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
CPNE1_chr20_35621044_35669900	35627187	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01515.hp1 HG01517.hp1 others(22): Show HG01074.hp2 HG01515.hp1 HG01517.hp1 HG02080.hp1 HG02559.hp2 HG02698.hp2 HG02738.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18952.hp2 NA18966.hp1 NA19240.hp2 NA21309.hp2	a0004 a0005 a0006 a0004 a0005 a0006	a0004c0004 a0004c0005 a0005c0006 others(1): Show a0004c0004 a0004c0005 a0005c0006 a0006c0007	a0004c0004t0001 a0004c0005t0001 a0005c0006t0001 others(1): Show a0004c0004t0001 a0004c0005t0001 a0005c0006t0001 a0006c0007t0001	a0004c0004t0001g0003 a0004c0004t0001g0010 a0004c0004t0001g0011 others(13): Show a0004c0004t0001g0003 a0004c0004t0001g0010 a0004c0004t0001g0011 a0004c0004t0001g0024 a0004c0004t0001g0026 a0004c0004t0001g0029 a0004c0004t0001g0030 a0004c0004t0001g0032 a0004c0005t0001g0009 a0004c0005t0001g0012 a0004c0005t0001g0028 a0004c0005t0001g0039 a0005c0006t0001g0014 a0005c0006t0001g0035 a0005c0006t0001g0036 a0006c0007t0001g0013	25	272	0.0919	5	c.123 others(20): Show c.1236+88_1236+92dupTTTTT	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	14/15			chr20	TogoVar
CPNE2_chr16_57087583_57153369	57114934	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01175.hp1 others(14): Show HG00280.hp2 HG00735.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG01891.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0094 others(14): Show a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0132 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0216 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0300 a0001c0001t0001g0313 a0001c0001t0002g0098 a0001c0001t0003g0306	17	362	0.0470	5	c.361 others(20): Show c.361-520_361-516dupAAAAA	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE2_chr16_57087583_57153369	57118332	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG03130.hp1 others(4): Show HG01099.hp1 HG01109.hp1 HG03130.hp1 NA18948.hp2 NA18963.hp2 NA19000.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0121 a0001c0001t0001g0182 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0121 a0001c0001t0001g0182 a0001c0001t0001g0273 a0001c0001t0001g0330 a0001c0002t0001g0134	7	362	0.0193	5	c.507 others(20): Show c.507+775_507+779dupTTTTT	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE3_chr8_86509435_86566498	86522548	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01433.hp1 HG02257.hp1 others(7): Show HG01175.hp2 HG01433.hp1 HG02257.hp1 HG02922.hp1 HG04199.hp1 HG06807.hp1 NA18965.hp2 NA19012.hp1 NA19065.hp2 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(3): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0002c0005t0004 a0002c0005t0005	a0001c0002t0002g0299 a0001c0002t0002g0330 a0001c0002t0002g0332 others(7): Show a0001c0002t0002g0299 a0001c0002t0002g0330 a0001c0002t0002g0332 a0001c0002t0002g0335 a0001c0002t0002g0337 a0001c0002t0003g0334 a0001c0002t0004g0336 a0001c0002t0009g0295 a0002c0005t0004g0333 a0002c0005t0005g0331	10	340	0.0294	5	c.-10 others(22): Show c.-10-5963_-10-5959dupTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86524681	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(73): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01243.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02083.hp2 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03942.hp1 HG04184.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18965.hp1 NA18969.hp1 NA18973.hp1 NA18975.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA19001.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19081.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0003 a0013c0018 a0001c0001 a0002c0003 a0013c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0017 a0002c0003t0004 a0002c0003t0005 a0013c0018t0003	a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 others(71): Show a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0264 a0001c0001t0001g0285 a0001c0001t0002g0004 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0286 a0001c0001t0003g0153 a0001c0001t0003g0199 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0003g0213 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0225 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0180 a0001c0001t0004g0201 a0001c0001t0004g0208 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0015g0263 a0001c0001t0017g0212 a0002c0003t0004g0198 a0002c0003t0004g0200 a0002c0003t0004g0216 a0002c0003t0004g0224 a0002c0003t0005g0214 a0002c0003t0005g0215 a0013c0018t0003g0223	76	340	0.2235	5	c.-10 others(22): Show c.-10-3839_-10-3835dupTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131743962	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02486.hp2 HG02602.hp2 others(1): Show HG01081.hp1 HG02486.hp2 HG02602.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0069	4	94	0.0426	5	c.181 others(24): Show c.181-20342_181-20338dupTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131751541	C C	CATTTG CATTTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01069.hp2 others(35): Show HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01496.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18960.hp2 NA18966.hp1 NA18982.hp1 NA18982.hp2 NA19007.hp1 NA19030.hp2 NA19083.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 a0001c0002t0014 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0005t0015 a0001c0006t0004	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0032 others(35): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0085 a0001c0001t0003g0034 a0001c0001t0005g0077 a0001c0001t0007g0002 a0001c0001t0013g0017 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0003g0063 a0001c0002t0012g0025 a0001c0002t0014g0065 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0001g0044 a0001c0003t0003g0062 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0002g0081 a0001c0004t0010g0086 a0001c0005t0015g0091 a0001c0006t0004g0008	38	94	0.4043	5	c.181 others(24): Show c.181-27917_181-27916insCAAAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131799919	T T	TGTGTG TGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02451.hp2 HG03209.hp1 others(4): Show HG00738.hp2 HG02451.hp2 HG03209.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0001t0001 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0002t0001g0006 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0002t0001g0006 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0003t0002g0089	7	94	0.0745	5	c.181 others(24): Show c.181-76295_181-76294insCACAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131872954	T T	TATTAA TATTAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG04199.hp1 HG04228.hp1 HG01069.hp2 HG04199.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0077 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0001t0005g0077 a0001c0002t0001g0048 a0001c0002t0001g0049	3	94	0.0319	5	c.180 others(24): Show c.180+32309_180+32310insTTAAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131882723	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01496.hp1 HG01884.hp2 others(12): Show HG01169.hp2 HG01496.hp1 HG01884.hp2 HG02602.hp1 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG04228.hp2 NA18939.hp1 NA18946.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0043 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0003g0037 a0001c0001t0005g0084 a0001c0001t0007g0002 a0001c0001t0008g0064 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0002g0082 a0001c0002t0014g0065 a0001c0005t0001g0012	15	94	0.1596	5	c.180 others(24): Show c.180+22536_180+22540dupAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131925553	G G	GAAGGA GAAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01069.hp2 others(63): Show HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01169.hp2 HG01496.hp1 HG01884.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18982.hp1 NA18982.hp2 NA18990.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19083.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0005t0001 a0001c0005t0015 a0001c0006t0004	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 others(63): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0001t0007g0002 a0001c0001t0008g0064 a0001c0001t0008g0066 a0001c0001t0009g0067 a0001c0001t0013g0017 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0002g0082 a0001c0002t0009g0068 a0001c0002t0014g0065 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0001g0044 a0001c0003t0002g0071 a0001c0003t0002g0089 a0001c0003t0003g0045 a0001c0003t0003g0062 a0001c0003t0010g0087 a0001c0003t0016g0092 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0004t0002g0081 a0001c0004t0010g0086 a0001c0005t0001g0012 a0001c0005t0015g0091 a0001c0006t0004g0008	66	94	0.7021	5	c.-1- others(22): Show c.-1-20110_-1-20109insTCCTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131945203	A A	ACTTAT ACTTAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01069.hp2 others(60): Show HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01169.hp2 HG01496.hp1 HG01884.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18982.hp1 NA18990.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19083.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0005t0001 a0001c0005t0015 a0001c0006t0004	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 others(60): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0001t0008g0064 a0001c0001t0008g0066 a0001c0001t0009g0067 a0001c0001t0013g0017 a0001c0002t0001g0006 a0001c0002t0001g0020 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0002g0082 a0001c0002t0009g0068 a0001c0002t0014g0065 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0001g0044 a0001c0003t0002g0071 a0001c0003t0002g0089 a0001c0003t0003g0045 a0001c0003t0003g0062 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0004t0002g0081 a0001c0004t0010g0086 a0001c0005t0001g0012 a0001c0005t0015g0091 a0001c0006t0004g0008	63	94	0.6702	5	c.-1- others(22): Show c.-1-39764_-1-39760dupATAAG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131947203	A A	AGTTTT AGTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp2 HG02258.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0011 a0001c0001t0001g0021	2	94	0.0213	5	c.-1- others(22): Show c.-1-41764_-1-41760dupAAAAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978201	T T	TGTAAA TGTAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG03209.hp2 HG02559.hp2 HG03098.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0008g0066 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0001t0008g0066 a0001c0002t0001g0013 a0001c0002t0001g0020	3	94	0.0319	5	c.-2+ others(22): Show c.-2+56365_-2+56366insTTTAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978218	A A	ATTTAT ATTTAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG02647.hp1 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0044 a0001c0003t0003g0045 a0001c0003t0001g0044 a0001c0003t0003g0045	2	94	0.0213	5	c.-2+ others(22): Show c.-2+56348_-2+56349insATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978298	A A	ATATAT ATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02895.hp1 others(2): Show HG02258.hp1 HG02559.hp1 HG02895.hp1 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0010 a0001c0001t0001 a0001c0003t0010	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0003t0010g0087	5	94	0.0532	5	c.-2+ others(22): Show c.-2+56268_-2+56269insATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978336	A A	ATATTT ATATTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp2 HG02486.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0056 a0001c0004t0001g0055 a0001c0001t0001g0056 a0001c0004t0001g0055	2	94	0.0213	5	c.-2+ others(22): Show c.-2+56230_-2+56231insAAATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132032733	G G	GAATAA GAATAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01069.hp1 others(83): Show HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01169.hp1 HG01169.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18990.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19083.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0012 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0005t0001 a0001c0005t0004 a0001c0005t0015 a0001c0006t0004	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(83): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0001t0008g0064 a0001c0001t0008g0066 a0001c0001t0009g0067 a0001c0001t0013g0017 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0002g0082 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0009g0068 a0001c0002t0012g0025 a0001c0002t0014g0065 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0001g0044 a0001c0003t0002g0071 a0001c0003t0002g0089 a0001c0003t0003g0045 a0001c0003t0003g0062 a0001c0003t0010g0087 a0001c0003t0016g0092 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0004t0002g0081 a0001c0004t0010g0086 a0001c0005t0001g0012 a0001c0005t0004g0024 a0001c0005t0004g0026 a0001c0005t0015g0091 a0001c0006t0004g0008	86	94	0.9149	5	c.-2+ others(20): Show c.-2+1833_-2+1834insTTATT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36751801	T T	TAAATA TAAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00642.hp1 others(31): Show HG00423.hp1 HG00609.hp1 HG00642.hp1 HG00735.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG02027.hp2 HG02148.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18960.hp1 NA18965.hp2 NA18967.hp2 NA18972.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19083.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0009 a0001c0001 a0002c0005 a0003c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0002c0005t0004 a0003c0009t0004	a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 others(31): Show a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0034 a0001c0001t0004g0135 a0001c0001t0004g0156 a0001c0001t0004g0168 a0001c0001t0004g0172 a0001c0001t0004g0179 a0001c0001t0004g0189 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0232 a0001c0001t0004g0238 a0001c0001t0004g0289 a0001c0001t0004g0307 a0001c0001t0004g0309 a0001c0001t0004g0336 a0001c0001t0004g0340 a0001c0001t0004g0343 a0001c0001t0004g0350 a0001c0001t0004g0356 a0001c0001t0004g0367 a0001c0001t0004g0369 a0001c0001t0013g0335 a0001c0001t0014g0221 a0002c0005t0004g0230 a0002c0005t0004g0304 a0002c0005t0004g0306 a0003c0009t0004g0262 a0003c0009t0004g0263	34	380	0.0895	5	c.971 others(22): Show c.971+1228_971+1232dupTATTT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	14/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36831638	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp1 HG01258.hp1 others(20): Show HG00438.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG01928.hp2 HG02015.hp2 HG02027.hp1 HG02145.hp2 HG02273.hp1 HG03579.hp2 NA18943.hp2 NA18947.hp1 NA18960.hp1 NA18961.hp1 NA18971.hp2 NA18975.hp2 NA18983.hp2 NA18985.hp2 NA19004.hp1 NA19060.hp1 NA19063.hp1 NA19074.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0007 a0001c0003t0002	a0001c0001t0001g0354 a0001c0001t0001g0363 a0001c0001t0001g0364 others(20): Show a0001c0001t0001g0354 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0002g0353 a0001c0001t0003g0008 a0001c0001t0003g0201 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0367 a0001c0001t0004g0369 a0001c0002t0002g0203 a0001c0002t0002g0355 a0001c0002t0007g0206 a0001c0003t0002g0202 a0001c0003t0002g0360 a0001c0003t0002g0361 a0001c0003t0002g0362 a0001c0003t0002g0365 a0001c0003t0002g0368	23	380	0.0605	5	c.95+ others(20): Show c.95+7640_95+7644dupTTTTT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	1/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36834254	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01261.hp2 others(28): Show HG01070.hp1 HG01071.hp2 HG01261.hp2 HG01952.hp2 HG02257.hp2 HG02523.hp2 HG02615.hp1 HG02922.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03834.hp1 NA18522.hp2 NA18945.hp2 NA18956.hp1 NA18962.hp1 NA18982.hp2 NA18984.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19081.hp2 NA19084.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0016 a0001c0004t0002	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0274 others(28): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0003g0279 a0001c0001t0003g0287 a0001c0001t0003g0299 a0001c0001t0004g0289 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0288 a0001c0001t0005g0291 a0001c0001t0005g0298 a0001c0001t0006g0207 a0001c0002t0001g0275 a0001c0002t0001g0292 a0001c0002t0001g0294 a0001c0002t0002g0276 a0001c0002t0006g0313 a0001c0002t0016g0296 a0001c0004t0002g0295	31	380	0.0816	5	c.95+ others(20): Show c.95+5024_95+5028dupTTTTT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	1/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36842170	A A	AAAAAG AAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0196 a0001c0001t0003g0287 a0001c0001t0001g0014 a0001c0001t0001g0196 a0001c0001t0003g0287	3	380	0.0079	5	c.-27 others(16): Show c.-2794_-2793insCTTTT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding		2727		chr6	TogoVar
CPNE7_chr16_89570758_89602246	89586544	G G	GCCCTC GCCCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp2 HG02896.hp2 others(3): Show HG02258.hp1 HG02809.hp2 HG02896.hp2 HG03471.hp1 HG03516.hp2 NA19009.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0004c0021 a0001c0002 a0002c0003 a0004c0021	a0001c0002t0001 a0001c0002t0004 a0002c0003t0003 others(1): Show a0001c0002t0001 a0001c0002t0004 a0002c0003t0003 a0004c0021t0001	a0001c0002t0001g0322 a0001c0002t0004g0325 a0001c0002t0004g0326 others(3): Show a0001c0002t0001g0322 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0327 a0002c0003t0003g0139 a0004c0021t0001g0340	6	348	0.0172	5	c.781 others(20): Show c.781-112_781-108dupTCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587299	G G	GAGGAA GAGGAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp1 HG03139.hp1 others(3): Show HG02615.hp2 HG03041.hp1 HG03139.hp1 HG03453.hp2 HG03516.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0008 a0001c0009 others(1): Show a0001c0002 a0001c0008 a0001c0009 a0007c0029	a0001c0002t0001 a0001c0002t0004 a0001c0008t0001 others(3): Show a0001c0002t0001 a0001c0002t0004 a0001c0008t0001 a0001c0008t0005 a0001c0009t0001 a0007c0029t0001	a0001c0002t0001g0322 a0001c0002t0004g0271 a0001c0008t0001g0005 others(3): Show a0001c0002t0001g0322 a0001c0002t0004g0271 a0001c0008t0001g0005 a0001c0008t0005g0014 a0001c0009t0001g0011 a0007c0029t0001g0017	6	348	0.0172	5	c.927 others(20): Show c.927+197_927+198insAGGAA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TTCCCC TTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01261.hp2 others(11): Show HG01081.hp2 HG01099.hp1 HG01261.hp2 HG01517.hp2 HG01891.hp2 HG02145.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03579.hp1 HG03688.hp2 HG04204.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0008t0002	a0001c0001t0001g0089 a0001c0002t0002g0022 a0001c0002t0002g0023 others(11): Show a0001c0001t0001g0089 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0046 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0264 a0001c0002t0002g0278 a0001c0002t0002g0329 a0001c0002t0002g0338 a0001c0002t0009g0328 a0001c0008t0002g0010 a0001c0008t0002g0015	14	348	0.0402	5	c.13 others(16): Show c.1315_*1316insTCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCG CCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01884.hp1 HG02055.hp2 others(34): Show HG00642.hp2 HG01884.hp1 HG02055.hp2 HG02129.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18982.hp1 NA18990.hp2 NA19004.hp2 NA19009.hp2 NA19065.hp2 NA19074.hp2 NA19087.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0027 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(6): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0007t0006 a0001c0009t0001 a0001c0027t0001 a0002c0003t0003 a0003c0006t0003	a0001c0001t0001g0007 a0001c0001t0001g0068 a0001c0001t0001g0069 others(34): Show a0001c0001t0001g0007 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0120 a0001c0001t0001g0220 a0001c0001t0001g0336 a0001c0002t0003g0260 a0001c0002t0004g0325 a0001c0002t0005g0019 a0001c0002t0005g0020 a0001c0002t0005g0074 a0001c0002t0005g0289 a0001c0002t0005g0291 a0001c0002t0005g0292 a0001c0007t0006g0064 a0001c0007t0006g0071 a0001c0007t0006g0157 a0001c0007t0006g0158 a0001c0007t0006g0159 a0001c0007t0006g0160 a0001c0007t0006g0161 a0001c0007t0006g0162 a0001c0007t0006g0165 a0001c0007t0006g0166 a0001c0007t0006g0259 a0001c0007t0006g0282 a0001c0007t0006g0293 a0001c0009t0001g0011 a0001c0009t0001g0013 a0001c0027t0001g0218 a0002c0003t0003g0073 a0002c0003t0003g0125 a0002c0003t0003g0137 a0002c0003t0003g0139 a0002c0003t0003g0170 a0003c0006t0003g0147	37	348	0.1063	5	c.13 others(16): Show c.1317_*1318insCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CPNE8_chr12_38647203_38910591	38654514	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp1 others(20): Show HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG02040.hp1 HG02071.hp2 HG02083.hp2 HG02145.hp1 HG02257.hp1 HG02622.hp2 HG02809.hp2 HG03927.hp2 HG04184.hp2 HG06807.hp2 NA18978.hp2 NA18995.hp2 NA19007.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0024	a0001c0001t0003g0057 a0001c0001t0003g0176 a0001c0001t0003g0182 others(20): Show a0001c0001t0003g0057 a0001c0001t0003g0176 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0189 a0001c0001t0003g0199 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0220 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0219 a0001c0001t0013g0298 a0001c0001t0014g0051 a0001c0001t0014g0177 a0001c0001t0024g0178	23	342	0.0673	5	c.150 others(22): Show c.1507-449_1507-445dupTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	19/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38710268	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(64): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG00735.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02132.hp2 HG02273.hp1 HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18975.hp1 NA18977.hp1 NA18990.hp1 NA18993.hp2 NA19009.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0019 a0001c0002t0025 a0001c0005t0002	a0001c0001t0002g0073 a0001c0001t0002g0276 a0001c0001t0004g0030 others(64): Show a0001c0001t0002g0073 a0001c0001t0002g0276 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0004g0059 a0001c0001t0004g0155 a0001c0001t0004g0243 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0275 a0001c0001t0004g0277 a0001c0001t0004g0291 a0001c0001t0004g0326 a0001c0001t0005g0226 a0001c0001t0012g0227 a0001c0001t0012g0229 a0001c0001t0012g0231 a0001c0001t0017g0171 a0001c0001t0018g0273 a0001c0001t0018g0286 a0001c0001t0027g0170 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0020 a0001c0002t0002g0029 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0044 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0076 a0001c0002t0002g0100 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0340 a0001c0002t0004g0056 a0001c0002t0004g0066 a0001c0002t0004g0297 a0001c0002t0008g0008 a0001c0002t0008g0027 a0001c0002t0008g0032 a0001c0002t0008g0216 a0001c0002t0019g0048 a0001c0002t0025g0063 a0001c0005t0002g0074	67	342	0.1959	5	c.915 others(22): Show c.915-7352_915-7348dupTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38736234	T T	TGTGTG TGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp1 HG06807.hp1 others(1): Show HG00741.hp2 HG02109.hp1 HG06807.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0005 a0001c0001t0005 a0002c0004t0005	a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0341 others(1): Show a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0341 a0002c0004t0005g0342	4	342	0.0117	5	c.723 others(22): Show c.723-5877_723-5876insCACAC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38756039	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02145.hp1 others(4): Show HG01109.hp1 HG01884.hp2 HG02145.hp1 HG02257.hp1 HG02622.hp2 HG02809.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 others(4): Show a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0006g0181	7	342	0.0205	5	c.722 others(22): Show c.722+4803_722+4807dupTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902368	G G	GAAAGA GAAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG02723.hp1 others(6): Show HG00642.hp1 HG00735.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03239.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0003t0011 a0001c0005t0002	a0001c0001t0001g0107 a0001c0001t0004g0259 a0001c0001t0005g0311 others(6): Show a0001c0001t0001g0107 a0001c0001t0004g0259 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0003t0011g0001 a0001c0005t0002g0074	9	342	0.0263	5	c.98+ others(20): Show c.98+3064_98+3068dupTCTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902376	G G	GAAAGA GAAAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 HG03195.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0155 a0001c0001t0009g0154 a0001c0001t0009g0236 a0001c0001t0004g0155 a0001c0001t0009g0154 a0001c0001t0009g0236	3	342	0.0088	5	c.98+ others(20): Show c.98+3056_98+3060dupTCTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902381	A A	AGAAAG AGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp1 HG01943.hp2 others(13): Show HG00735.hp2 HG01071.hp1 HG01943.hp2 HG02004.hp1 HG02055.hp2 HG02109.hp1 HG02559.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03139.hp1 HG03239.hp1 HG06807.hp1 NA18906.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0003t0011 a0002c0004t0005	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(13): Show a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0007g0336 a0001c0003t0011g0001 a0002c0004t0005g0342	16	342	0.0468	5	c.98+ others(20): Show c.98+3055_98+3056insCTTTC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPO_chr2_206934518_206974474	206963821	C C	CTCTCT CTCTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(258): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010 a0011 a0012 a0014	a0001c0001 a0001c0004 a0002c0002 others(13): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0008 a0002c0013 a0003c0005 a0003c0006 a0003c0007 a0004c0009 a0006c0018 a0009c0012 a0010c0019 a0011c0020 a0012c0016 a0014c0014	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0001 a0002c0003t0001 a0002c0008t0001 a0002c0013t0001 a0003c0005t0001 a0003c0006t0001 a0003c0007t0001 a0004c0009t0001 a0006c0018t0001 a0009c0012t0001 a0010c0019t0001 a0011c0020t0001 a0012c0016t0001 a0014c0014t0001	a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0032 others(216): Show a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0251 a0001c0001t0001g0278 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0002g0297 a0001c0004t0001g0004 a0001c0004t0001g0006 a0001c0004t0001g0019 a0001c0004t0001g0031 a0001c0004t0001g0033 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0047 a0001c0004t0001g0101 a0001c0004t0001g0107 a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0004t0001g0112 a0001c0004t0001g0113 a0001c0004t0001g0116 a0001c0004t0001g0130 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0159 a0001c0004t0001g0273 a0001c0004t0001g0286 a0001c0004t0001g0292 a0001c0004t0001g0293 a0001c0004t0001g0294 a0001c0004t0001g0295 a0001c0004t0001g0296 a0001c0004t0001g0298 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0029 a0002c0002t0001g0050 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0126 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0177 a0002c0002t0001g0215 a0002c0002t0001g0250 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0308 a0002c0002t0001g0314 a0002c0002t0001g0331 a0002c0002t0001g0340 a0002c0003t0001g0013 a0002c0003t0001g0028 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0049 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0001g0099 a0002c0003t0001g0114 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0263 a0002c0003t0001g0300 a0002c0003t0001g0326 a0002c0003t0001g0327 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0001g0330 a0002c0003t0001g0332 a0002c0003t0001g0333 a0002c0003t0001g0334 a0002c0003t0001g0335 a0002c0003t0001g0336 a0002c0003t0001g0337 a0002c0003t0001g0338 a0002c0003t0001g0339 a0002c0003t0001g0342 a0002c0003t0001g0343 a0002c0003t0001g0344 a0002c0003t0001g0345 a0002c0003t0001g0346 a0002c0003t0001g0347 a0002c0003t0001g0348 a0002c0003t0001g0349 a0002c0003t0001g0350 a0002c0003t0001g0351 a0002c0003t0001g0352 a0002c0003t0001g0353 a0002c0003t0001g0354 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0001g0358 a0002c0003t0001g0359 a0002c0003t0001g0362 a0002c0008t0001g0098 a0002c0008t0001g0104 a0002c0008t0001g0108 a0002c0008t0001g0277 a0002c0013t0001g0102 a0003c0005t0001g0075 a0003c0005t0001g0097 a0003c0005t0001g0109 a0003c0005t0001g0119 a0003c0005t0001g0125 a0003c0005t0001g0127 a0003c0005t0001g0161 a0003c0005t0001g0254 a0003c0005t0001g0257 a0003c0005t0001g0261 a0003c0005t0001g0290 a0003c0006t0001g0011 a0003c0006t0001g0054 a0003c0006t0001g0128 a0003c0006t0001g0259 a0003c0006t0001g0281 a0003c0006t0001g0285 a0003c0007t0001g0009 a0003c0007t0001g0163 a0003c0007t0001g0173 a0004c0009t0001g0020 a0004c0009t0001g0160 a0006c0018t0001g0048 a0009c0012t0001g0123 a0010c0019t0001g0131 a0011c0020t0001g0132 a0012c0016t0001g0310 a0014c0014t0001g0241	261	422	0.6185	5	c.777 others(22): Show c.777+1208_777+1209insCTCTT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPPED1_chr16_12654799_12808887	12656478	A A	ATTATT ATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02257.hp2 others(1): Show HG01884.hp1 HG01891.hp1 HG02257.hp2 HG03130.hp2	a0004 a0012 a0004 a0012	a0004c0004 a0012c0014 a0004c0004 a0012c0014	a0004c0004t0013 a0012c0014t0013 a0004c0004t0013 a0012c0014t0013	a0004c0004t0013g0063 a0004c0004t0013g0085 a0004c0004t0013g0091 others(1): Show a0004c0004t0013g0063 a0004c0004t0013g0085 a0004c0004t0013g0091 a0012c0014t0013g0060	4	290	0.0138	5	c.84 others(16): Show c.8407_*8408insAATAA	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding		3320		chr16	TogoVar
CPPED1_chr16_12654799_12808887	12740025	G G	GAAAGA GAAAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02257.hp2 others(4): Show HG01884.hp1 HG02055.hp2 HG02257.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0004 a0002c0002t0011 a0002c0002t0022 others(3): Show a0002c0002t0004 a0002c0002t0011 a0002c0002t0022 a0002c0002t0049 a0002c0002t0060 a0004c0004t0013	a0002c0002t0004g0012 a0002c0002t0011g0080 a0002c0002t0022g0070 others(4): Show a0002c0002t0004g0012 a0002c0002t0011g0080 a0002c0002t0022g0070 a0002c0002t0049g0062 a0002c0002t0060g0084 a0004c0004t0013g0085 a0004c0004t0013g0091	7	290	0.0241	5	c.290 others(24): Show c.290-34981_290-34977dupTCTTT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12786405	C C	CTAAAA CTAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00558.hp1 others(50): Show HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG01109.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp2 HG02015.hp1 HG02129.hp1 HG02257.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03453.hp2 HG03669.hp2 HG03831.hp2 NA18941.hp1 NA18950.hp1 NA18955.hp2 NA18965.hp2 NA18969.hp1 NA18982.hp1 NA18982.hp2 NA19003.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19062.hp1 NA19066.hp2 NA19070.hp2 NA19079.hp2 NA19090.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0016 a0017 a0019	a0001c0001 a0002c0002 a0002c0006 others(8): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0004c0004 a0005c0005 a0008c0010 a0009c0017 a0016c0008 a0017c0011 a0019c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0011 a0002c0002t0015 a0002c0002t0027 a0002c0002t0050 a0002c0002t0060 a0002c0002t0066 a0002c0006t0010 a0003c0003t0002 a0004c0004t0002 a0004c0004t0006 a0004c0004t0013 a0004c0004t0018 a0005c0005t0017 a0005c0005t0028 a0005c0005t0043 a0008c0010t0002 a0009c0017t0001 a0016c0008t0040 a0017c0011t0001 a0019c0016t0041	a0001c0001t0001g0138 a0001c0001t0001g0206 a0001c0001t0001g0265 others(50): Show a0001c0001t0001g0138 a0001c0001t0001g0206 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0004g0288 a0001c0001t0005g0267 a0001c0001t0008g0186 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0109 a0002c0002t0003g0095 a0002c0002t0003g0101 a0002c0002t0003g0104 a0002c0002t0003g0108 a0002c0002t0004g0012 a0002c0002t0004g0014 a0002c0002t0004g0015 a0002c0002t0004g0056 a0002c0002t0005g0096 a0002c0002t0008g0047 a0002c0002t0008g0048 a0002c0002t0011g0080 a0002c0002t0015g0016 a0002c0002t0015g0083 a0002c0002t0027g0013 a0002c0002t0050g0093 a0002c0002t0060g0084 a0002c0002t0066g0045 a0002c0006t0010g0044 a0003c0003t0002g0166 a0003c0003t0002g0187 a0003c0003t0002g0211 a0003c0003t0002g0278 a0003c0003t0002g0284 a0004c0004t0002g0004 a0004c0004t0002g0049 a0004c0004t0002g0100 a0004c0004t0002g0103 a0004c0004t0002g0110 a0004c0004t0006g0097 a0004c0004t0013g0063 a0004c0004t0013g0085 a0004c0004t0018g0099 a0004c0004t0018g0102 a0005c0005t0017g0107 a0005c0005t0028g0094 a0005c0005t0028g0105 a0005c0005t0043g0098 a0008c0010t0002g0007 a0009c0017t0001g0276 a0016c0008t0040g0106 a0017c0011t0001g0008 a0019c0016t0041g0285	53	290	0.1828	5	c.71- others(20): Show c.71-5003_71-5002insTTTTA	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	1/3			chr16	TogoVar
CPQ_chr8_96640242_97148501	96758131	C C	CTAAAT CTAAAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02965.hp2 HG02004.hp2 HG02965.hp2	a0006 a0007 a0006 a0007	a0006c0010 a0007c0012 a0006c0010 a0007c0012	a0006c0010t0001 a0007c0012t0004 a0006c0010t0001 a0007c0012t0004	a0006c0010t0001g0045 a0007c0012t0004g0090 a0006c0010t0001g0045 a0007c0012t0004g0090	2	126	0.0159	5	c.-34 others(24): Show c.-34-26733_-34-26732insTAAAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7			chr8	TogoVar
CPQ_chr8_96640242_97148501	96778280	A A	ATTATT ATTATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp2 HG02004.hp2 others(13): Show HG00733.hp2 HG01261.hp2 HG02004.hp2 HG02055.hp1 HG02257.hp2 HG02280.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02965.hp2 HG03453.hp1 HG03516.hp1 HG03579.hp2 HG03927.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0003c0005 a0006c0010 a0007c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 a0003c0005t0001 a0006c0010t0001 a0007c0012t0004	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0028 others(13): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0110 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0040 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0002g0004 a0001c0007t0001g0038 a0003c0005t0001g0007 a0006c0010t0001g0045 a0007c0012t0004g0090	16	126	0.1270	5	c.-34 others(22): Show c.-34-6582_-34-6581insATTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96854557	A A	AAACAC AAACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG01981.hp1 others(17): Show HG01255.hp1 HG01884.hp2 HG01981.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02922.hp2 HG03195.hp2 HG03927.hp2 NA18747.hp1 NA18962.hp1 NA18989.hp2 NA18990.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0117 others(17): Show a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0117 a0001c0001t0002g0021 a0001c0001t0002g0067 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0111 a0001c0002t0001g0113 a0002c0003t0001g0008 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0087 a0002c0003t0001g0089 a0003c0005t0001g0068	20	126	0.1587	5	c.641 others(24): Show c.641+19379_641+19380insCACAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96911203	T T	TACAAA TACAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01943.hp2 HG01975.hp1 others(5): Show HG01261.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02273.hp1 HG03017.hp2 HG03225.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0001 a0001c0002t0002 a0004c0006t0001 a0001c0002t0001 a0001c0002t0002 a0004c0006t0001	a0001c0002t0001g0025 a0001c0002t0001g0055 a0001c0002t0001g0059 others(5): Show a0001c0002t0001g0025 a0001c0002t0001g0055 a0001c0002t0001g0059 a0001c0002t0001g0081 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0082 a0004c0006t0001g0074	8	126	0.0635	5	c.849 others(24): Show c.849+31212_849+31216dupAAACA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96958451	T T	TAAGAG TAAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01081.hp1 others(87): Show HG00099.hp1 HG00733.hp2 HG01081.hp1 HG01081.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18962.hp2 NA18964.hp1 NA18979.hp1 NA18979.hp2 NA18989.hp1 NA18990.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0003 a0003c0005 a0004c0006 a0005c0009 a0006c0010 a0007c0012 a0008c0011 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0002c0003t0001 a0003c0005t0001 a0004c0006t0001 a0005c0009t0001 a0006c0010t0001 a0007c0012t0004 a0008c0011t0002 a0009c0013t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 others(87): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0005g0083 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0001g0025 a0001c0002t0001g0040 a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0106 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0002g0004 a0001c0002t0002g0039 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0082 a0001c0002t0003g0001 a0001c0004t0001g0107 a0001c0004t0001g0114 a0001c0007t0001g0038 a0001c0008t0001g0116 a0002c0003t0001g0015 a0002c0003t0001g0053 a0002c0003t0001g0089 a0003c0005t0001g0007 a0003c0005t0001g0068 a0004c0006t0001g0074 a0004c0006t0001g0075 a0005c0009t0001g0062 a0006c0010t0001g0045 a0007c0012t0004g0090 a0008c0011t0002g0037 a0009c0013t0001g0043	90	126	0.7143	5	c.850 others(22): Show c.850-7480_850-7479insGAAGA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97122884	C C	CAATAA CAATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp1 HG02717.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0017 a0001c0001t0001g0041	2	126	0.0159	5	c.125 others(26): Show c.1256-20094_1256-20090dupATAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97122927	T T	TAAATA TAAATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18962.hp2 HG02040.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0076 a0001c0002t0001g0060 a0001c0001t0001g0076 a0001c0002t0001g0060	2	126	0.0159	5	c.125 others(26): Show c.1256-20043_1256-20039dupAAAAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97123002	T T	TATAAA TATAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp2 NA19030.hp2 others(1): Show HG02630.hp2 HG02965.hp2 NA19030.hp2 NA19043.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0012 a0001c0002 a0007c0012	a0001c0002t0001 a0007c0012t0004 a0001c0002t0001 a0007c0012t0004	a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 others(1): Show a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0007c0012t0004g0090	4	126	0.0318	5	c.125 others(26): Show c.1256-19997_1256-19993dupATAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97123024	T T	TAAATA TAAATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG01261.hp2 others(14): Show HG00099.hp2 HG01081.hp1 HG01261.hp2 HG01884.hp1 HG02040.hp1 HG02055.hp1 HG02273.hp2 HG02717.hp2 HG02723.hp2 HG03927.hp2 NA18747.hp2 NA18945.hp1 NA18962.hp2 NA18989.hp1 NA19012.hp1 NA19057.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0034 others(14): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0105 a0001c0001t0005g0083 a0001c0002t0001g0006 a0001c0002t0001g0025 a0001c0002t0001g0040 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0097 a0001c0002t0001g0122 a0001c0002t0003g0001	17	126	0.1349	5	c.125 others(26): Show c.1256-19978_1256-19974dupATAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97123206	A A	AAAAAT AAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG04184.hp2 NA18945.hp1 others(6): Show HG00099.hp1 HG04184.hp2 NA18945.hp1 NA18979.hp1 NA18990.hp1 NA19009.hp1 NA19012.hp1 NA19057.hp2 NA19084.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0001 a0001c0002t0003 a0005c0009t0001 a0001c0002t0001 a0001c0002t0003 a0005c0009t0001	a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0095 others(6): Show a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0106 a0001c0002t0001g0124 a0001c0002t0003g0001 a0005c0009t0001g0062	9	126	0.0714	5	c.125 others(26): Show c.1256-19785_1256-19781dupATAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPS1_chr2_210551599_210684107	210679734	C C	CTTTTT CTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp2 others(25): Show HG00140.hp1 HG00323.hp1 HG00639.hp2 HG00733.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02886.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03579.hp1 HG03704.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0011	a0001c0001 a0002c0002 a0002c0005 others(5): Show a0001c0001 a0002c0002 a0002c0005 a0002c0013 a0003c0003 a0004c0004 a0008c0014 a0011c0027	a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 others(12): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0002c0002t0008 a0002c0002t0012 a0002c0002t0021 a0002c0005t0008 a0002c0013t0007 a0003c0003t0004 a0004c0004t0005 a0008c0014t0007 a0011c0027t0016	a0001c0001t0007g0009 a0001c0001t0007g0031 a0001c0001t0007g0032 others(25): Show a0001c0001t0007g0009 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0046 a0001c0001t0007g0057 a0001c0001t0007g0066 a0001c0001t0007g0258 a0001c0001t0007g0305 a0001c0001t0007g0306 a0001c0001t0007g0307 a0001c0001t0008g0096 a0001c0001t0016g0327 a0001c0001t0017g0322 a0001c0001t0018g0053 a0001c0001t0025g0043 a0002c0002t0008g0142 a0002c0002t0008g0145 a0002c0002t0008g0188 a0002c0002t0012g0005 a0002c0002t0021g0236 a0002c0005t0008g0134 a0002c0013t0007g0073 a0003c0003t0004g0290 a0003c0003t0004g0330 a0004c0004t0005g0151 a0008c0014t0007g0061 a0008c0014t0007g0062 a0011c0027t0016g0304	28	340	0.0824	5	c.17 others(16): Show c.1749_*1750insTTTTT	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding		628		chr2	TogoVar
CPSF1_chr8_144388231_144414335	144400134	G G	GCCCCC GCCCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00544.hp2 others(33): Show HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG02071.hp2 HG02074.hp2 HG02165.hp1 HG02165.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG03017.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03688.hp1 NA18947.hp2 NA18963.hp1 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA19009.hp2 NA19056.hp1 NA19074.hp1 NA19084.hp2	a0001 a0011 a0019 a0001 a0011 a0019	a0001c0001 a0001c0006 a0011c0032 others(1): Show a0001c0001 a0001c0006 a0011c0032 a0019c0023	a0001c0001t0001 a0001c0006t0001 a0011c0032t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0011c0032t0001 a0019c0023t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0049 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0154 a0001c0006t0001g0035 a0011c0032t0001g0133 a0019c0023t0001g0119	36	350	0.1029	5	c.937 others(18): Show c.937+31_937+32insGGGGG	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	9/37			chr8	TogoVar
CPSF2_chr14_92116969_92177145	92117680	T T	TTTTTG TTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 NA19030.hp1 NA19075.hp1 others(2): Show HG01258.hp1 NA19030.hp1 NA19075.hp1 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0073 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0073 a0001c0001t0085 a0001c0001t0168	a0001c0001t0001g0162 a0001c0001t0003g0071 a0001c0001t0073g0003 others(2): Show a0001c0001t0001g0162 a0001c0001t0003g0071 a0001c0001t0073g0003 a0001c0001t0085g0154 a0001c0001t0168g0087	5	388	0.0129	5	c.-45 others(16): Show c.-4542_-4541insTTTTG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		4288		chr14	TogoVar

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