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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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
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	364	0.0028	31	c.75+ others(46): Show c.75+4515_75+4516insATATATATATATATATATATATATATATTT T		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18983.hp1 HG03139.hp2 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0097 a0001c0002t0002g0041 a0001c0002t0002g0097	2	364	0.0055	31	c.75+ others(46): Show c.75+4515_75+4516insATATATATATATATATATATATATATTTTT T		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496215	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	364	0.0028	31	c.75+ others(46): Show c.75+4515_75+4516insATATATATATATATATATATATATATATAT A		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9						chr12	TogoVar
PRODH_chr22_18907781_18941293	18933816	G G	GAGGGGGG others(24): Show GAGGGGGGGGGGGGGGGGGGGGGGGGAGGTTA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0027 a0027	a0027c0036 a0027c0036	a0027c0036t0001 a0027c0036t0001	a0027c0036t0001g0194 a0027c0036t0001g0194	1	409	0.0024	31	c.273 others(48): Show c.273+2198_273+2199insTAACCTCCCCCCCCCCCCCCCCCCCCCC CCT		PRODH	ENSG00000100033.17	transcript	ENST00000357068.11	protein_coding	1/13						chr22	TogoVar
PROSER2_chr10_11818356_11877277	11818566	A A	AGAATCGC others(24): Show AGAATCGCTTGAACCTGGGAGGCTGAGGTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	348	0.0029	31	c.-49 others(42): Show c.-4986_-4985insGAATCGCTTGAACCTGGGAGGCTGAGGTTGT		PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding					4789		chr10	TogoVar
PROSER2_chr10_11818356_11877277	11842931	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	348	0.0029	31	c.-81 others(48): Show c.-81-9039_-81-9038insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
PROZ_chr13_113153648_113177386	113154228	G G	GCGGGGCG others(24): Show GCGGGGCGTCGGGGAGGGCAGGGGCACGTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG02071.hp2 others(4): Show HG00673.hp1 HG00735.hp1 HG02071.hp2 HG02080.hp1 HG02273.hp2 HG02809.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0143 a0001c0001t0002g0035 a0001c0001t0002g0267 a0002c0003t0001g0148	7	378	0.0185	31	c.-44 others(42): Show c.-4433_-4432insCGGGGCGTCGGGGAGGGCAGGGGCACGTGAC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding					4419		chr13	TogoVar
PRPF18_chr10_13581965_13635859	13634273	A A	ACTTCCTT others(24): Show ACTTCCTTCTGTGCCTCTGCTGTCTCTAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	390	0.0026	31	c.39 others(42): Show c.3933_*3934insCTTCCTTCTGTGCCTCTGCTGTCTCTAGGCC		PRPF18	ENSG00000165630.15	transcript	ENST00000378572.8	protein_coding					3415		chr10	TogoVar
PRPF19_chr11_60885547_60911585	60899495	A A	ACTCATAC others(24): Show ACTCATACAGCATCAGGGCTTGTGGAGGCGTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	350	0.0029	31	c.829 others(46): Show c.829-222_829-192dupGACGCCTCCACAAGCCCTGATGCTGTATGA G		PRPF19	ENSG00000110107.9	transcript	ENST00000227524.9	protein_coding	10/15						chr11	TogoVar
PRPF31_chr19_54110754_54136713	54133762	C C	CCTCTCTC others(24): Show CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	227	0.0044	31	c.23 others(42): Show c.2330_*2331insCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2050		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54134099	C C	CCTCCACC others(24): Show CCTCCACCTCCCCTCCCTCTCTCCCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp1 NA19240.hp2 HG01891.hp2 HG02559.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0059	3	227	0.0132	31	c.26 others(42): Show c.2667_*2668insCTCCACCTCCCCTCCCTCTCTCCCTCCCTCT		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2387		chr19	TogoVar
PRPF3_chr1_150316533_150358233	150343283	G G	GGTATACT others(24): Show GGTATACTAATATCTCTGCCTGACAGTTGACA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01109.hp2 HG01168.hp2 HG01255.hp2 others(4): Show HG01109.hp2 HG01168.hp2 HG01255.hp2 HG01257.hp2 HG01975.hp2 HG03239.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 others(4): Show a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343	7	362	0.0193	31	c.128 others(43): Show c.1283-25_1288dupGTATACTAATATCTCTGCCTGACAGTTGACA	p.Asn others(5): Show p.Asn430fs	PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	10/16	1397/2414	1289/2052	430/683		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0311 a0001c0002t0024g0311	1	392	0.0026	31	c.582 others(46): Show c.582-989_582-988insATATATATATATATATATATATATATATAT T		PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2						chr6	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0083 a0002c0002t0012g0083	1	316	0.0032	31	c.79 others(42): Show c.7922_*7923insATATATATATATATATATATTTTTTTTTTTT		PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding					3742		chr22	TogoVar
PRR16_chr5_120459300_120692314	120548780	A A	AAGGAACC others(24): Show AAGGAACCAGGGAACAGACAGTGATATACACC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	170	0.0059	31	c.159 others(50): Show c.159+84140_159+84141insCCAGGGAACAGACAGTGATATACACC AGGAA		PRR16	ENSG00000184838.15	transcript	ENST00000407149.7	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr5	TogoVar
PRR16_chr5_120459300_120692314	120548780	A A	AAGGAATC others(24): Show AAGGAATCAGGGAACAGACAGTGATATACACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(34): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00597.hp1 HG00738.hp1 HG01071.hp2 HG01106.hp2 HG01168.hp1 HG01358.hp1 HG01884.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03831.hp1 HG06807.hp1 NA18968.hp1 NA19070.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(34): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0003g0135 a0001c0001t0004g0006 a0001c0003t0001g0124 a0002c0002t0001g0015 a0002c0002t0001g0036 a0002c0002t0001g0047 a0002c0002t0001g0065 a0002c0002t0001g0081 a0002c0002t0001g0101 a0002c0002t0001g0139 a0002c0002t0001g0169	37	170	0.2177	31	c.159 others(50): Show c.159+84137_159+84167dupGGAATCAGGGAACAGACAGTGATATA CACCA		PRR16	ENSG00000184838.15	transcript	ENST00000407149.7	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr5	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0052 a0010c0014t0001g0052	1	216	0.0046	31	c.-51 others(48): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTT		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTTCTTTCTTTCTTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0167 a0002c0006t0004g0167	1	216	0.0046	31	c.-51 others(48): Show c.-51-9598_-51-9597insCTTTCTTTTCTTTCTTTCTTTTCTTTCT TTT		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420494	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18906.hp2 HG01261.hp1 NA18906.hp2	a0002 a0005 a0002 a0005	a0002c0039 a0005c0005 a0002c0039 a0005c0005	a0002c0039t0008 a0005c0005t0002 a0002c0039t0008 a0005c0005t0002	a0002c0039t0008g0206 a0005c0005t0002g0214 a0002c0039t0008g0206 a0005c0005t0002g0214	2	216	0.0093	31	c.-51 others(48): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	216	0.0046	31	c.112 others(48): Show c.1120+766_1120+767insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171518496	T T	TTTTTTTC others(24): Show TTTTTTTCAATTTTTTTTCAATTTTTTTTCAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0164 a0001c0005t0004g0164	1	336	0.0030	31	c.750 others(46): Show c.750+688_750+689insCAATTTTTTTTCAATTTTTTTTCAATTTTT T		PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	6/34					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRC2C_chr1_171480530_171598511	171569572	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	336	0.0030	31	c.665 others(50): Show c.6651+1233_6651+1234insATATATATATATATATATATATATAT ATATA		PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34						chr1	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0007 a0004c0004t0001g0007	1	336	0.0030	31	c.665 others(50): Show c.6651+1236_6651+1237insTATATATATATATATATATATATATA TATAT		PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34						chr1	TogoVar
PRRC2C_chr1_171480530_171598511	171586063	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0011 a0002c0024t0011	a0002c0024t0011g0081 a0002c0024t0011g0081	1	336	0.0030	31	c.775 others(48): Show c.7750-919_7750-918insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRG4_chr11_32824927_32863120	32839631	A A	AATATTTT others(24): Show AATATTTTGAATATTATTAAAATATAAGTATT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0014 a0001c0002t0001 a0001c0002t0014	a0001c0002t0001g0159 a0001c0002t0014g0158 a0001c0002t0001g0159 a0001c0002t0014g0158	2	402	0.0050	31	c.317 others(46): Show c.317-418_317-388dupGTATTATATTTTGAATATTATTAAAATATA A		PRRG4	ENSG00000135378.4	transcript	ENST00000257836.4	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRX1_chr1_170659131_170744421	170664088	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0349 a0001c0001t0006g0349	1	356	0.0028	31	c.-13 others(40): Show c.-131_-130insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT		PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding					42		chr1	TogoVar
PRRX1_chr1_170659131_170744421	170669425	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	356	0.0028	31	c.241 others(48): Show c.241+4995_241+4996insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRUNE2_chr9_76606376_76911114	76879903	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0008 a0007c0006t0008	a0007c0006t0008g0006 a0007c0006t0008g0007 a0007c0006t0008g0006 a0007c0006t0008g0007	2	240	0.0083	31	c.37- others(48): Show c.37-25696_37-25695insAAAAAAAAATATATATATATATATATAT ATA		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18						chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76879904	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0173 a0018c0022t0001g0173	1	240	0.0042	31	c.37- others(48): Show c.37-25697_37-25696insTATATATATATATATATATATATATATA TAT		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18						chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CTTATATA others(24): Show CTTATATATCATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG03017.hp1 HG04115.hp2 HG01975.hp1 HG03017.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0022 a0001c0001t0030 a0001c0001t0007 a0001c0001t0022 a0001c0001t0030	a0001c0001t0007g0172 a0001c0001t0022g0005 a0001c0001t0030g0072 a0001c0001t0007g0172 a0001c0001t0022g0005 a0001c0001t0030g0072	3	300	0.0100	31	c.-18 others(42): Show c.-1889_-1888insTTATATATCATATATATATATATATATATAT		PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding					1793		chr10	TogoVar
PSAT1_chr9_78292125_78335093	78299144	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	416	0.0024	31	c.61- others(46): Show c.61-1430_61-1429insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD2_chr5_139790808_139849466	139830568	T T	TCCTTCCT others(24): Show TCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0081 a0001c0002t0003g0081	1	276	0.0036	31	c.127 others(50): Show c.1270-3134_1270-3133insCCTTCCTTCCTTTCTTTCTTTCTTTC TTTCC		PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14						chr5	TogoVar
PSD3_chr8_18522303_19018703	18524782	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0036 a0002c0011t0036	a0002c0011t0036g0160 a0002c0011t0036g0160	1	228	0.0044	31	c.10 others(44): Show c.10960_*10961insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding					2520		chr8	TogoVar
PSD3_chr8_18522303_19018703	18831084	C C	CTAGCTGT others(24): Show CTAGCTGTGTGAAGTCAGGCAAGTTACTTGAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01099.hp1 others(35): Show HG00738.hp1 HG01081.hp2 HG01099.hp1 HG01243.hp2 HG01496.hp2 HG01891.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19060.hp1 NA19066.hp1 NA19074.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0012	a0001c0001 a0001c0002 a0001c0013 others(15): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0001c0022 a0002c0003 a0002c0005 a0002c0007 a0002c0011 a0003c0004 a0003c0008 a0004c0006 a0004c0009 a0004c0010 a0005c0012 a0006c0019 a0011c0035 a0012c0018	a0001c0001t0003 a0001c0001t0022 a0001c0001t0028 others(31): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0028 a0001c0001t0030 a0001c0001t0042 a0001c0001t0052 a0001c0001t0072 a0001c0002t0010 a0001c0002t0017 a0001c0002t0019 a0001c0013t0001 a0001c0014t0013 a0001c0014t0020 a0001c0022t0006 a0002c0003t0001 a0002c0003t0014 a0002c0003t0067 a0002c0005t0001 a0002c0007t0002 a0002c0011t0002 a0003c0004t0001 a0003c0004t0027 a0003c0008t0003 a0004c0006t0001 a0004c0009t0003 a0004c0009t0009 a0004c0009t0076 a0004c0010t0002 a0004c0010t0012 a0005c0012t0010 a0005c0012t0033 a0006c0019t0068 a0011c0035t0025 a0012c0018t0056	a0001c0001t0003g0147 a0001c0001t0003g0198 a0001c0001t0022g0193 others(35): Show a0001c0001t0003g0147 a0001c0001t0003g0198 a0001c0001t0022g0193 a0001c0001t0028g0040 a0001c0001t0030g0152 a0001c0001t0042g0158 a0001c0001t0052g0203 a0001c0001t0072g0188 a0001c0002t0010g0039 a0001c0002t0017g0181 a0001c0002t0019g0182 a0001c0013t0001g0007 a0001c0014t0013g0180 a0001c0014t0020g0179 a0001c0022t0006g0196 a0002c0003t0001g0052 a0002c0003t0001g0066 a0002c0003t0014g0165 a0002c0003t0067g0138 a0002c0005t0001g0033 a0002c0007t0002g0131 a0002c0011t0002g0127 a0003c0004t0001g0172 a0003c0004t0027g0156 a0003c0008t0003g0015 a0004c0006t0001g0063 a0004c0006t0001g0107 a0004c0009t0003g0126 a0004c0009t0009g0028 a0004c0009t0076g0155 a0004c0010t0002g0134 a0004c0010t0002g0145 a0004c0010t0012g0118 a0005c0012t0010g0187 a0005c0012t0033g0194 a0006c0019t0068g0109 a0011c0035t0025g0157 a0012c0018t0056g0201	38	228	0.1667	31	c.163 others(52): Show c.1635-26187_1635-26186insTTCAAGTAACTTGCCTGACTTCAC ACAGCTA		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15						chr8	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0001 a0014c0025t0001	a0014c0025t0001g0183 a0014c0025t0001g0183	1	430	0.0023	31	c.430 others(48): Show c.430+2076_430+2077insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	416	0.0024	31	c.430 others(48): Show c.430+2096_430+2097insAAATATATATATATATATATATATATAT ATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0338 a0001c0002t0004g0338	1	416	0.0024	31	c.430 others(48): Show c.430+2096_430+2097insAAAAAAATATATATATATATATATATAT ATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSMC1_chr14_90251553_90280429	90273744	G G	GGGCCAGC others(24): Show GGGCCAGCTGAGGTCAGCATTTCCTTGCTGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp1 NA19085.hp1 NA18967.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0066 a0001c0002t0065 a0001c0002t0066	a0001c0002t0065g0060 a0001c0002t0066g0006 a0001c0002t0065g0060 a0001c0002t0066g0006	2	390	0.0051	31	c.13 others(42): Show c.1338_*1368dupGGCCAGCTGAGGTCAGCATTTCCTTGCTGGC		PSMC1	ENSG00000100764.14	transcript	ENST00000261303.13	protein_coding	11/11				1369	INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMC3_chr11_47413775_47431439	47416495	T T	TACTGGCT others(24): Show TACTGGCTGCCTTGGTTCTGCACGGCCTTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	380	0.0026	31	c.23 others(42): Show c.2339_*2340insTGGAAGGCCGTGCAGAACCAAGGCAGCCAGT		PSMC3	ENSG00000165916.9	transcript	ENST00000298852.8	protein_coding					2279		chr11	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19079.hp1 NA19065.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0253 a0001c0001t0001g0254	2	268	0.0075	31	c.49- others(48): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTGT others(24): Show GTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	268	0.0037	31	c.571 others(48): Show c.571-1213_571-1212insGTTGTTTTTTTTTTTTTTTTTTTTTTTT TTT		PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(24): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02004.hp1 HG03710.hp2 others(1): Show HG01358.hp2 HG02004.hp1 HG03710.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0033 a0001c0001t0002g0095 a0001c0001t0003g0039 others(1): Show a0001c0001t0002g0033 a0001c0001t0002g0095 a0001c0001t0003g0039 a0001c0001t0003g0182	4	268	0.0149	31	c.571 others(48): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		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(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	420	0.0024	31	c.-35 others(42): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding					3473		chr1	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0342 a0001c0005t0001g0342	1	384	0.0026	31	c.481 others(48): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46						chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0032 a0004c0005t0032	a0004c0005t0032g0189 a0004c0005t0032g0189	1	326	0.0031	31	c.366 others(48): Show c.366-1551_366-1550insATATATATATATATATATATATATATAT ATT		PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133570	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	326	0.0031	31	c.366 others(48): Show c.366-1551_366-1550insATATATATATATATATATATATATATAT ATA		PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6						chr20	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	412	0.0024	31	c.174 others(48): Show c.174+1096_174+1097insATATATATATATATATATATATATTTTT TTT		PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
PSPH_chr7_56006064_56056444	56013006	T T	TTATATAT others(24): Show TTATATATATACACACATATACTATATATGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	392	0.0026	31	c.571 others(48): Show c.571-1168_571-1138dupTACATATATAGTATATGTGTGTATATAT ATA		PSPH	ENSG00000146733.14	transcript	ENST00000275605.8	protein_coding	7/7						chr7	TogoVar
PSPH_chr7_56006064_56056444	56013055	A A	ACTATATA others(24): Show ACTATATATGTATATATATACACACATATACG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0121 a0001c0001t0006g0121	1	392	0.0026	31	c.571 others(48): Show c.571-1187_571-1186insCGTATATGTGTGTATATATATACATATA TAG		PSPH	ENSG00000146733.14	transcript	ENST00000275605.8	protein_coding	7/7						chr7	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20752.hp2 HG01243.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0329 a0001c0002t0001g0283 a0001c0002t0001g0329	2	364	0.0055	31	c.905 others(48): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr1	TogoVar

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