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
CFAP54_chr12_96484577_96880555	96551482	GGTATGTG others(15): Show GGTATGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0039 a0039	a0039c0064 a0039c0064	a0039c0064t0001 a0039c0064t0001	a0039c0064t0001g0209 a0039c0064t0001g0209	1	263	0.0038	-22	c.215 others(41): Show c.2155-2697_2155-2676delATGTGTGTGTGTGTGTGTGTGT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96551485	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0221 a0003c0002t0001g0221	1	42	0.0238	-22	c.215 others(41): Show c.2155-2679_2155-2658delGTGTGTGTGTGTGTGTGTGTGT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96561704	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0127 a0002c0003t0001g0127	1	77	0.0130	-22	c.241 others(41): Show c.2411-2742_2411-2721delCACACACACACACACACACACA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	17/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96704452	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG02056.hp1 others(21): Show HG00558.hp1 HG00621.hp2 HG02056.hp1 HG02083.hp2 HG02630.hp2 HG02735.hp2 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18944.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18984.hp1 NA18995.hp2 NA19012.hp1 NA19066.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp2	a0002 a0018 a0026 others(3): Show a0002 a0018 a0026 a0043 a0054 a0059	a0002c0003 a0002c0007 a0002c0032 others(7): Show a0002c0003 a0002c0007 a0002c0032 a0002c0091 a0018c0067 a0018c0068 a0026c0029 a0043c0094 a0054c0040 a0059c0090	a0002c0003t0001 a0002c0007t0001 a0002c0032t0001 others(7): Show a0002c0003t0001 a0002c0007t0001 a0002c0032t0001 a0002c0091t0001 a0018c0067t0001 a0018c0068t0001 a0026c0029t0001 a0043c0094t0001 a0054c0040t0001 a0059c0090t0001	a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0126 others(21): Show a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0139 a0002c0003t0001g0141 a0002c0003t0001g0175 a0002c0007t0001g0131 a0002c0007t0001g0132 a0002c0007t0001g0133 a0002c0007t0001g0134 a0002c0007t0001g0135 a0002c0007t0001g0150 a0002c0007t0001g0155 a0002c0007t0001g0157 a0002c0032t0001g0216 a0002c0091t0001g0138 a0018c0067t0001g0242 a0018c0068t0001g0241 a0026c0029t0001g0001 a0026c0029t0001g0176 a0043c0094t0001g0143 a0054c0040t0001g0108 a0059c0090t0001g0130	24	50	0.4800	-22	c.647 others(39): Show c.6475-263_6475-242delATATATATATATATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	46/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96755658	CTTTTTTC others(15): Show CTTTTTTCCTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(115): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18954.hp1 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0002 a0003 a0004 others(23): Show a0002 a0003 a0004 a0012 a0015 a0018 a0020 a0022 a0026 a0028 a0030 a0031 a0037 a0041 a0043 a0046 a0047 a0048 a0054 a0056 a0058 a0059 a0060 a0061 a0062 a0063	a0002c0003 a0002c0007 a0002c0032 others(40): Show a0002c0003 a0002c0007 a0002c0032 a0002c0058 a0002c0091 a0003c0002 a0003c0016 a0003c0033 a0003c0072 a0003c0073 a0004c0005 a0004c0011 a0004c0042 a0004c0081 a0004c0082 a0004c0085 a0004c0088 a0012c0021 a0012c0097 a0015c0030 a0015c0100 a0018c0067 a0018c0068 a0020c0024 a0022c0025 a0026c0029 a0028c0095 a0030c0093 a0031c0053 a0037c0099 a0041c0084 a0043c0094 a0046c0034 a0047c0096 a0048c0037 a0054c0040 a0056c0065 a0058c0092 a0059c0090 a0060c0061 a0061c0036 a0062c0038 a0063c0070	a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 others(43): Show a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 a0002c0032t0001 a0002c0058t0001 a0002c0091t0001 a0003c0002t0001 a0003c0002t0004 a0003c0016t0001 a0003c0033t0001 a0003c0072t0001 a0003c0073t0001 a0004c0005t0001 a0004c0011t0001 a0004c0042t0001 a0004c0081t0001 a0004c0082t0001 a0004c0085t0001 a0004c0088t0001 a0012c0021t0001 a0012c0097t0001 a0015c0030t0001 a0015c0030t0003 a0015c0100t0001 a0018c0067t0001 a0018c0068t0001 a0020c0024t0001 a0022c0025t0001 a0026c0029t0001 a0028c0095t0001 a0030c0093t0001 a0031c0053t0001 a0037c0099t0003 a0041c0084t0001 a0043c0094t0001 a0046c0034t0001 a0047c0096t0001 a0048c0037t0001 a0054c0040t0001 a0056c0065t0001 a0058c0092t0001 a0059c0090t0001 a0060c0061t0001 a0061c0036t0001 a0062c0038t0001 a0063c0070t0001	a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0126 others(115): Show a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0129 a0002c0003t0001g0137 a0002c0003t0001g0139 a0002c0003t0001g0141 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0175 a0002c0003t0001g0177 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0007t0001g0131 a0002c0007t0001g0132 a0002c0007t0001g0133 a0002c0007t0001g0134 a0002c0007t0001g0135 a0002c0007t0001g0136 a0002c0007t0001g0150 a0002c0007t0001g0155 a0002c0007t0001g0157 a0002c0032t0001g0216 a0002c0058t0001g0070 a0002c0091t0001g0138 a0003c0002t0001g0210 a0003c0002t0001g0211 a0003c0002t0001g0219 a0003c0002t0001g0220 a0003c0002t0001g0221 a0003c0002t0001g0223 a0003c0002t0001g0224 a0003c0002t0001g0225 a0003c0002t0001g0226 a0003c0002t0001g0227 a0003c0002t0001g0228 a0003c0002t0001g0229 a0003c0002t0001g0233 a0003c0002t0001g0234 a0003c0002t0001g0235 a0003c0002t0001g0238 a0003c0002t0001g0239 a0003c0002t0001g0240 a0003c0002t0001g0245 a0003c0002t0001g0247 a0003c0002t0001g0250 a0003c0002t0001g0251 a0003c0002t0001g0265 a0003c0002t0001g0267 a0003c0002t0001g0268 a0003c0002t0004g0264 a0003c0016t0001g0243 a0003c0016t0001g0244 a0003c0016t0001g0246 a0003c0033t0001g0218 a0003c0072t0001g0236 a0003c0073t0001g0214 a0004c0005t0001g0007 a0004c0005t0001g0021 a0004c0005t0001g0080 a0004c0005t0001g0088 a0004c0005t0001g0097 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0103 a0004c0005t0001g0237 a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 a0004c0011t0001g0120 a0004c0042t0001g0089 a0004c0081t0001g0123 a0004c0082t0001g0167 a0004c0085t0001g0147 a0004c0088t0001g0140 a0012c0021t0001g0203 a0012c0021t0001g0204 a0012c0021t0001g0206 a0012c0097t0001g0196 a0015c0030t0001g0192 a0015c0030t0003g0194 a0015c0100t0001g0193 a0018c0067t0001g0242 a0018c0068t0001g0241 a0020c0024t0001g0010 a0020c0024t0001g0109 a0022c0025t0001g0002 a0022c0025t0001g0003 a0026c0029t0001g0001 a0026c0029t0001g0176 a0028c0095t0001g0148 a0030c0093t0001g0149 a0031c0053t0001g0024 a0037c0099t0003g0195 a0041c0084t0001g0124 a0043c0094t0001g0143 a0046c0034t0001g0006 a0047c0096t0001g0252 a0048c0037t0001g0165 a0054c0040t0001g0108 a0056c0065t0001g0212 a0058c0092t0001g0160 a0059c0090t0001g0130 a0060c0061t0001g0039 a0061c0036t0001g0095 a0062c0038t0001g0191 a0063c0070t0001g0230	118	266	0.4436	-22	c.784 others(39): Show c.7841-794_7841-773delTCCTTTTTTTTTTTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	56/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96806159	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0023 a0023	a0023c0026 a0023c0026	a0023c0026t0001 a0023c0026t0001	a0023c0026t0001g0090 a0023c0026t0001g0090	1	102	0.0098	-22	c.885 others(41): Show c.8851-5543_8851-5522delTATATATATATATATATATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	63/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96874612	CTTTTTTT others(15): Show CTTTTTTTTATTTTTATTTTATT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	150	0.0067	-22	c.15 others(37): Show c.15-497_*15-476delATTTTTATTTTATTTTTTTTTT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	67/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104357888	TAAACATA others(15): Show TAAACATATATGTACACATATAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	302	0.0033	-22	c.10- others(35): Show c.10-451_10-430delAACATATATGTACACATATACA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP58_chr10_104348833_104460102	104378991	CATCTGCA others(15): Show CATCTGCATTTTTAAAAAACTGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA21309.hp1 HG01243.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0246 a0002c0002t0001g0058 a0002c0002t0001g0246	2	306	0.0065	-22	c.117 others(41): Show c.1174-1037_1174-1016delATCTGCATTTTTAAAAAACTGA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	8/17			chr10	TogoVar
CFAP58_chr10_104348833_104460102	104396369	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG04228.hp1 NA18945.hp1 others(8): Show HG00738.hp1 HG04228.hp1 NA18945.hp1 NA18973.hp2 NA18977.hp1 NA19000.hp2 NA19002.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0133 others(8): Show a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0133 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0206 a0002c0002t0001g0250 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0002g0054	11	57	0.1930	-22	c.167 others(41): Show c.1675-2942_1675-2921delGAGAGAGAGAGAGAGAGAGAGA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP61_chr20_20047532_20365698	20072091	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG01169.hp1 others(4): Show HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01975.hp2 NA18955.hp1 NA18955.hp2 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0157 a0001c0001t0002g0035 a0001c0001t0002g0036 others(4): Show a0001c0001t0001g0157 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0194 a0002c0002t0001g0186	7	18	0.3889	-22	c.294 others(39): Show c.294+1107_294+1128delTTTTTTTTTTTTTTTTTTTTTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP65_chr2_218997846_219046516	219043899	TCTCTCAC others(15): Show TCTCTCACACACACACACACATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02135.hp1 others(8): Show HG01891.hp2 HG02055.hp1 HG02135.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0003 a0005c0007 a0007c0006 a0003c0003 a0005c0007 a0007c0006	a0003c0003t0002 a0005c0007t0003 a0007c0006t0002 a0003c0003t0002 a0005c0007t0003 a0007c0006t0002	a0003c0003t0002g0005 a0003c0003t0002g0021 a0003c0003t0002g0061 others(6): Show a0003c0003t0002g0005 a0003c0003t0002g0021 a0003c0003t0002g0061 a0005c0007t0003g0031 a0005c0007t0003g0178 a0005c0007t0003g0179 a0005c0007t0003g0180 a0005c0007t0003g0181 a0007c0006t0002g0084	11	258	0.0426	-22	c.-24 others(33): Show c.-2482_-2461delTATGTGTGTGTGTGTGTGAGAG	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding		2384		chr2	TogoVar
CFAP69_chr7_90240174_90316063	90264102	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0160 a0001c0002t0004g0160	1	334	0.0030	-22	c.357 others(39): Show c.357-1197_357-1176delAATATATATATATATATATATA	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP69_chr7_90240174_90316063	90264104	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03098.hp2 HG03130.hp2 others(1): Show HG02818.hp1 HG03098.hp2 HG03130.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0004 a0001c0011t0003 a0001c0002t0004 a0001c0011t0003	a0001c0002t0004g0161 a0001c0011t0003g0157 a0001c0011t0003g0158 others(1): Show a0001c0002t0004g0161 a0001c0011t0003g0157 a0001c0011t0003g0158 a0001c0011t0003g0159	4	185	0.0216	-22	c.357 others(39): Show c.357-1172_357-1151delATATATATATATATATATATAT	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP70_chr10_73248762_73363864	73351067	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00609.hp1 others(12): Show HG00438.hp2 HG00544.hp2 HG00609.hp1 HG02071.hp1 HG02155.hp2 HG02523.hp2 NA18942.hp2 NA18968.hp2 NA18978.hp1 NA18992.hp2 NA18999.hp1 NA19002.hp1 NA19054.hp1 NA19065.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0043 a0002c0002t0001g0044 others(12): Show a0002c0002t0001g0030 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0085 a0002c0002t0001g0089	15	149	0.1007	-22	c.250 others(39): Show c.250+2467_250+2488delTATATATATATATATATACACA	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	3/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73351069	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	147	0.0068	-22	c.250 others(39): Show c.250+2465_250+2486delTATATATATATATATATATACA	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	3/27			chr10	TogoVar
CFAP77_chr9_132405211_132578319	132485985	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	200	0.0050	-22	c.196 others(41): Show c.196-12675_196-12654delATATATATATATATATATATAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486020	ATATATAT others(15): Show ATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	313	0.0032	-22	c.196 others(41): Show c.196-12671_196-12650delATATATATATATATATATGTAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132561604	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18970.hp1 NA18953.hp2 NA18970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0112 a0002c0003t0001g0236 a0002c0003t0001g0112 a0002c0003t0001g0236	2	191	0.0105	-22	c.733 others(41): Show c.733-10747_733-10726delACACACACACACACACACACAC	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132561641	ACACACAC others(15): Show ACACACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01106.hp1 others(14): Show HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01515.hp2 HG01517.hp1 HG02145.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02976.hp2 HG03225.hp1 HG03516.hp1 HG03516.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0004t0008 a0001c0005t0005	a0001c0001t0001g0050 a0001c0001t0001g0081 a0001c0001t0001g0095 others(14): Show a0001c0001t0001g0050 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0046 a0001c0001t0002g0289 a0001c0004t0002g0178 a0001c0004t0002g0248 a0001c0004t0002g0250 a0001c0004t0008g0129 a0001c0005t0005g0158	17	320	0.0531	-22	c.733 others(41): Show c.733-10745_733-10724delACACACACACACACACACACCC	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP90_chr5_7825378_7856133	7847457	TTTTTCTG others(15): Show TTTTTCTGTAAAGGGCCAGGTAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(109): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG04184.hp2 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19004.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19070.hp1 NA19074.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0005 a0003c0003 others(1): Show a0001c0001 a0001c0005 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0005t0006 a0003c0003t0001 a0004c0004t0005	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0050 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0002g0021 a0001c0001t0002g0134 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0010g0132 a0001c0001t0010g0146 a0001c0001t0010g0151 a0001c0001t0013g0139 a0001c0001t0013g0159 a0001c0001t0017g0059 a0001c0001t0020g0152 a0001c0001t0021g0147 a0001c0005t0006g0010 a0001c0005t0006g0042 a0001c0005t0006g0110 a0001c0005t0006g0113 a0001c0005t0006g0114 a0001c0005t0006g0115 a0003c0003t0001g0003 a0003c0003t0001g0133 a0003c0003t0001g0144 a0004c0004t0005g0135	112	418	0.2679	-22	c.147 others(39): Show c.147+3396_147+3417delCTACCTGGCCCTTTACAGAAAA	CFAP90	ENSG00000215217.7	transcript	ENST00000399810.7	protein_coding	1/2			chr5	TogoVar
CFAP91_chr3_119698022_119772102	119730601	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02109.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0022 a0001c0002t0013 a0001c0002t0022	a0001c0002t0013g0048 a0001c0002t0022g0101 a0001c0002t0013g0048 a0001c0002t0022g0101	2	39	0.0513	-22	c.101 others(39): Show c.1018+252_1018+273delTGTGTGTGTGTGTGTGTGTGTG	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP92_chr3_128904873_128999076	128908846	AGCCAGGG others(15): Show AGCCAGGGGCCCAGCATACCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	340	0.0029	-22	c.14 others(33): Show c.1431_*1452delCTGGGTATGCTGGGCCCCTGGC	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding		1026		chr3	TogoVar
CFAP92_chr3_128904873_128999076	128953609	CTCTCCCT others(15): Show CTCTCCCTCTCCCTCCCTCTCCG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	338	0.0030	-22	c.135 others(41): Show c.1354-7656_1354-7635delCGGAGAGGGAGGGAGAGGGAGA	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP92_chr3_128904873_128999076	128988139	ACACACAT others(15): Show ACACACATGCACACACACGTCTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0198 a0001c0016t0001g0198	1	340	0.0029	-22	c.454 others(37): Show c.454-332_454-311delCAGACGTGTGTGTGCATGTGTG	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	3/15			chr3	TogoVar
CFB_chr6_31941095_31957084	31943545	CCAGCCTC others(15): Show CCAGCCTCCTGATCCTGAAGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02976.hp2 HG02698.hp1 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0022 a0002c0003t0001g0003 a0002c0003t0001g0022	2	430	0.0047	-22	c.-26 others(33): Show c.-2676_-2655delCAGCCTCCTGATCCTGAAGCCA	CFB	ENSG00000243649.10	transcript	ENST00000425368.7	protein_coding		2549		chr6	TogoVar
CFHR5_chr1_196972556_197014678	196999683	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG06807.hp2 NA18906.hp1 HG02970.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0089	3	155	0.0194	-22	c.114 others(41): Show c.1147+1398_1147+1419delTATATATATATATATATATATA	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714658	TATATATA others(15): Show TATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	295	0.0034	-22	c.151 others(39): Show c.1519+743_1519+764delTATATATATAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714660	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18991.hp1 HG02015.hp1 NA18991.hp1	a0002 a0016 a0002 a0016	a0002c0002 a0016c0027 a0002c0002 a0016c0027	a0002c0002t0001 a0016c0027t0001 a0002c0002t0001 a0016c0027t0001	a0002c0002t0001g0085 a0016c0027t0001g0132 a0002c0002t0001g0085 a0016c0027t0001g0132	2	286	0.0070	-22	c.151 others(39): Show c.1519+745_1519+766delTATATATAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714664	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	243	0.0041	-22	c.151 others(39): Show c.1519+749_1519+770delTATAGAGAGAGAGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109756955	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	352	0.0028	-22	c.904 others(37): Show c.904+786_904+807delCTTTCTTTCTTTCTTTCTTTCT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109779954	TCCTTATA others(15): Show TCCTTATAAGGTGTATATTTACA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG02080.hp2 others(17): Show HG00673.hp1 HG02027.hp2 HG02080.hp2 HG02155.hp1 HG02523.hp1 HG03239.hp2 HG03831.hp1 NA18612.hp2 NA18747.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18979.hp2 NA18982.hp2 NA18989.hp1 NA18994.hp1 NA18999.hp1 NA19002.hp2 NA19064.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0311 others(17): Show a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0311 a0002c0003t0001g0248 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0312 a0002c0003t0001g0313 a0002c0003t0001g0314 a0002c0003t0001g0315 a0002c0003t0001g0317 a0002c0003t0001g0318	20	352	0.0568	-22	c.58- others(39): Show c.58-13152_58-13131delTGTAAATATACACCTTATAAGG	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFTR_chr7_117475025_117673665	117612006	GATATATA others(15): Show GATATATATATATATATGTATAT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19030.hp2 NA19240.hp1 HG02970.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014 a0001c0006t0006g0005 a0001c0006t0006g0013 a0001c0006t0006g0014	3	184	0.0163	-22	c.336 others(39): Show c.3367+215_3367+236delGTATATATATATATATATATAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGA_chr6_87080498_87100106	87083636	AAAAGTAT others(15): Show AAAAGTATAATAAGTAAATAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	418	0.0024	-22	c.20 others(33): Show c.2098_*2119delCTTTATTTACTTATTATACTTT	CGA	ENSG00000135346.9	transcript	ENST00000627148.3	protein_coding		1861		chr6	TogoVar
CGA_chr6_87080498_87100106	87094075	TTTCAGAA others(15): Show TTTCAGAAACTTTAAAAGATTCC	T T	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	418	0.0024	-22	c.-8+ others(35): Show c.-8+916_-8+937delGGAATCTTTTAAAGTTTCTGAA	CGA	ENSG00000135346.9	transcript	ENST00000627148.3	protein_coding	1/3			chr6	TogoVar
CGB7_chr19_49049274_49062749	49058327	AGAGGGTC others(15): Show AGAGGGTCCGCGACCGTGGACTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0057 a0002c0002t0038g0057	1	420	0.0024	-22	c.-22 others(33): Show c.-2236_-2215delCAGTCCACGGTCGCGGACCCTC	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding		579		chr19	TogoVar
CGNL1_chr15_57371505_57555717	57374538	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01255.hp1 HG01515.hp2 others(18): Show HG01074.hp1 HG01255.hp1 HG01515.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03139.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0008 a0011 a0015	a0001c0001 a0001c0005 a0001c0039 others(6): Show a0001c0001 a0001c0005 a0001c0039 a0002c0002 a0004c0004 a0005c0006 a0008c0010 a0011c0013 a0015c0036	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0005t0002 a0001c0039t0010 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0014 a0002c0002t0034 a0004c0004t0001 a0005c0006t0033 a0005c0006t0035 a0008c0010t0005 a0011c0013t0009 a0015c0036t0002	a0001c0001t0001g0044 a0001c0001t0001g0126 a0001c0001t0001g0127 others(18): Show a0001c0001t0001g0044 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0004g0047 a0001c0001t0004g0091 a0001c0001t0004g0155 a0001c0001t0010g0262 a0001c0005t0002g0167 a0001c0039t0010g0046 a0002c0002t0007g0006 a0002c0002t0007g0045 a0002c0002t0008g0039 a0002c0002t0013g0114 a0002c0002t0014g0040 a0002c0002t0034g0090 a0004c0004t0001g0011 a0005c0006t0033g0037 a0005c0006t0035g0038 a0008c0010t0005g0048 a0011c0013t0009g0012 a0015c0036t0002g0154	21	52	0.4038	-22	c.-20 others(33): Show c.-2044_-2023delTGTGTGTGTGTGTGTGTGTGTG	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding		1966		chr15	TogoVar
CGNL1_chr15_57371505_57555717	57513274	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp2 others(60): Show HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00544.hp2 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02300.hp1 HG02602.hp1 HG02683.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 NA18946.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18964.hp1 NA18974.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19011.hp2 NA19060.hp1 NA19080.hp1 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0019 a0023 a0024 a0025 a0027	a0001c0001 a0001c0005 a0001c0011 others(12): Show a0001c0001 a0001c0005 a0001c0011 a0001c0015 a0002c0002 a0003c0003 a0003c0032 a0004c0004 a0004c0025 a0007c0009 a0019c0031 a0023c0022 a0024c0028 a0025c0033 a0027c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0005t0002 a0001c0011t0002 a0001c0011t0022 a0001c0015t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0032t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0025t0026 a0007c0009t0002 a0007c0009t0003 a0019c0031t0004 a0023c0022t0002 a0024c0028t0006 a0025c0033t0002 a0027c0024t0002	a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0102 others(59): Show a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0132 a0001c0001t0001g0258 a0001c0001t0002g0001 a0001c0001t0002g0070 a0001c0001t0002g0100 a0001c0001t0002g0113 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0240 a0001c0001t0002g0251 a0001c0001t0002g0266 a0001c0001t0004g0250 a0001c0001t0011g0106 a0001c0001t0011g0277 a0001c0001t0011g0279 a0001c0001t0011g0281 a0001c0005t0002g0015 a0001c0005t0002g0062 a0001c0005t0002g0200 a0001c0005t0002g0201 a0001c0005t0002g0214 a0001c0005t0002g0215 a0001c0011t0002g0084 a0001c0011t0002g0103 a0001c0011t0002g0110 a0001c0011t0022g0152 a0001c0015t0001g0019 a0002c0002t0002g0093 a0003c0003t0001g0144 a0003c0003t0001g0151 a0003c0003t0002g0064 a0003c0003t0002g0150 a0003c0003t0002g0172 a0003c0003t0004g0086 a0003c0032t0002g0074 a0004c0004t0001g0088 a0004c0004t0001g0136 a0004c0004t0002g0156 a0004c0004t0002g0157 a0004c0004t0004g0135 a0004c0025t0026g0191 a0007c0009t0002g0089 a0007c0009t0002g0143 a0007c0009t0003g0076 a0019c0031t0004g0101 a0023c0022t0002g0173 a0024c0028t0006g0066 a0025c0033t0002g0218 a0027c0024t0002g0111	63	292	0.2158	-22	c.240 others(41): Show c.2404-3499_2404-3478delTGTGTGTGTGTGTGTTTGTGTG	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116871	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	157	0.0064	-22	c.-12 others(39): Show c.-12+1953_-12+1974delGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHADL_chr22_41224513_41245931	41242143	CATATATA others(15): Show CATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03453.hp2 HG01109.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	2	81	0.0247	-22	c.-12 others(33): Show c.-1284_-1263delATATATATATATATATATATAT	CHADL	ENSG00000100399.16	transcript	ENST00000216241.14	protein_coding		1213		chr22	TogoVar
CHAT_chr10_49609037_49672942	49621857	GGCAAGAA others(15): Show GGCAAGAACCACATCTGATTAGT	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0023 a0001c0001t0015g0023	2	416	0.0048	-22	c.699 others(37): Show c.699-236_699-215delAGAACCACATCTGATTAGTGCA	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHAT_chr10_49609037_49672942	49621861	AGAACCAC others(15): Show AGAACCACATCTGATTAGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01884.hp1 others(10): Show HG01069.hp2 HG01071.hp2 HG01884.hp1 HG02258.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02723.hp1 HG02895.hp1 HG03041.hp2 HG03209.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0003t0003 a0001c0013t0005 a0001c0013t0032	a0001c0001t0001g0025 a0001c0001t0001g0220 a0001c0001t0001g0290 others(7): Show a0001c0001t0001g0025 a0001c0001t0001g0220 a0001c0001t0001g0290 a0001c0001t0003g0024 a0001c0001t0003g0287 a0001c0001t0016g0026 a0001c0003t0003g0286 a0001c0003t0003g0288 a0001c0013t0005g0289 a0001c0013t0032g0378	13	414	0.0314	-22	c.699 others(37): Show c.699-214_699-193delGGAACCACATCTGATTAGTGCA	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD4_chr3_14107077_14129870	14116611	GTTTGAAG others(15): Show GTTTGAAGACTCTCCCATATGCC	G G	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	414	0.0024	-22	c.23- others(34): Show c.23-109_23-88delGGCATATGGGAGAGTCTTCAAA	CHCHD4	ENSG00000163528.13	transcript	ENST00000396914.4	protein_coding	1/2			chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862092	CACCATCA others(15): Show CACCATCACCACCTTCCCCTCTA	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	214	0.0047	-22	c.495 others(39): Show c.495+9363_495+9384delACCATCACCACCTTCCCCTCTA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126862131	CCCCTCCT others(15): Show CCCCTCCTCCACCATCACCACCT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	214	0.0047	-22	c.495 others(39): Show c.495+9405_495+9426delTCCTCCACCATCACCACCTCCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD4_chr12_6565082_6612379	6607668	CCCAACAC others(15): Show CCCAACACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02004.hp2 HG02040.hp1 others(5): Show HG00621.hp2 HG02004.hp2 HG02040.hp1 HG02080.hp2 HG03704.hp2 HG04199.hp2 NA18987.hp1 NA19062.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0019 a0001c0003t0003g0020 others(4): Show a0001c0003t0003g0005 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0003t0003g0110 a0001c0003t0003g0118	8	320	0.0250	-22	c.-46 others(31): Show c.-469_-448delTGTGTGTGTGTGTGTGTGTTGG	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding		290		chr12	TogoVar
CHD5_chr1_6096787_6185321	6134644	GACCTACC others(15): Show GACCTACCATGGCGGCCACAGGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02083.hp1 others(22): Show HG01884.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp1 NA18906.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0008 others(11): Show a0001c0001 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0014 a0001c0019 a0001c0028 a0001c0039 a0001c0041 a0001c0044 a0002c0002 a0002c0017 a0002c0047	a0001c0001t0011 a0001c0001t0067 a0001c0001t0083 others(19): Show a0001c0001t0011 a0001c0001t0067 a0001c0001t0083 a0001c0005t0006 a0001c0005t0059 a0001c0008t0006 a0001c0009t0011 a0001c0009t0013 a0001c0009t0040 a0001c0009t0075 a0001c0010t0013 a0001c0014t0080 a0001c0019t0011 a0001c0019t0084 a0001c0028t0013 a0001c0039t0057 a0001c0041t0013 a0001c0044t0081 a0002c0002t0042 a0002c0017t0001 a0002c0017t0026 a0002c0047t0074	a0001c0001t0011g0298 a0001c0001t0067g0085 a0001c0001t0083g0308 others(22): Show a0001c0001t0011g0298 a0001c0001t0067g0085 a0001c0001t0083g0308 a0001c0005t0006g0203 a0001c0005t0059g0098 a0001c0008t0006g0276 a0001c0009t0011g0241 a0001c0009t0011g0253 a0001c0009t0013g0062 a0001c0009t0013g0230 a0001c0009t0040g0015 a0001c0009t0075g0309 a0001c0010t0013g0243 a0001c0014t0080g0307 a0001c0019t0011g0202 a0001c0019t0084g0316 a0001c0028t0013g0061 a0001c0039t0057g0242 a0001c0041t0013g0251 a0001c0044t0081g0313 a0002c0002t0042g0018 a0002c0017t0001g0295 a0002c0017t0001g0296 a0002c0017t0026g0294 a0002c0047t0074g0314	25	318	0.0786	-22	c.301 others(37): Show c.3012+52_3012+73delGCCTGTGGCCGCCATGGTAGGT	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	19/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6134659	CCACAGGC others(15): Show CCACAGGCACCTACCATGGCGGT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0044 a0002c0002t0025g0044	1	318	0.0031	-22	c.301 others(37): Show c.3012+37_3012+58delACCGCCATGGTAGGTGCCTGTG	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	19/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6174950	TGGATGGA others(15): Show TGGATGGATGGATGGTGGATGAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG00738.hp2 HG01069.hp1	a0001 a0001	a0001c0005 a0001c0020 a0001c0005 a0001c0020	a0001c0005t0054 a0001c0020t0002 a0001c0005t0054 a0001c0020t0002	a0001c0005t0054g0054 a0001c0020t0002g0053 a0001c0005t0054g0054 a0001c0020t0002g0053	2	318	0.0063	-22	c.79+ others(37): Show c.79+4973_79+4994delTTCATCCACCATCCATCCATCC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/41			chr1	TogoVar
CHD6_chr20_41397083_41623377	41498799	ATGTATGT others(15): Show ATGTATGTATGTATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02622.hp2 HG01167.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0264 a0001c0001t0001g0265	2	308	0.0065	-22	c.915 others(37): Show c.915+474_915+495delCACACACACATACATACATACA	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	6/36			chr20	TogoVar

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