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
POLR1G_chr19_45401644_45415737	45410565	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0079 a0003c0003t0079	a0003c0003t0079g0001 a0003c0003t0079g0001	1	406	0.0025	17	c.10 others(28): Show c.1064_*1065insGTGTGTGTGTGTGTGTG		POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3				1065		chr19	TogoVar
POLR1G_chr19_45401644_45415737	45410580	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0060 a0002c0002t0060	a0002c0002t0060g0002 a0002c0002t0060g0002	1	406	0.0025	17	c.10 others(28): Show c.1082_*1098dupGTGTGTGTGTGTGTGGT		POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3				1099	INFO_REALIGN_3_PRIME	chr19	TogoVar
POLR2C_chr16_57457679_57477009	57475693	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	17	c.45 others(28): Show c.4574_*4575insCTCTCTCTCTCTCTCTC		POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding					3685		chr16	TogoVar
POLR2C_chr16_57457679_57477009	57475754	T T	TTCTCCCC others(10): Show TTCTCCCCTCTCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01256.hp1 others(31): Show HG00323.hp1 HG00597.hp2 HG01256.hp1 HG01258.hp1 HG01496.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp1 HG02129.hp1 HG02155.hp2 HG02273.hp1 NA18747.hp1 NA18946.hp1 NA18956.hp2 NA18960.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp2 NA19002.hp2 NA19012.hp1 NA19057.hp1 NA19068.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19089.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010	a0001c0002t0001g0002 a0001c0002t0001g0027 a0001c0002t0001g0038 others(6): Show a0001c0002t0001g0002 a0001c0002t0001g0027 a0001c0002t0001g0038 a0001c0002t0001g0050 a0001c0002t0003g0002 a0001c0002t0004g0002 a0001c0002t0004g0027 a0001c0002t0009g0002 a0001c0002t0010g0054	34	390	0.0872	17	c.46 others(28): Show c.4635_*4636insTCTCCCCTCTCTCCCTC		POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding					3746		chr16	TogoVar
POLR2D_chr2_127838553_127863155	127844107	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG03486.hp2 HG02257.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0058 a0001c0001t0043 a0001c0001t0058	a0001c0001t0043g0196 a0001c0001t0058g0235 a0001c0001t0043g0196 a0001c0001t0058g0235	2	358	0.0056	17	c.39 others(28): Show c.3983_*3999dupTTTTTTTTTTTTTTTTT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	4/4				3999		chr2	TogoVar
POLR2D_chr2_127838553_127863155	127850440	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18522.hp1 HG03139.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0054 a0001c0001t0020 a0001c0001t0054	a0001c0001t0020g0164 a0001c0001t0054g0132 a0001c0001t0020g0164 a0001c0001t0054g0132	2	358	0.0056	17	c.350 others(32): Show c.350+133_350+149dupTTTTTTTTTTTTTTTTT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	3/3						chr2	TogoVar
POLR2D_chr2_127838553_127863155	127856290	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG06807.hp2 others(1): Show HG02055.hp2 HG02886.hp1 HG06807.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0020 a0001c0001t0055 others(1): Show a0001c0001t0012 a0001c0001t0020 a0001c0001t0055 a0001c0001t0060	a0001c0001t0012g0176 a0001c0001t0020g0178 a0001c0001t0055g0177 others(1): Show a0001c0001t0012g0176 a0001c0001t0020g0178 a0001c0001t0055g0177 a0001c0001t0060g0124	4	358	0.0112	17	c.73+ others(32): Show c.73+1721_73+1737dupTTTTTTTTTTTTTTTTT		POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	1/3						chr2	TogoVar
POLR2E_chr19_1081574_1100375	1085623	T T	TGTCTGTC others(10): Show TGTCTGTCTCCCCCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0312 a0001c0001t0117g0312	1	442	0.0023	17	c.30 others(28): Show c.3095_*3111dupGGCGGGGGGAGACAGAC		POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding					950		chr19	TogoVar
POLR2E_chr19_1081574_1100375	1090954	T T	TCCAGGAT others(10): Show TCCAGGATGTACTTGGGG	frameshift_variant frameshift_variant	HIGH	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0087 a0002c0006t0003g0087	1	442	0.0023	17	c.366 others(24): Show c.366_382dupCCCCAAGTACATCCTGG	p.Glu others(5): Show p.Glu128fs	POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding	4/8	442/2854	382/633	128/210			chr19	TogoVar
POLR2E_chr19_1081574_1100375	1098987	C C	CCAGTGCC others(10): Show CCAGTGCCTGGCAGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0087 a0002c0006t0003g0087	1	442	0.0023	17	c.-36 others(28): Show c.-3673_-3672insCGTCCTGCCAGGCACTG		POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding					3613		chr19	TogoVar
POLR2M_chr15_57701714_57722557	57706113	T T	TGCTTGAG others(10): Show TGCTTGAGGCGGTGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	404	0.0025	17	c.-73 others(26): Show c.-730_-729insGCTTGAGGCGGTGCTAC		POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding					600		chr15	TogoVar
POLR3C_chr1_145819200_145849402	145821457	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00597.hp1 others(20): Show HG00140.hp1 HG00323.hp1 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00738.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG02015.hp2 HG02071.hp2 HG02129.hp2 HG02293.hp1 HG03492.hp1 HG04199.hp1 NA18951.hp2 NA18961.hp1 NA19005.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0022 a0001c0001t0025	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0044 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0044 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0134 a0001c0001t0005g0002 a0001c0001t0009g0002 a0001c0001t0022g0002 a0001c0001t0025g0131	23	368	0.0625	17	c.-29 others(28): Show c.-2933_-2932insTTTTTTTTTTTTTTTTT		POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding					2742		chr1	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	358	0.0028	17	c.36+ others(30): Show c.36+637_36+653dupTTTTTTTTTTTTTTTTT		POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
POLR3GL_chr1_145959690_145983848	145971989	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	372	0.0027	17	c.-41 others(34): Show c.-41-2835_-41-2834insATATATATATATATATA		POLR3GL	ENSG00000121851.13	transcript	ENST00000369314.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
POLR3G_chr5_90469864_90519557	90478569	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02257.hp1 HG03098.hp2 others(3): Show HG01928.hp1 HG02257.hp1 HG03098.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011	a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0006g0237 others(3): Show a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0006g0237 a0001c0001t0008g0192 a0001c0001t0008g0214 a0001c0001t0011g0149	6	366	0.0164	17	c.-44 others(34): Show c.-44+3550_-44+3566dupTTTTTTTTTTTTTTTTT		POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3G_chr5_90469864_90519557	90487378	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02055.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0192 a0001c0001t0008g0213 a0001c0001t0008g0192 a0001c0001t0008g0213	2	366	0.0055	17	c.118 others(32): Show c.118-609_118-593dupTTTTTTTTTTTTTTTTT		POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3K_chr16_41407_58608	44341	A A	ACACACAC others(10): Show ACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	432	0.0023	17	c.30 others(28): Show c.3088_*3089insGTGTGTGTGTGTGTGTG		POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding					2065		chr16	TogoVar
POM121C_chr7_75411786_75491299	75464856	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01258.hp2 HG02280.hp2 others(2): Show HG00735.hp1 HG01258.hp2 HG02280.hp2 HG02970.hp2 HG03098.hp1	a0003 a0007 a0019 a0003 a0007 a0019	a0003c0046 a0007c0009 a0019c0023 a0003c0046 a0007c0009 a0019c0023	a0003c0046t0021 a0007c0009t0005 a0019c0023t0016 a0003c0046t0021 a0007c0009t0005 a0019c0023t0016	a0003c0046t0021g0269 a0007c0009t0005g0097 a0007c0009t0005g0099 others(2): Show a0003c0046t0021g0269 a0007c0009t0005g0097 a0007c0009t0005g0099 a0019c0023t0016g0139 a0019c0023t0016g0141	5	308	0.0162	17	c.-15 others(36): Show c.-152+9831_-152+9847dupTTTTTTTTTTTTTTTTT		POM121C	ENSG00000272391.6	transcript	ENST00000615331.5	protein_coding	3/14						chr7	TogoVar
POMT1_chr9_131497918_131528799	131515807	C C	CGGAGCAC others(10): Show CGGAGCACTTCCTCACAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	334	0.0030	17	c.127 others(34): Show c.1272+298_1272+299insACAGGGAGCACTTCCTC		POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516249	T T	TTCCTCAC others(10): Show TTCCTCACACGGAACACC	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19030.hp2 HG01891.hp2 NA19030.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0013 a0001c0010t0014 a0001c0010t0013 a0001c0010t0014	a0001c0010t0013g0057 a0001c0010t0014g0056 a0001c0010t0013g0057 a0001c0010t0014g0056	2	334	0.0060	17	c.127 others(34): Show c.1272+743_1272+744insCTCCTCACACGGAACAC		POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
PON1_chr7_95292676_95329532	95302096	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp2 NA18941.hp2 others(5): Show HG02027.hp1 HG02080.hp2 NA18941.hp2 NA18950.hp2 NA18959.hp2 NA18967.hp1 NA18991.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0026 a0001c0001t0002g0162 a0001c0001t0002g0163 others(4): Show a0001c0001t0002g0026 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0022g0211	8	434	0.0184	17	c.909 others(31): Show c.909+92_909+108dupTTTTTTTTTTTTTTTTT		PON1	ENSG00000005421.9	transcript	ENST00000222381.8	protein_coding	8/8						chr7	TogoVar
POPDC2_chr3_119637056_119665589	119640962	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00544.hp2 others(11): Show HG00099.hp1 HG00408.hp1 HG00544.hp2 HG02040.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp1 NA18970.hp2 NA18974.hp1 NA18989.hp1 NA19004.hp2 NA19058.hp2 NA19070.hp1 NA19077.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0007 a0002c0002 a0004c0007	a0002c0002t0002 a0004c0007t0002 a0002c0002t0002 a0004c0007t0002	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0016 others(3): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0060 a0004c0007t0002g0055	14	410	0.0342	17	c.16 others(28): Show c.1626_*1642dupTTTTTTTTTTTTTTTTT		POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding					1093		chr3	TogoVar
POSTN_chr13_37557585_37603768	37567235	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02717.hp1 HG03654.hp2 others(3): Show HG02698.hp2 HG02717.hp1 HG03654.hp2 HG03927.hp2 HG04204.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0004t0001	a0001c0001t0001g0187 a0001c0001t0002g0322 a0001c0001t0002g0323 others(3): Show a0001c0001t0001g0187 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0003g0274 a0001c0001t0003g0277 a0003c0004t0001g0093	6	416	0.0144	17	c.243 others(36): Show c.2431+2048_2431+2064dupTTTTTTTTTTTTTTTTT		POSTN	ENSG00000133110.15	transcript	ENST00000379747.9	protein_coding	21/22						chr13	TogoVar
POT1_chr7_124817386_124934825	124817689	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	346	0.0029	17	c.62 others(28): Show c.6272_*6273insAAAAAAAAAAAAAAAAA		POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding					4696		chr7	TogoVar
POTEB_chr15_21841329_21882735	21845584	A A	AGGGCAGT others(10): Show AGGGCAGTTCCACTGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	64	0.0156	17	c.76 others(26): Show c.763_*764insCTGCAGTGGAACTGCCC		POTEB	ENSG00000233917.9	transcript	ENST00000439682.2	protein_coding					744		chr15	TogoVar
POTEB_chr15_21841329_21882735	21878893	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0034 a0002c0002t0003g0034	1	64	0.0156	17	c.-16 others(28): Show c.-1648_-1647insTTTTTTTTTTTTTTTTT		POTEB	ENSG00000233917.9	transcript	ENST00000439682.2	protein_coding					1159		chr15	TogoVar
POTEC_chr18_14502339_14548600	14537210	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0167 a0002c0002t0002g0167	1	388	0.0026	17	c.810 others(32): Show c.810+590_810+591insTGTGTGTGTGTGTGTGT		POTEC	ENSG00000183206.18	transcript	ENST00000358970.10	protein_coding	3/10						chr18	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18998.hp1 NA19030.hp2 others(1): Show NA18944.hp2 NA18998.hp1 NA19030.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0027 a0001c0001t0006 a0001c0003t0027	a0001c0001t0006g0014 a0001c0001t0006g0236 a0001c0003t0027g0056 a0001c0001t0006g0014 a0001c0001t0006g0236 a0001c0003t0027g0056	4	416	0.0096	17	c.47 others(28): Show c.4721_*4722insAAAAAAAAAAAACACAC		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					465		chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(10): Show AAAAAAAAAAACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0011 a0006c0008t0011	a0006c0008t0011g0010 a0006c0008t0011g0010	1	416	0.0024	17	c.47 others(28): Show c.4721_*4722insAAAAAAAAAACACACAC		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					465		chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	ACAAAAAA others(10): Show ACAAAAAAAAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0040 a0006c0008t0040	a0006c0008t0040g0231 a0006c0008t0040g0231	1	416	0.0024	17	c.47 others(28): Show c.4721_*4722insCAAAAAAAAAAACACAC		POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding					465		chr21	TogoVar
POTEE_chr2_131204536_131270278	131211540	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0025 a0025	a0025c0038 a0025c0038	a0025c0038t0004 a0025c0038t0004	a0025c0038t0004g0277 a0025c0038t0004g0277	1	288	0.0035	17	c.-18 others(34): Show c.-189+357_-189+358insTGTGTGTGTGTGTGTGT		POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	2/17						chr2	TogoVar
POTEE_chr2_131204536_131270278	131211545	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0016 a0016	a0016c0056 a0016c0056	a0016c0056t0027 a0016c0056t0027	a0016c0056t0027g0055 a0016c0056t0027g0055	1	288	0.0035	17	c.-18 others(34): Show c.-189+362_-189+363insGTGTGTGTGTGTGTGGC		POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	2/17						chr2	TogoVar
POTEE_chr2_131204536_131270278	131255565	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0020 a0020	a0020c0060 a0020c0060	a0020c0060t0028 a0020c0060t0028	a0020c0060t0028g0255 a0020c0060t0028g0255	1	288	0.0035	17	c.177 others(36): Show c.1778+2472_1778+2488dupTTTTTTTTTTTTTTTTT		POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
POTEE_chr2_131204536_131270278	131257828	C C	CCTCATCC others(10): Show CCTCATCCTCACAAAGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18963.hp2 HG02145.hp2 NA18963.hp2	a0039 a0041 a0039 a0041	a0039c0024 a0041c0047 a0039c0024 a0041c0047	a0039c0024t0008 a0041c0047t0002 a0039c0024t0008 a0041c0047t0002	a0039c0024t0008g0103 a0041c0047t0002g0056 a0039c0024t0008g0103 a0041c0047t0002g0056	2	288	0.0069	17	c.177 others(36): Show c.1779-3896_1779-3895insCATCCTCACAAAGTGCT		POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
POU2AF2_chr11_111240725_111291401	111276439	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	380	0.0026	17	c.121 others(34): Show c.121-4944_121-4943insAAAAAAAAAAAAAAAAA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	380	0.0026	17	c.121 others(34): Show c.121-4944_121-4943insAAAAAAAAAAAAAAATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0370 a0002c0002t0001g0370	1	380	0.0026	17	c.121 others(34): Show c.121-4944_121-4943insAAAAAAAAAAAAATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19057.hp2 NA19072.hp1 HG02886.hp2 NA19057.hp2 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0271 a0001c0001t0002g0287 a0002c0002t0001g0078 a0001c0001t0002g0271 a0001c0001t0002g0287 a0002c0002t0001g0078	3	380	0.0079	17	c.121 others(34): Show c.121-4944_121-4943insAAAAAAAAATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	380	0.0026	17	c.121 others(34): Show c.121-4944_121-4943insAAAAAAATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	380	0.0026	17	c.121 others(34): Show c.121-4944_121-4943insAAAAATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	380	0.0026	17	c.121 others(34): Show c.121-4944_121-4943insAAATATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19076.hp1 NA19090.hp2 NA18998.hp1 NA19076.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0002g0105 a0001c0001t0002g0116 a0001c0001t0001g0037 a0001c0001t0002g0105 a0001c0001t0002g0116	3	380	0.0079	17	c.121 others(34): Show c.121-1340_121-1339insAAATATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG02132.hp2 others(4): Show HG00438.hp2 HG00609.hp1 HG02132.hp2 HG02738.hp1 HG03654.hp1 HG04115.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0063	7	380	0.0184	17	c.121 others(34): Show c.121-1340_121-1339insATATATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	380	0.0026	17	c.121 others(34): Show c.121-1341_121-1340insTATATATATATATATAT		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4						chr11	TogoVar
POU2F1_chr1_167215886_167432340	167358716	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0096 a0001c0001t0010g0096	1	292	0.0034	17	c.128 others(34): Show c.128-6746_128-6730dupTTTTTTTTTTTTTTTTT		POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
POU2F3_chr11_120235140_120324945	120261160	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	320	0.0031	17	c.98- others(32): Show c.98-8050_98-8049insGTGTGTGTGTGTGTGTG		POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12						chr11	TogoVar
POU6F2_chr7_38972909_39473601	39001778	G G	GTGATGGT others(10): Show GTGATGGTGATGTAATGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	170	0.0059	17	c.105 others(36): Show c.105+23732_105+23748dupTAATGATGATGGTGATG		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39005515	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0083 a0001c0007t0003g0083	1	170	0.0059	17	c.105 others(36): Show c.105+27457_105+27458insGTGTGTGTGTGTGTGTG		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9						chr7	TogoVar
POU6F2_chr7_38972909_39473601	39015861	A A	AATATATT others(10): Show AATATATTATATATAGAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00621.hp1 others(54): Show HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02735.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03516.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp2 NA18945.hp2 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18964.hp1 NA18966.hp2 NA18983.hp2 NA18984.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19080.hp1 NA19087.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0002c0004 a0002c0006 a0002c0008 a0003c0012 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0011 a0001c0005t0029 a0001c0007t0003 a0001c0007t0028 a0002c0003t0001 a0002c0003t0010 a0002c0003t0027 a0002c0004t0002 a0002c0004t0003 a0002c0006t0001 a0002c0008t0001 a0002c0008t0006 a0003c0012t0020 a0005c0010t0022	a0001c0001t0001g0165 a0001c0001t0002g0015 a0001c0001t0002g0018 others(54): Show a0001c0001t0001g0165 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0066 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0136 a0001c0001t0002g0161 a0001c0001t0002g0168 a0001c0001t0003g0096 a0001c0001t0003g0107 a0001c0001t0004g0049 a0001c0001t0005g0122 a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0002t0001g0012 a0001c0002t0001g0050 a0001c0002t0001g0102 a0001c0002t0001g0111 a0001c0002t0001g0170 a0001c0002t0002g0105 a0001c0005t0001g0061 a0001c0005t0011g0060 a0001c0005t0029g0098 a0001c0007t0003g0083 a0001c0007t0028g0114 a0002c0003t0001g0112 a0002c0003t0001g0116 a0002c0003t0001g0133 a0002c0003t0010g0110 a0002c0003t0027g0169 a0002c0004t0002g0011 a0002c0004t0002g0022 a0002c0004t0002g0101 a0002c0004t0002g0108 a0002c0004t0002g0113 a0002c0004t0002g0153 a0002c0004t0003g0009 a0002c0004t0003g0075 a0002c0006t0001g0010 a0002c0006t0001g0013 a0002c0006t0001g0014 a0002c0006t0001g0019 a0002c0006t0001g0086 a0002c0006t0001g0100 a0002c0008t0001g0109 a0002c0008t0006g0137 a0002c0008t0006g0152 a0003c0012t0020g0021 a0005c0010t0022g0167	57	170	0.3353	17	c.105 others(36): Show c.105+37817_105+37833dupAGATATATATTATATAT		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39015892	T T	TATATATA others(10): Show TATATATAGATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp2 HG02647.hp2 others(1): Show HG00735.hp2 HG01255.hp2 HG02647.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0121 a0001c0001t0002g0139 a0001c0001t0007g0041 others(1): Show a0001c0001t0002g0121 a0001c0001t0002g0139 a0001c0001t0007g0041 a0001c0001t0007g0042	4	170	0.0235	17	c.105 others(36): Show c.105+37850_105+37851insAATATATAGATATATAT		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr7	TogoVar

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