JoGo: Joint Open Genome and Omics Platform

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
PRTG_chr15_55606544_55748152	55738071	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp1 HG00741.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0248 a0001c0001t0002g0240 a0001c0001t0002g0248	2	284	0.0070	30	c.397 others(47): Show c.397+2310_397+2311insATATATATATATATATATATATATATAT AT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	2/19			chr15	TogoVar
PRUNE2_chr9_76606376_76911114	76879903	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0136 a0002c0002t0002g0136	1	240	0.0042	30	c.37- others(47): Show c.37-25696_37-25695insAATATATATATATATATATATATATATA TA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76879903	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0127 a0001c0001t0031g0127	1	240	0.0042	30	c.37- others(47): Show c.37-25696_37-25695insAAAATATATATATATATATATATATATA TA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76879903	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0217 a0001c0001t0003g0192 a0001c0001t0003g0217	2	240	0.0083	30	c.37- others(47): Show c.37-25696_37-25695insAAAAAATATATATATATATATATATATA TA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PSAT1_chr9_78292125_78335093	78299144	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	416	0.0024	30	c.61- others(45): Show c.61-1430_61-1429insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD2_chr5_139790808_139849466	139817939	C C	CAGAGGGA others(23): Show CAGAGGGATAAAGAGACTTCCCCACAGTCAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	276	0.0036	30	c.109 others(47): Show c.1097+379_1097+408dupAGAGGGATAAAGAGACTTCCCCACAGTC AT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD3_chr8_18522303_19018703	18752566	T T	TATATATA others(23): Show TATATATATAATATATATAATTATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0062 a0009c0024t0062	a0009c0024t0062g0185 a0009c0024t0062g0185	1	228	0.0044	30	c.217 others(51): Show c.2172+12882_2172+12883insTATATATATAATTATATATATTAT ATATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18759092	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0071 a0002c0003t0071	a0002c0003t0071g0102 a0002c0003t0071g0102	1	228	0.0044	30	c.217 others(49): Show c.2172+6356_2172+6357insAGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18759092	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0015 a0001c0023t0015	a0001c0023t0015g0189 a0001c0023t0015g0189	1	228	0.0044	30	c.217 others(49): Show c.2172+6356_2172+6357insAGAGTGTGTGTGTGTGTGTGTGTGTG TGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18916349	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0081 a0001c0002t0018g0081	1	228	0.0044	30	c.130 others(49): Show c.130+19684_130+19685insGTGTATATATATATATATATATATAT ATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	2/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0161 a0001c0001t0026g0161	1	228	0.0044	30	c.22- others(47): Show c.22-13103_22-13102insATATATATATATATATATTTTTTTTTTT TT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSD4_chr2_113168971_113214391	113189351	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19030.hp2 HG02976.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0046 a0002c0004t0078 a0002c0004t0046 a0002c0004t0078	a0002c0004t0046g0116 a0002c0004t0078g0250 a0002c0004t0046g0116 a0002c0004t0078g0250	2	380	0.0053	30	c.162 others(49): Show c.1629-3013_1629-3012insTATATATATATATATATATATATATA TATA	PSD4	ENSG00000125637.16	transcript	ENST00000245796.11	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSEN1_chr14_73131507_73228691	73151878	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0272 a0001c0001t0006g0272	1	378	0.0027	30	c.87+ others(45): Show c.87+3789_87+3790insATATATATATATATATATATATATATATAT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	416	0.0024	30	c.430 others(47): Show c.430+2096_430+2097insAAAAAAAAAAAAAAAATATATATATATA TA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSIP1_chr9_15459066_15515970	15501840	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02897.hp1 others(2): Show HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0063 others(2): Show a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0006g0011 a0001c0001t0008g0023	5	300	0.0167	30	c.149 others(47): Show c.149+4720_149+4721insATATATATATATATATATATATATATAT AT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSIP1_chr9_15459066_15515970	15501866	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03669.hp1 HG04199.hp2 HG02523.hp1 HG03669.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0229 a0001c0001t0003g0261 a0001c0001t0010g0252 a0001c0001t0003g0229 a0001c0001t0003g0261 a0001c0001t0010g0252	3	300	0.0100	30	c.149 others(47): Show c.149+4694_149+4695insTTATATATATATATATATATATATATAT AT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSMA3_chr14_58239843_58277004	58254333	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19011.hp1 HG02027.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0090 a0001c0001t0001g0042 a0001c0001t0001g0090	2	332	0.0060	30	c.228 others(47): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT AT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20752.hp1 HG03225.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0196 a0001c0001t0001g0031 a0001c0001t0001g0196	2	332	0.0060	30	c.228 others(47): Show c.228+2101_228+2102insATATATATATATATATATATATATATGT AT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18941.hp2 NA18949.hp1 HG01070.hp2 NA18941.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0247 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0247	3	332	0.0090	30	c.228 others(47): Show c.228+2101_228+2102insATATATATATATATATATATATGTATGT AT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMB2_chr1_35594541_35646526	35640087	A A	ATACTATA others(23): Show ATACTATACTATACTATACTATACTGTACTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03540.hp1 HG04115.hp1 others(2): Show HG00438.hp2 HG03540.hp1 HG04115.hp1 NA19078.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018	a0001c0001t0008g0256 a0001c0001t0008g0258 a0001c0001t0008g0259 others(2): Show a0001c0001t0008g0256 a0001c0001t0008g0258 a0001c0001t0008g0259 a0001c0001t0014g0255 a0001c0001t0018g0257	5	300	0.0167	30	c.91+ others(45): Show c.91+1254_91+1255insCAGTACAGTATAGTATAGTATAGTATAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMD12_chr17_67332916_67371577	67334603	C C	CAAAAAAA others(23): Show CAAAAAAAAAAACAAAAAAACAAAAAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0346 a0001c0002t0004g0346	1	398	0.0025	30	c.62 others(41): Show c.6239_*6240insTGTTTTTTTTGTTTTTTTGTTTTTTTTTTT	PSMD12	ENSG00000197170.10	transcript	ENST00000356126.8	protein_coding		3312		chr17	TogoVar
PSMD14_chr2_161303425_161416717	161327946	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	268	0.0037	30	c.48+ others(45): Show c.48+9082_48+9111dupTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02145.hp1 HG03453.hp1 others(5): Show HG00140.hp2 HG02145.hp1 HG03453.hp1 HG03579.hp1 NA18943.hp1 NA18954.hp2 NA18979.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0195 a0001c0001t0001g0199 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0240 a0001c0001t0001g0255	8	268	0.0299	30	c.49- others(47): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(23): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18959.hp2 homoSapiens_chm13v2.hp1 HG01891.hp1 NA18959.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0125 a0001c0001t0002g0055 a0001c0001t0002g0073 a0001c0001t0001g0125 a0001c0001t0002g0055 a0001c0001t0002g0073	3	268	0.0112	30	c.571 others(47): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	268	0.0037	30	c.571 others(47): Show c.571-1192_571-1191insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD4_chr1_151249734_151272479	151251260	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	420	0.0024	30	c.-35 others(41): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSMD8_chr19_38369571_38388824	38380723	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGCGCGCGCGTGCGCGC	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	424	0.0024	30	c.703 others(45): Show c.703-169_703-168insTGTGTGTGCGCGCGCGTGCGCGCGTGTGTG	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSMD8_chr19_38369571_38388824	38385765	A A	AGCCGGGG others(23): Show AGCCGGGGATGGGGCCGGGGCCGGGGCCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03098.hp2 HG01891.hp2 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0028 a0002c0005t0001g0028	2	424	0.0047	30	c.23 others(41): Show c.2375_*2376insGCCGGGGATGGGGCCGGGGCCGGGGCCGGG	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding		1942		chr19	TogoVar
PSME4_chr2_53859069_53975993	53861889	A A	AATAAAAA others(23): Show AATAAAAAGCTCCCTCATCTAGGCATCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0249 a0003c0004t0001g0249	1	384	0.0026	30	c.36 others(41): Show c.3688_*3689insGAGAGATGCCTAGATGAGGGAGCTTTTTAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding		2179		chr2	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18940.hp1 HG00621.hp1 NA18940.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0007 a0001c0005t0001 a0001c0005t0007	a0001c0005t0001g0351 a0001c0005t0007g0331 a0001c0005t0001g0351 a0001c0005t0007g0331	2	384	0.0052	30	c.481 others(47): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0032 a0004c0005t0032	a0004c0005t0032g0191 a0004c0005t0032g0191	1	326	0.0031	30	c.366 others(47): Show c.366-1551_366-1550insATATATATATATATATATATATATATAT TT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG03225.hp1 HG00280.hp2 HG00738.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0053 a0001c0001t0031g0042 a0001c0001t0031g0054 a0001c0001t0001g0053 a0001c0001t0031g0042 a0001c0001t0031g0054	3	326	0.0092	30	c.366 others(47): Show c.366-1551_366-1550insATATATATATATATATATATATTTTTTT TT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	412	0.0024	30	c.174 others(47): Show c.174+1096_174+1097insATATATATATATATATATATTTTTTTTT TT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18980.hp2 NA19085.hp1 HG03239.hp2 NA18980.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0124 a0001c0001t0001g0045 a0001c0001t0001g0124	3	412	0.0073	30	c.174 others(47): Show c.174+1096_174+1097insATATATATATATATATATTTTTTTTTTT TT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSTK_chr10_122975401_122995390	122980723	C C	CGCGGGGC others(23): Show CGCGGGGCGGGGCGGGGCGGGGCGGGGCGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01978.hp1 HG02615.hp2 others(6): Show HG01243.hp1 HG01978.hp1 HG02615.hp2 HG02630.hp1 HG02970.hp1 NA18954.hp1 NA18954.hp2 NA18967.hp1 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0141 a0002c0002t0001g0055 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0141 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0140 a0003c0003t0001g0056	9	416	0.0216	30	c.216 others(43): Show c.216+35_216+64dupCGGGGCGGGGCGGGGCGGGGCGGGGCGGGG	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTBP1_chr19_792452_817312	814169	A A	ACCCTGGG others(23): Show ACCCTGGGCACCCGTGCCTCCCCCCTAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02647.hp2 HG02922.hp2 others(4): Show HG01106.hp2 HG02647.hp2 HG02922.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0089 a0001c0001t0001g0101 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0003t0001g0129	7	388	0.0180	30	c.33 others(41): Show c.3343_*3344insCCCTGGGCACCCGTGCCTCCCCCCTAGAGC	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding		1858		chr19	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG02148.hp2 others(5): Show HG00558.hp1 HG00597.hp2 HG02148.hp2 HG02717.hp1 HG03209.hp1 NA18906.hp1 NA19083.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0261 a0001c0002t0001g0264 a0001c0002t0001g0272 others(5): Show a0001c0002t0001g0261 a0001c0002t0001g0264 a0001c0002t0001g0272 a0001c0002t0001g0281 a0001c0002t0001g0300 a0001c0002t0001g0333 a0001c0002t0001g0341 a0001c0002t0008g0288	8	364	0.0220	30	c.905 others(47): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02083.hp2 HG04204.hp2 others(1): Show HG01975.hp1 HG02083.hp2 HG04204.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0172 a0001c0001t0002g0173 others(1): Show a0001c0001t0002g0131 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0275	4	342	0.0117	30	c.802 others(47): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0147 a0001c0005t0001g0147	1	370	0.0027	30	c.813 others(45): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTCHD1_chrX_23329849_23409374	23334765	T T	TCGCCGCC others(23): Show TCGCCGCCGCCGCGGGCGCCGCTGCCGCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0165 a0001c0001t0165	a0001c0001t0165g0107 a0001c0001t0165g0107	1	297	0.0034	30	c.-11 others(39): Show c.-111_-110insCGCCGCCGCCGCGGGCGCCGCTGCCGCCGC	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding		83		chrX	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GAGATATA others(23): Show GAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG01169.hp1 others(12): Show HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01261.hp2 HG02109.hp1 HG02257.hp1 HG02698.hp2 HG02738.hp1 HG03225.hp1 HG03453.hp1 HG04115.hp2 NA18982.hp1 NA18984.hp2 NA18987.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0001t0040 a0001c0001t0042 a0001c0001t0055 a0001c0001t0084 a0001c0001t0106 a0001c0001t0112 a0001c0001t0123	a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0001t0001g0047 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0004g0070 a0001c0001t0004g0138 a0001c0001t0010g0022 a0001c0001t0015g0029 a0001c0001t0015g0151 a0001c0001t0040g0002 a0001c0001t0042g0025 a0001c0001t0055g0017 a0001c0001t0084g0067 a0001c0001t0106g0078 a0001c0001t0112g0148 a0001c0001t0123g0156	15	182	0.0824	30	c.899 others(47): Show c.899-2806_899-2805insATATATATATATATATATATATATATAT CT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	182	0.0055	30	c.899 others(47): Show c.899-2806_899-2805insATATATATATATATATATATATATATAT AT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTCHD4_chr6_47851673_48116197	48098318	T T	TTTCTTCT others(23): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG04115.hp1 HG01257.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0052 a0001c0002t0003 a0001c0002t0052	a0001c0002t0003g0106 a0001c0002t0052g0018 a0001c0002t0003g0106 a0001c0002t0052g0018	2	182	0.0110	30	c.-97 others(51): Show c.-970+12730_-970+12731insGAAGAAGAAGAAGAAGAAGAAGAA GAAGAA	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	1/4			chr6	TogoVar
PTCRA_chr6_42911053_42930838	42916244	A A	AGGGACCT others(23): Show AGGGACCTCTGGGGAGGGTCCCTCTGGGGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02717.hp1 others(1): Show HG02109.hp1 HG02280.hp2 HG02717.hp1 HG02809.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0039 a0004c0004t0001g0130 a0004c0004t0001g0131 a0001c0001t0001g0039 a0004c0004t0001g0130 a0004c0004t0001g0131	4	412	0.0097	30	c.58+ others(43): Show c.58+135_58+164dupTCCCTCTGGGGAGGGGACCTCTGGGGAGGG	PTCRA	ENSG00000171611.10	transcript	ENST00000304672.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTGES3_chr12_56658349_56693284	56676139	G G	GGGAGGTG others(23): Show GGGAGGTGGAGGTGGAGGTGGAGGTGGAGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02622.hp1 others(1): Show HG01891.hp1 HG01891.hp2 HG02622.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0247 others(1): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0247 a0001c0001t0001g0265	4	372	0.0108	30	c.3-3 others(43): Show c.3-3075_3-3074insACCTCCACCTCCACCTCCACCTCCACCTCC	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGR2_chr14_73846831_73890726	73876483	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	420	0.0024	30	c.349 others(45): Show c.349-499_349-498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTH2R_chr2_208401792_208499506	208408722	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp2 HG02647.hp1 others(4): Show HG01496.hp2 HG01884.hp2 HG02647.hp1 HG02886.hp2 HG02965.hp2 HG03471.hp1 HG03491.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0003 a0001c0003t0003 a0002c0004t0004 a0001c0001t0003 a0001c0003t0003 a0002c0004t0004	a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 others(4): Show a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0003t0003g0168 a0001c0003t0003g0169 a0002c0004t0004g0271	7	294	0.0238	30	c.75+ others(45): Show c.75+1621_75+1622insGAGAAAGAGAGAGAGAGAGAGAGAGAGAGA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19030.hp1 HG01074.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0305 a0001c0001t0003g0025 a0001c0001t0003g0305	2	328	0.0061	30	c.-38 others(49): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAAAAATA TATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0230 a0001c0010t0003g0230	1	328	0.0031	30	c.-38 others(49): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAAATATA TATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0030 a0001c0012t0004g0030	1	328	0.0031	30	c.-38 others(49): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAATATATA TATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar

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