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
COMTD1_chr10_75228641_75240957	75232740	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18964.hp1 NA18966.hp2 others(1): Show NA18945.hp2 NA18964.hp1 NA18966.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	410	0.0098	22	c.13 others(33): Show c.1332_*1333insAAAAAAAAAAAAAAAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		900		chr10	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG02056.hp2 others(14): Show HG00609.hp2 HG00738.hp2 HG02056.hp2 HG02074.hp1 HG02630.hp1 HG02647.hp2 HG04184.hp1 HG04204.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18965.hp1 NA18974.hp2 NA18980.hp2 NA18986.hp1 NA19030.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0001c0001t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0069 others(14): Show a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0003g0300 a0002c0003t0001g0265 a0002c0003t0001g0266	17	300	0.0567	22	c.213 others(41): Show c.2134-4220_2134-4199dupATATATATATATATATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(15): Show CCACACACACACACACAAACACA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0275 a0001c0001t0005g0275	1	300	0.0033	22	c.213 others(41): Show c.2134-8528_2134-8527insTGTGTTTGTGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(15): Show CCACACACACACACACACAAACA	intron_variant intron_variant	MODIFIER	HG04184.hp2 homoSapiens_chm13v2.hp1 HG04184.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0293 a0001c0001t0003g0286 a0001c0001t0003g0293	2	300	0.0067	22	c.213 others(41): Show c.2134-8528_2134-8527insTGTTTGTGTGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG01256.hp2 others(14): Show HG00597.hp1 HG00639.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01928.hp1 HG01934.hp1 HG02056.hp1 HG03834.hp1 HG04228.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18979.hp2 NA19003.hp1 NA19060.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 others(14): Show a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0253	17	300	0.0567	22	c.213 others(41): Show c.2134-8549_2134-8528dupTGTGTGTGTGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176028696	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03098.hp2 HG04184.hp2 others(9): Show HG02486.hp1 HG03098.hp2 HG04184.hp2 NA18950.hp2 NA18965.hp1 NA18981.hp1 NA18986.hp1 NA19002.hp1 NA19003.hp1 NA19058.hp1 NA19058.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0103 others(9): Show a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0130 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0003g0293 a0001c0001t0004g0273	12	300	0.0400	22	c.161 others(41): Show c.1613-1030_1613-1009dupATATATATATATATATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	14/19			chr1	TogoVar
COPG2_chr7_130501238_130673748	130513341	A A	ATATATAT others(15): Show ATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01891.hp1 HG01943.hp1 others(2): Show HG01346.hp1 HG01891.hp1 HG01943.hp1 HG01943.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0320 a0001c0001t0001g0323	5	326	0.0153	22	c.215 others(41): Show c.2150-4683_2150-4682insCACATATATATATATATATATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130525950	G G	GAAATGAG others(15): Show GAAATGAGTGACCTGGACAGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(107): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00558.hp1 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18945.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18978.hp1 NA18983.hp2 NA19003.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19079.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0004 a0004c0011 others(1): Show a0001c0001 a0003c0004 a0004c0011 a0005c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0003c0004t0001 a0004c0011t0001 a0005c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(107): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0004g0128 a0001c0001t0004g0131 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0267 a0001c0001t0004g0293 a0001c0001t0004g0308 a0001c0001t0004g0324 a0001c0001t0005g0247 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0258 a0001c0001t0009g0252 a0001c0001t0009g0256 a0001c0001t0010g0001 a0003c0004t0001g0297 a0004c0011t0001g0280 a0005c0010t0001g0147	110	326	0.3374	22	c.215 others(43): Show c.2150-17313_2150-17292dupAGGCTGTCCAGGTCACTCATTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPZ2_chr17_48021167_48042797	48026119	A A	AACACACA others(15): Show AACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG03579.hp1 NA18522.hp1 HG01993.hp2 HG03579.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0048 a0002c0002t0002g0019 a0002c0002t0002g0048	3	396	0.0076	22	c.30 others(31): Show c.308_*309insGTGTGTGTGTGTGTGTGTGTGT	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		47		chr17	TogoVar
COQ5_chr12_120498279_120534158	120526698	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	388	0.0026	22	c.202 others(39): Show c.202+2220_202+2241dupAAAAAAAAAAAAAAAAAAAAAA	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ7_chr16_19062614_19085095	19064343	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 NA18612.hp1 HG02083.hp2 NA18612.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0006 a0002c0003t0002g0007	2	372	0.0054	22	c.-33 others(33): Show c.-3322_-3321insTGTGTGTGTGTGTGTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3270		chr16	TogoVar
COQ7_chr16_19062614_19085095	19064345	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03516.hp2 HG03130.hp1 HG03516.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0010 a0002c0003t0014g0056 a0002c0003t0014g0010 a0002c0003t0014g0056	2	372	0.0054	22	c.-33 others(33): Show c.-3320_-3319insTGTGTGTGTGTGTGTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3268		chr16	TogoVar
COQ7_chr16_19062614_19085095	19064347	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03453.hp2 HG03130.hp2 HG03453.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0163 a0002c0006t0009g0164 a0002c0006t0009g0163 a0002c0006t0009g0164	2	372	0.0054	22	c.-33 others(33): Show c.-3318_-3317insTGTGTGTGTGTGTGTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3266		chr16	TogoVar
COQ8A_chr1_226935294_226992544	226960434	T T	TTGGTGGT others(15): Show TTGGTGGTGGCGGTGGTACTTGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0358 a0002c0004t0008g0358	1	412	0.0024	22	c.-9- others(35): Show c.-9-936_-9-935insGGCGGTGGTACTTGGTGGTGGT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG01891.hp2 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0004 a0002c0001t0001 a0001c0002t0004 a0002c0001t0001	a0001c0002t0004g0238 a0002c0001t0001g0100 a0001c0002t0004g0238 a0002c0001t0001g0100	2	410	0.0049	22	c.114 others(41): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19083.hp2 HG02602.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0306 a0001c0002t0001g0044 a0001c0002t0001g0306	2	410	0.0049	22	c.114 others(41): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG04204.hp2 HG04228.hp2 others(2): Show HG01943.hp2 HG04204.hp2 HG04228.hp2 NA18993.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0081 a0001c0002t0001g0339 a0001c0002t0001g0341 others(2): Show a0001c0002t0001g0081 a0001c0002t0001g0339 a0001c0002t0001g0341 a0001c0003t0001g0192 a0001c0003t0001g0195	5	410	0.0122	22	c.114 others(41): Show c.1144-1822_1144-1821insGTCTCTCTCTCTCTCTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19004.hp1 NA19011.hp1 NA18952.hp2 NA19004.hp1 NA19011.hp1	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0001 a0001c0014t0001 a0001c0005t0001 a0001c0014t0001	a0001c0005t0001g0080 a0001c0005t0001g0082 a0001c0014t0001g0193 a0001c0005t0001g0080 a0001c0005t0001g0082 a0001c0014t0001g0193	3	410	0.0073	22	c.114 others(41): Show c.1144-1822_1144-1821insGCCTCTCTCTCTCTCTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0111	1	264	0.0038	22	c.254 others(39): Show c.2540+474_2540+475insTATATATATATATAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19009.hp2 HG02132.hp2 NA19009.hp2	a0002 a0002	a0002c0003 a0002c0032 a0002c0003 a0002c0032	a0002c0003t0002 a0002c0032t0004 a0002c0003t0002 a0002c0032t0004	a0002c0003t0002g0216 a0002c0032t0004g0196 a0002c0003t0002g0216 a0002c0032t0004g0196	2	264	0.0076	22	c.254 others(39): Show c.2540+474_2540+475insTATATATATATAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	264	0.0038	22	c.254 others(39): Show c.2540+474_2540+475insTATATATATAGAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623117	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	264	0.0038	22	c.254 others(39): Show c.2540+453_2540+454insGTGTGTATATATATATATATAT	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47790140	G G	GGTTCCAC others(15): Show GGTTCCACAGCCAGCCCACCCGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02630.hp1 others(6): Show HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0017 a0002c0003 a0002c0026	a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 a0001c0017t0002 a0002c0003t0004 a0002c0026t0002	a0001c0001t0001g0157 a0001c0002t0001g0095 a0001c0002t0001g0160 others(6): Show a0001c0001t0001g0157 a0001c0002t0001g0095 a0001c0002t0001g0160 a0001c0006t0002g0158 a0001c0006t0002g0159 a0001c0006t0002g0161 a0001c0017t0002g0162 a0002c0003t0004g0206 a0002c0026t0002g0257	9	264	0.0341	22	c.209 others(39): Show c.209-3216_209-3215insTCGGGTGGGCTGGCTGTGGAAC	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	2/21			chr4	TogoVar
CORO2A_chr9_98115975_98197637	98119798	G G	GTTTTTGT others(15): Show GTTTTTGTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0223 a0003c0008t0002g0223	1	342	0.0029	22	c.49 others(33): Show c.4975_*4976insAAAAAAAAAAAAAAAACAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1176		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	342	0.0029	22	c.201 others(39): Show c.201+3109_201+3130dupTATATATATATATATATATATA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG01255.hp2 others(17): Show HG00609.hp2 HG01074.hp1 HG01255.hp2 HG01884.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02896.hp1 HG02897.hp1 HG03579.hp1 HG03704.hp1 HG06807.hp1 NA18522.hp1 NA18948.hp1 NA18951.hp2 NA19000.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0032	a0001c0001t0001g0040 a0001c0001t0001g0167 a0001c0001t0001g0229 others(17): Show a0001c0001t0001g0040 a0001c0001t0001g0167 a0001c0001t0001g0229 a0001c0001t0002g0082 a0001c0001t0003g0122 a0001c0001t0003g0134 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0004g0050 a0001c0001t0004g0136 a0001c0001t0004g0284 a0001c0001t0006g0309 a0001c0001t0006g0330 a0001c0001t0008g0142 a0001c0001t0008g0303 a0001c0001t0008g0304 a0001c0001t0009g0153 a0001c0001t0032g0143	20	342	0.0585	22	c.201 others(39): Show c.201+3130_201+3131insTATATATATATATATATATACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154352	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG02257.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0034 a0001c0001t0003 a0001c0001t0034	a0001c0001t0003g0124 a0001c0001t0034g0159 a0001c0001t0003g0124 a0001c0001t0034g0159	2	342	0.0059	22	c.201 others(39): Show c.201+3107_201+3108insGTGTATATATATATATATATAT	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154352	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00597.hp1 others(15): Show HG00408.hp2 HG00558.hp2 HG00597.hp1 HG01358.hp2 HG02165.hp2 HG02559.hp2 HG02735.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 NA18944.hp1 NA18956.hp1 NA18963.hp1 NA18964.hp1 NA18998.hp2 NA19054.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0029 a0001c0001t0040	a0001c0001t0001g0030 a0001c0001t0001g0087 a0001c0001t0001g0117 others(15): Show a0001c0001t0001g0030 a0001c0001t0001g0087 a0001c0001t0001g0117 a0001c0001t0001g0189 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0108 a0001c0001t0002g0187 a0001c0001t0002g0246 a0001c0001t0002g0267 a0001c0001t0002g0288 a0001c0001t0004g0068 a0001c0001t0004g0088 a0001c0001t0005g0123 a0001c0001t0006g0332 a0001c0001t0010g0225 a0001c0001t0029g0125 a0001c0001t0040g0015	18	342	0.0526	22	c.201 others(39): Show c.201+3107_201+3108insGTATATATATATATATATATAT	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
COX10_chr17_14064504_14213677	14175083	C C	CGGGGGGG others(15): Show CGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0233 a0002c0008t0002g0233	1	322	0.0031	22	c.695 others(41): Show c.695+15150_695+15151insGGGGGGGGGGGGGGGGGGGGGG	COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0073 a0001c0001t0011g0073	1	384	0.0026	22	c.434 others(37): Show c.434+164_434+165insATATATATATATATTTTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp1 HG03130.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0011 a0001c0001t0018	a0001c0001t0011g0070 a0001c0001t0018g0071 a0001c0001t0011g0070 a0001c0001t0018g0071	2	384	0.0052	22	c.434 others(37): Show c.434+164_434+165insATATATATATATATATTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0225 a0001c0002t0002g0225	1	384	0.0026	22	c.434 others(37): Show c.434+164_434+165insATATATATATATATATATATTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 NA19011.hp2 NA19012.hp1 others(1): Show HG02735.hp2 NA19011.hp2 NA19012.hp1 NA19076.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0003 a0001c0001t0003 a0003c0003t0003	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0055 others(1): Show a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0055 a0003c0003t0003g0012	4	406	0.0099	22	c.-30 others(33): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7B2_chr4_46729827_46914245	46754718	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	300	0.0033	22	c.-49 others(41): Show c.-49-19478_-49-19477insTATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754724	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	300	0.0033	22	c.-49 others(41): Show c.-49-19484_-49-19483insTATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02109.hp2 HG02970.hp2 others(6): Show HG01257.hp2 HG02109.hp2 HG02970.hp2 HG03516.hp1 HG03704.hp1 HG04199.hp1 NA18954.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0001g0134 others(6): Show a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0187 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0002g0055	9	300	0.0300	22	c.-49 others(41): Show c.-49-19488_-49-19487insTATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	300	0.0033	22	c.-49 others(41): Show c.-49-19488_-49-19487insTATATATATATATATATATACA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX8A_chr11_63969620_63981543	63976842	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	336	0.0030	22	c.52 others(31): Show c.522_*523insTGTGTGTGTGTGTGTGTGTGTC	COX8A	ENSG00000176340.4	transcript	ENST00000314133.4	protein_coding		300		chr11	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	400	0.0025	22	c.71+ others(35): Show c.71+822_71+823insTTCTTTCTTTCTTTCTTTCTTT	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPAMD8_chr19_16887951_17031810	16987173	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0041 a0041	a0041c0023 a0041c0023	a0041c0023t0002 a0041c0023t0002	a0041c0023t0002g0258 a0041c0023t0002g0258	1	278	0.0036	22	c.139 others(41): Show c.1395+2469_1395+2470insATATATATATATATATATATAT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987177	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0124 a0124	a0124c0186 a0124c0186	a0124c0186t0001 a0124c0186t0001	a0124c0186t0001g0049 a0124c0186t0001g0049	1	278	0.0036	22	c.139 others(41): Show c.1395+2465_1395+2466insATATATATATATATATATATAT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	456	0.0022	22	c.981 others(39): Show c.981+1172_981+1173insGTGTGTGTGTATATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03927.hp2 HG02683.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0254 a0001c0001t0001g0078 a0001c0001t0001g0254	2	456	0.0044	22	c.981 others(39): Show c.981+1172_981+1173insGTGTGTGTGTGTATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	456	0.0022	22	c.981 others(39): Show c.981+1172_981+1173insGTGTGTGTGTGTGTATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03516.hp1 NA20300.hp1 HG01109.hp1 HG03516.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0163 a0002c0002t0001g0090 a0002c0002t0002g0046 a0001c0001t0001g0163 a0002c0002t0001g0090 a0002c0002t0002g0046	3	330	0.0091	22	c.-31 others(33): Show c.-3149_-3148insTATATATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPED1_chr7_120983711_121302442	121088763	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	140	0.0071	22	c.617 others(39): Show c.617-8928_617-8907dupAAAAAAAAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121189760	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp2 HG01884.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0021 a0001c0001t0006g0124 a0001c0001t0005g0021 a0001c0001t0006g0124	2	140	0.0143	22	c.205 others(43): Show c.2056-46937_2056-46916dupTATATATATATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121199693	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	140	0.0071	22	c.205 others(43): Show c.2056-37020_2056-37019insGAAAGAAAGAAAGAAAGAAAGA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(15): Show AAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02135.hp2 others(7): Show HG01069.hp1 HG01071.hp2 HG02135.hp2 HG03139.hp2 HG04204.hp2 NA18947.hp2 NA18986.hp2 NA18998.hp2 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0217 others(7): Show a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0217 a0001c0001t0001g0253 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0285	10	332	0.0301	22	c.308 others(39): Show c.308-3203_308-3202insAAAAAAGAAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPHXL_chr16_75709131_75731490	75725753	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	388	0.0026	22	c.25+ others(35): Show c.25+643_25+664dupAAAAAAAAAAAAAAAAAAAAAA	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2			chr16	TogoVar

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Search Results (Total: 10000 hits)