0001c0008t0001 a0012c0012t0001 a0001c0001t0001 a0001c0008t0001 a0012c0012t0001	a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0008t0001g0174 others(1): Show a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0008t0001g0174 a0012c0012t0001g0175	4	308	0.0130	20	c.58+ others(35): Show c.58+6235_58+6254dupTTTTTTTTTTTTTTTTTTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196692897	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02723.hp2 others(4): Show HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0303	7	308	0.0227	20	c.133 others(39): Show c.1336+2661_1336+2662insTCCTTCCTTCCTTCCTTCCT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196692901	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	308	0.0033	20	c.133 others(39): Show c.1336+2676_1336+2695dupCTTCCTTCCTTCCTTCCTTC	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(13): Show TATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0001 a0020c0021t0001	a0020c0021t0001g0287 a0020c0021t0001g0287	1	308	0.0033	20	c.151 others(37): Show c.1519+752_1519+753insTATATATAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(13): Show TATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0088 a0004c0004t0001g0088	1	308	0.0033	20	c.151 others(37): Show c.1519+752_1519+753insTATATATATATAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714701	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	308	0.0033	20	c.151 others(37): Show c.1519+802_1519+803insGGGAGAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109756888	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18941.hp2 NA19063.hp2 HG02148.hp1 NA18941.hp2 NA19063.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0001 a0001c0002t0001 a0004c0005t0001	a0001c0002t0001g0084 a0001c0002t0001g0107 a0004c0005t0001g0101 a0001c0002t0001g0084 a0001c0002t0001g0107 a0004c0005t0001g0101	3	354	0.0085	20	c.904 others(35): Show c.904+855_904+874dupTTTCTTTCTTTCTTTCTTTC	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201114013	G G	GATATATA others(13): Show GATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0007 a0001c0001t0098g0007	1	234	0.0043	20	c.-26 others(31): Show c.-2606_-2605insATATATATATATATATATAT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2150		chr2	TogoVar
CFLAR_chr2_201111164_201181687	201114046	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0007 a0001c0001t0078g0007	1	234	0.0043	20	c.-25 others(31): Show c.-2573_-2572insTATATATATATATATATTTT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2117		chr2	TogoVar
CFLAR_chr2_201111164_201181687	201134640	T T	TTAAAATA others(13): Show TTAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0032 a0001c0002t0035g0032	1	234	0.0043	20	c.388 others(37): Show c.388-1306_388-1287dupTAAAATAAAATAAAATAAAA	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFLAR_chr2_201111164_201181687	201173669	G G	GTTATTTT others(13): Show GTTATTTTATTTTATTTTATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02717.hp1 others(3): Show HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0075 a0001c0001t0078 others(3): Show a0001c0001t0064 a0001c0001t0075 a0001c0001t0078 a0001c0001t0079 a0001c0001t0097 a0001c0001t0098	a0001c0001t0064g0044 a0001c0001t0075g0204 a0001c0001t0078g0007 others(3): Show a0001c0001t0064g0044 a0001c0001t0075g0204 a0001c0001t0078g0007 a0001c0001t0079g0203 a0001c0001t0097g0199 a0001c0001t0098g0007	6	234	0.0256	20	c.97 others(31): Show c.9713_*9714insATTTTATTTTATTTTATTTT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	10/10	9714	INFO_REALIGN_3_PRIME	chr2	TogoVar
CFTR_chr7_117475025_117673665	117499429	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	202	0.0050	20	c.54- others(35): Show c.54-4810_54-4791dupGTGTGTGTGTGTGTGTGTGT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr7	TogoVar

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