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
PDGFRL_chr8_17572216_17648144	17638765	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0377 a0001c0001t0001g0034 a0001c0001t0001g0377	2	400	0.0050	-21	c.940 others(38): Show c.940-3847_940-3827delTATATATATATATATATATAT		PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5						chr8	TogoVar
PDLIM1_chr10_95232572_95296003	95256985	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01069.hp1 others(5): Show HG00323.hp1 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01175.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0018 others(3): Show a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0062	8	338	0.0237	-21	c.533 others(38): Show c.533+6858_533+6878delCTTTCTTTCTTTCTTTCTTTT		PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6						chr10	TogoVar
PDP2_chr16_66875515_66896101	66893524	TATATATA others(14): Show TATATATATATATATATATATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG03486.hp1 HG01255.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0007 a0001c0001t0017	a0001c0001t0007g0004 a0001c0001t0017g0031 a0001c0001t0007g0004 a0001c0001t0017g0031	2	356	0.0056	-21	c.76 others(32): Show c.7651_*7671delATATATATATATATATATATG		PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding					2424		chr16	TogoVar
PDP2_chr16_66875515_66896101	66893526	TATATATA others(14): Show TATATATATATATATATATGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01070.hp2 HG02055.hp2 others(4): Show HG00558.hp2 HG01070.hp2 HG02055.hp2 HG03041.hp1 NA18906.hp1 NA19081.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0055 a0001c0001t0056 others(1): Show a0001c0001t0007 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057	a0001c0001t0007g0004 a0001c0001t0007g0027 a0001c0001t0055g0004 others(2): Show a0001c0001t0007g0004 a0001c0001t0007g0027 a0001c0001t0055g0004 a0001c0001t0056g0004 a0001c0001t0057g0012	7	356	0.0197	-21	c.76 others(32): Show c.7653_*7673delATATATATATATATATATGTA		PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding					2426		chr16	TogoVar
PDP2_chr16_66875515_66896101	66893528	TATATATA others(14): Show TATATATATATATATATGTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG03041.hp2 others(1): Show HG02630.hp1 HG02886.hp2 HG03041.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0003	4	356	0.0112	-21	c.76 others(32): Show c.7655_*7675delATATATATATATATATGTATA		PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding					2428		chr16	TogoVar
PDP2_chr16_66875515_66896101	66893530	TATATATA others(14): Show TATATATATATATATGTATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02486.hp2 others(2): Show HG02109.hp2 HG02145.hp1 HG02486.hp2 HG02615.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0050 a0001c0001t0052 a0001c0001t0010 a0001c0001t0050 a0001c0001t0052	a0001c0001t0010g0003 a0001c0001t0050g0003 a0001c0001t0052g0003 a0001c0001t0010g0003 a0001c0001t0050g0003 a0001c0001t0052g0003	5	356	0.0140	-21	c.76 others(32): Show c.7657_*7677delATATATATATATATGTATATA		PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding					2430		chr16	TogoVar
PDP2_chr16_66875515_66896101	66893532	TATATATA others(14): Show TATATATATATATGTATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02922.hp1 NA19043.hp2 HG02809.hp2 HG02922.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0019 a0001c0001t0053 a0001c0001t0010 a0001c0001t0019 a0001c0001t0053	a0001c0001t0010g0003 a0001c0001t0019g0020 a0001c0001t0053g0003 a0001c0001t0010g0003 a0001c0001t0019g0020 a0001c0001t0053g0003	3	356	0.0084	-21	c.76 others(32): Show c.7659_*7679delATATATATATATGTATATATA		PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding					2432		chr16	TogoVar
PDPR_chr16_70109332_70167537	70163119	TTGTATTT others(14): Show TTGTATTTTCGTAGAGACGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0262 a0001c0001t0055g0262	1	289	0.0035	-21	c.62 others(32): Show c.6241_*6261delTGTATTTTCGTAGAGACGGGG		PDPR	ENSG00000090857.14	transcript	ENST00000288050.9	protein_coding					583		chr16	TogoVar
PDS5B_chr13_32581452_32783019	32635170	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01175.hp2 others(4): Show HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01981.hp2 HG03688.hp1 HG03942.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0057 a0001c0001t0002 a0001c0001t0006 a0001c0001t0057	a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0138 others(4): Show a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0138 a0001c0001t0002g0191 a0001c0001t0006g0136 a0001c0001t0006g0169 a0001c0001t0057g0180	7	334	0.0210	-21	c.-19 others(40): Show c.-19-13559_-19-13539delTTTTTTTTTTTTTTTTTTTTT		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS2_chr6_107147562_107464564	107429902	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	260	0.0039	-21	c.296 others(40): Show c.296+29067_296+29087delATATATATATATATATATATA		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar
PDXK_chr21_43714129_43767299	43741362	GGGGGGCT others(14): Show GGGGGGCTGGCGGGGGGCTGGC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA21309.hp2 NA18945.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0050 a0001c0001t0001 a0001c0001t0050	a0001c0001t0001g0257 a0001c0001t0050g0344 a0001c0001t0001g0257 a0001c0001t0050g0344	2	358	0.0056	-21	c.143 others(36): Show c.143-299_143-279delCTGGCGGGGGGCTGGCGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43752464	AGCCGTGG others(14): Show AGCCGTGGCTGACATGTGACCG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18942.hp1 NA18966.hp1 others(10): Show NA18941.hp1 NA18942.hp1 NA18966.hp1 NA18969.hp2 NA18983.hp2 NA18998.hp2 NA19003.hp2 NA19007.hp1 NA19064.hp2 NA19070.hp1 NA19077.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0034 others(1): Show a0001c0001t0001 a0001c0001t0032 a0001c0001t0034 a0001c0001t0096	a0001c0001t0001g0160 a0001c0001t0001g0246 a0001c0001t0001g0302 others(10): Show a0001c0001t0001g0160 a0001c0001t0001g0246 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0032g0309 a0001c0001t0034g0306 a0001c0001t0096g0313	13	358	0.0363	-21	c.511 others(34): Show c.511-41_511-21delATGTGACCGGCCGTGGCTGAC		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXP_chr22_37653723_37671932	37661917	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	418	0.0024	-21	c.574 others(38): Show c.574+2583_574+2603delTTTTTTTTTTTTTTTTTTTTT		PDXP	ENSG00000241360.2	transcript	ENST00000215904.7	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr22	TogoVar
PDZD2_chr5_31634131_32115932	31740524	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG02055.hp1 others(3): Show HG01192.hp2 HG01891.hp1 HG02055.hp1 NA18906.hp2 NA19030.hp2 NA20300.hp2	a0001 a0032 a0033 others(2): Show a0001 a0032 a0033 a0034 a0036	a0001c0001 a0001c0050 a0032c0061 others(3): Show a0001c0001 a0001c0050 a0032c0061 a0033c0042 a0034c0033 a0036c0060	a0001c0001t0001 a0001c0050t0036 a0032c0061t0016 others(3): Show a0001c0001t0001 a0001c0050t0036 a0032c0061t0016 a0033c0042t0014 a0034c0033t0007 a0036c0060t0014	a0001c0001t0001g0195 a0001c0050t0036g0148 a0032c0061t0016g0193 others(3): Show a0001c0001t0001g0195 a0001c0050t0036g0148 a0032c0061t0016g0193 a0033c0042t0014g0187 a0034c0033t0007g0072 a0036c0060t0014g0204	6	216	0.0278	-21	c.-36 others(42): Show c.-360-58351_-360-58331delAAAAAAAAAAAAAAAAAAAAA		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31844954	AAACAAGA others(14): Show AAACAAGAAACAAGTTTCTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0014 a0033c0042t0014	a0033c0042t0014g0187 a0033c0042t0014g0187	1	216	0.0046	-21	c.476 others(40): Show c.476+45232_476+45252delACAAGAAACAAGTTTCTTTTA		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD4_chrX_153797166_153835544	153830077	GCGCCAAC others(14): Show GCGCCAACACCCAACAGCCCCA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0203 a0003c0005t0001g0203	1	281	0.0036	-21	c.60+ others(34): Show c.60+141_60+161delTGGGGCTGTTGGGTGTTGGCG		PDZD4	ENSG00000067840.13	transcript	ENST00000393758.7	protein_coding	1/7						chrX	TogoVar
PDZD8_chr10_117272274_117380440	117350797	AGGAGGCT others(14): Show AGGAGGCTGAGGCAGGAGAATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0134 a0001c0002t0002g0134	1	322	0.0031	-21	c.873 others(38): Show c.873-9716_873-9696delCATTCTCCTGCCTCAGCCTCC		PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4						chr10	TogoVar
PDZD8_chr10_117272274_117380440	117357765	CCAAAAAA others(14): Show CCAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02559.hp2 NA18947.hp1 others(2): Show HG02015.hp2 HG02559.hp2 NA18947.hp1 NA19062.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0005 a0001c0002t0011 a0001c0001t0020 a0001c0002t0005 a0001c0002t0011	a0001c0001t0020g0176 a0001c0002t0005g0022 a0001c0002t0005g0031 others(2): Show a0001c0001t0020g0176 a0001c0002t0005g0022 a0001c0002t0005g0031 a0001c0002t0005g0035 a0001c0002t0011g0030	5	322	0.0155	-21	c.872 others(40): Show c.872+16570_872+16590delTTTTTTTTTTTTTTTTTTTTG		PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4						chr10	TogoVar
PDZD8_chr10_117272274_117380440	117357766	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02451.hp2 HG00099.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0290 a0001c0001t0001g0228 a0001c0001t0001g0290	2	322	0.0062	-21	c.872 others(40): Show c.872+16569_872+16589delTTTTTTTTTTTTTTTTTTTTT		PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4						chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73424664	AAGAAGAG others(14): Show AAGAAGAGGAAAAATCCAACAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	216	0.0046	-21	c.919 others(40): Show c.919-20290_919-20270delCTGTTGGATTTTTCCTCTTCT		PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9						chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73572389	TCTAAGTT others(14): Show TCTAAGTTGACATAAAAAAGTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG02109.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0002t0002 a0001c0010t0003 a0001c0001t0002 a0001c0002t0002 a0001c0010t0003	a0001c0001t0002g0129 a0001c0002t0002g0128 a0001c0002t0002g0130 others(2): Show a0001c0001t0002g0129 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0010t0003g0185 a0001c0010t0003g0186	5	216	0.0232	-21	c.918 others(40): Show c.918+29944_918+29964delGACTTTTTTATGTCAACTTAG		PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9						chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41383969	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp2 others(22): Show HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00673.hp2 HG00741.hp1 HG01256.hp2 HG01258.hp2 HG02074.hp2 HG02523.hp1 HG02698.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG04228.hp2 NA18906.hp2 NA18954.hp2 NA18955.hp2 NA18964.hp1 NA18968.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18998.hp1 NA19058.hp2 NA19065.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0010 a0022	a0001c0001 a0001c0004 a0001c0034 others(14): Show a0001c0001 a0001c0004 a0001c0034 a0001c0042 a0002c0002 a0002c0009 a0002c0055 a0004c0003 a0004c0012 a0004c0020 a0004c0040 a0005c0008 a0005c0029 a0005c0060 a0007c0045 a0010c0051 a0022c0038	a0001c0001t0001 a0001c0004t0001 a0001c0034t0003 others(15): Show a0001c0001t0001 a0001c0004t0001 a0001c0034t0003 a0001c0042t0001 a0002c0002t0001 a0002c0002t0002 a0002c0009t0001 a0002c0055t0001 a0004c0003t0001 a0004c0012t0001 a0004c0020t0001 a0004c0040t0001 a0005c0008t0003 a0005c0029t0001 a0005c0060t0001 a0007c0045t0001 a0010c0051t0001 a0022c0038t0001	a0001c0001t0001g0013 a0001c0001t0001g0066 a0001c0004t0001g0046 others(22): Show a0001c0001t0001g0013 a0001c0001t0001g0066 a0001c0004t0001g0046 a0001c0004t0001g0072 a0001c0004t0001g0111 a0001c0034t0003g0037 a0001c0042t0001g0015 a0002c0002t0001g0174 a0002c0002t0001g0179 a0002c0002t0001g0191 a0002c0002t0002g0162 a0002c0009t0001g0185 a0002c0055t0001g0205 a0004c0003t0001g0115 a0004c0012t0001g0047 a0004c0012t0001g0102 a0004c0012t0001g0103 a0004c0020t0001g0153 a0004c0040t0001g0075 a0005c0008t0003g0189 a0005c0029t0001g0088 a0005c0060t0001g0176 a0007c0045t0001g0125 a0010c0051t0001g0021 a0022c0038t0001g0158	25	206	0.1214	-21	c.844 others(42): Show c.844-122456_844-122436delTTTTTTTTTTTTTTTTTTTTT		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402131	ATATATAT others(14): Show ATATATATATACACACACTGAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0043 a0003c0043	a0003c0043t0001 a0003c0043t0001	a0003c0043t0001g0117 a0003c0043t0001g0117	1	206	0.0049	-21	c.844 others(42): Show c.844-104314_844-104294delCACACACTGAGTATATATATA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402237	ATATATAT others(14): Show ATATATATATACACACACTGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01258.hp2 HG04228.hp2 HG00099.hp2 HG01258.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0009 a0001c0004 a0002c0002 a0002c0009	a0001c0004t0001 a0002c0002t0002 a0002c0009t0001 a0001c0004t0001 a0002c0002t0002 a0002c0009t0001	a0001c0004t0001g0046 a0002c0002t0002g0162 a0002c0009t0001g0172 a0001c0004t0001g0046 a0002c0002t0002g0162 a0002c0009t0001g0172	3	206	0.0146	-21	c.844 others(42): Show c.844-104208_844-104188delCACACACTGAGTATATATATA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402339	ATATATAT others(14): Show ATATATATATACACACAGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0090 a0002c0030t0001g0090	1	206	0.0049	-21	c.844 others(42): Show c.844-104106_844-104086delCACACAGTGTGTATATATATA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77298197	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19043.hp1 HG02717.hp2 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0034 a0001c0004t0036 a0001c0004t0034 a0001c0004t0036	a0001c0004t0034g0308 a0001c0004t0036g0306 a0001c0004t0034g0308 a0001c0004t0036g0306	2	326	0.0061	-21	c.-60 others(42): Show c.-602-11714_-602-11694delAAAAAAAAAAAAAAAAAAAAA		PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9						chr15	TogoVar
PEAK1_chr15_77103158_77425104	77352988	CAGTGAGT others(14): Show CAGTGAGTAAAACACTCTGGCA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0259 a0001c0001t0053g0259	1	326	0.0031	-21	c.-60 others(42): Show c.-603+12154_-603+12174delTGCCAGAGTGTTTTACTCACT		PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9						chr15	TogoVar
PELP1_chr17_4664774_4709137	4668934	CATATATA others(14): Show CATATATATATATATCACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01256.hp2 HG01346.hp2 others(2): Show HG01168.hp2 HG01256.hp2 HG01346.hp2 NA18954.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0196	5	316	0.0158	-21	c.24 others(32): Show c.2484_*2504delATGTGTGATATATATATATAT		PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding					839		chr17	TogoVar
PEMT_chr17_17500563_17596708	17586272	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	348	0.0029	-21	c.96+ others(36): Show c.96+5238_96+5258delTTTTTCTTTCTTTCTTTCTTT		PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6						chr17	TogoVar
PENK_chr8_56435957_56451641	56441740	CTTCATGA others(14): Show CTTCATGAAGCCTCCATACCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp1 HG02056.hp2 HG02622.hp2 others(2): Show HG01109.hp1 HG02056.hp2 HG02622.hp2 HG03098.hp1 NA18906.hp2	a0003 a0003	a0003c0005 a0003c0015 a0003c0005 a0003c0015	a0003c0005t0001 a0003c0015t0001 a0003c0005t0001 a0003c0015t0001	a0003c0005t0001g0012 a0003c0015t0001g0054 a0003c0005t0001g0012 a0003c0015t0001g0054	5	436	0.0115	-21	c.315 others(28): Show c.315_335delAAGGTATGGAGGCTTCATGAA	p.Arg others(13): Show p.Arg106_Lys112del	PENK	ENSG00000181195.11	transcript	ENST00000451791.7	protein_coding	4/4	467/1251	315/804	105/267			chr8	TogoVar
PER3_chr1_7779291_7850177	7784381	GTGCGCGG others(14): Show GTGCGCGGCCGGGCGGGAGTTC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp2 HG01070.hp1 HG00673.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0283 a0001c0001t0001g0284	2	410	0.0049	-21	c.-22 others(35): Show c.-225+8_-225+28delCGCGGCCGGGCGGGAGTTCTG		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7784384	CGCGGCCG others(14): Show CGCGGCCGGGCGGGAGTTCTGG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18989.hp1 NA19065.hp2 HG02647.hp2 NA18989.hp1 NA19065.hp2	a0002 a0017 a0002 a0017	a0002c0002 a0017c0026 a0002c0002 a0017c0026	a0002c0002t0001 a0017c0026t0001 a0002c0002t0001 a0017c0026t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0017c0026t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0017c0026t0001g0021	3	410	0.0073	-21	c.-22 others(36): Show c.-225+32_-225+52delGGCCGGGCGGGAGTTCTGGGC		PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX12_chr17_35569795_35583571	35581309	TATATATA others(14): Show TATATATACAAATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(208): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0002c0002t0008 a0004c0005t0005	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 others(26): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0003g0003 a0001c0001t0004g0004 a0001c0001t0004g0024 a0001c0001t0005g0006 a0001c0001t0005g0014 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0025 a0001c0001t0005g0027 a0001c0001t0005g0036 a0001c0001t0007g0007 a0001c0001t0008g0010 a0001c0001t0008g0012 a0001c0001t0008g0028 a0001c0001t0008g0030 a0001c0001t0009g0008 a0001c0001t0009g0022 a0001c0001t0010g0013 a0001c0001t0011g0015 a0001c0001t0011g0032 a0001c0001t0012g0017 a0001c0001t0015g0029 a0001c0001t0018g0038 a0002c0002t0008g0021 a0004c0005t0005g0037	211	436	0.4839	-21	c.-33 others(32): Show c.-3309_-3289delTATATATATATTTGTATATAT		PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding					2739		chr17	TogoVar
PEX12_chr17_35569795_35583571	35581330	AATATATA others(14): Show AATATATACAAATATATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0031 a0001c0004t0007g0031	1	436	0.0023	-21	c.-33 others(32): Show c.-3330_-3310delATTATATATATTTGTATATAT		PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding					2760		chr17	TogoVar
PEX14_chr1_10469950_10635758	10577546	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	258	0.0039	-21	c.170 others(40): Show c.170-21690_170-21670delATATATATATATATATTTTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577548	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	258	0.0039	-21	c.170 others(40): Show c.170-21688_170-21668delATATATATATATATTTTTTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577556	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	258	0.0039	-21	c.170 others(40): Show c.170-21680_170-21660delATATATTTTTTTTTTTTTTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577562	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18969.hp1 HG01978.hp2 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0205 a0001c0002t0001g0201 a0001c0002t0001g0205	2	258	0.0078	-21	c.170 others(40): Show c.170-21648_170-21628delTTTTTTTTTTTTTTTTTTTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX3_chr6_143445805_143495616	143448069	AAAAAAGG others(14): Show AAAAAAGGATGAGTTCATCCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	412	0.0024	-21	c.-29 others(32): Show c.-2973_-2953delAAAAAGGATGAGTTCATCCTT		PEX3	ENSG00000034693.15	transcript	ENST00000367591.5	protein_coding					2735		chr6	TogoVar
PEX5L_chr3_179789958_180041937	179840402	TGGTCTCG others(14): Show TGGTCTCGAACTCCTGACCTCA	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0029 a0001c0001t0022g0029	1	220	0.0046	-21	c.822 others(40): Show c.822+18639_822+18659delTGAGGTCAGGAGTTCGAGACC		PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	8/14						chr3	TogoVar
PEX5_chr12_7184686_7216459	7197050	ATTATATA others(14): Show ATTATATATGTCACATATAATG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	428	0.0023	-21	c.449 others(38): Show c.449-1959_449-1939delTATATATGTCACATATAATGT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197074	ATTATATA others(14): Show ATTATATATGTCACATATAATG	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19012.hp2 NA18995.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0107 a0001c0001t0001g0053 a0001c0001t0001g0107	2	428	0.0047	-21	c.449 others(38): Show c.449-1935_449-1915delTATATATGTCACATATAATGT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197171	ATTATATA others(14): Show ATTATATATGTCATATATAATG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	428	0.0023	-21	c.449 others(38): Show c.449-1838_449-1818delTATATATGTCATATATAATGT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197195	ATTATATA others(14): Show ATTATATATGTCATATATAATG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	428	0.0023	-21	c.449 others(38): Show c.449-1814_449-1794delTATATATGTCATATATAATGT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PF4_chr4_73975811_73987027	73982164	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02738.hp1 HG03209.hp1 others(1): Show HG00741.hp2 HG02738.hp1 HG03209.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	4	366	0.0109	-21	c.-23 others(30): Show c.-232_-212delTTTTTTTTTTTTTTTTTTTTT		PF4	ENSG00000163737.5	transcript	ENST00000296029.4	protein_coding					138		chr4	TogoVar
PFDN1_chr5_140240035_140308101	140264020	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG03041.hp1 others(2): Show HG02622.hp1 HG02717.hp1 HG03041.hp1 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 others(2): Show a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127	5	330	0.0152	-21	c.285 others(40): Show c.285+17408_285+17428delTTTTTTTTTTTTTTTTTTTTT		PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding	3/3						chr5	TogoVar
PFDN1_chr5_140240035_140308101	140271955	TATATATA others(14): Show TATATATATTTATATACATAAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG03041.hp1 others(3): Show HG02622.hp1 HG02717.hp1 HG03041.hp1 HG03225.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0123 a0001c0001t0002g0124 others(3): Show a0001c0001t0002g0019 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127	6	330	0.0182	-21	c.285 others(38): Show c.285+9473_285+9493delCTTATGTATATAAATATATAT		PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding	3/3						chr5	TogoVar
PFKM_chr12_48114364_48151404	48129210	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp2 NA18947.hp2 others(9): Show NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18953.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18998.hp1 NA19000.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0072 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0105	12	412	0.0291	-21	c.86- others(36): Show c.86-1140_86-1120delTTTTTTTTTTTTTTTTTTTTT		PFKM	ENSG00000152556.17	transcript	ENST00000359794.11	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM1_chr10_97421191_97438444	97425926	GCCGCCCT others(14): Show GCCGCCCTCCGCCCTCCGCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02155.hp1 HG02683.hp1 others(4): Show HG01943.hp2 HG02155.hp1 HG02683.hp1 NA18985.hp1 NA19056.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0081	7	438	0.0160	-21	c.-38 others(30): Show c.-381_-361delCCGCCCTCCGCCCTCCGCCCT		PGAM1	ENSG00000171314.9	transcript	ENST00000334828.6	protein_coding					264		chr10	TogoVar
PGBD5_chr1_230309490_230431332	230396213	TCACATTC others(14): Show TCACATTCCTCCTTTTTACCCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01261.hp1 others(4): Show HG01069.hp1 HG01071.hp1 HG01261.hp1 HG01928.hp1 HG01943.hp2 NA18974.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0001t0126 a0001c0001t0131 others(2): Show a0001c0001t0026 a0001c0001t0126 a0001c0001t0131 a0001c0001t0136 a0001c0002t0003	a0001c0001t0026g0247 a0001c0001t0126g0256 a0001c0001t0131g0269 others(4): Show a0001c0001t0026g0247 a0001c0001t0126g0256 a0001c0001t0131g0269 a0001c0001t0136g0261 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0248	7	288	0.0243	-21	c.331 others(40): Show c.331+29364_331+29384delGGGGTAAAAAGGAGGAATGTG		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6						chr1	TogoVar

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