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
PHYH_chr10_13272799_13305064	13304524	T T	TTAAATAA others(25): Show TTAAATAAATAAATAAATAAATAAATAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	438	0.0023	32	c.-44 others(43): Show c.-4483_-4482insTTTATTTATTTATTTATTTATTTATTTATTTA	PHYH	ENSG00000107537.14	transcript	ENST00000263038.9	protein_coding		4461		chr10	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA19240.hp1 NA18944.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0015 a0001c0001t0001 a0001c0003t0015	a0001c0001t0001g0207 a0001c0003t0015g0108 a0001c0001t0001g0207 a0001c0003t0015g0108	2	350	0.0057	32	c.51 others(43): Show c.5138_*5139insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PIAS1_chr15_68049315_68198847	68088176	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	260	0.0039	32	c.469 others(49): Show c.469+1427_469+1428insGTATATATATATATATATATATATATAT ATAT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18989.hp1 NA19012.hp2 NA18989.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0081 a0001c0001t0029g0315 a0001c0001t0029g0081 a0001c0001t0029g0315	2	322	0.0062	32	c.50 others(43): Show c.5049_*5050insAATATATATATATATATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0001 a0001c0001t0026g0001	2	322	0.0062	32	c.50 others(43): Show c.5049_*5050insAAAATATATATATATATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01358.hp1 HG02015.hp1 others(1): Show HG01243.hp1 HG01358.hp1 HG02015.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0125 a0001c0001t0185 a0001c0001t0226 others(1): Show a0001c0001t0125 a0001c0001t0185 a0001c0001t0226 a0001c0003t0217	a0001c0001t0125g0252 a0001c0001t0185g0059 a0001c0001t0226g0043 others(1): Show a0001c0001t0125g0252 a0001c0001t0185g0059 a0001c0001t0226g0043 a0001c0003t0217g0116	4	322	0.0124	32	c.50 others(43): Show c.5049_*5050insAAAAAATATATATATATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0216 a0001c0003t0216	a0001c0003t0216g0117 a0001c0003t0216g0117	1	322	0.0031	32	c.50 others(43): Show c.5049_*5050insAAAAAAAATATATATATATATATATATATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS4_chr19_4002736_4044386	4011772	G G	GTGTTTGG others(25): Show GTGTTTGGTGTGGAGGTGTGTTTGGTGTGGAGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp2 HG02572.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0297 a0001c0002t0004g0298 a0001c0002t0004g0297 a0001c0002t0004g0298	2	334	0.0060	32	c.28- others(47): Show c.28-1148_28-1147insTTGGTGTGGAGGTGTGTTTGGTGTGGAGCT GT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011826	T T	TTTGGTGT others(25): Show TTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02647.hp2 NA18970.hp2 HG01975.hp2 HG02647.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0146 a0001c0001t0001g0177 a0001c0002t0004g0178 a0001c0001t0001g0146 a0001c0001t0001g0177 a0001c0002t0004g0178	3	334	0.0090	32	c.28- others(47): Show c.28-1097_28-1096insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10			chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011922	T T	TGTGTGGG others(25): Show TGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02258.hp1 HG01433.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0015 a0001c0003t0001 a0001c0003t0015	a0001c0003t0001g0218 a0001c0003t0015g0216 a0001c0003t0001g0218 a0001c0003t0015g0216	2	334	0.0060	32	c.28- others(45): Show c.28-980_28-979insTTGGTGTGGAGGTGTGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011990	T T	TGTGTGGG others(25): Show TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02886.hp1 NA18612.hp2 HG00609.hp1 HG02886.hp1 NA18612.hp2	a0001 a0001	a0001c0005 a0001c0012 a0001c0005 a0001c0012	a0001c0005t0005 a0001c0005t0023 a0001c0012t0005 a0001c0005t0005 a0001c0005t0023 a0001c0012t0005	a0001c0005t0005g0234 a0001c0005t0023g0243 a0001c0012t0005g0233 a0001c0005t0005g0234 a0001c0005t0023g0243 a0001c0012t0005g0233	3	334	0.0090	32	c.28- others(45): Show c.28-927_28-896dupGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIBF1_chr13_72777133_73021461	72902006	A A	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	346	0.0029	32	c.148 others(51): Show c.1489-6508_1489-6507insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03710.hp2 HG04115.hp2 others(2): Show HG01167.hp1 HG03710.hp2 HG04115.hp2 NA18954.hp2 NA19085.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0007c0010t0001 a0001c0001t0001 a0001c0001t0002 a0007c0010t0001	a0001c0001t0001g0204 a0001c0001t0001g0252 a0001c0001t0001g0287 others(2): Show a0001c0001t0001g0204 a0001c0001t0001g0252 a0001c0001t0001g0287 a0001c0001t0002g0092 a0007c0010t0001g0311	5	346	0.0145	32	c.148 others(51): Show c.1489-4073_1489-4072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72927948	T T	TATATATA others(25): Show TATATATATATATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	346	0.0029	32	c.173 others(51): Show c.1731-3206_1731-3205insTATATACATATATATATATACATATA TATATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72928006	C C	CACATATA others(25): Show CACATATATATATACACACATATATATACACAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	346	0.0029	32	c.173 others(51): Show c.1731-3158_1731-3157insCATATATATATACACACATATATATA CACATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72931717	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0029 a0002c0002t0003g0029	1	346	0.0029	32	c.183 others(49): Show c.1833+450_1833+451insATATATATATATATATATATATATATAT ATAT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	14/17			chr13	TogoVar
PIBF1_chr13_72777133_73021461	72931718	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19057.hp1 HG00597.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0051 a0002c0002t0003g0056 a0002c0002t0003g0051 a0002c0002t0003g0056	2	346	0.0058	32	c.183 others(49): Show c.1833+476_1833+477insATATATATATATATATATATATATATAT ATAT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PID1_chr2_229018973_229276287	229139039	G G	GAAAGAGA others(25): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	256	0.0039	32	c.177 others(51): Show c.177+16778_177+16779insTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTTT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229139057	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	256	0.0039	32	c.177 others(51): Show c.177+16760_177+16761insTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229139115	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	256	0.0039	32	c.177 others(51): Show c.177+16702_177+16703insTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229145155	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	256	0.0039	32	c.177 others(51): Show c.177+10662_177+10663insTATATATATATATATGTATATACACA CACACA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PIEZO1_chr16_88710338_88790220	88733456	T T	TGAGGGCA others(25): Show TGAGGGCAGTGGGCACGTGGGGCTGGGCTTGGG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG02486.hp1	a0082 a0082	a0082c0113 a0082c0113	a0082c0113t0001 a0082c0113t0001	a0082c0113t0001g0223 a0082c0113t0001g0223	1	282	0.0036	32	c.248 others(46): Show c.2488-34_2488-3dupCCCAAGCCCAGCCCCACGTGCCCACTGCCCT C	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	18/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88789459	A A	AGATATGA others(25): Show AGATATGAGAGCTGTGCTGATGGGACCTACTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	282	0.0036	32	c.-44 others(43): Show c.-4496_-4495insGTAGTAGGTCCCATCAGCACAGCTCTCATATC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		4240		chr16	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(25): Show CACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 NA19043.hp2 HG02976.hp2 HG03130.hp1 NA19043.hp2	a0002 a0004 a0002 a0004	a0002c0018 a0002c0076 a0004c0075 a0002c0018 a0002c0076 a0004c0075	a0002c0018t0001 a0002c0076t0002 a0004c0075t0002 a0002c0018t0001 a0002c0076t0002 a0004c0075t0002	a0002c0018t0001g0026 a0002c0076t0002g0111 a0004c0075t0002g0072 a0002c0018t0001g0026 a0002c0076t0002g0111 a0004c0075t0002g0072	3	158	0.0190	32	c.719 others(49): Show c.7191-400_7191-399insATATATATATATATATATATATATGTGT GTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACATA others(25): Show CACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0002 a0001c0047t0002	a0001c0047t0002g0144 a0001c0047t0002g0144	1	158	0.0063	32	c.719 others(49): Show c.7191-400_7191-399insATATATATATATATATATATATATATAT GTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720234	G G	GCGTATAT others(25): Show GCGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0002 a0001c0065t0002	a0001c0065t0002g0003 a0001c0065t0002g0003	1	158	0.0063	32	c.503 others(51): Show c.5030-1976_5030-1975insTATATATATATATATATATATATATA TATACG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720234	G G	GCGTGTAT others(25): Show GCGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02809.hp1 others(1): Show HG02280.hp1 HG02572.hp1 HG02809.hp1 HG03098.hp2	a0001 a0005 a0018 a0001 a0005 a0018	a0001c0006 a0005c0080 a0018c0030 a0001c0006 a0005c0080 a0018c0030	a0001c0006t0001 a0005c0080t0002 a0018c0030t0001 others(1): Show a0001c0006t0001 a0005c0080t0002 a0018c0030t0001 a0018c0030t0003	a0001c0006t0001g0115 a0005c0080t0002g0089 a0018c0030t0001g0079 others(1): Show a0001c0006t0001g0115 a0005c0080t0002g0089 a0018c0030t0001g0079 a0018c0030t0003g0025	4	158	0.0253	32	c.503 others(51): Show c.5030-1976_5030-1975insTATATATATATATATATATATATATA TACACG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720234	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0003 a0001c0059t0003	a0001c0059t0003g0110 a0001c0059t0003g0110	1	158	0.0063	32	c.503 others(51): Show c.5030-1976_5030-1975insTATATATATATATATATATATATATA CACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10756959	T T	TGGGAATG others(25): Show TGGGAATGAAGATGAGCTATGGAGATGAGAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00639.hp1 others(74): Show HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00741.hp2 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 NA18522.hp1 NA18942.hp2 NA18945.hp1 NA18970.hp2 NA18994.hp2 NA18998.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0006 a0008 a0011 a0017 a0018 a0020 a0022 a0023 a0024 a0025 a0026	a0001c0003 a0001c0006 a0001c0021 others(39): Show a0001c0003 a0001c0006 a0001c0021 a0001c0024 a0001c0039 a0001c0044 a0001c0047 a0001c0084 a0002c0001 a0002c0015 a0002c0018 a0002c0023 a0002c0038 a0002c0045 a0002c0055 a0002c0069 a0002c0071 a0002c0072 a0002c0074 a0002c0076 a0004c0005 a0004c0022 a0004c0049 a0004c0073 a0004c0075 a0006c0004 a0006c0077 a0008c0034 a0008c0054 a0008c0068 a0008c0070 a0011c0019 a0011c0060 a0017c0016 a0018c0030 a0020c0066 a0020c0067 a0022c0035 a0023c0048 a0024c0092 a0025c0053 a0026c0061	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(49): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0006t0001 a0001c0021t0002 a0001c0024t0001 a0001c0024t0007 a0001c0039t0001 a0001c0044t0002 a0001c0047t0002 a0001c0084t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0015t0002 a0002c0018t0001 a0002c0018t0002 a0002c0023t0001 a0002c0023t0002 a0002c0038t0001 a0002c0045t0001 a0002c0055t0002 a0002c0069t0001 a0002c0071t0002 a0002c0072t0001 a0002c0074t0001 a0002c0076t0002 a0004c0005t0001 a0004c0005t0002 a0004c0022t0002 a0004c0049t0002 a0004c0073t0002 a0004c0075t0002 a0006c0004t0001 a0006c0004t0003 a0006c0077t0006 a0008c0034t0002 a0008c0054t0001 a0008c0068t0001 a0008c0070t0002 a0011c0019t0001 a0011c0060t0003 a0017c0016t0003 a0018c0030t0001 a0018c0030t0003 a0020c0066t0002 a0020c0067t0001 a0022c0035t0001 a0023c0048t0001 a0024c0092t0002 a0025c0053t0002 a0026c0061t0008	a0001c0003t0001g0118 a0001c0003t0002g0029 a0001c0003t0002g0147 others(74): Show a0001c0003t0001g0118 a0001c0003t0002g0029 a0001c0003t0002g0147 a0001c0003t0003g0102 a0001c0006t0001g0115 a0001c0006t0001g0148 a0001c0021t0002g0093 a0001c0024t0001g0156 a0001c0024t0007g0002 a0001c0039t0001g0004 a0001c0044t0002g0073 a0001c0047t0002g0144 a0001c0084t0001g0074 a0002c0001t0001g0011 a0002c0001t0001g0038 a0002c0001t0001g0043 a0002c0001t0001g0055 a0002c0001t0001g0057 a0002c0001t0001g0063 a0002c0001t0001g0087 a0002c0001t0001g0117 a0002c0001t0001g0123 a0002c0001t0001g0135 a0002c0001t0001g0139 a0002c0001t0001g0158 a0002c0001t0002g0039 a0002c0001t0002g0040 a0002c0001t0002g0146 a0002c0001t0002g0151 a0002c0001t0005g0008 a0002c0001t0005g0094 a0002c0015t0002g0107 a0002c0015t0002g0145 a0002c0018t0001g0026 a0002c0018t0002g0068 a0002c0023t0001g0021 a0002c0023t0002g0103 a0002c0038t0001g0024 a0002c0045t0001g0071 a0002c0055t0002g0140 a0002c0069t0001g0136 a0002c0071t0002g0125 a0002c0072t0001g0044 a0002c0074t0001g0028 a0002c0076t0002g0111 a0004c0005t0001g0137 a0004c0005t0002g0006 a0004c0005t0002g0045 a0004c0005t0002g0080 a0004c0022t0002g0042 a0004c0022t0002g0085 a0004c0049t0002g0101 a0004c0073t0002g0062 a0004c0075t0002g0072 a0006c0004t0001g0120 a0006c0004t0001g0152 a0006c0004t0003g0084 a0006c0004t0003g0149 a0006c0077t0006g0001 a0008c0034t0002g0069 a0008c0054t0001g0077 a0008c0068t0001g0153 a0008c0070t0002g0127 a0011c0019t0001g0104 a0011c0019t0001g0105 a0011c0060t0003g0078 a0017c0016t0003g0015 a0017c0016t0003g0090 a0018c0030t0001g0079 a0018c0030t0003g0025 a0020c0066t0002g0119 a0020c0067t0001g0051 a0022c0035t0001g0014 a0023c0048t0001g0047 a0024c0092t0002g0046 a0025c0053t0002g0067 a0026c0061t0008g0109	77	158	0.4873	32	c.392 others(50): Show c.3923+978_3923+1009dupCCTTCTCATCTCCATAGCTCATCTTCA TTCCC	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	27/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10782287	A A	AATTATAA others(25): Show AATTATAATTATATATAAATAATTATATAATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG02976.hp2 others(1): Show HG02622.hp2 HG02922.hp2 HG02976.hp2 NA18522.hp2	a0002 a0014 a0025 a0002 a0014 a0025	a0002c0018 a0014c0057 a0025c0053 a0002c0018 a0014c0057 a0025c0053	a0002c0018t0001 a0002c0018t0002 a0014c0057t0002 others(1): Show a0002c0018t0001 a0002c0018t0002 a0014c0057t0002 a0025c0053t0002	a0002c0018t0001g0026 a0002c0018t0002g0068 a0014c0057t0002g0112 others(1): Show a0002c0018t0001g0026 a0002c0018t0002g0068 a0014c0057t0002g0112 a0025c0053t0002g0067	4	158	0.0253	32	c.249 others(51): Show c.2493-1953_2493-1922dupATATTATATAATTATTTATATATAAT TATAAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	17/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886319	C C	CATACATA others(25): Show CATACATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0076 a0009c0010t0001g0076	1	158	0.0063	32	c.330 others(51): Show c.330-14905_330-14904insATATATATATATATATATATATATGT ATGTAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886323	C C	CATACATA others(25): Show CATACATATATATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01496.hp1 HG02027.hp1 others(3): Show HG01169.hp1 HG01496.hp1 HG02027.hp1 HG02145.hp1 HG02630.hp1 HG03225.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0033 a0001c0087 a0002c0001 others(3): Show a0001c0033 a0001c0087 a0002c0001 a0002c0015 a0004c0005 a0009c0032	a0001c0033t0002 a0001c0087t0001 a0002c0001t0001 others(3): Show a0001c0033t0002 a0001c0087t0001 a0002c0001t0001 a0002c0015t0002 a0004c0005t0002 a0009c0032t0003	a0001c0033t0002g0035 a0001c0087t0001g0033 a0002c0001t0001g0011 others(3): Show a0001c0033t0002g0035 a0001c0087t0001g0033 a0002c0001t0001g0011 a0002c0015t0002g0107 a0004c0005t0002g0045 a0009c0032t0003g0086	6	158	0.0380	32	c.330 others(51): Show c.330-14909_330-14908insATGTATATATATATATATATATATAT ATGTAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886341	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0046 a0005c0046	a0005c0046t0001 a0005c0046t0001	a0005c0046t0001g0129 a0005c0046t0001g0129	1	158	0.0063	32	c.330 others(51): Show c.330-14927_330-14926insGTGTATATATATATATATATATATAT ATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886343	T T	TATATATA others(25): Show TATATATATACATATACATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0145 a0002c0015t0002g0145	1	158	0.0063	32	c.330 others(51): Show c.330-14929_330-14928insGTATATATATATATATGTATATGTAT ATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886343	T T	TATATATA others(25): Show TATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0143 a0001c0017t0004g0143	1	158	0.0063	32	c.330 others(51): Show c.330-14929_330-14928insGTGTGTGTGTGTATATATATATATAT ATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886343	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0087 a0002c0001t0001g0087	1	158	0.0063	32	c.330 others(51): Show c.330-14929_330-14928insGTGTGTATATATATATATATATATAT ATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886343	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0001 a0001c0058t0001	a0001c0058t0001g0150 a0001c0058t0001g0150	1	158	0.0063	32	c.330 others(51): Show c.330-14929_330-14928insGTGTATATATATATATATATATATAT ATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886372	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATACACACACATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	158	0.0063	32	c.330 others(51): Show c.330-14958_330-14957insTATATATGTGTGTGTATATATATATA CACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0020 a0020	a0020c0066 a0020c0066	a0020c0066t0002 a0020c0066t0002	a0020c0066t0002g0119 a0020c0066t0002g0119	1	158	0.0063	32	c.330 others(51): Show c.330-15073_330-15072insATATATATATATATATATATATATAT ATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(25): Show CATATATATATATATATGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02922.hp2 others(3): Show HG02451.hp2 HG02622.hp2 HG02922.hp2 HG03139.hp1 HG03516.hp1 NA19043.hp2	a0002 a0004 a0006 others(2): Show a0002 a0004 a0006 a0011 a0025	a0002c0018 a0004c0075 a0006c0004 others(2): Show a0002c0018 a0004c0075 a0006c0004 a0011c0019 a0025c0053	a0002c0018t0002 a0004c0075t0002 a0006c0004t0001 others(2): Show a0002c0018t0002 a0004c0075t0002 a0006c0004t0001 a0011c0019t0001 a0025c0053t0002	a0002c0018t0002g0068 a0004c0075t0002g0072 a0006c0004t0001g0152 others(3): Show a0002c0018t0002g0068 a0004c0075t0002g0072 a0006c0004t0001g0152 a0011c0019t0001g0104 a0011c0019t0001g0105 a0025c0053t0002g0067	6	158	0.0380	32	c.330 others(51): Show c.330-15073_330-15072insATATATATATATATACATATATATAT ATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(25): Show CATATATATATATATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01884.hp1 HG02056.hp1 others(8): Show HG00140.hp1 HG01884.hp1 HG02056.hp1 HG02273.hp2 HG02922.hp1 NA18942.hp1 NA18962.hp1 NA19005.hp1 NA19063.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0007 a0010 a0015 a0019 a0020	a0001c0007 a0001c0084 a0002c0074 others(7): Show a0001c0007 a0001c0084 a0002c0074 a0005c0013 a0007c0026 a0010c0014 a0010c0041 a0015c0085 a0019c0029 a0020c0067	a0001c0007t0001 a0001c0084t0001 a0002c0074t0001 others(7): Show a0001c0007t0001 a0001c0084t0001 a0002c0074t0001 a0005c0013t0002 a0007c0026t0001 a0010c0014t0002 a0010c0041t0002 a0015c0085t0001 a0019c0029t0002 a0020c0067t0001	a0001c0007t0001g0113 a0001c0084t0001g0074 a0002c0074t0001g0028 others(8): Show a0001c0007t0001g0113 a0001c0084t0001g0074 a0002c0074t0001g0028 a0005c0013t0002g0010 a0007c0026t0001g0065 a0010c0014t0002g0013 a0010c0014t0002g0124 a0010c0041t0002g0012 a0015c0085t0001g0064 a0019c0029t0002g0116 a0020c0067t0001g0051	11	158	0.0696	32	c.330 others(51): Show c.330-15073_330-15072insATATATATATATATATACATATATAT ATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(25): Show CATATATATATATATGTATGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0055 a0002c0001t0001g0055	1	158	0.0063	32	c.330 others(51): Show c.330-15073_330-15072insATATATATATATACATACATATATAT ATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(25): Show CATATATATATATATGTGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0131 a0003c0009t0002g0131	1	158	0.0063	32	c.330 others(51): Show c.330-15073_330-15072insATATATATATATATACACATATATAT ATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIF1_chr15_64810632_64830647	64826665	T T	TATATATA others(25): Show TATATATATATATATATATATATATACATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	348	0.0029	32	c.-11 others(43): Show c.-1117_-1116insGTATATGTATATATATATATATATATATATAT	PIF1	ENSG00000140451.13	transcript	ENST00000559239.2	protein_coding		1019		chr15	TogoVar
PIGL_chr17_16212210_16331411	16216786	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	246	0.0041	32	c.-44 others(41): Show c.-441_-440insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding		423		chr17	TogoVar
PIGL_chr17_16212210_16331411	16219580	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	246	0.0041	32	c.235 others(49): Show c.235+2124_235+2125insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGN_chr18_62036164_62192056	62125148	G G	GTATATAT others(25): Show GTATATATACATGTTTGTACATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0019 a0001c0003t0004g0019	1	342	0.0029	32	c.117 others(53): Show c.1173-10510_1173-10509insTATATACACATATGTACAAACATG TATATATA	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	14/30			chr18	TogoVar
PIGX_chr3_196707377_196741007	196735294	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0214 a0001c0001t0045g0214	1	416	0.0024	32	c.14 others(43): Show c.1422_*1423insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	6/6	1423	INFO_REALIGN_3_PRIME	chr3	TogoVar
PIGZ_chr3_196941356_196973833	196960737	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG02027.hp2 others(2): Show HG00408.hp1 HG00639.hp1 HG02027.hp2 NA18974.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0002 a0001c0001t0001 a0001c0004t0001 a0002c0002t0002	a0001c0001t0001g0073 a0001c0001t0001g0204 a0001c0001t0001g0271 others(2): Show a0001c0001t0001g0073 a0001c0001t0001g0204 a0001c0001t0001g0271 a0001c0004t0001g0205 a0002c0002t0002g0262	5	424	0.0118	32	c.-1+ others(47): Show c.-1+7949_-1+7950insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	1/2			chr3	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02896.hp2 HG02040.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0002 a0001c0001t0001g0034	2	384	0.0052	32	c.18 others(41): Show c.185_*186insATATATATATATATATATTTTTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar

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