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
CPAMD8_chr19_16887951_17031810	17031421	CAGACCCT others(7): Show CAGACCCTGTCTCAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0073 a0073	a0073c0082 a0073c0082	a0073c0082t0001 a0073c0082t0001	a0073c0082t0001g0069 a0073c0082t0001g0069	1	278	0.0036	-14	c.-47 others(25): Show c.-4793_-4780delTTGAGACAGGGTCT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding		4612		chr19	TogoVar
CPAMD8_chr19_16887951_17031810	17031553	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0016 a0016	a0016c0050 a0016c0050	a0016c0050t0001 a0016c0050t0001	a0016c0050t0001g0095 a0016c0050t0001g0095	1	278	0.0036	-14	c.-49 others(25): Show c.-4925_-4912delACACACACACACAC	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding		4744		chr19	TogoVar
CPB1_chr3_148822811_148865187	148846797	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	456	0.0022	-14	c.981 others(31): Show c.981+1203_981+1216delATATATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB2_chr13_46048186_46110033	46108157	TTATATAT others(7): Show TTATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(133): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01074.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18972.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0003c0005 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0003 a0003c0005t0003 a0004c0006t0001 a0005c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(110): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0002g0239 a0001c0001t0002g0257 a0001c0004t0001g0004 a0001c0004t0001g0009 a0001c0004t0001g0029 a0001c0004t0001g0165 a0001c0004t0001g0168 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0176 a0001c0004t0001g0182 a0001c0004t0001g0185 a0001c0004t0001g0193 a0001c0004t0001g0199 a0001c0004t0001g0200 a0001c0004t0001g0212 a0001c0004t0001g0214 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0225 a0001c0004t0001g0226 a0001c0004t0001g0232 a0001c0004t0001g0233 a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0238 a0001c0004t0001g0241 a0001c0004t0001g0242 a0001c0004t0001g0244 a0001c0004t0001g0245 a0001c0004t0001g0250 a0001c0004t0001g0251 a0001c0004t0001g0252 a0001c0004t0001g0253 a0001c0004t0002g0030 a0001c0004t0002g0191 a0001c0004t0002g0211 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0187 a0002c0002t0002g0190 a0002c0002t0002g0196 a0002c0002t0002g0202 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0256 a0002c0002t0002g0259 a0002c0002t0002g0261 a0003c0003t0003g0179 a0003c0003t0003g0181 a0003c0005t0003g0169 a0003c0005t0003g0240 a0004c0006t0001g0194 a0004c0006t0001g0195 a0004c0006t0001g0213 a0005c0008t0001g0204	136	330	0.4121	-14	c.-31 others(25): Show c.-3162_-3149delTATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPD_chr17_30373927_30474989	30459206	TTTATTTA others(7): Show TTTATTTATTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	296	0.0034	-14	c.349 others(33): Show c.3499-1957_3499-1944delATTTATTATTTATT	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
CPEB1_chr15_82538201_82652363	82574722	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG02723.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0234 a0001c0001t0009g0235 a0001c0001t0009g0234 a0001c0001t0009g0235	2	354	0.0057	-14	c.272 others(31): Show c.272-3204_272-3191delTTTTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB1_chr15_82538201_82652363	82614845	ATAAGTGT others(7): Show ATAAGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01361.hp1 others(2): Show HG00639.hp2 HG00735.hp1 HG01361.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0014g0213 others(2): Show a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0014g0213 a0001c0001t0014g0214 a0001c0001t0014g0215	5	354	0.0141	-14	c.271 others(33): Show c.271+12334_271+12347delCACACACACACTTA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB2_chr4_14997481_15075151	15027384	CGGATCTG others(7): Show CGGATCTGGTACTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02572.hp1 others(3): Show HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG03130.hp2 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0006 a0002c0002t0002g0067 a0002c0002t0002g0068	6	288	0.0208	-14	c.212 others(33): Show c.2126-5770_2126-5757delGGTACTTTGGATCT	CPEB2	ENSG00000137449.17	transcript	ENST00000538197.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPEB3_chr10_92041692_92296078	92098160	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG01192.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0006 a0001c0001t0013g0268 a0001c0001t0002g0006 a0001c0001t0013g0268	2	278	0.0072	-14	c.157 others(33): Show c.1573-6230_1573-6217delTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	7/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92190665	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01175.hp1 others(29): Show HG00639.hp1 HG01081.hp1 HG01175.hp1 HG01433.hp2 HG01928.hp2 HG01981.hp1 HG02055.hp2 HG02257.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03942.hp2 HG04228.hp2 NA18906.hp1 NA18989.hp1 NA19009.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0025 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0002t0002 a0001c0002t0004 a0001c0002t0014 a0001c0002t0043 a0001c0003t0001 a0001c0004t0011 a0001c0004t0033	a0001c0001t0002g0237 a0001c0001t0002g0262 a0001c0001t0005g0246 others(29): Show a0001c0001t0002g0237 a0001c0001t0002g0262 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0271 a0001c0001t0011g0265 a0001c0001t0011g0272 a0001c0001t0015g0267 a0001c0001t0025g0253 a0001c0001t0036g0275 a0001c0001t0037g0273 a0001c0001t0038g0263 a0001c0002t0002g0056 a0001c0002t0002g0067 a0001c0002t0004g0098 a0001c0002t0014g0060 a0001c0002t0043g0074 a0001c0003t0001g0138 a0001c0003t0001g0144 a0001c0004t0011g0252 a0001c0004t0011g0264 a0001c0004t0033g0269	32	278	0.1151	-14	c.116 others(33): Show c.1165+1798_1165+1811delTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	3/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92258625	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp1 HG02735.hp1 others(1): Show HG00735.hp1 HG01433.hp1 HG02735.hp1 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0031 a0001c0003t0039 a0001c0003t0001 a0001c0003t0031 a0001c0003t0039	a0001c0003t0001g0196 a0001c0003t0001g0206 a0001c0003t0031g0139 others(1): Show a0001c0003t0001g0196 a0001c0003t0001g0206 a0001c0003t0031g0139 a0001c0003t0039g0194	4	278	0.0144	-14	c.-11 others(33): Show c.-11-18278_-11-18265delATATATATATATAT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	120997928	AAAATAAA others(7): Show AAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02809.hp2 others(8): Show HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp2 NA19043.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0004 others(2): Show a0001c0001 a0001c0003 a0002c0004 a0003c0005 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0003t0008 a0002c0004t0002 a0003c0005t0001 a0004c0009t0001	a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0002g0042 others(8): Show a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0002g0042 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0008g0045 a0002c0004t0002g0044 a0003c0005t0001g0046 a0004c0009t0001g0050	11	140	0.0786	-14	c.249 others(31): Show c.249+8062_249+8075delTAAAATAAAATAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121098743	TAAAAATA others(7): Show TAAAAATATATAAAA	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18998.hp2 NA19075.hp1 NA18941.hp1 NA18998.hp2 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0069	3	140	0.0214	-14	c.749 others(29): Show c.749+914_749+927delAAAATATATAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121189760	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	140	0.0071	-14	c.205 others(35): Show c.2056-46929_2056-46916delTATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121241347	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	140	0.0071	-14	c.217 others(33): Show c.2174-2830_2174-2817delAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165501217	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	332	0.0030	-14	c.36 others(25): Show c.3608_*3621delAAAAAAAAAAAAAA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding		2671		chr4	TogoVar
CPHXL2_chr16_75655227_75682009	75655979	TCACACAC others(7): Show TCACACACACGTGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02074.hp1 HG02523.hp2 others(4): Show HG01975.hp2 HG02074.hp1 HG02523.hp2 HG02602.hp1 NA18941.hp2 NA19004.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0083 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0127	7	392	0.0179	-14	c.42 others(25): Show c.4261_*4274delTGCACGTGTGTGTG	CPHXL2	ENSG00000284484.1	transcript	ENST00000640173.1	protein_coding		4247		chr16	TogoVar
CPHXL2_chr16_75655227_75682009	75678267	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	392	0.0026	-14	c.-12 others(25): Show c.-1282_-1269delTTTTTTTTTTTTTT	CPHXL2	ENSG00000284484.1	transcript	ENST00000640173.1	protein_coding		1259		chr16	TogoVar
CPHXL_chr16_75709131_75731490	75725753	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	388	0.0026	-14	c.25+ others(27): Show c.25+651_25+664delAAAAAAAAAAAAAA	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2			chr16	TogoVar
CPLANE1_chr5_37101235_37254376	37245297	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG00735.hp2 others(15): Show HG00408.hp2 HG00733.hp1 HG00735.hp2 HG01099.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02559.hp2 HG02630.hp2 HG02965.hp1 HG02976.hp1 HG06807.hp1 HG06807.hp2 NA18952.hp2 NA19056.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0008 a0030	a0001c0001 a0001c0030 a0002c0002 others(5): Show a0001c0001 a0001c0030 a0002c0002 a0003c0004 a0004c0003 a0007c0006 a0008c0007 a0030c0019	a0001c0001t0001 a0001c0030t0001 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0030t0001 a0002c0002t0001 a0003c0004t0001 a0004c0003t0001 a0007c0006t0001 a0008c0007t0003 a0030c0019t0001	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 others(15): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0030t0001g0071 a0002c0002t0001g0014 a0003c0004t0001g0244 a0003c0004t0001g0245 a0004c0003t0001g0246 a0007c0006t0001g0261 a0008c0007t0003g0044 a0008c0007t0003g0046 a0030c0019t0001g0243	18	268	0.0672	-14	c.337 others(29): Show c.337+168_337+181delTATATATATATATA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	4/52			chr5	TogoVar
CPLX4_chr18_59290402_59323649	59304923	CAGTGTGT others(7): Show CAGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	418	0.0024	-14	c.255 others(31): Show c.255+7748_255+7761delCACACACACACACT	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding	2/2			chr18	TogoVar
CPLX4_chr18_59290402_59323649	59304924	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG02135.hp2 others(5): Show HG00639.hp1 HG01109.hp2 HG02135.hp2 NA18960.hp1 NA18984.hp1 NA19004.hp2 NA19054.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0164 a0001c0001t0003g0225 a0001c0001t0008g0027 others(2): Show a0001c0001t0003g0164 a0001c0001t0003g0225 a0001c0001t0008g0027 a0001c0001t0008g0055 a0001c0001t0008g0286	8	418	0.0191	-14	c.255 others(31): Show c.255+7747_255+7760delACACACACACACAC	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding	2/2			chr18	TogoVar
CPLX4_chr18_59290402_59323649	59309829	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01255.hp1 others(7): Show HG00099.hp1 HG00741.hp1 HG01255.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG02280.hp2 HG02683.hp2 HG03491.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0015 a0001c0001t0013 a0001c0001t0015	a0001c0001t0013g0023 a0001c0001t0013g0054 a0001c0001t0013g0261 others(2): Show a0001c0001t0013g0023 a0001c0001t0013g0054 a0001c0001t0013g0261 a0001c0001t0015g0024 a0001c0001t0015g0262	10	418	0.0239	-14	c.255 others(31): Show c.255+2842_255+2855delCTTTTTTTTTTTTT	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding	2/2			chr18	TogoVar
CPLX4_chr18_59290402_59323649	59310947	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03540.hp2 HG02015.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0028 a0001c0001t0016 a0001c0001t0028	a0001c0001t0016g0298 a0001c0001t0028g0074 a0001c0001t0016g0298 a0001c0001t0028g0074	2	418	0.0048	-14	c.255 others(31): Show c.255+1724_255+1737delACACACACACACAC	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding	2/2			chr18	TogoVar
CPM_chr12_68846175_68938171	68923158	AGAGTGTG others(7): Show AGAGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02602.hp1 HG03490.hp2 others(2): Show HG00639.hp1 HG02602.hp1 HG03490.hp2 NA18951.hp1 NA18982.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0003 a0002c0008 others(1): Show a0001c0002 a0002c0003 a0002c0008 a0005c0014	a0001c0002t0001 a0002c0003t0029 a0002c0008t0001 others(1): Show a0001c0002t0001 a0002c0003t0029 a0002c0008t0001 a0005c0014t0001	a0001c0002t0001g0261 a0001c0002t0001g0262 a0002c0003t0029g0018 others(2): Show a0001c0002t0001g0261 a0001c0002t0001g0262 a0002c0003t0029g0018 a0002c0008t0001g0312 a0005c0014t0001g0337	5	340	0.0147	-14	c.160 others(31): Show c.160+9506_160+9519delACACACACACACTC	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	2/8			chr12	TogoVar
CPM_chr12_68846175_68938171	68923204	TGTGTGTG others(7): Show TGTGTGTGTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0287 a0001c0002t0048g0287	1	340	0.0029	-14	c.160 others(31): Show c.160+9460_160+9473delCAAAACACACACAC	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	2/8			chr12	TogoVar
CPN2_chr3_194334768_194356328	194349778	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0115 a0003c0004t0004g0115	1	440	0.0023	-14	c.-4+ others(29): Show c.-4+1450_-4+1463delAAAAAAAAAAAAAA	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1			chr3	TogoVar
CPN2_chr3_194334768_194356328	194352610	GAGTGGGT others(7): Show GAGTGGGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02886.hp1 others(6): Show HG02630.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG03130.hp2 HG03471.hp2 NA20129.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0005 a0005c0006 a0001c0001 a0003c0005 a0005c0006	a0001c0001t0001 a0003c0005t0006 a0005c0006t0001 others(1): Show a0001c0001t0001 a0003c0005t0006 a0005c0006t0001 a0005c0006t0003	a0001c0001t0001g0046 a0001c0001t0001g0128 a0003c0005t0006g0127 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0128 a0003c0005t0006g0127 a0005c0006t0001g0028 a0005c0006t0001g0125 a0005c0006t0003g0124	9	440	0.0205	-14	c.-13 others(25): Show c.-1386_-1373delTACACACACCCACT	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding		1283		chr3	TogoVar
CPNE1_chr20_35621044_35669900	35658802	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	272	0.0037	-14	c.-1+ others(29): Show c.-1+5944_-1+5957delGTGTGTGTGTGTGT	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	1/15			chr20	TogoVar
CPNE4_chr3_131528569_132040014	131547455	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	94	0.0106	-14	c.130 others(33): Show c.1302+2478_1302+2491delTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	14/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131547488	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	94	0.0106	-14	c.130 others(33): Show c.1302+2445_1302+2458delGTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	14/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131615915	ACACACAC others(7): Show ACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0025 a0001c0002t0012g0025	1	94	0.0106	-14	c.682 others(33): Show c.682-28347_682-28334delCGTGTGTGTGTGTG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131689563	GCCATCTT others(7): Show GCCATCTTATGCTTA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01069.hp1 others(79): Show HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01169.hp1 HG01169.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 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 HG03516.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18946.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18982.hp2 NA18990.hp2 NA19030.hp1 NA19030.hp2 NA19083.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0005t0001 a0001c0005t0004 a0001c0005t0015 a0001c0006t0004	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 others(79): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0001t0007g0002 a0001c0001t0008g0064 a0001c0001t0008g0066 a0001c0001t0009g0067 a0001c0001t0011g0093 a0001c0001t0013g0017 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0002g0082 a0001c0002t0003g0063 a0001c0002t0011g0094 a0001c0002t0012g0025 a0001c0002t0014g0065 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0044 a0001c0003t0002g0071 a0001c0003t0002g0089 a0001c0003t0003g0045 a0001c0003t0010g0087 a0001c0003t0016g0092 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0004t0002g0081 a0001c0004t0010g0086 a0001c0005t0001g0012 a0001c0005t0004g0024 a0001c0005t0004g0026 a0001c0005t0015g0091 a0001c0006t0004g0008	82	94	0.8723	-14	c.508 others(31): Show c.508-3619_508-3606delTAAGCATAAGATGG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	5/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131717882	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	94	0.0106	-14	c.360 others(31): Show c.360+5550_360+5563delAAGAAAGAAAGAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792671	ACATATAT others(7): Show ACATATATACACACG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG03209.hp2 HG02486.hp1 HG02615.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0012 a0001c0004t0001 a0001c0002t0001 a0001c0002t0012 a0001c0004t0001	a0001c0002t0001g0013 a0001c0002t0012g0025 a0001c0004t0001g0055 a0001c0002t0001g0013 a0001c0002t0012g0025 a0001c0004t0001g0055	3	94	0.0319	-14	c.181 others(33): Show c.181-69060_181-69047delCGTGTGTATATATG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131799919	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	94	0.0106	-14	c.181 others(33): Show c.181-76308_181-76295delCACACACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131814572	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02683.hp2 HG02258.hp1 HG02559.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0002t0003g0063 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0002t0003g0063	3	94	0.0319	-14	c.180 others(33): Show c.180+90678_180+90691delAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131861402	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18946.hp1 NA18982.hp2 NA18939.hp1 NA18946.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0002t0014 a0001c0001t0003 a0001c0001t0007 a0001c0002t0014	a0001c0001t0003g0037 a0001c0001t0007g0002 a0001c0002t0014g0065 a0001c0001t0003g0037 a0001c0001t0007g0002 a0001c0002t0014g0065	3	94	0.0319	-14	c.180 others(33): Show c.180+43848_180+43861delCACACACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131911543	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02602.hp1 HG02622.hp1 others(6): Show HG01169.hp2 HG02602.hp1 HG02622.hp1 HG02735.hp1 HG03239.hp1 HG03239.hp2 NA18946.hp1 NA18962.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0002g0076 others(6): Show a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0003g0037 a0001c0001t0008g0064 a0001c0002t0002g0082 a0001c0003t0001g0014	9	94	0.0957	-14	c.-1- others(29): Show c.-1-6113_-1-6100delCACACACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131942461	TGTGAGAG others(7): Show TGTGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02896.hp1 HG00738.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0002g0090 a0001c0001t0001g0032 a0001c0001t0002g0090	2	94	0.0213	-14	c.-1- others(31): Show c.-1-37031_-1-37018delTCTCTCTCTCTCAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131942463	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG03209.hp2 HG02258.hp1 HG02922.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0021 a0001c0001t0002g0088 a0001c0002t0001g0013 a0001c0001t0001g0021 a0001c0001t0002g0088 a0001c0002t0001g0013	3	94	0.0319	-14	c.-1- others(31): Show c.-1-37033_-1-37020delTCTCTCTCTCTCTC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132005336	TATATATA others(7): Show TATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0066 a0001c0001t0008g0066	1	94	0.0106	-14	c.-2+ others(31): Show c.-2+29217_-2+29230delGTGTGTGTATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132005340	TATACACA others(7): Show TATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0045 a0001c0003t0003g0045	1	94	0.0106	-14	c.-2+ others(31): Show c.-2+29213_-2+29226delGTGTGTGTGTGTAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132005342	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03239.hp2 NA19030.hp1 others(1): Show HG02622.hp2 HG03239.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0002g0075 a0001c0001t0002g0080 others(1): Show a0001c0001t0001g0058 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0083	4	94	0.0426	-14	c.-2+ others(31): Show c.-2+29211_-2+29224delGTGTGTGTGTGTGT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36762274	ACACACAC others(7): Show ACACACACGCACGCG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG02622.hp2 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0197 a0001c0002t0007g0199 a0001c0002t0007g0197 a0001c0002t0007g0199	2	380	0.0053	-14	c.855 others(29): Show c.855+629_855+642delCGCGTGCGTGTGTG	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	12/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36782816	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0071 a0001c0002t0005g0071	1	380	0.0026	-14	c.529 others(31): Show c.529-3873_529-3860delGTGTGTGTGTGTGT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	8/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89594642	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02723.hp2 others(13): Show HG02280.hp1 HG02559.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0007 a0001c0023 others(1): Show a0001c0002 a0001c0007 a0001c0023 a0004c0020	a0001c0002t0013 a0001c0007t0006 a0001c0023t0001 others(1): Show a0001c0002t0013 a0001c0007t0006 a0001c0023t0001 a0004c0020t0001	a0001c0002t0013g0194 a0001c0007t0006g0064 a0001c0007t0006g0071 others(13): Show a0001c0002t0013g0194 a0001c0007t0006g0064 a0001c0007t0006g0071 a0001c0007t0006g0157 a0001c0007t0006g0158 a0001c0007t0006g0159 a0001c0007t0006g0160 a0001c0007t0006g0161 a0001c0007t0006g0162 a0001c0007t0006g0165 a0001c0007t0006g0166 a0001c0007t0006g0259 a0001c0007t0006g0282 a0001c0007t0006g0293 a0001c0023t0001g0195 a0004c0020t0001g0340	16	348	0.0460	-14	c.130 others(31): Show c.1303-709_1303-696delTTTTTTTTTTTTTT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38867305	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp2 HG02257.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0303 a0001c0001t0003g0305 a0001c0001t0003g0303 a0001c0001t0003g0305	2	342	0.0059	-14	c.186 others(31): Show c.186+5685_186+5698delACACACACACACAC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	3/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38894658	ACTCTCTC others(7): Show ACTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp2 others(43): Show HG00099.hp1 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00642.hp1 HG01070.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02132.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02622.hp2 HG02723.hp2 HG03130.hp1 HG03139.hp2 HG03540.hp1 HG03704.hp2 HG03710.hp2 NA18747.hp2 NA18961.hp2 NA18965.hp1 NA18981.hp1 NA18981.hp2 NA18990.hp2 NA19054.hp2 NA19091.hp2 NA20129.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0002	a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0114 others(43): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0274 a0001c0001t0002g0251 a0001c0001t0002g0276 a0001c0001t0003g0301 a0001c0001t0003g0304 a0001c0001t0004g0243 a0001c0001t0004g0249 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0275 a0001c0001t0004g0278 a0001c0001t0004g0326 a0001c0001t0005g0225 a0001c0001t0006g0161 a0001c0001t0012g0229 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0256 a0001c0002t0002g0263 a0001c0002t0002g0325	46	342	0.1345	-14	c.98+ others(31): Show c.98+10765_98+10778delAGAGAGAGAGAGAG	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPPED1_chr16_12654799_12808887	12741839	TCAGGAGT others(7): Show TCAGGAGTTCGAAAC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	290	0.0035	-14	c.290 others(33): Show c.290-36804_290-36791delGTTTCGAACTCCTG	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar

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