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
CORO7_chr16_4349542_4421596	4395996	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0216 a0002c0001t0001g0216	1	297	0.0034	21	c.565 others(36): Show c.565-658_565-657insCACACACACACACACACACAC	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	6/27			chr16	TogoVar
COX16_chr14_70320081_70364683	70328072	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	376	0.0027	21	c.204 others(38): Show c.204+1081_204+1101dupAAAAAAAAAAAAAAAAAAAAA	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	3/3			chr14	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02145.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	384	0.0052	21	c.434 others(36): Show c.434+164_434+165insATATATATATATATATTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX6B2_chr19_55344704_55359719	55354280	G G	GCCCCCAC others(14): Show GCCCCCACCAACCCGGCCCCGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	390	0.0026	21	c.112 others(36): Show c.112+109_112+129dupGCGGGGCCGGGTTGGTGGGGG	COX6B2	ENSG00000160471.13	transcript	ENST00000326529.9	protein_coding	2/4			chr19	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02083.hp1 HG02132.hp2 others(7): Show HG00609.hp1 HG02083.hp1 HG02132.hp2 HG02735.hp1 HG03831.hp2 NA18944.hp2 NA18954.hp1 NA18983.hp2 NA19063.hp1 NA19065.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0013 a0003c0003t0003 a0001c0001t0003 a0001c0001t0013 a0003c0003t0003	a0001c0001t0003g0003 a0001c0001t0003g0051 a0001c0001t0013g0053 others(1): Show a0001c0001t0003g0003 a0001c0001t0003g0051 a0001c0001t0013g0053 a0003c0003t0003g0012	10	406	0.0246	21	c.-31 others(32): Show c.-3110_-3090dupTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7A2_chr6_75232787_75248801	75248081	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	382	0.0026	21	c.-43 others(32): Show c.-4368_-4348dupAAAAAAAAAAAAAAAAAAAAA	COX7A2	ENSG00000112695.13	transcript	ENST00000684430.2	protein_coding		4281		chr6	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGATATA others(14): Show GTGATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	300	0.0033	21	c.-49 others(40): Show c.-49-19488_-49-19487insTATATATATATATATATATCA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46880993	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03688.hp1 HG01123.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0152 a0001c0001t0001g0153	2	300	0.0067	21	c.-10 others(42): Show c.-105+28166_-105+28167insTTTTTTTTTTTTTTTTTTTTT	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46907848	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18956.hp1 NA18960.hp2 others(2): Show HG02615.hp2 NA18956.hp1 NA18960.hp2 NA18966.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(2): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016	5	300	0.0167	21	c.-10 others(40): Show c.-105+1291_-105+1311dupAAAAAAAAAAAAAAAAAAAAA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2			chr4	TogoVar
CPA4_chr7_130288161_130329180	130308850	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG02717.hp1 HG02886.hp1	a0007 a0009 a0007 a0009	a0007c0013 a0009c0015 a0007c0013 a0009c0015	a0007c0013t0003 a0009c0015t0003 a0007c0013t0003 a0009c0015t0003	a0007c0013t0003g0120 a0009c0015t0003g0128 a0007c0013t0003g0120 a0009c0015t0003g0128	2	402	0.0050	21	c.793 others(36): Show c.793+468_793+469insTTTTTTTTTTTTTTTTTTTTT	CPA4	ENSG00000128510.12	transcript	ENST00000222482.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA6_chr8_67417038_67751360	67560160	G G	GTATATAT others(14): Show GTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	144	0.0069	21	c.193 others(40): Show c.193-42114_193-42113insATATATATATATATATATATA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67607169	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	144	0.0069	21	c.192 others(40): Show c.192+16986_192+17006dupAGAAGAAGAAGAAGAAGAAGA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67607251	T T	TCTTCTTC others(14): Show TCTTCTTCTTCTTCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0077 a0003c0003t0001g0077	1	144	0.0069	21	c.192 others(40): Show c.192+16924_192+16925insGAGGAGGAGAAGAAGAAGAAG	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67681200	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0090 a0005c0004t0001g0090	1	144	0.0069	21	c.117 others(40): Show c.117-56950_117-56949insAAAAAAAAAAAAAAAAAAAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0107 a0107	a0107c0122 a0107c0122	a0107c0122t0001 a0107c0122t0001	a0107c0122t0001g0023 a0107c0122t0001g0023	1	278	0.0036	21	c.139 others(40): Show c.1395+2463_1395+2464insATATATATATATATATATATA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TATATATA others(14): Show TATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	330	0.0030	21	c.-31 others(32): Show c.-3149_-3148insTATATATATATATATATATAT	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPED1_chr7_120983711_121302442	121047646	T T	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0007 a0001c0003t0003 a0001c0003t0007	a0001c0003t0003g0024 a0001c0003t0007g0012 a0001c0003t0003g0024 a0001c0003t0007g0012	2	140	0.0143	21	c.540 others(36): Show c.540+704_540+724dupCTTCTTCTTCTTCTTCTTCTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121199693	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0137 a0002c0002t0002g0137	1	140	0.0071	21	c.205 others(42): Show c.2056-37021_2056-37020insGAAAGAAAGAAAGAAAGAAAG	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22			chr7	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAG others(14): Show AAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18995.hp2 NA19005.hp1 HG00423.hp2 NA18995.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097	3	332	0.0090	21	c.308 others(38): Show c.308-3203_308-3202insAAAAAGAAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLANE1_chr5_37101235_37254376	37187060	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0261 a0007c0006t0001g0261	1	268	0.0037	21	c.408 others(38): Show c.4080+353_4080+354insTTTTGTTTTTTTTTTTTTTTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	23/52			chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871406	G G	GGAGAGAG others(14): Show GGAGAGAGAGAGAGAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0015	1	378	0.0027	21	c.-38 others(30): Show c.-388_-387insGAGAGAGAGAGAGAGAGAGAC	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		171		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0002 a0001c0001t0067g0002	1	378	0.0027	21	c.-33 others(30): Show c.-336_-335insGAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG02723.hp2 others(3): Show HG01243.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG03209.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0006 a0003c0004t0012 a0003c0004t0004 a0003c0004t0006 a0003c0004t0012	a0003c0004t0004g0157 a0003c0004t0004g0165 a0003c0004t0004g0179 others(3): Show a0003c0004t0004g0157 a0003c0004t0004g0165 a0003c0004t0004g0179 a0003c0004t0006g0176 a0003c0004t0012g0282 a0003c0004t0012g0284	6	340	0.0177	21	c.-10 others(36): Show c.-10-585_-10-565dupTTTTTTTTTTTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131650744	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	94	0.0106	21	c.681 others(40): Show c.681+18910_681+18930dupTTTTTTTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131743962	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	94	0.0106	21	c.181 others(40): Show c.181-20358_181-20338dupTTTTTTTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36768225	C C	CTTTTTTT others(14): Show CTTTTTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03927.hp1 NA20752.hp2 HG02273.hp2 HG03927.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0110 a0001c0001t0001g0176 a0001c0001t0005g0357 a0001c0001t0001g0110 a0001c0001t0001g0176 a0001c0001t0005g0357	3	380	0.0079	21	c.738 others(38): Show c.738-2850_738-2849insAAAAAAAAAAAAAGAAAAAAA	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	10/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89570966	G G	GACGGGAG others(14): Show GACGGGAGGAGGTGAGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02886.hp1 HG02723.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0006 a0001c0001t0001 a0001c0007t0006	a0001c0001t0001g0063 a0001c0007t0006g0064 a0001c0001t0001g0063 a0001c0007t0006g0064	2	348	0.0058	21	c.-49 others(32): Show c.-4932_-4931insACGGGAGGAGGTGAGCGGGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4791		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89580434	A A	AGAACATC others(14): Show AGAACATCTCACCCATCACACG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0004 a0007c0022t0004	a0007c0022t0004g0288 a0007c0022t0004g0288	1	348	0.0029	21	c.357 others(38): Show c.357+2742_357+2762dupTCACCCATCACACGGAACATC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89580917	T T	TGGAACAT others(14): Show TGGAACATCTCACCCATCACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 NA18522.hp2 HG01891.hp2 HG02145.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0338 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0338	3	348	0.0086	21	c.358 others(38): Show c.358-2771_358-2751dupTCACCCATCACACGGAACATC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588004	C C	CGTGTCAC others(14): Show CGTGTCACCCCCATGTCACCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0196 a0001c0002t0002g0196	1	348	0.0029	21	c.928 others(36): Show c.928-671_928-670insGTGTCACCCCCATGTCACCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE8_chr12_38647203_38910591	38736234	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02630.hp1 others(5): Show HG02055.hp2 HG02559.hp1 HG02630.hp1 HG02922.hp1 HG02965.hp2 HG03195.hp2 NA18522.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0183 a0001c0001t0005g0310 a0001c0001t0005g0314 others(5): Show a0001c0001t0003g0183 a0001c0001t0005g0310 a0001c0001t0005g0314 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0323	8	342	0.0234	21	c.723 others(38): Show c.723-5877_723-5876insCACACACACACACACACACAC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPQ_chr8_96640242_97148501	96854530	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 NA18964.hp1 others(1): Show HG01516.hp1 HG01517.hp2 NA18964.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0032 a0001c0002t0001g0002 a0001c0002t0001g0003 others(1): Show a0001c0001t0001g0032 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0096	4	126	0.0318	21	c.641 others(40): Show c.641+19359_641+19379dupAAAAAAAAAAAAAAAAAAAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926570	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	126	0.0079	21	c.850 others(40): Show c.850-39360_850-39359insTTCTTCTTCTTCTTCTTCTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(14): Show CTCTTCCTCTTCCTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	126	0.0079	21	c.850 others(40): Show c.850-39354_850-39353insCTCTTCCTCTTCTTCTTCTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(14): Show CTCTTCCTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp2 HG02886.hp1 others(1): Show HG00733.hp2 HG02109.hp2 HG02886.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0042 a0001c0002t0001g0096 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0042 a0001c0002t0001g0096 a0001c0002t0002g0039	4	126	0.0318	21	c.850 others(40): Show c.850-39354_850-39353insCTCTTCTTCTTCTTCTTCTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 homoSapiens_chm13v2.hp1 HG01517.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0027 a0001c0002t0001g0079 a0001c0001t0001g0027 a0001c0002t0001g0079	2	126	0.0159	21	c.850 others(40): Show c.850-39331_850-39311dupTCTTCTTCTTCTTCTTCTTCT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926624	T T	TTCTTCTT others(14): Show TTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	126	0.0079	21	c.850 others(40): Show c.850-39311_850-39310insTCTTCTTCTTCTTCTTCTTCC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7			chr8	TogoVar
CPQ_chr8_96640242_97148501	97147510	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02895.hp2 others(1): Show HG02257.hp1 HG02280.hp1 HG02895.hp2 HG03195.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0011 a0001c0001 a0001c0002 a0008c0011	a0001c0001t0002 a0001c0002t0001 a0008c0011t0002 a0001c0001t0002 a0001c0002t0001 a0008c0011t0002	a0001c0001t0002g0011 a0001c0001t0002g0029 a0001c0002t0001g0120 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0029 a0001c0002t0001g0120 a0008c0011t0002g0037	4	126	0.0318	21	c.43 others(32): Show c.4327_*4328insAAAAAAAAAAAAAAAAAAAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding		4010		chr8	TogoVar
CPSF1_chr8_144388231_144414335	144403717	T T	TATGTGCT others(14): Show TATGTGCTACCATGCCCGGCTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01070.hp2 others(19): Show HG00323.hp1 HG00741.hp1 HG01070.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG02109.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0016 others(1): Show a0001c0001 a0001c0014 a0001c0016 a0001c0019	a0001c0001t0001 a0001c0014t0001 a0001c0016t0001 others(1): Show a0001c0001t0001 a0001c0014t0001 a0001c0016t0001 a0001c0019t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 others(12): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0014t0001g0145 a0001c0016t0001g0148 a0001c0019t0001g0149	22	350	0.0629	21	c.145 others(38): Show c.145-2045_145-2044insTAGCCGGGCATGGTAGCACAT	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	2/37			chr8	TogoVar
CPSF2_chr14_92116969_92177145	92165854	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03492.hp2 NA18612.hp1 NA19055.hp2 others(1): Show HG03492.hp2 NA18612.hp1 NA19055.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 others(1): Show a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063	a0001c0001t0060g0116 a0001c0001t0061g0004 a0001c0001t0062g0123 others(1): Show a0001c0001t0060g0116 a0001c0001t0061g0004 a0001c0001t0062g0123 a0001c0001t0063g0118	4	388	0.0103	21	c.41 others(32): Show c.4115_*4135dupTTTTTTTTTTTTTTTTTTTTT	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16	4136	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF3_chr2_9418654_9478101	9436774	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAATAAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	230	0.0044	21	c.760 others(36): Show c.760+415_760+416insAAAAAAAAAAAAAAATAATAA	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF3_chr2_9418654_9478101	9436774	A A	AAAAAAAA others(14): Show AAAAAAAAAAATAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	230	0.0044	21	c.760 others(36): Show c.760+415_760+416insAAAAAAAATAAAAAAAAATAA	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF3_chr2_9418654_9478101	9436774	A A	AAAAAAAA others(14): Show AAAAAAAAAAATAAAAAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01074.hp1 others(29): Show HG00099.hp2 HG00639.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG02257.hp2 HG02280.hp2 HG02523.hp1 HG02622.hp1 HG02698.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03453.hp2 HG04115.hp2 HG04199.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0049 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0005t0001g0180	32	230	0.1391	21	c.760 others(36): Show c.760+415_760+416insAAAAAAAATAAAAAATAATAA	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF3_chr2_9418654_9478101	9436774	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp2 others(30): Show HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG01981.hp1 HG02132.hp2 HG02165.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18950.hp1 NA19004.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 others(29): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0129 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0210 a0001c0003t0001g0166 a0001c0003t0001g0167	33	230	0.1435	21	c.760 others(36): Show c.760+415_760+435dupATAATAATAATAATAATAATA	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	364	0.0028	21	c.103 others(38): Show c.103+1490_103+1491insATATATATATATATATTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	364	0.0028	21	c.103 others(38): Show c.103+1490_103+1491insATATATATATATATTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19058.hp2 HG04184.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0133 a0001c0001t0003g0134	2	364	0.0055	21	c.103 others(38): Show c.103+1490_103+1491insATATATATATATTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp2 HG02895.hp1 others(7): Show HG02735.hp1 HG02735.hp2 HG02895.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03942.hp1 NA18961.hp1 NA19000.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0158 a0001c0001t0003g0159 others(6): Show a0001c0001t0003g0016 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165	10	364	0.0275	21	c.103 others(38): Show c.103+1490_103+1491insATATATATATTTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18969.hp2 NA19070.hp1 NA18956.hp1 NA18969.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191	3	364	0.0082	21	c.103 others(38): Show c.103+1490_103+1491insATATATATTTTTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	364	0.0028	21	c.103 others(38): Show c.103+1490_103+1491insATATATTTTTTTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar

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