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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CORIN_chr4_47589001_47843067	47772076	C C	CATAGATA others(9): Show CATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	264	0.0038	16	c.410 others(33): Show c.410-8506_410-8491dupCTATCTATCTATCTAT		CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	3/21						chr4	TogoVar
CORO2A_chr9_98115975_98197637	98119798	G G	GTTTTTGT others(9): Show GTTTTTGTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	342	0.0029	16	c.49 others(27): Show c.4975_*4976insAAAAAAAAAACAAAAA		CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding					1176		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98119798	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02280.hp1 HG02280.hp2 others(1): Show HG00438.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0165 a0001c0001t0003g0013 a0001c0001t0003g0233 others(1): Show a0001c0001t0001g0165 a0001c0001t0003g0013 a0001c0001t0003g0233 a0001c0001t0003g0286	4	342	0.0117	16	c.49 others(27): Show c.4975_*4976insAAAAAAAAAAAAAAAA		CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding					1176		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98119802	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02165.hp1 NA19068.hp2 HG00558.hp1 HG02165.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0186 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0186	3	342	0.0088	16	c.49 others(27): Show c.4971_*4972insAAAAAAAAAAAAAAAA		CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding					1172		chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154327	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03209.hp2 NA18957.hp1 others(3): Show HG02083.hp2 HG03209.hp2 NA18957.hp1 NA18975.hp2 NA18982.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0008 a0001c0001t0009 a0001c0004t0042 others(2): Show a0001c0001t0008 a0001c0001t0009 a0001c0004t0042 a0001c0004t0049 a0001c0005t0001	a0001c0001t0008g0199 a0001c0001t0009g0008 a0001c0004t0042g0038 others(3): Show a0001c0001t0008g0199 a0001c0001t0009g0008 a0001c0004t0042g0038 a0001c0004t0049g0316 a0001c0005t0001g0149 a0001c0005t0001g0215	6	342	0.0175	16	c.201 others(33): Show c.201+3132_201+3133insTATATATATATATATA		CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11						chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154352	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01952.hp1 others(13): Show HG00423.hp1 HG00673.hp1 HG01952.hp1 HG02040.hp1 HG02615.hp1 HG03710.hp2 NA18747.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp2 NA18982.hp1 NA18983.hp2 NA19007.hp2 NA19067.hp1 NA19068.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017	a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0041 others(12): Show a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0041 a0001c0001t0002g0052 a0001c0001t0002g0061 a0001c0001t0002g0072 a0001c0001t0002g0135 a0001c0001t0002g0181 a0001c0001t0002g0212 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0230 a0001c0001t0005g0254 a0001c0001t0007g0209 a0001c0001t0017g0119	16	342	0.0468	16	c.201 others(33): Show c.201+3107_201+3108insGTATATATATATATAT		CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11						chr9	TogoVar
CORO2A_chr9_98115975_98197637	98163714	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03139.hp1 HG01952.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0295 a0001c0001t0003g0296	2	342	0.0059	16	c.1-6 others(29): Show c.1-6070_1-6055dupTACACACACACACACA		CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	1/11						chr9	TogoVar
CORO2B_chr15_68573993_68732806	68633514	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG04204.hp1 NA18960.hp2 HG03540.hp2 HG04204.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0104 a0001c0001t0002g0147 a0001c0001t0004g0133 a0001c0001t0001g0104 a0001c0001t0002g0147 a0001c0001t0004g0133	3	256	0.0117	16	c.16- others(33): Show c.16-11629_16-11614dupACACACACACACACAC		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO2B_chr15_68573993_68732806	68672159	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00621.hp2 others(43): Show HG00280.hp1 HG00408.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01496.hp1 HG01516.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02451.hp2 HG02572.hp1 HG02735.hp1 HG02922.hp1 HG03453.hp2 HG03490.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp2 NA18906.hp1 NA18944.hp2 NA18960.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA19002.hp2 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0026 a0001c0002t0003 a0001c0002t0006 a0001c0005t0002 a0004c0008t0002	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0105 others(43): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0243 a0001c0001t0002g0002 a0001c0001t0002g0054 a0001c0001t0002g0098 a0001c0001t0002g0172 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0003g0064 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0160 a0001c0001t0003g0164 a0001c0001t0003g0174 a0001c0001t0003g0179 a0001c0001t0003g0235 a0001c0001t0004g0090 a0001c0001t0004g0103 a0001c0001t0004g0140 a0001c0001t0004g0205 a0001c0001t0004g0220 a0001c0001t0005g0194 a0001c0001t0005g0206 a0001c0001t0006g0237 a0001c0001t0007g0163 a0001c0001t0007g0193 a0001c0001t0008g0025 a0001c0001t0009g0238 a0001c0001t0026g0055 a0001c0002t0003g0101 a0001c0002t0006g0175 a0001c0002t0006g0247 a0001c0005t0002g0045 a0004c0008t0002g0092	46	256	0.1797	16	c.217 others(35): Show c.217-22970_217-22955dupGTGTGTGTGTGTGTGT		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO7_chr16_4349542_4421596	4363515	G G	GCCAACAT others(9): Show GCCAACATGGTGAAAAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0001 a0003c0018t0001	a0003c0018t0001g0277 a0003c0018t0001g0277	1	297	0.0034	16	c.127 others(33): Show c.1275+745_1275+760dupGTTTTCACCATGTTGG		CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	14/27						chr16	TogoVar
CORT_chr1_10445031_10456998	10456117	A A	AAAGAAAA others(9): Show AAAGAAAAGAAAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	16	c.45 others(27): Show c.4522_*4523insAAGAAAAGAAAAAGAG		CORT	ENSG00000241563.4	transcript	ENST00000377049.4	protein_coding					4120		chr1	TogoVar
COTL1_chr16_84560596_84623078	84581163	A A	ATATGTAT others(9): Show ATATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02055.hp1 others(13): Show HG01243.hp1 HG01243.hp2 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0030	a0001c0001t0001g0179 a0001c0001t0001g0228 a0001c0001t0005g0081 others(13): Show a0001c0001t0001g0179 a0001c0001t0001g0228 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0115 a0001c0001t0005g0134 a0001c0001t0005g0245 a0001c0001t0005g0422 a0001c0001t0006g0370 a0001c0001t0007g0062 a0001c0001t0007g0178 a0001c0001t0007g0220 a0001c0001t0007g0250 a0001c0001t0007g0421 a0001c0001t0011g0248 a0001c0001t0030g0432	16	440	0.0364	16	c.318 others(33): Show c.318+8941_318+8942insCATACATACATACATA		COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	3/3						chr16	TogoVar
COTL1_chr16_84560596_84623078	84615853	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	440	0.0023	16	c.160 others(33): Show c.160+1632_160+1647dupCACACACACACACACA		COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3						chr16	TogoVar
COTL1_chr16_84560596_84623078	84616504	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03516.hp2 NA18945.hp1 others(7): Show HG01934.hp2 HG03516.hp2 NA18945.hp1 NA18966.hp1 NA18995.hp2 NA19009.hp2 NA19057.hp2 NA19082.hp1 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0019	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0002g0020 others(7): Show a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0005g0249 a0001c0001t0013g0008 a0001c0001t0019g0021	10	440	0.0227	16	c.160 others(31): Show c.160+981_160+996dupATTTATTTATTTATTT		COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3						chr16	TogoVar
COX10_chr17_14064504_14213677	14163236	A A	AATTTATT others(9): Show AATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18969.hp2 NA18994.hp2 others(3): Show NA18962.hp1 NA18969.hp2 NA18994.hp2 NA18995.hp1 NA19086.hp1 NA20752.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0010 a0003c0014 others(1): Show a0002c0002 a0003c0010 a0003c0014 a0003c0017	a0002c0002t0002 a0003c0010t0006 a0003c0014t0006 others(1): Show a0002c0002t0002 a0003c0010t0006 a0003c0014t0006 a0003c0017t0004	a0002c0002t0002g0210 a0003c0010t0006g0088 a0003c0010t0006g0092 others(3): Show a0002c0002t0002g0210 a0003c0010t0006g0088 a0003c0010t0006g0092 a0003c0014t0006g0044 a0003c0017t0004g0084 a0003c0017t0004g0085	6	322	0.0186	16	c.695 others(33): Show c.695+3311_695+3326dupTTTATTTATTTATTTA		COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
COX16_chr14_70320081_70364683	70328072	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01255.hp2 HG01361.hp1 others(15): Show HG00323.hp1 HG01255.hp2 HG01361.hp1 HG01943.hp2 HG02083.hp2 HG02523.hp2 HG02622.hp2 HG02735.hp1 HG02738.hp1 HG03710.hp2 HG03942.hp2 NA18947.hp1 NA18963.hp1 NA18977.hp1 NA18979.hp2 NA18995.hp2 NA19006.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0060 a0001c0001t0002g0005 a0001c0001t0002g0031 others(9): Show a0001c0001t0001g0060 a0001c0001t0002g0005 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0155 a0001c0001t0002g0167 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0206 a0001c0001t0002g0211 a0001c0001t0002g0224 a0001c0001t0003g0145	18	376	0.0479	16	c.204 others(33): Show c.204+1086_204+1101dupAAAAAAAAAAAAAAAA		COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	3/3						chr14	TogoVar
COX16_chr14_70320081_70364683	70354841	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG01891.hp1 others(2): Show HG01109.hp1 HG01175.hp2 HG01891.hp1 HG02647.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0272 others(2): Show a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274	5	376	0.0133	16	c.69+ others(31): Show c.69+4662_69+4677dupACACACACACACACAC		COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	1/3						chr14	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02300.hp1 NA18990.hp1 others(2): Show HG01981.hp2 HG02300.hp1 NA18990.hp1 NA19011.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 a0001c0001t0001 a0001c0001t0009 a0001c0002t0002	a0001c0001t0001g0038 a0001c0001t0001g0161 a0001c0001t0009g0131 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0161 a0001c0001t0009g0131 a0001c0002t0002g0220	5	384	0.0130	16	c.434 others(31): Show c.434+164_434+165insATATATATTTTTTTTT		COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5						chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(9): Show AAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00597.hp1 others(30): Show HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp2 HG02735.hp2 HG03492.hp1 HG03688.hp2 HG03834.hp1 HG04228.hp2 NA18747.hp2 NA18943.hp2 NA18957.hp2 NA18960.hp1 NA18975.hp2 NA18983.hp2 NA19002.hp1 NA19066.hp1 NA19074.hp2 NA19077.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0052 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0180 a0001c0001t0006g0012 a0001c0001t0008g0034 a0001c0001t0008g0227 a0001c0001t0009g0035 a0001c0001t0010g0033 a0001c0002t0002g0228	33	384	0.0859	16	c.434 others(31): Show c.434+164_434+165insATATATATATTTTTTT		COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5						chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01981.hp1 HG02300.hp2 others(13): Show HG00408.hp1 HG01981.hp1 HG02300.hp2 HG02523.hp1 HG02735.hp1 HG03239.hp1 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp2 NA18959.hp2 NA18971.hp1 NA18981.hp1 NA19006.hp2 NA19043.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0002 a0001c0002t0034	a0001c0001t0001g0080 a0001c0001t0014g0145 a0001c0002t0002g0010 others(7): Show a0001c0001t0001g0080 a0001c0001t0014g0145 a0001c0002t0002g0010 a0001c0002t0002g0023 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0034g0237	16	384	0.0417	16	c.434 others(31): Show c.434+164_434+165insATATATATATATTTTT		COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5						chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19006.hp1 NA20905.hp1 NA19004.hp1 NA19006.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0002t0002 a0001c0001t0030 a0001c0002t0002	a0001c0001t0030g0105 a0001c0002t0002g0055 a0001c0001t0030g0105 a0001c0002t0002g0055	3	384	0.0078	16	c.434 others(31): Show c.434+164_434+165insATATATATATATATTT		COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5						chr4	TogoVar
COX4I2_chr20_31632912_31650006	31633906	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	300	0.0033	16	c.-40 others(27): Show c.-4057_-4056insAAAAAAAAAAAAAAAA		COX4I2	ENSG00000131055.5	transcript	ENST00000376075.4	protein_coding					4005		chr20	TogoVar
COX4I2_chr20_31632912_31650006	31634624	C C	CTTTATTT others(9): Show CTTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01884.hp2 HG02738.hp2 others(1): Show HG00741.hp1 HG01884.hp2 HG02738.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0101 a0002c0002t0001g0077 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0101 a0002c0002t0001g0077 a0002c0002t0001g0080	4	300	0.0133	16	c.-33 others(27): Show c.-3339_-3338insTTTATTTATTTATTTA		COX4I2	ENSG00000131055.5	transcript	ENST00000376075.4	protein_coding					3287		chr20	TogoVar
COX4I2_chr20_31632912_31650006	31634652	A A	ATTTATTT others(9): Show ATTTATTTATTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01346.hp1 HG01891.hp2 others(15): Show HG01109.hp1 HG01346.hp1 HG01891.hp2 HG02055.hp2 HG02451.hp1 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0023 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0119	18	300	0.0600	16	c.-33 others(27): Show c.-3311_-3310insTTTATTTATTTATTTT		COX4I2	ENSG00000131055.5	transcript	ENST00000376075.4	protein_coding					3259		chr20	TogoVar
COX4I2_chr20_31632912_31650006	31649058	C C	CTATTTAT others(9): Show CTATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01516.hp2 HG01891.hp2 others(2): Show HG01243.hp2 HG01516.hp2 HG01891.hp2 HG03130.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0119	5	300	0.0167	16	c.41 others(27): Show c.4154_*4155insTATTTATTTATTTATT		COX4I2	ENSG00000131055.5	transcript	ENST00000376075.4	protein_coding					4053		chr20	TogoVar
COX6A2_chr16_31422731_31433360	31427916	C C	CCGCCCCG others(9): Show CCGCCCCGCGCGCCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00642.hp1 others(59): Show HG00099.hp1 HG00280.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG04228.hp2 HG06807.hp1 NA18946.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA19002.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19057.hp1 NA19064.hp1 NA19074.hp1 NA19084.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0002t0001g0025 a0001c0002t0001g0075	62	412	0.1505	16	c.211 others(29): Show c.211-60_211-59insCGGGGCGCGCGGGGCG		COX6A2	ENSG00000156885.6	transcript	ENST00000287490.5	protein_coding	2/2						chr16	TogoVar
COX6A2_chr16_31422731_31433360	31427918	G G	GCCCCGCG others(9): Show GCCCCGCGCGCCCCGCT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19055.hp2 NA18946.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0044 a0001c0001t0001g0048	2	412	0.0049	16	c.211 others(29): Show c.211-62_211-61insAGCGGGGCGCGCGGGG		COX6A2	ENSG00000156885.6	transcript	ENST00000287490.5	protein_coding	2/2						chr16	TogoVar
COX6A2_chr16_31422731_31433360	31427922	G G	GCACCCCC others(9): Show GCACCCCCCCCCGCAGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02970.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	3	412	0.0073	16	c.211 others(29): Show c.211-66_211-65insGCTGCGGGGGGGGGTG		COX6A2	ENSG00000156885.6	transcript	ENST00000287490.5	protein_coding	2/2						chr16	TogoVar
COX7A2_chr6_75232787_75248801	75248081	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	382	0.0026	16	c.-43 others(27): Show c.-4363_-4348dupAAAAAAAAAAAAAAAA		COX7A2	ENSG00000112695.13	transcript	ENST00000684430.2	protein_coding					4281		chr6	TogoVar
COX7B2_chr4_46729827_46914245	46734988	G G	GGGATAGG others(9): Show GGGATAGGTTCCATTCT	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0003 a0000c0002t0003	a0000c0002t0003g0233 a0000c0002t0003g0233	1	300	0.0033	16	c.189 others(23): Show c.189_204dupAGAATGGAACCTATCC	p.Pro others(4): Show p.Pro69fs	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	3/3	394/556	204/246	68/81			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46750195	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19030.hp2 HG00673.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0071 a0001c0001t0002g0031 a0001c0001t0002g0071	2	300	0.0067	16	c.-49 others(35): Show c.-49-14970_-49-14955dupGTGTGTGTGTGTGTGT		COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2						chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754716	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	300	0.0033	16	c.-49 others(35): Show c.-49-19476_-49-19475insTATATATATATATATA		COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2						chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754718	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01346.hp2 others(21): Show HG01257.hp1 HG01258.hp1 HG01346.hp2 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02132.hp2 HG02148.hp2 HG02293.hp2 HG03710.hp1 HG04204.hp2 NA18944.hp1 NA18948.hp1 NA18954.hp1 NA18960.hp1 NA18974.hp1 NA18994.hp1 NA19001.hp1 NA19007.hp1 NA19012.hp2 NA19058.hp1 NA19064.hp2 NA19083.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0130 a0001c0001t0001g0131 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0254 a0001c0001t0003g0107 a0001c0001t0003g0148 a0001c0001t0003g0176 a0001c0001t0003g0225 a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0001t0003g0235 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0275 a0001c0001t0003g0278 a0001c0001t0003g0281	24	300	0.0800	16	c.-49 others(35): Show c.-49-19478_-49-19477insTATATATATATATATA		COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2						chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754720	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18941.hp2 NA18957.hp2 others(1): Show HG02451.hp2 NA18941.hp2 NA18957.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0220 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0220 a0001c0001t0003g0231	4	300	0.0133	16	c.-49 others(35): Show c.-49-19480_-49-19479insTATATATATATATATA		COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2						chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	300	0.0033	16	c.-49 others(35): Show c.-49-19488_-49-19487insTATATATATATATACA		COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2						chr4	TogoVar
COX7B2_chr4_46729827_46914245	46907848	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	300	0.0033	16	c.-10 others(35): Show c.-105+1296_-105+1311dupAAAAAAAAAAAAAAAA		COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2						chr4	TogoVar
CPA1_chr7_130375494_130393108	130392347	G G	GACACACA others(9): Show GACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	16	c.43 others(27): Show c.4336_*4337insACACACACACACACAC		CPA1	ENSG00000091704.10	transcript	ENST00000011292.8	protein_coding					4240		chr7	TogoVar
CPA2_chr7_130261863_130294798	130267771	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	400	0.0025	16	c.71+ others(29): Show c.71+820_71+821insTTCTTTCTTTCTTTCT		CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTCTCTCT others(9): Show CTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp1 HG01993.hp1 HG00642.hp1 HG01255.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067	3	400	0.0075	16	c.71+ others(29): Show c.71+824_71+825insCTCTTTCTTTCTTTCT		CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(44): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00733.hp1 HG00738.hp2 HG01071.hp1 HG01433.hp1 HG01496.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02622.hp2 HG02717.hp1 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03942.hp2 HG04184.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18945.hp1 NA18955.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18999.hp1 NA19005.hp2 NA19009.hp2 NA19055.hp1 NA19058.hp2 NA19065.hp1 NA19072.hp1 NA19075.hp2 NA19082.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0001c0001t0001 a0001c0002t0001 a0002c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0021 others(30): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0002t0001g0020 a0001c0002t0001g0046 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0207 a0002c0005t0001g0047	47	400	0.1175	16	c.71+ others(29): Show c.71+868_71+883dupTTTCTTTCTTTCTTTC		CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA4_chr7_130288161_130329180	130308723	A A	ATTTTTTT others(9): Show ATTTTTTTGTATTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01978.hp1 HG02280.hp2 others(16): Show HG01099.hp2 HG01978.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03098.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 others(2): Show a0001c0001 a0001c0004 a0003c0003 a0003c0020 a0003c0021	a0001c0001t0027 a0001c0004t0010 a0001c0004t0014 others(4): Show a0001c0001t0027 a0001c0004t0010 a0001c0004t0014 a0003c0003t0020 a0003c0003t0031 a0003c0020t0024 a0003c0021t0032	a0001c0001t0027g0118 a0001c0004t0010g0005 a0001c0004t0010g0036 others(12): Show a0001c0001t0027g0118 a0001c0004t0010g0005 a0001c0004t0010g0036 a0001c0004t0010g0167 a0001c0004t0010g0170 a0001c0004t0010g0171 a0001c0004t0014g0005 a0001c0004t0014g0036 a0001c0004t0014g0168 a0001c0004t0014g0169 a0003c0003t0020g0155 a0003c0003t0020g0186 a0003c0003t0031g0267 a0003c0020t0024g0272 a0003c0021t0032g0271	19	402	0.0473	16	c.793 others(31): Show c.793+333_793+334insGTATTTTTTTTTTTTT		CPA4	ENSG00000128510.12	transcript	ENST00000222482.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA4_chr7_130288161_130329180	130308723	A A	ATTTTTTT others(9): Show ATTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp1 HG02965.hp2 others(1): Show HG02109.hp1 HG02886.hp1 HG02965.hp2 HG03453.hp1	a0006 a0007 a0006 a0007	a0006c0010 a0007c0013 a0006c0010 a0007c0013	a0006c0010t0005 a0007c0013t0003 a0006c0010t0005 a0007c0013t0003	a0006c0010t0005g0023 a0006c0010t0005g0054 a0007c0013t0003g0120 a0006c0010t0005g0023 a0006c0010t0005g0054 a0007c0013t0003g0120	4	402	0.0100	16	c.793 others(31): Show c.793+333_793+334insGTTTTTTTTTTTTTTT		CPA4	ENSG00000128510.12	transcript	ENST00000222482.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA4_chr7_130288161_130329180	130308723	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0003 a0009c0015t0003	a0009c0015t0003g0128 a0009c0015t0003g0128	1	402	0.0025	16	c.793 others(31): Show c.793+334_793+335insTTTTTTTTTTTTTTTT		CPA4	ENSG00000128510.12	transcript	ENST00000222482.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA4_chr7_130288161_130329180	130308850	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02622.hp2 HG02895.hp1 others(4): Show HG01099.hp2 HG02622.hp2 HG02895.hp1 HG03098.hp2 HG03195.hp1 NA18906.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0020 a0001c0004 a0003c0020	a0001c0004t0010 a0001c0004t0014 a0003c0020t0024 a0001c0004t0010 a0001c0004t0014 a0003c0020t0024	a0001c0004t0010g0005 a0001c0004t0014g0005 a0003c0020t0024g0272 a0001c0004t0010g0005 a0001c0004t0014g0005 a0003c0020t0024g0272	7	402	0.0174	16	c.793 others(31): Show c.793+468_793+469insTTTTTTTTTTTTTTTT		CPA4	ENSG00000128510.12	transcript	ENST00000222482.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA6_chr8_67417038_67751360	67439596	A A	AAAAAAGA others(9): Show AAAAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18968.hp1 NA18968.hp2 NA18952.hp1 NA18968.hp1 NA18968.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0069 a0001c0001t0001g0081 a0002c0002t0001g0122 a0001c0001t0001g0069 a0001c0001t0001g0081 a0002c0002t0001g0122	3	144	0.0208	16	c.839 others(33): Show c.839-5372_839-5357dupCTTTTTCTTTCTTTTT		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10						chr8	TogoVar
CPA6_chr8_67417038_67751360	67448639	G G	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG01255.hp1 others(17): Show HG00140.hp1 HG01074.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp1 HG02135.hp1 HG02559.hp1 HG02615.hp1 HG02896.hp2 HG03491.hp1 HG03516.hp2 HG03688.hp2 NA18964.hp2 NA18981.hp2 NA18991.hp2 NA19043.hp1 NA19065.hp1 NA19066.hp1 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0004c0005t0001 a0007c0010t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0037 others(17): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0142 a0001c0001t0003g0001 a0002c0002t0001g0061 a0002c0002t0001g0078 a0002c0002t0001g0082 a0002c0002t0001g0092 a0002c0002t0001g0109 a0002c0002t0001g0141 a0004c0005t0001g0117 a0007c0010t0001g0006	20	144	0.1389	16	c.839 others(35): Show c.839-14400_839-14399insTTTTTTTTTTTTTTTT		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10						chr8	TogoVar
CPA6_chr8_67417038_67751360	67560160	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	144	0.0069	16	c.193 others(35): Show c.193-42129_193-42114dupATATATATATATATAT		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10						chr8	TogoVar
CPA6_chr8_67417038_67751360	67642793	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp2 HG03540.hp2 HG02055.hp2 HG02886.hp2 HG03540.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0001 a0001c0001t0001 a0005c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0051 a0005c0004t0001g0024 a0001c0001t0001g0004 a0001c0001t0001g0051 a0005c0004t0001g0024	3	144	0.0208	16	c.117 others(35): Show c.117-18558_117-18543dupTGTGTGTGTGTGTGTG		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10						chr8	TogoVar
CPA6_chr8_67417038_67751360	67678225	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	144	0.0069	16	c.117 others(35): Show c.117-53975_117-53974insTGTGTGTGTGTGTGTG		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10						chr8	TogoVar
CPA6_chr8_67417038_67751360	67681200	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp2 HG03491.hp2 others(2): Show HG02895.hp2 HG03130.hp2 HG03491.hp2 HG03492.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0084 others(2): Show a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0112 a0001c0001t0005g0100	5	144	0.0347	16	c.117 others(35): Show c.117-56965_117-56950dupAAAAAAAAAAAAAAAA		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10						chr8	TogoVar

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