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
CATSPERB_chr14_91575698_91737086	91607084	CGGG CGGG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02015.hp2 HG02083.hp1 others(18): Show HG00438.hp2 HG02015.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp1 HG02895.hp2 HG02976.hp2 HG03239.hp2 HG03490.hp2 NA18942.hp2 NA18969.hp2 NA18973.hp1 NA18982.hp2 NA18992.hp2 NA19005.hp2 NA19057.hp1 NA19076.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 a0003c0004t0004	a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0030 others(18): Show a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0170 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0248 a0002c0003t0001g0141 a0002c0003t0001g0143 a0002c0003t0001g0148 a0002c0003t0003g0269 a0003c0004t0004g0002	21	271	0.0775	-3	c.270 others(22): Show c.2709+1207_2709+1209delCCC	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	22/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91654052	CAGA CAGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01243.hp2 others(3): Show HG00642.hp2 HG00735.hp2 HG01243.hp2 HG01515.hp1 HG01517.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0058 a0001c0001t0001g0153 a0001c0001t0001g0157 others(3): Show a0001c0001t0001g0058 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0005t0002g0211 a0001c0005t0002g0213	6	271	0.0221	-3	c.143 others(22): Show c.1432+5782_1432+5784delTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91664259	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp2 others(111): Show HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18997.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0005c0009 a0006c0008 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0005c0009t0002 a0006c0008t0001 a0007c0007t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(111): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0264 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0040 a0001c0001t0002g0064 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0185 a0001c0001t0002g0208 a0001c0001t0004g0004 a0001c0002t0001g0014 a0001c0002t0001g0024 a0001c0002t0001g0142 a0001c0002t0001g0161 a0001c0002t0002g0017 a0001c0002t0002g0069 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0130 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0193 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0263 a0001c0002t0002g0265 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0061 a0002c0003t0001g0143 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0002g0137 a0002c0003t0002g0139 a0002c0003t0003g0267 a0002c0003t0003g0268 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271 a0005c0009t0002g0127 a0006c0008t0001g0047 a0007c0007t0001g0093	114	271	0.4207	-3	c.128 others(22): Show c.1288-4281_1288-4279delAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91672022	AAAC AAAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01243.hp2 others(5): Show HG00642.hp2 HG00735.hp2 HG01243.hp2 HG01515.hp1 HG01517.hp2 HG02896.hp1 HG02897.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0005t0002 a0001c0001t0001 a0001c0001t0004 a0001c0005t0002	a0001c0001t0001g0058 a0001c0001t0001g0157 a0001c0001t0001g0158 others(5): Show a0001c0001t0001g0058 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0205 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0005t0002g0211 a0001c0005t0002g0213	8	271	0.0295	-3	c.112 others(20): Show c.1128+842_1128+844delGTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	13/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91692194	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02165.hp1 HG02300.hp2 others(17): Show HG02129.hp1 HG02165.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02976.hp2 HG03516.hp1 HG03669.hp2 NA18969.hp2 NA18972.hp2 NA18975.hp2 NA18982.hp1 NA18992.hp1 NA19000.hp1 NA19001.hp2 NA19005.hp1 NA19057.hp2 NA19064.hp2 NA19084.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0001t0005 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003	a0001c0001t0005g0005 a0001c0001t0005g0006 a0002c0003t0001g0037 others(17): Show a0001c0001t0005g0005 a0001c0001t0005g0006 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0061 a0002c0003t0001g0138 a0002c0003t0001g0141 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0002g0137 a0002c0003t0002g0139 a0002c0003t0002g0151 a0002c0003t0003g0268 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271	20	271	0.0738	-3	c.832 others(18): Show c.832-642_832-640delCTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	9/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91707575	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18945.hp2 NA19056.hp1 others(2): Show HG02056.hp2 NA18945.hp2 NA19056.hp1 NA19058.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 others(2): Show a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0002g0185	5	271	0.0185	-3	c.466 others(18): Show c.466+563_466+565delAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	6/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5715643	TAAA TAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01169.hp1 HG02109.hp2 others(6): Show HG00280.hp1 HG01169.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG03098.hp2 HG03130.hp2 NA19066.hp1 NA20752.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0012	a0001c0001 a0003c0004 a0004c0003 others(1): Show a0001c0001 a0003c0004 a0004c0003 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0004c0003t0001 a0012c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0046 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0124 a0001c0001t0002g0147 a0003c0004t0001g0076 a0003c0004t0001g0148 a0004c0003t0001g0132 a0012c0015t0001g0125	9	336	0.0268	-3	c.-50 others(14): Show c.-5094_-5092delAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4993		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5715677	AAAG AAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01255.hp1 others(6): Show HG01081.hp1 HG01109.hp1 HG01255.hp1 HG02129.hp2 HG03491.hp2 NA18942.hp2 NA18943.hp1 NA19089.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0003c0005 a0004c0003	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0003c0005t0001 a0004c0003t0001	a0001c0001t0001g0121 a0001c0001t0001g0154 a0002c0002t0001g0114 others(6): Show a0001c0001t0001g0121 a0001c0001t0001g0154 a0002c0002t0001g0114 a0002c0002t0001g0116 a0003c0004t0001g0108 a0003c0005t0001g0254 a0004c0003t0001g0179 a0004c0003t0001g0240 a0004c0003t0001g0272	9	336	0.0268	-3	c.-50 others(14): Show c.-5060_-5058delAAG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4959		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5723458	ATTT ATTT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02965.hp1 HG03098.hp1 others(3): Show HG02027.hp1 HG02965.hp1 HG03098.hp1 HG03486.hp2 NA18943.hp2 NA18946.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0008 a0018 a0025	a0002c0019 a0003c0041 a0004c0042 others(3): Show a0002c0019 a0003c0041 a0004c0042 a0008c0009 a0018c0020 a0025c0032	a0002c0019t0001 a0003c0041t0001 a0004c0042t0001 others(3): Show a0002c0019t0001 a0003c0041t0001 a0004c0042t0001 a0008c0009t0001 a0018c0020t0001 a0025c0032t0001	a0002c0019t0001g0330 a0003c0041t0001g0329 a0004c0042t0001g0316 others(3): Show a0002c0019t0001g0330 a0003c0041t0001g0329 a0004c0042t0001g0316 a0008c0009t0001g0008 a0018c0020t0001g0018 a0025c0032t0001g0334	6	336	0.0179	-3	c.72- others(18): Show c.72-1328_72-1326delTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741796	GGGT GGGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00642.hp1 others(58): Show HG00323.hp1 HG00621.hp1 HG00642.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02135.hp2 HG02257.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18954.hp2 NA18960.hp1 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0013 a0021 a0022 a0023 a0026 a0031	a0001c0001 a0002c0002 a0003c0004 others(7): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003 a0013c0031 a0021c0023 a0022c0025 a0023c0026 a0026c0033 a0031c0028	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0003c0004t0001 a0003c0004t0003 a0004c0003t0001 a0004c0003t0003 a0013c0031t0001 a0021c0023t0001 a0022c0025t0001 a0023c0026t0002 a0026c0033t0001 a0031c0028t0001	a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0001g0039 others(58): Show a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0002g0059 a0001c0001t0002g0147 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0056 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0085 a0002c0002t0001g0097 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0003g0138 a0003c0004t0001g0058 a0003c0004t0001g0061 a0003c0004t0001g0076 a0003c0004t0001g0095 a0003c0004t0001g0129 a0003c0004t0001g0303 a0003c0004t0001g0336 a0003c0004t0003g0083 a0004c0003t0001g0079 a0004c0003t0001g0080 a0004c0003t0001g0087 a0004c0003t0001g0132 a0004c0003t0001g0302 a0004c0003t0001g0319 a0004c0003t0003g0047 a0004c0003t0003g0053 a0004c0003t0003g0071 a0004c0003t0003g0075 a0004c0003t0003g0131 a0013c0031t0001g0036 a0021c0023t0001g0052 a0022c0025t0001g0146 a0023c0026t0002g0335 a0026c0033t0001g0301 a0031c0028t0001g0130	61	336	0.1816	-3	c.573 others(20): Show c.573+2362_573+2364delGTG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751531	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02071.hp1 HG03486.hp1 others(3): Show HG01192.hp1 HG02071.hp1 HG03486.hp1 NA18972.hp1 NA19089.hp2 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0003 a0001c0001 a0003c0004 a0004c0003	a0001c0001t0001 a0003c0004t0001 a0004c0003t0001 a0001c0001t0001 a0003c0004t0001 a0004c0003t0001	a0001c0001t0001g0082 a0001c0001t0001g0162 a0001c0001t0001g0268 others(3): Show a0001c0001t0001g0082 a0001c0001t0001g0162 a0001c0001t0001g0268 a0003c0004t0001g0178 a0004c0003t0001g0218 a0004c0003t0001g0240	6	336	0.0179	-3	c.988 others(16): Show c.988-81_988-79delAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5757599	ATTT ATTT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01517.hp1 HG02257.hp2 others(6): Show HG01258.hp2 HG01517.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0030	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0006c0007 a0030c0038	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0003c0004t0001 a0006c0007t0002 a0030c0038t0002	a0001c0001t0001g0065 a0001c0001t0002g0147 a0002c0002t0001g0056 others(6): Show a0001c0001t0001g0065 a0001c0001t0002g0147 a0002c0002t0001g0056 a0002c0002t0001g0259 a0002c0002t0003g0070 a0003c0004t0001g0022 a0003c0004t0001g0314 a0006c0007t0002g0031 a0030c0038t0002g0317	9	336	0.0268	-3	c.127 others(20): Show c.1279-224_1279-222delTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5779062	CTTT CTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG01243.hp2 others(17): Show HG00741.hp2 HG01109.hp2 HG01243.hp2 HG01515.hp1 HG01517.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02698.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0009 a0010 a0011 a0025 a0034	a0001c0001 a0001c0045 a0005c0006 others(6): Show a0001c0001 a0001c0045 a0005c0006 a0006c0007 a0009c0012 a0010c0011 a0011c0008 a0025c0032 a0034c0046	a0001c0001t0001 a0001c0001t0004 a0001c0045t0001 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0045t0001 a0005c0006t0001 a0006c0007t0001 a0009c0012t0001 a0010c0011t0001 a0011c0008t0001 a0025c0032t0001 a0034c0046t0001	a0001c0001t0001g0021 a0001c0001t0001g0078 a0001c0001t0001g0100 others(17): Show a0001c0001t0001g0021 a0001c0001t0001g0078 a0001c0001t0001g0100 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0045t0001g0151 a0005c0006t0001g0219 a0006c0007t0001g0025 a0009c0012t0001g0153 a0009c0012t0001g0156 a0009c0012t0001g0159 a0010c0011t0001g0003 a0011c0008t0001g0012 a0011c0008t0001g0014 a0025c0032t0001g0334 a0034c0046t0001g0005	20	336	0.0595	-3	c.38 others(12): Show c.387_*389delTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		329		chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244472897	GCTT GCTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG00741.hp2 others(26): Show HG00621.hp2 HG00735.hp2 HG00741.hp2 HG01433.hp1 HG01928.hp1 HG01934.hp2 HG02015.hp2 HG02055.hp2 HG02074.hp2 HG02148.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02965.hp1 HG03654.hp1 HG03927.hp2 HG04115.hp1 NA18612.hp1 NA18953.hp2 NA18975.hp1 NA18982.hp2 NA19007.hp1 NA19012.hp2 NA19060.hp1 NA19062.hp2 NA19081.hp1 NA19084.hp2 NA19089.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0007t0001 a0003c0005t0001	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 others(26): Show a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0206 a0001c0001t0003g0202 a0001c0002t0002g0111 a0001c0007t0001g0133 a0003c0005t0001g0124	29	206	0.1408	-3	c.115 others(20): Show c.115-4640_115-4638delCTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244491706	TAAA TAAA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03471.hp1 HG02896.hp2 HG02897.hp2 HG03471.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0001 a0006c0010t0001 a0001c0002t0001 a0006c0010t0001	a0001c0002t0001g0088 a0006c0010t0001g0137 a0006c0010t0001g0138 a0001c0002t0001g0088 a0006c0010t0001g0137 a0006c0010t0001g0138	3	206	0.0146	-3	c.351 others(20): Show c.351+1236_351+1238delAAA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	6/21			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244516191	AAAT AAAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp1 HG01109.hp1 others(20): Show HG00621.hp1 HG00741.hp1 HG01109.hp1 HG01433.hp2 HG02055.hp1 HG02074.hp1 HG02145.hp2 HG02451.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03831.hp1 HG03927.hp1 NA18906.hp2 NA18975.hp1 NA19030.hp1 NA19043.hp1 NA19081.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0009	a0001c0001 a0002c0004 a0005c0008 others(2): Show a0001c0001 a0002c0004 a0005c0008 a0008c0024 a0009c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0005c0008t0003 a0008c0024t0001 a0009c0022t0001	a0001c0001t0001g0012 a0001c0001t0001g0086 a0001c0001t0001g0110 others(20): Show a0001c0001t0001g0012 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0002g0025 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0108 a0001c0001t0002g0201 a0001c0001t0003g0189 a0001c0001t0004g0163 a0001c0001t0004g0171 a0002c0004t0001g0022 a0002c0004t0001g0041 a0002c0004t0001g0068 a0002c0004t0001g0082 a0002c0004t0002g0008 a0002c0004t0002g0023 a0002c0004t0002g0073 a0002c0004t0002g0074 a0002c0004t0004g0170 a0005c0008t0003g0194 a0008c0024t0001g0081 a0009c0022t0001g0080	23	206	0.1117	-3	c.430 others(20): Show c.430-2374_430-2372delTAA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244569651	ATTC ATTC	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp2 HG01346.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0043 a0001c0001t0003g0188 a0001c0001t0001g0043 a0001c0001t0003g0188	2	206	0.0097	-3	c.150 others(22): Show c.1508-2676_1508-2674delCTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244615950	TAAA TAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01928.hp1 others(8): Show HG00280.hp1 HG00621.hp1 HG01928.hp1 HG02015.hp1 HG02083.hp2 HG02273.hp2 HG03834.hp1 HG03927.hp2 NA18966.hp1 NA18975.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0110 others(8): Show a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0002g0048 a0001c0001t0002g0060 a0001c0001t0002g0108 a0001c0001t0003g0156 a0001c0001t0003g0178 a0001c0002t0001g0052	11	206	0.0534	-3	c.249 others(22): Show c.2491-1560_2491-1558delAAA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621060	AAAT AAAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp2 HG02922.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0021 a0001c0003 a0002c0021	a0001c0003t0001 a0002c0021t0001 a0001c0003t0001 a0002c0021t0001	a0001c0003t0001g0044 a0002c0021t0001g0065 a0001c0003t0001g0044 a0002c0021t0001g0065	2	206	0.0097	-3	c.264 others(22): Show c.2648+3376_2648+3378delATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621071	AAAT AAAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp1 HG03098.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0021 a0001c0001 a0001c0003 a0002c0021	a0001c0001t0001 a0001c0003t0001 a0002c0021t0001 a0001c0001t0001 a0001c0003t0001 a0002c0021t0001	a0001c0001t0001g0135 a0001c0003t0001g0044 a0002c0021t0001g0065 a0001c0001t0001g0135 a0001c0003t0001g0044 a0002c0021t0001g0065	3	206	0.0146	-3	c.264 others(22): Show c.2648+3387_2648+3389delATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621100	ATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp1 HG03098.hp2 HG02922.hp2 HG03098.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0021 a0001c0001 a0001c0003 a0002c0021	a0001c0001t0001 a0001c0003t0001 a0002c0021t0001 a0001c0001t0001 a0001c0003t0001 a0002c0021t0001	a0001c0001t0001g0135 a0001c0003t0001g0044 a0002c0021t0001g0065 a0001c0001t0001g0135 a0001c0003t0001g0044 a0002c0021t0001g0065	3	206	0.0146	-3	c.264 others(22): Show c.2648+3415_2648+3417delTAT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621117	ATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03471.hp1 NA19043.hp2 HG01934.hp1 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0051 a0001c0002t0001g0088 a0001c0002t0002g0004 a0001c0001t0002g0051 a0001c0002t0001g0088 a0001c0002t0002g0004	3	206	0.0146	-3	c.264 others(22): Show c.2648+3432_2648+3434delTAT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621136	TAAA TAAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03831.hp2 HG03834.hp2 others(2): Show HG01496.hp2 HG03831.hp2 HG03834.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0094 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0102	5	206	0.0243	-3	c.264 others(22): Show c.2648+3452_2648+3454delAAA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244641670	AGAT AGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02818.hp1 HG03041.hp1 others(1): Show HG02717.hp2 HG02818.hp1 HG03041.hp1 HG03540.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0020 a0002c0004 a0004c0009 a0001c0020 a0002c0004 a0004c0009	a0001c0020t0004 a0002c0004t0004 a0004c0009t0002 a0001c0020t0004 a0002c0004t0004 a0004c0009t0002	a0001c0020t0004g0149 a0002c0004t0004g0170 a0002c0004t0004g0174 others(1): Show a0001c0020t0004g0149 a0002c0004t0004g0170 a0002c0004t0004g0174 a0004c0009t0002g0079	4	206	0.0194	-3	c.15 others(14): Show c.1590_*1592delGAT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding		1167		chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244644216	CTTT CTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01516.hp2 HG02896.hp1 others(2): Show HG01433.hp1 HG01516.hp2 HG02896.hp1 NA19007.hp2 NA19065.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0008 a0001c0001 a0001c0003 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0005c0008t0003	a0001c0001t0001g0090 a0001c0001t0001g0128 a0001c0001t0003g0177 others(2): Show a0001c0001t0001g0090 a0001c0001t0001g0128 a0001c0001t0003g0177 a0001c0003t0001g0089 a0005c0008t0003g0195	5	206	0.0243	-3	c.41 others(14): Show c.4136_*4138delTTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding		3713		chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38336839	AGGC AGGC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp1 HG01106.hp2 others(20): Show HG00673.hp2 HG00733.hp1 HG01106.hp2 HG02027.hp1 HG02080.hp2 HG02109.hp1 HG03130.hp2 HG03516.hp1 HG03654.hp2 NA18939.hp1 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18961.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18983.hp1 NA19011.hp2 NA19012.hp2 NA19060.hp1 NA19077.hp1 NA20300.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0007 a0001c0008 a0004c0006 others(2): Show a0001c0007 a0001c0008 a0004c0006 a0004c0018 a0011c0019	a0001c0007t0001 a0001c0008t0001 a0004c0006t0001 others(2): Show a0001c0007t0001 a0001c0008t0001 a0004c0006t0001 a0004c0018t0001 a0011c0019t0001	a0001c0007t0001g0006 a0001c0007t0001g0196 a0001c0007t0001g0197 others(19): Show a0001c0007t0001g0006 a0001c0007t0001g0196 a0001c0007t0001g0197 a0001c0007t0001g0198 a0001c0008t0001g0214 a0001c0008t0001g0215 a0004c0006t0001g0199 a0004c0006t0001g0200 a0004c0006t0001g0201 a0004c0006t0001g0202 a0004c0006t0001g0203 a0004c0006t0001g0204 a0004c0006t0001g0206 a0004c0006t0001g0207 a0004c0006t0001g0208 a0004c0006t0001g0209 a0004c0006t0001g0210 a0004c0006t0001g0211 a0004c0006t0001g0212 a0004c0006t0001g0213 a0004c0018t0001g0205 a0011c0019t0001g0218	23	376	0.0612	-3	c.-14 others(18): Show c.-14-376_-14-374delCGG	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38344898	TATA TATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02647.hp2 HG02109.hp2 HG02257.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0356 a0001c0001t0001g0359 a0001c0001t0001g0361	3	376	0.0080	-3	c.669 others(18): Show c.669+531_669+533delATA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28			chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38353027	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00597.hp1 others(91): Show HG00099.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp2 NA18955.hp2 NA18962.hp2 NA18963.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp1 NA18986.hp1 NA18991.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19062.hp1 NA19065.hp2 NA19068.hp1 NA19077.hp2 NA19080.hp2 NA19085.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0011	a0001c0005 a0001c0008 a0001c0013 others(6): Show a0001c0005 a0001c0008 a0001c0013 a0001c0017 a0001c0026 a0002c0003 a0004c0006 a0007c0011 a0011c0019	a0001c0005t0001 a0001c0008t0001 a0001c0013t0001 others(6): Show a0001c0005t0001 a0001c0008t0001 a0001c0013t0001 a0001c0017t0001 a0001c0026t0001 a0002c0003t0001 a0004c0006t0001 a0007c0011t0001 a0011c0019t0001	a0001c0005t0001g0003 a0001c0005t0001g0004 a0001c0005t0001g0005 others(88): Show a0001c0005t0001g0003 a0001c0005t0001g0004 a0001c0005t0001g0005 a0001c0005t0001g0014 a0001c0005t0001g0017 a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0020 a0001c0005t0001g0021 a0001c0005t0001g0022 a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0154 a0001c0005t0001g0155 a0001c0005t0001g0156 a0001c0005t0001g0157 a0001c0005t0001g0159 a0001c0005t0001g0161 a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0005t0001g0164 a0001c0005t0001g0165 a0001c0005t0001g0166 a0001c0005t0001g0167 a0001c0005t0001g0168 a0001c0005t0001g0169 a0001c0005t0001g0171 a0001c0005t0001g0172 a0001c0005t0001g0174 a0001c0005t0001g0176 a0001c0005t0001g0178 a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 a0001c0005t0001g0182 a0001c0005t0001g0184 a0001c0005t0001g0186 a0001c0005t0001g0187 a0001c0005t0001g0191 a0001c0005t0001g0192 a0001c0008t0001g0158 a0001c0008t0001g0189 a0001c0008t0001g0190 a0001c0013t0001g0175 a0001c0013t0001g0185 a0001c0017t0001g0153 a0001c0026t0001g0188 a0002c0003t0001g0029 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0095 a0004c0006t0001g0208 a0007c0011t0001g0075 a0007c0011t0001g0076 a0011c0019t0001g0218	94	376	0.2500	-3	c.997 others(18): Show c.997+618_997+620delAAA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38353534	GAAA GAAA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18974.hp2 NA18986.hp2 others(1): Show HG02165.hp2 NA18974.hp2 NA18986.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0235 a0001c0001t0001g0315 others(1): Show a0001c0001t0001g0222 a0001c0001t0001g0235 a0001c0001t0001g0315 a0001c0001t0001g0316	4	376	0.0106	-3	c.997 others(20): Show c.997+1104_997+1106delAAA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERG_chr19_38330830_38375943	38353712	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp1 NA18939.hp1 others(10): Show HG00673.hp2 HG02027.hp1 NA18939.hp1 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18974.hp1 NA18980.hp1 NA18983.hp1 NA19011.hp2 NA19012.hp2 NA19060.hp1 NA19077.hp1	a0004 a0011 a0004 a0011	a0004c0006 a0011c0019 a0004c0006 a0011c0019	a0004c0006t0001 a0011c0019t0001 a0004c0006t0001 a0011c0019t0001	a0004c0006t0001g0199 a0004c0006t0001g0200 a0004c0006t0001g0201 others(10): Show a0004c0006t0001g0199 a0004c0006t0001g0200 a0004c0006t0001g0201 a0004c0006t0001g0203 a0004c0006t0001g0204 a0004c0006t0001g0206 a0004c0006t0001g0207 a0004c0006t0001g0209 a0004c0006t0001g0210 a0004c0006t0001g0211 a0004c0006t0001g0212 a0004c0006t0001g0213 a0011c0019t0001g0218	13	376	0.0346	-3	c.998 others(18): Show c.998-995_998-993delGAA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERZ_chr11_64295358_64309770	64299050	GAAA GAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG02135.hp1 others(3): Show HG00738.hp1 HG01243.hp1 HG02135.hp1 HG03139.hp2 HG03225.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0006t0001g0002	6	392	0.0153	-3	c.-13 others(14): Show c.-1360_-1358delAAA	CATSPERZ	ENSG00000219435.6	transcript	ENST00000328404.8	protein_coding		1307		chr11	TogoVar
CAT_chr11_34433934_34477060	34460446	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18612.hp1 NA18980.hp2 others(4): Show HG02074.hp1 NA18612.hp1 NA18980.hp2 NA18985.hp1 NA18998.hp2 NA19010.hp2 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0254 a0001c0002t0001g0267 a0001c0002t0001g0011 a0001c0002t0001g0254 a0001c0002t0001g0267	7	424	0.0165	-3	c.105 others(20): Show c.1057-782_1057-780delTTT	CAT	ENSG00000121691.7	transcript	ENST00000241052.5	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAT_chr11_34433934_34477060	34473594	TCTC TCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(57): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00544.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01261.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 NA18941.hp2 NA18942.hp2 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp2 NA18986.hp1 NA18987.hp1 NA18995.hp1 NA18999.hp2 NA19012.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19078.hp1 NA19084.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 a0001c0001t0001 a0001c0001t0002 a0002c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0025 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0244 a0001c0001t0002g0232 a0002c0006t0001g0002	60	424	0.1415	-3	c.21 others(14): Show c.2162_*2164delCTC	CAT	ENSG00000121691.7	transcript	ENST00000241052.5	protein_coding		1535		chr11	TogoVar
CAT_chr11_34433934_34477060	34474067	AAAT AAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02818.hp2 others(6): Show HG02630.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0189 a0001c0001t0001g0190 others(5): Show a0001c0001t0001g0049 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0210	9	424	0.0212	-3	c.26 others(14): Show c.2635_*2637delAAT	CAT	ENSG00000121691.7	transcript	ENST00000241052.5	protein_coding		2008		chr11	TogoVar
CAV1_chr7_116520036_116566179	116523185	AAAG AAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02109.hp2 HG02602.hp1 others(8): Show HG00140.hp1 HG02109.hp2 HG02602.hp1 HG02622.hp1 HG03017.hp1 HG03453.hp2 HG03579.hp2 HG03710.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0059 a0001c0001t0001g0146 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0059 a0001c0001t0001g0146 a0001c0001t0001g0313 a0001c0001t0003g0314 a0001c0001t0004g0104 a0001c0001t0004g0315 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0008g0068 a0001c0002t0001g0270	11	342	0.0322	-3	c.-18 others(14): Show c.-1877_-1875delAAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1850		chr7	TogoVar
CAV1_chr7_116520036_116566179	116534393	ATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp1 HG01891.hp2 others(10): Show HG00733.hp2 HG01261.hp1 HG01891.hp2 HG02451.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp2 NA18946.hp2 NA18971.hp1 NA18982.hp2 NA18992.hp1 NA19012.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0015g0042	13	342	0.0380	-3	c.195 others(20): Show c.195+7706_195+7708delATT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555501	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03516.hp1 HG03927.hp2 others(4): Show HG02615.hp2 HG03516.hp1 HG03927.hp2 HG03942.hp2 NA18612.hp2 NA18953.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0047 a0001c0001t0001g0326 a0001c0001t0001g0328 others(4): Show a0001c0001t0001g0047 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0246 a0001c0001t0004g0027	7	342	0.0205	-3	c.196 others(20): Show c.196-3442_196-3440delGAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555505	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01993.hp1 HG02647.hp1 others(4): Show HG00735.hp2 HG01993.hp1 HG02647.hp1 HG02976.hp2 NA18998.hp2 NA19083.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0001g0124 a0001c0001t0001g0165 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0124 a0001c0001t0001g0165 a0001c0001t0002g0208 a0001c0001t0002g0216 a0001c0001t0002g0231 a0001c0001t0002g0244	7	342	0.0205	-3	c.196 others(20): Show c.196-3438_196-3436delGAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555513	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02040.hp1 HG02080.hp1 others(8): Show HG01517.hp2 HG02040.hp1 HG02080.hp1 HG03491.hp1 NA18955.hp2 NA18961.hp1 NA18970.hp1 NA18998.hp1 NA19067.hp1 NA19070.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0003t0003	a0001c0001t0001g0079 a0001c0001t0003g0115 a0001c0001t0003g0168 others(8): Show a0001c0001t0001g0079 a0001c0001t0003g0115 a0001c0001t0003g0168 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0289 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0017g0281 a0001c0003t0003g0178	11	342	0.0322	-3	c.196 others(20): Show c.196-3430_196-3428delGAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555519	AGAG AGAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01928.hp2 HG02004.hp1 others(11): Show HG00438.hp2 HG01928.hp2 HG02004.hp1 NA18940.hp2 NA18941.hp1 NA18947.hp2 NA18957.hp2 NA18979.hp1 NA18992.hp2 NA18999.hp1 NA19055.hp2 NA19066.hp1 NA19077.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0127 a0001c0001t0003g0128 others(11): Show a0001c0001t0003g0113 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0134 a0001c0001t0003g0138 a0001c0001t0003g0154 a0001c0001t0003g0174 a0001c0001t0003g0185 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0286 a0001c0001t0003g0290	14	342	0.0409	-3	c.196 others(20): Show c.196-3426_196-3424delGAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2			chr7	TogoVar
CAV1_chr7_116520036_116566179	116555521	AGAG AGAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02148.hp1 NA18747.hp2 HG00323.hp2 HG02148.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0175 a0001c0001t0003g0182 a0001c0001t0003g0170 a0001c0001t0003g0175 a0001c0001t0003g0182	3	342	0.0088	-3	c.196 others(20): Show c.196-3424_196-3422delGAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2			chr7	TogoVar
CAV1_chr7_116520036_116566179	116566004	ATTT ATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02486.hp1 HG02615.hp2 others(5): Show HG01496.hp2 HG02486.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp2 HG02970.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0036 a0001c0001t0004g0027 a0001c0001t0004g0066 others(5): Show a0001c0001t0001g0036 a0001c0001t0004g0027 a0001c0001t0004g0066 a0001c0001t0008g0061 a0001c0001t0008g0068 a0001c0001t0010g0306 a0001c0001t0010g0307 a0001c0001t0012g0019	8	342	0.0234	-3	c.67 others(14): Show c.6718_*6720delTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		4826		chr7	TogoVar
CAV3_chr3_8728802_8751758	8744445	ATTT ATTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01071.hp1 others(14): Show HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01175.hp2 HG01515.hp2 HG01517.hp1 HG02071.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03942.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0003t0014 a0001c0005t0003 others(2): Show a0001c0001t0001 a0001c0003t0014 a0001c0005t0003 a0001c0007t0005 a0002c0004t0002	a0001c0001t0001g0075 a0001c0001t0001g0173 a0001c0003t0014g0062 others(8): Show a0001c0001t0001g0075 a0001c0001t0001g0173 a0001c0003t0014g0062 a0001c0005t0003g0135 a0001c0007t0005g0042 a0001c0007t0005g0080 a0002c0004t0002g0014 a0002c0004t0002g0040 a0002c0004t0002g0072 a0002c0004t0002g0073 a0002c0004t0002g0172	17	476	0.0357	-3	c.115 others(20): Show c.115-1059_115-1057delTTT	CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CBARP_chr19_1223287_1243005	1236162	TCTC TCTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02630.hp2 others(4): Show HG01243.hp2 HG02559.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0022 a0001c0004t0003g0034 a0001c0004t0003g0093 others(1): Show a0001c0004t0003g0022 a0001c0004t0003g0034 a0001c0004t0003g0093 a0001c0004t0003g0094	7	408	0.0172	-3	c.-21 others(16): Show c.-21-44_-21-42delGAG	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	1/9			chr19	TogoVar
CBARP_chr19_1223287_1243005	1240757	TCCC TCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00642.hp2 others(15): Show HG00140.hp2 HG00280.hp2 HG00642.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG02004.hp1 HG02109.hp2 HG02145.hp1 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0061 a0002c0002t0002g0002 a0002c0002t0002g0043 a0001c0001t0001g0061 a0002c0002t0002g0002 a0002c0002t0002g0043	18	408	0.0441	-3	c.-30 others(14): Show c.-3026_-3024delGGG	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding		2753		chr19	TogoVar
CBARP_chr19_1223287_1243005	1240770	CCCG CCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01123.hp1 others(14): Show HG00558.hp2 HG00673.hp2 HG01123.hp1 HG01167.hp2 HG01257.hp2 HG01258.hp2 HG02132.hp2 HG02258.hp1 HG02647.hp2 NA18942.hp1 NA18949.hp1 NA18960.hp1 NA18971.hp2 NA18998.hp2 NA18999.hp2 NA19060.hp2 NA19065.hp2	a0000 a0001 a0000 a0001	a0000c0006 a0000c0015 a0001c0001 others(2): Show a0000c0006 a0000c0015 a0001c0001 a0001c0003 a0001c0007	a0000c0006t0001 a0000c0015t0001 a0001c0001t0001 others(2): Show a0000c0006t0001 a0000c0015t0001 a0001c0001t0001 a0001c0003t0001 a0001c0007t0001	a0000c0006t0001g0136 a0000c0015t0001g0118 a0001c0001t0001g0003 others(4): Show a0000c0006t0001g0136 a0000c0015t0001g0118 a0001c0001t0001g0003 a0001c0003t0001g0005 a0001c0003t0001g0016 a0001c0003t0001g0114 a0001c0007t0001g0017	17	408	0.0417	-3	c.-30 others(14): Show c.-3039_-3037delCGG	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding		2766		chr19	TogoVar
CBFA2T2_chr20_33485096_33655030	33494266	TATA TATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03471.hp2 HG03710.hp2 others(9): Show HG01891.hp1 HG03471.hp2 HG03710.hp2 NA18944.hp1 NA18960.hp1 NA18975.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19079.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0003t0001	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0279 others(9): Show a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0002t0002g0196 a0001c0002t0002g0211 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0009g0219 a0001c0002t0009g0290 a0001c0003t0001g0260	12	298	0.0403	-3	c.34+ others(18): Show c.34+3966_34+3968delATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10			chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33494268	TATA TATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00639.hp1 others(32): Show HG00099.hp1 HG00323.hp1 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG01106.hp1 HG01123.hp1 HG01256.hp2 HG01261.hp1 HG01515.hp2 HG02015.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02280.hp1 HG02683.hp1 HG02735.hp2 HG03491.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18956.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18988.hp2 NA19001.hp1 NA19005.hp1 NA19062.hp2 NA19064.hp2 NA19074.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0008 a0004c0007	a0001c0001t0001 a0001c0001t0014 a0001c0001t0041 others(7): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0041 a0001c0002t0002 a0001c0002t0009 a0001c0002t0020 a0001c0002t0045 a0001c0005t0002 a0002c0008t0002 a0004c0007t0002	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 others(32): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0014g0184 a0001c0001t0041g0273 a0001c0002t0002g0046 a0001c0002t0002g0161 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0009g0217 a0001c0002t0020g0271 a0001c0002t0045g0216 a0001c0005t0002g0179 a0001c0005t0002g0182 a0001c0005t0002g0186 a0002c0008t0002g0047 a0004c0007t0002g0055	35	298	0.1175	-3	c.34+ others(18): Show c.34+3968_34+3970delATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10			chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33494270	TATA TATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG02155.hp1 others(13): Show HG00438.hp2 HG00738.hp1 HG02155.hp1 HG02615.hp1 HG02698.hp2 HG03579.hp1 NA18970.hp2 NA18982.hp2 NA18983.hp1 NA19063.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19082.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0016 a0001c0002t0034 a0001c0003t0001	a0001c0001t0001g0224 a0001c0001t0003g0096 a0001c0001t0005g0146 others(13): Show a0001c0001t0001g0224 a0001c0001t0003g0096 a0001c0001t0005g0146 a0001c0001t0006g0157 a0001c0002t0002g0031 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0016g0170 a0001c0002t0034g0043 a0001c0003t0001g0229 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0233	16	298	0.0537	-3	c.34+ others(18): Show c.34+3970_34+3972delATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10			chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33513905	TTTG TTTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG03471.hp2 others(1): Show HG01891.hp1 HG02886.hp1 HG03471.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0245 a0001c0002t0002g0196 a0001c0002t0002g0206 others(1): Show a0001c0001t0001g0245 a0001c0002t0002g0196 a0001c0002t0002g0206 a0001c0002t0002g0211	4	298	0.0134	-3	c.34+ others(20): Show c.34+23619_34+23621delGTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar

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