Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CPNE2_chr16_57087583_57153369	57094095	AGCTCCAG others(4): Show AGCTCCAGGACC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19043.hp2 HG02622.hp1 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0039 a0002c0004t0001g0040	2	362	0.0055	-11	c.-36 others(28): Show c.-36+1308_-36+1318delTCCAGGACCGC	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE3_chr8_86509435_86566498	86522548	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(90): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0017 a0002c0003t0004 a0002c0003t0005	a0001c0001t0001g0189 a0001c0001t0001g0205 a0001c0001t0001g0207 others(88): Show a0001c0001t0001g0189 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0285 a0001c0001t0002g0004 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0274 a0001c0001t0002g0286 a0001c0001t0003g0153 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0003g0213 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0180 a0001c0001t0004g0201 a0001c0001t0004g0208 a0001c0001t0004g0228 a0001c0001t0004g0232 a0001c0001t0004g0238 a0001c0001t0004g0262 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0015g0263 a0001c0001t0017g0212 a0002c0003t0004g0198 a0002c0003t0004g0216 a0002c0003t0004g0224 a0002c0003t0005g0214 a0002c0003t0005g0215 a0002c0003t0005g0231	93	340	0.2735	-11	c.-10 others(28): Show c.-10-5969_-10-5959delTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131547455	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03195.hp1 HG02895.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0016 a0001c0001t0001 a0001c0003t0016	a0001c0001t0001g0015 a0001c0003t0016g0092 a0001c0001t0001g0015 a0001c0003t0016g0092	2	94	0.0213	-11	c.130 others(30): Show c.1302+2481_1302+2491delTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	14/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131547491	AAAAAAAA others(4): Show AAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	94	0.0106	-11	c.130 others(30): Show c.1302+2445_1302+2455delGTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	14/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131628867	TTTTTTGA others(4): Show TTTTTTGAAGGG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	94	0.0106	-11	c.681 others(30): Show c.681+40797_681+40807delCCCTTCAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131700054	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp2 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0011 a0001c0001t0001g0023	2	94	0.0213	-11	c.361 others(24): Show c.361-85_361-75delAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131814572	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02257.hp2 HG02451.hp2 others(6): Show HG01069.hp2 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG03098.hp2 HG03516.hp1 NA18906.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0006t0004	a0001c0001t0002g0074 a0001c0001t0005g0077 a0001c0001t0006g0003 others(6): Show a0001c0001t0002g0074 a0001c0001t0005g0077 a0001c0001t0006g0003 a0001c0002t0001g0006 a0001c0003t0001g0014 a0001c0003t0002g0071 a0001c0004t0001g0007 a0001c0004t0002g0081 a0001c0006t0004g0008	9	94	0.0957	-11	c.180 others(30): Show c.180+90681_180+90691delAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131958609	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01069.hp2 others(27): Show HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01169.hp2 HG01884.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02922.hp2 HG03239.hp1 HG03239.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18946.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18990.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0032 others(27): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0001t0008g0066 a0001c0001t0009g0067 a0001c0002t0001g0030 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0002g0082 a0001c0002t0009g0068 a0001c0003t0001g0005 a0001c0005t0001g0012	30	94	0.3192	-11	c.-1- others(28): Show c.-1-53176_-1-53166delAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131958970	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	94	0.0106	-11	c.-1- others(28): Show c.-1-53537_-1-53527delAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131973521	GATACTAT others(4): Show GATACTATTATC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	94	0.0106	-11	c.-2+ others(28): Show c.-2+61035_-2+61045delGATAATAGTAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132032871	GGGCATCA others(4): Show GGGCATCAAATT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	94	0.0106	-11	c.-2+ others(26): Show c.-2+1685_-2+1695delAATTTGATGCC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36834254	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0374 a0001c0002t0005g0374	1	380	0.0026	-11	c.95+ others(26): Show c.95+5018_95+5028delTTTTTTTTTTT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	1/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89587705	TCACCCCC others(4): Show TCACCCCCATAG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0171 a0002c0003t0003g0171	1	348	0.0029	-11	c.927 others(26): Show c.927+611_927+621delATAGCACCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587748	CCGTGTCA others(4): Show CCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01516.hp1 HG01516.hp2 others(4): Show HG00597.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02615.hp1 HG02683.hp2 NA18994.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0002t0005 a0003c0006t0003 a0001c0001t0001 a0001c0002t0005 a0003c0006t0003	a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 others(4): Show a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0242 a0001c0002t0005g0292 a0003c0006t0003g0144 a0003c0006t0003g0146	7	348	0.0201	-11	c.927 others(26): Show c.927+657_927+667delGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587876	CCGTGTCA others(4): Show CCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18959.hp1 NA18962.hp2 others(1): Show NA18942.hp1 NA18959.hp1 NA18962.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0001 a0002c0003t0003 a0002c0004t0002 a0001c0001t0001 a0002c0003t0003 a0002c0004t0002	a0001c0001t0001g0040 a0001c0001t0001g0154 a0002c0003t0003g0207 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0154 a0002c0003t0003g0207 a0002c0004t0002g0315	4	348	0.0115	-11	c.927 others(26): Show c.927+785_928-778delGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587909	GCCCCCGT others(4): Show GCCCCCGTGTCA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0126 a0002c0003t0003g0126	1	348	0.0029	-11	c.928 others(26): Show c.928-762_928-752delCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587913	CCGTGTCA others(4): Show CCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02486.hp1 HG03139.hp2 others(6): Show HG00597.hp2 HG02486.hp1 HG03139.hp2 HG03688.hp1 NA18944.hp1 NA18959.hp1 NA18990.hp2 NA18995.hp2 NA19082.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 a0001c0008t0002 a0002c0003t0003 a0003c0006t0003	a0001c0001t0001g0057 a0001c0001t0001g0120 a0001c0002t0003g0076 others(6): Show a0001c0001t0001g0057 a0001c0001t0001g0120 a0001c0002t0003g0076 a0001c0002t0003g0211 a0001c0002t0003g0229 a0001c0002t0005g0074 a0001c0008t0002g0010 a0002c0003t0003g0207 a0003c0006t0003g0146	9	348	0.0259	-11	c.928 others(26): Show c.928-751_928-741delGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588031	CCGTGTCA others(4): Show CCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02155.hp1 NA18994.hp1 HG02132.hp1 HG02155.hp1 NA18994.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0310 a0001c0005t0002g0317 a0001c0005t0002g0323 a0001c0005t0002g0310 a0001c0005t0002g0317 a0001c0005t0002g0323	3	348	0.0086	-11	c.928 others(26): Show c.928-633_928-623delGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588121	CCGTGTCA others(4): Show CCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01123.hp2 HG02071.hp2 others(7): Show HG00544.hp1 HG01123.hp2 HG02071.hp2 HG02132.hp1 HG02155.hp2 HG02683.hp2 NA18612.hp2 NA18747.hp2 NA19054.hp2 NA19088.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0010 a0009c0019	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0005t0002 a0002c0003t0007 a0002c0010t0008 a0009c0019t0002	a0001c0001t0001g0098 a0001c0001t0001g0239 a0001c0001t0001g0242 others(7): Show a0001c0001t0001g0098 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0002t0002g0202 a0001c0002t0002g0254 a0001c0002t0004g0150 a0001c0005t0002g0317 a0002c0003t0007g0298 a0002c0010t0008g0127 a0009c0019t0002g0253	10	348	0.0287	-11	c.928 others(26): Show c.928-543_928-533delGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588158	CCGTGTCA others(4): Show CCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG01243.hp1 others(11): Show HG00597.hp1 HG00733.hp2 HG01243.hp1 HG02071.hp1 HG02273.hp1 HG02717.hp2 HG02735.hp1 HG03139.hp1 HG03942.hp1 HG04228.hp2 NA18959.hp1 NA19005.hp1 NA19080.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 a0001c0005t0002 a0002c0003t0002 a0002c0003t0003	a0001c0001t0001g0050 a0001c0001t0001g0095 a0001c0001t0001g0205 others(11): Show a0001c0001t0001g0050 a0001c0001t0001g0095 a0001c0001t0001g0205 a0001c0002t0001g0331 a0001c0002t0004g0110 a0001c0002t0004g0266 a0001c0002t0004g0271 a0001c0002t0010g0219 a0001c0005t0002g0107 a0002c0003t0002g0153 a0002c0003t0003g0111 a0002c0003t0003g0116 a0002c0003t0003g0152 a0002c0003t0003g0207	14	348	0.0402	-11	c.928 others(26): Show c.928-506_928-496delGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588195	CCGTGTCA others(4): Show CCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(76): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01928.hp1 HG01993.hp1 HG02071.hp2 HG02080.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03492.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp2 NA18950.hp1 NA18964.hp2 NA18971.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19057.hp2 NA19065.hp2 NA19074.hp1 NA19082.hp2 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0009	a0001c0001 a0001c0002 a0001c0007 others(12): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0023 a0001c0025 a0001c0027 a0001c0028 a0002c0003 a0002c0010 a0003c0006 a0004c0011 a0004c0020 a0007c0022 a0009c0019	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(16): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0007t0006 a0001c0008t0002 a0001c0023t0001 a0001c0025t0001 a0001c0027t0005 a0001c0028t0001 a0002c0003t0002 a0002c0010t0001 a0003c0006t0003 a0004c0011t0001 a0004c0020t0001 a0007c0022t0004 a0009c0019t0002	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0058 others(75): Show a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0140 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0294 a0001c0001t0001g0341 a0001c0002t0002g0004 a0001c0002t0002g0032 a0001c0002t0002g0104 a0001c0002t0002g0196 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0299 a0001c0002t0002g0321 a0001c0002t0003g0180 a0001c0002t0003g0211 a0001c0002t0003g0229 a0001c0002t0003g0236 a0001c0002t0003g0260 a0001c0002t0003g0272 a0001c0002t0004g0150 a0001c0002t0004g0326 a0001c0002t0004g0327 a0001c0002t0005g0074 a0001c0002t0005g0163 a0001c0002t0005g0289 a0001c0002t0005g0295 a0001c0002t0005g0320 a0001c0002t0010g0219 a0001c0007t0006g0071 a0001c0007t0006g0158 a0001c0007t0006g0159 a0001c0007t0006g0160 a0001c0007t0006g0161 a0001c0007t0006g0259 a0001c0008t0002g0015 a0001c0023t0001g0195 a0001c0025t0001g0276 a0001c0027t0005g0156 a0001c0028t0001g0164 a0002c0003t0002g0312 a0002c0010t0001g0245 a0003c0006t0003g0146 a0003c0006t0003g0230 a0004c0011t0001g0092 a0004c0020t0001g0340 a0007c0022t0004g0288 a0009c0019t0002g0253	79	348	0.2270	-11	c.928 others(26): Show c.928-469_928-459delGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597789	CCGTCCAC others(4): Show CCGTCCACCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0299 a0001c0002t0002g0299	1	348	0.0029	-11	c.11 others(22): Show c.1169_*1179delCGTCCACCCAT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		544		chr16	TogoVar
CPNE8_chr12_38647203_38910591	38833351	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18948.hp2 NA19066.hp2 NA18945.hp2 NA18948.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0028 a0001c0002t0002g0033 a0001c0002t0008g0032 a0001c0002t0002g0028 a0001c0002t0002g0033 a0001c0002t0008g0032	3	342	0.0088	-11	c.331 others(28): Show c.331-3907_331-3897delTTTTTTTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	5/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38842569	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	342	0.0029	-11	c.291 others(28): Show c.291-2625_291-2615delAAAAAAAAAAA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	4/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902357	AAAGAAAG others(4): Show AAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1 HG00423.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0243 a0001c0002t0002g0240 a0001c0002t0002g0244 a0001c0001t0004g0243 a0001c0002t0002g0240 a0001c0002t0002g0244	3	342	0.0088	-11	c.98+ others(26): Show c.98+3069_98+3079delCTTTCTTTCTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902382	AAAGAAAG others(4): Show AAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02055.hp1 HG01070.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0234 a0001c0001t0004g0326 a0001c0001t0001g0234 a0001c0001t0004g0326	2	342	0.0059	-11	c.98+ others(26): Show c.98+3044_98+3054delCTTTCTTTCTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE9_chr3_9698833_9734908	9714639	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(189): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(158): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0333 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0376 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0003g0055 a0001c0002t0001g0012 a0003c0005t0001g0020	192	440	0.4364	-11	c.651 others(26): Show c.651-256_651-246delAAAAAAAAAAA	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE9_chr3_9698833_9734908	9714658	AAAAAAAA others(4): Show AAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19011.hp2 NA19067.hp2 HG00673.hp1 NA19011.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0128 a0001c0001t0001g0213 a0001c0001t0001g0214	3	440	0.0068	-11	c.651 others(26): Show c.651-255_651-245delAAAAAAAAAAC	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	10/20			chr3	TogoVar
CPO_chr2_206934518_206974474	206958728	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19030.hp2 NA18977.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0206 a0002c0002t0001g0283 a0001c0001t0001g0206 a0002c0002t0001g0283	2	422	0.0047	-11	c.372 others(26): Show c.372+343_372+353delTTTTTTTTTTT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPQ_chr8_96640242_97148501	96801782	ACCTCCTC others(4): Show ACCTCCTCTCTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0090 a0009c0012t0001g0090	1	126	0.0079	-11	c.433 others(30): Show c.433+16467_433+16477delCCTCTCTGCCT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97023020	ATATATAT others(4): Show ATATATATACAG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	126	0.0079	-11	c.962 others(28): Show c.962-6362_962-6352delAGTATATATAC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97038825	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19030.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0107 a0001c0004t0001g0114 a0001c0004t0001g0107 a0001c0004t0001g0114	2	126	0.0159	-11	c.105 others(30): Show c.1053+9345_1053+9355delAAAAAAAAAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPS1_chr2_210551599_210684107	210635921	AGGGAAAT others(4): Show AGGGAAATAGCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG03041.hp1 others(2): Show HG00140.hp1 HG00639.hp2 HG03041.hp1 HG03654.hp1 NA21309.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0007 a0009c0030 others(1): Show a0001c0001 a0004c0007 a0009c0030 a0009c0032	a0001c0001t0007 a0001c0001t0016 a0004c0007t0004 others(2): Show a0001c0001t0007 a0001c0001t0016 a0004c0007t0004 a0009c0030t0007 a0009c0032t0026	a0001c0001t0007g0057 a0001c0001t0016g0327 a0004c0007t0004g0323 others(2): Show a0001c0001t0007g0057 a0001c0001t0016g0327 a0004c0007t0004g0323 a0009c0030t0007g0074 a0009c0032t0026g0012	5	340	0.0147	-11	c.268 others(30): Show c.2688-1780_2688-1770delGGGAAATAGCC	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	21/37			chr2	TogoVar
CPS1_chr2_210551599_210684107	210673778	ACTCATAC others(4): Show ACTCATACTAAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0283 a0001c0001t0009g0283	1	340	0.0029	-11	c.410 others(30): Show c.4102-1123_4102-1113delCTCATACTAAT	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	34/37			chr2	TogoVar
CPSF4L_chr17_73243449_73266880	73264291	GCAGAGGT others(4): Show GCAGAGGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-11	c.-24 others(22): Show c.-2484_-2474delACACACCTCTG	CPSF4L	ENSG00000187959.9	transcript	ENST00000344935.8	protein_coding		2412		chr17	TogoVar
CPSF4_chr7_99433943_99462373	99440666	ATATATAT others(4): Show ATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	364	0.0028	-11	c.103 others(28): Show c.103+1483_103+1493delATATATATTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF6_chr12_69234569_69279358	69249151	TCGGGGGG others(4): Show TCGGGGGGGGGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00544.hp2 others(65): Show HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00642.hp2 HG01192.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02523.hp2 HG02683.hp1 HG02735.hp2 HG03239.hp1 HG03491.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18970.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19004.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp1 NA19066.hp2 NA19074.hp1 NA19078.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19089.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(13): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0034 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0067 a0001c0001t0074 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0090 a0001c0006t0003	a0001c0001t0003g0001 a0001c0001t0003g0020 a0001c0001t0003g0024 others(39): Show a0001c0001t0003g0001 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0047 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0169 a0001c0001t0003g0223 a0001c0001t0004g0073 a0001c0001t0008g0001 a0001c0001t0008g0024 a0001c0001t0008g0072 a0001c0001t0008g0075 a0001c0001t0010g0001 a0001c0001t0010g0023 a0001c0001t0010g0065 a0001c0001t0015g0001 a0001c0001t0015g0026 a0001c0001t0015g0070 a0001c0001t0015g0076 a0001c0001t0034g0001 a0001c0001t0034g0094 a0001c0001t0040g0077 a0001c0001t0040g0082 a0001c0001t0042g0001 a0001c0001t0042g0079 a0001c0001t0043g0022 a0001c0001t0067g0001 a0001c0001t0074g0001 a0001c0001t0083g0025 a0001c0001t0085g0080 a0001c0001t0086g0068 a0001c0001t0090g0001 a0001c0006t0003g0001	68	392	0.1735	-11	c.61- others(26): Show c.61-1977_61-1967delCGGGGGGGGGG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding	1/9			chr12	TogoVar
CPSF7_chr11_61397729_61434975	61429505	AGCGCCGC others(4): Show AGCGCCGCGTCT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	190	0.0053	-11	c.-55 others(26): Show c.-55-226_-55-216delAGACGCGGCGC	CPSF7	ENSG00000149532.16	transcript	ENST00000439958.8	protein_coding	1/9			chr11	TogoVar
CPT1A_chr11_68749883_68846916	68816916	TGTGTGTG others(4): Show TGTGTGTGTGGG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp1 HG03579.hp2 HG02647.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0008 a0001c0001t0003g0198 a0001c0001t0003g0221 a0001c0001t0002g0008 a0001c0001t0003g0198 a0001c0001t0003g0221	3	236	0.0127	-11	c.-13 others(28): Show c.-13-1440_-13-1430delCCCACACACAC	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CPT1C_chr19_49686116_49718731	49694080	AAAATAAA others(4): Show AAAATAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00642.hp2 others(12): Show HG00280.hp2 HG00544.hp1 HG00642.hp2 HG01169.hp2 HG02683.hp2 HG02698.hp2 HG03654.hp2 HG03688.hp1 HG04115.hp1 NA18906.hp1 NA19074.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 others(12): Show a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033	15	350	0.0429	-11	c.141 others(28): Show c.141+1695_141+1705delAAATAAATAAA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49699457	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	350	0.0029	-11	c.282 others(28): Show c.282-1203_282-1193delAAAAAAAAAAA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPTP_chr1_1319802_1333896	1320087	CACCCAGA others(4): Show CACCCAGACCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0002 a0007c0009t0001g0002	1	378	0.0027	-11	c.-50 others(22): Show c.-5090_-5080delACCCAGACCAG	CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding		4714		chr1	TogoVar
CPTP_chr1_1319802_1333896	1324762	CGGGCGAG others(4): Show CGGGCGAGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	378	0.0027	-11	c.-41 others(20): Show c.-415_-405delGGGCGAGGGCG	CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding		39		chr1	TogoVar
CPVL_chr7_28990235_29151537	29123619	AAAAAAAA others(4): Show AAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18941.hp1 HG03195.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0153 a0001c0001t0002g0184 a0001c0001t0001g0153 a0001c0001t0002g0184	2	282	0.0071	-11	c.-10 others(28): Show c.-10-2559_-10-2549delATTTTTTTTTT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/12			chr7	TogoVar
CPVL_chr7_28990235_29151537	29123621	AAAAAAAA others(4): Show AAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02572.hp2 HG02717.hp1 others(3): Show HG01255.hp2 HG02572.hp2 HG02717.hp1 NA19030.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0239 a0001c0001t0002g0240 a0001c0001t0007g0268 others(3): Show a0001c0001t0001g0239 a0001c0001t0002g0240 a0001c0001t0007g0268 a0002c0002t0002g0046 a0002c0002t0002g0047 a0003c0003t0001g0050	6	282	0.0213	-11	c.-10 others(28): Show c.-10-2561_-10-2551delATATTTTTTTT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/12			chr7	TogoVar
CPXM2_chr10_123740639_123896807	123854363	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00735.hp1 others(35): Show HG00280.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp1 HG01891.hp1 HG01981.hp2 HG02055.hp1 HG02135.hp2 HG02300.hp1 HG02572.hp1 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG03041.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 NA18967.hp2 NA18978.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19090.hp2 NA19240.hp2	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0010 a0012	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0002c0036 a0002c0039 a0005c0026 a0006c0024 a0007c0037 a0008c0038 a0009c0035 a0010c0015 a0012c0029	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0010t0013 a0002c0036t0007 a0002c0039t0007 a0005c0026t0011 a0006c0024t0001 a0007c0037t0004 a0008c0038t0016 a0009c0035t0015 a0010c0015t0014 a0012c0029t0001	a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0114 others(35): Show a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0167 a0001c0001t0001g0190 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0005g0259 a0001c0001t0009g0172 a0001c0002t0001g0234 a0001c0002t0002g0261 a0001c0002t0002g0276 a0001c0002t0008g0206 a0001c0002t0008g0208 a0001c0002t0012g0201 a0001c0003t0001g0143 a0001c0003t0001g0173 a0001c0003t0001g0203 a0001c0003t0001g0220 a0001c0003t0002g0050 a0001c0003t0002g0275 a0001c0004t0001g0083 a0001c0004t0001g0113 a0001c0005t0001g0070 a0001c0010t0013g0254 a0002c0036t0007g0018 a0002c0039t0007g0012 a0005c0026t0011g0001 a0006c0024t0001g0074 a0007c0037t0004g0009 a0008c0038t0016g0016 a0009c0035t0015g0019 a0010c0015t0014g0023 a0012c0029t0001g0278	38	288	0.1319	-11	c.513 others(28): Show c.513+8240_513+8250delTATATATATAT	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	3/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123895112	CTTTTTTT others(4): Show CTTTTTTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0158 a0001c0002t0006g0158	1	288	0.0035	-11	c.-34 others(22): Show c.-3464_-3454delAAGAAAAAAAA	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding		3306		chr10	TogoVar
CPXM2_chr10_123740639_123896807	123895121	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	288	0.0035	-11	c.-34 others(22): Show c.-3473_-3463delAAAAAAAAAAA	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding		3315		chr10	TogoVar
CR1L_chr1_207640133_207728703	207642010	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02630.hp2 others(3): Show HG02109.hp2 HG02622.hp2 HG02630.hp2 HG02818.hp1 HG02897.hp2 HG03579.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0278 a0007c0007t0001g0275 a0007c0007t0001g0276 others(3): Show a0001c0001t0001g0278 a0007c0007t0001g0275 a0007c0007t0001g0276 a0007c0007t0001g0277 a0007c0007t0001g0279 a0007c0007t0001g0322	6	346	0.0173	-11	c.-32 others(22): Show c.-3223_-3213delTTTTTTTTTTT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding		3122		chr1	TogoVar
CR1_chr1_207491157_207646765	207524983	TAGGGACC others(4): Show TAGGGACCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0032 a0032	a0032c0047 a0032c0047	a0032c0047t0002 a0032c0047t0002	a0032c0047t0002g0349 a0032c0047t0002g0349	1	360	0.0028	-11	c.886 others(26): Show c.886+978_886+988delGACCCCTCAGG	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	5/46		INFO_REALIGN_3_PRIME	chr1	TogoVar

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