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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDZD2_chr5_31634131_32115932	31989427	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTATTTATTTTTTTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02970.hp2 HG03041.hp1 others(2): Show HG02486.hp2 HG02970.hp2 HG03041.hp1 HG03579.hp2 NA18906.hp1	a0005 a0007 a0008 others(1): Show a0005 a0007 a0008 a0017	a0005c0009 a0005c0045 a0007c0013 others(2): Show a0005c0009 a0005c0045 a0007c0013 a0008c0014 a0017c0048	a0005c0009t0013 a0005c0045t0038 a0007c0013t0004 others(2): Show a0005c0009t0013 a0005c0045t0038 a0007c0013t0004 a0008c0014t0001 a0017c0048t0002	a0005c0009t0013g0203 a0005c0045t0038g0176 a0007c0013t0004g0198 others(2): Show a0005c0009t0013g0203 a0005c0045t0038g0176 a0007c0013t0004g0198 a0008c0014t0001g0159 a0017c0048t0002g0062	5	216	0.0232	29	c.978 others(46): Show c.978+5784_978+5785insTTTATTTATTTTTTTATTTTTTTTTTTT T	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31989428	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0006 a0009c0018t0006	a0009c0018t0006g0177 a0009c0018t0006g0177	1	216	0.0046	29	c.978 others(46): Show c.978+5784_978+5785insTTTTATTTATTTATTTATTTTTTTTTTT T	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZRN3_chr3_73377431_73629941	73563013	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	216	0.0046	29	c.918 others(48): Show c.918+39340_918+39341insAAATATATATATATATATATATATAT ATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41214430	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	206	0.0049	29	c.843 others(48): Show c.843+20262_843+20263insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41266310	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0085 a0001c0013t0001g0085	1	206	0.0049	29	c.843 others(48): Show c.843+72147_843+72148insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402566	A A	ATATACAT others(22): Show ATATACATATATATATATATATATACTGAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0166 a0002c0009t0001g0166	1	206	0.0049	29	c.844 others(50): Show c.844-103886_844-103885insCATATATATATATATATATACTGA GTATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77288182	A A	AATAAATG others(22): Show AATAAATGTCCAAGTATGACATATAAAGTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG06807.hp2 others(1): Show HG02723.hp2 HG02896.hp1 HG06807.hp2 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0017 a0003c0003t0002 a0003c0003t0017	a0003c0003t0002g0113 a0003c0003t0002g0117 a0003c0003t0002g0144 others(1): Show a0003c0003t0002g0113 a0003c0003t0002g0117 a0003c0003t0002g0144 a0003c0003t0017g0118	4	326	0.0123	29	c.-60 others(48): Show c.-602-1707_-602-1679dupGACTTTATATGTCATACTTGGACATT TAT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAR1_chr1_156888718_156921429	156911076	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02486.hp1 HG03453.hp2 others(8): Show HG02155.hp2 HG02486.hp1 HG03453.hp2 HG03471.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA19004.hp1 NA19080.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0007 a0001c0016 others(1): Show a0001c0002 a0001c0007 a0001c0016 a0008c0022	a0001c0002t0003 a0001c0002t0004 a0001c0007t0004 others(2): Show a0001c0002t0003 a0001c0002t0004 a0001c0007t0004 a0001c0016t0003 a0008c0022t0002	a0001c0002t0003g0028 a0001c0002t0003g0058 a0001c0002t0003g0059 others(7): Show a0001c0002t0003g0028 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0074 a0001c0002t0003g0096 a0001c0002t0004g0127 a0001c0002t0004g0242 a0001c0007t0004g0132 a0001c0016t0003g0106 a0008c0022t0002g0123	11	384	0.0287	29	c.195 others(46): Show c.1951+350_1951+351insTTTCTTTCTTTCCTTTCTTTCTTTCTTT C	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PELP1_chr17_4664774_4709137	4668953	C C	CATATATA others(22): Show CATATATATAACACATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0213 a0006c0008t0004g0213	1	316	0.0032	29	c.24 others(40): Show c.2485_*2486insATATATATATATATATGTGTTATATATAT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding		820		chr17	TogoVar
PER3_chr1_7779291_7850177	7806810	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	410	0.0024	29	c.113 others(48): Show c.1137-2083_1137-2082insTATATATATATATATATATATATATA TAT	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21			chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	410	0.0024	29	c.113 others(48): Show c.1137-2080_1137-2079insAAAAAAAAAAAAAAATATATATATAT ATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0140 a0001c0003t0001g0140	1	410	0.0024	29	c.113 others(48): Show c.1137-2080_1137-2079insAAAAAAAAAAAAATATATATATATAT ATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PER3_chr1_7779291_7850177	7815991	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18969.hp1 HG01099.hp2 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0093 a0001c0003t0001g0129 a0001c0003t0001g0093 a0001c0003t0001g0129	2	410	0.0049	29	c.152 others(48): Show c.1523-3268_1523-3267insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	977073	G G	GGGAACCG others(22): Show GGGAACCGCCTCCACTCCCCCCGCAACCCC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	408	0.0025	29	c.215 others(46): Show c.2150-450_2150-449insGGGGTTGCGGGGGGAGTGGAGGCGGTTC C	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	978018	C C	CCCCCCCC others(22): Show CCCCCCCCAACCCCAGGAACCGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00642.hp1 others(67): Show HG00140.hp1 HG00438.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18944.hp1 NA18947.hp2 NA18957.hp2 NA18987.hp1 NA18999.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp2 NA19043.hp1 NA19075.hp2 NA19078.hp1 NA20129.hp1 NA20752.hp1	a0002 a0003 a0014 others(2): Show a0002 a0003 a0014 a0021 a0022	a0002c0002 a0002c0009 a0002c0011 others(4): Show a0002c0002 a0002c0009 a0002c0011 a0003c0026 a0014c0039 a0021c0024 a0022c0027	a0002c0002t0001 a0002c0002t0002 a0002c0009t0002 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0009t0002 a0002c0011t0002 a0003c0026t0002 a0014c0039t0002 a0021c0024t0002 a0022c0027t0002	a0002c0002t0001g0057 a0002c0002t0002g0006 a0002c0002t0002g0007 others(36): Show a0002c0002t0001g0057 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0056 a0002c0002t0002g0240 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0009t0002g0260 a0002c0009t0002g0261 a0002c0009t0002g0262 a0002c0009t0002g0263 a0002c0009t0002g0264 a0002c0011t0002g0047 a0002c0011t0002g0238 a0003c0026t0002g0251 a0014c0039t0002g0265 a0021c0024t0002g0239 a0022c0027t0002g0058	70	408	0.1716	29	c.214 others(46): Show c.2149+834_2149+862dupTTGGGAGGCGGTTCCTGGGGTTGGGGGG G	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(22): Show CTTTATTTCTTTCTTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	408	0.0025	29	c.-26 others(40): Show c.-2692_-2691insATAAATAAATAAATAAAGAAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(22): Show CTTTATTTCTTTCTTTCTTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 NA19079.hp1 HG01192.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0030 a0001c0001 a0001c0030	a0001c0001t0001 a0001c0030t0001 a0001c0001t0001 a0001c0030t0001	a0001c0001t0001g0146 a0001c0030t0001g0096 a0001c0001t0001g0146 a0001c0030t0001g0096	2	408	0.0049	29	c.-26 others(40): Show c.-2692_-2691insATAAATAAATAAAGAAAGAAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(22): Show CTTTATTTCTTTCTTTCTTTCTTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	408	0.0025	29	c.-26 others(40): Show c.-2692_-2691insATAAATAAAGAAAGAAAGAAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(22): Show CTTTATTTCTTTCTTTCTTTCTTTCTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 NA19012.hp1 HG03239.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0172 a0002c0002t0002g0050 a0001c0001t0001g0172 a0002c0002t0002g0050	2	408	0.0049	29	c.-26 others(40): Show c.-2692_-2691insATAAAGAAAGAAAGAAAGAAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(22): Show CTTTATTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00639.hp1 others(39): Show HG00099.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG01106.hp1 HG01255.hp2 HG01358.hp2 HG01975.hp2 HG01981.hp1 HG02074.hp2 HG02080.hp1 HG02486.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18973.hp2 NA18983.hp2 NA18987.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19056.hp1 NA19064.hp1 NA19065.hp2 NA19091.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0011 a0012	a0001c0001 a0001c0007 a0001c0032 others(7): Show a0001c0001 a0001c0007 a0001c0032 a0001c0034 a0002c0002 a0004c0004 a0006c0008 a0007c0010 a0011c0041 a0012c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0001c0032t0007 a0001c0034t0001 a0002c0002t0002 a0004c0004t0002 a0006c0008t0001 a0007c0010t0001 a0011c0041t0001 a0012c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0031 others(30): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0002g0008 a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0007t0001g0093 a0001c0032t0007g0170 a0001c0034t0001g0188 a0002c0002t0002g0243 a0004c0004t0002g0004 a0006c0008t0001g0089 a0006c0008t0001g0090 a0006c0008t0001g0091 a0007c0010t0001g0027 a0007c0010t0001g0094 a0011c0041t0001g0204 a0012c0019t0001g0082	42	408	0.1029	29	c.-26 others(40): Show c.-2692_-2691insAGAAAGAAAGAAAGAAAGAAAGAAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	430	0.0023	29	c.57 others(40): Show c.5727_*5728insATATATATATATATATATATATATATATA	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PEX10_chr1_2398974_2417564	2401252	T T	TCCTCCTC others(22): Show TCCTCCTCCCTCCTCCACCCTCCCTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	358	0.0028	29	c.45 others(40): Show c.4513_*4514insGGAGGAGGGAGGGTGGAGGAGGGAGGAGG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2721		chr1	TogoVar
PEX14_chr1_10469950_10635758	10577535	T T	TATATATA others(22): Show TATATATATATATATATATATATATTATAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	258	0.0039	29	c.170 others(48): Show c.170-21679_170-21678insTATACATATATATATATATATATATA TAT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX1_chr7_92482025_92533520	92516048	G G	GAAAAAAG others(22): Show GAAAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	310	0.0032	29	c.123 others(48): Show c.1239+1227_1239+1228insTTCTTTTCTTTTCTTTTCTTTTCTTT TTT	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX1_chr7_92482025_92533520	92516065	G G	GAGAAGAG others(22): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0251 a0001c0002t0002g0251	1	310	0.0032	29	c.123 others(48): Show c.1239+1210_1239+1211insTTCTCTTCTCTTCTCTTCTCTTCTCT TCT	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX5L_chr3_179789958_180041937	180024347	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0098 a0001c0001t0010g0098	1	220	0.0046	29	c.21+ others(46): Show c.21+12231_21+12232insATATATATATATATATATATATATATAT A	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PEX5_chr12_7184686_7216459	7196951	T T	TTATATAT others(22): Show TTATATATGTCACATATAATGTAATAATTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01952.hp2 others(8): Show HG00408.hp1 HG00741.hp1 HG01952.hp2 HG02015.hp1 HG02132.hp1 NA18906.hp2 NA18953.hp2 NA18961.hp1 NA19059.hp2 NA19088.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0002 a0001c0001t0002 a0005c0006t0002	a0001c0001t0002g0042 a0001c0001t0002g0243 a0001c0001t0002g0244 others(7): Show a0001c0001t0002g0042 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0292 a0005c0006t0002g0331	11	428	0.0257	29	c.449 others(46): Show c.449-2055_449-2054insATGTCACATATAATGTAATAATTATATA T	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718447	T T	TGGGGGGT others(22): Show TGGGGGGTCCTGGGTGGGGGGTCCTGGGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03516.hp2 HG01433.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0042 a0002c0003t0020 a0001c0001t0042 a0002c0003t0020	a0001c0001t0042g0118 a0002c0003t0020g0161 a0001c0001t0042g0118 a0002c0003t0020g0161	2	394	0.0051	29	c.719 others(44): Show c.719+345_719+346insGGTCCTGGGTGGGGGGGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718452	G G	GGTCCTGG others(22): Show GGTCCTGGGTGGGGGGTCCTGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0186 a0001c0001t0012g0186	1	394	0.0025	29	c.719 others(44): Show c.719+345_719+346insGGTCCTGGGTGGGGGTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718463	G G	GGGGTGTC others(22): Show GGGGTGTCCTGGGTGGGGTGCGTGCTGGGT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	394	0.0025	29	c.719 others(44): Show c.719+345_719+346insGTGTCCTGGGTGGGGTGCGTGCTGGGTGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP1_chr2_196828004_196931707	196927409	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	188	0.0053	29	c.-82 others(38): Show c.-822_-794dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		703		chr2	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0179 a0001c0001t0012g0179	1	376	0.0027	29	c.-35 others(40): Show c.-3543_-3542insATATATATATATATATTTTTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	376	0.0027	29	c.-35 others(40): Show c.-3543_-3542insATATATATATATATATATTTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGGT1B_chr5_115199012_115267877	115238291	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03927.hp2 HG01891.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0129 a0001c0001t0028 a0001c0001t0129	a0001c0001t0028g0285 a0001c0001t0129g0030 a0001c0001t0028g0285 a0001c0001t0129g0030	2	372	0.0054	29	c.328 others(44): Show c.328-311_328-283dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PGGT1B	ENSG00000164219.10	transcript	ENST00000419445.6	protein_coding	3/8			chr5	TogoVar
PGLYRP2_chr19_15463645_15484501	15482520	T T	TTCTTTTT others(22): Show TTCTTTTTTCTTTCTTTCTTTCTTCCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	382	0.0026	29	c.-31 others(40): Show c.-3150_-3149insGAAAGGAAGAAAGAAAGAAAGAAAAAAGA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		3020		chr19	TogoVar
PGM2L1_chr11_74325316_74403433	74402369	C C	CTAATATA others(22): Show CTAATATATATTATGTATACATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0207 a0002c0002t0005g0207	1	380	0.0026	29	c.-42 others(40): Show c.-4209_-4208insTATATATTATGTATACATAATATATATTA	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding		3937		chr11	TogoVar
PGM5_chr9_68351611_68536061	68376834	T T	TTTCTTTC others(22): Show TTTCTTTCTTTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0030 a0002c0008t0030	a0002c0008t0030g0235 a0002c0008t0030g0235	1	246	0.0041	29	c.262 others(46): Show c.262-1365_262-1364insTTCTTTCTTTCTCTTTCTTTCTTTCTTT C	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	1/10			chr9	TogoVar
PGPEP1_chr19_18335598_18374950	18338732	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02055.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0215 a0001c0001t0268 a0001c0001t0215 a0001c0001t0268	a0001c0001t0215g0303 a0001c0001t0268g0297 a0001c0001t0215g0303 a0001c0001t0268g0297	2	412	0.0049	29	c.-19 others(40): Show c.-1950_-1949insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding		1865		chr19	TogoVar
PHACTR1_chr6_12711767_13292837	12830125	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	108	0.0093	29	c.250 others(48): Show c.250+80338_250+80366dupAGAAAGAAAGAAAGAAAGAAAGAAAG AAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	12830129	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG00735.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0021 a0001c0001t0003g0042 a0001c0001t0001g0021 a0001c0001t0003g0042	2	108	0.0185	29	c.250 others(48): Show c.250+80340_250+80368dupAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13195757	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	108	0.0093	29	c.665 others(48): Show c.665-10035_665-10034insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59622981	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	250	0.0040	29	c.118 others(48): Show c.118+17869_118+17870insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(22): Show TTCTTTCTTTCTTTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03579.hp1 HG03579.hp2 HG01192.hp2 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0109 a0001c0001t0001g0165 a0001c0001t0001g0088 a0001c0001t0001g0109 a0001c0001t0001g0165	3	250	0.0120	29	c.118 others(48): Show c.118+30018_118+30019insCTTTCTTTCTTTTTCTTTCTTTCTTT CCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59847963	T T	TGCAAACA others(22): Show TGCAAACACTGTTAAAGAAAGGAAATTTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02886.hp1 HG02886.hp2 others(5): Show HG01884.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03195.hp1 HG03486.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0012 a0001c0001t0001g0088 a0001c0001t0003g0048 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0088 a0001c0001t0003g0048 a0001c0001t0004g0197 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0007g0089 a0001c0001t0007g0114	8	250	0.0320	29	c.83 others(38): Show c.833_*834insGCAAACACTGTTAAAGAAAGGAAATTTAC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding		253		chr20	TogoVar
PHAX_chr5_126595947_126632252	126609095	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	382	0.0026	29	c.831 others(44): Show c.831+634_831+635insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PHAX	ENSG00000164902.14	transcript	ENST00000297540.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
PHC3_chr3_170082584_170186733	170163883	A A	AAAAAAAG others(22): Show AAAAAAAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp1 HG01433.hp1 HG02055.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0027 a0003c0005t0028 a0003c0005t0027 a0003c0005t0028	a0003c0005t0027g0324 a0003c0005t0028g0325 a0003c0005t0027g0324 a0003c0005t0028g0325	2	332	0.0060	29	c.414 others(46): Show c.414+7489_414+7490insGCCTGCCTGCCTGCCTGCCTGCCTTTTT T	PHC3	ENSG00000173889.16	transcript	ENST00000495893.7	protein_coding	4/14			chr3	TogoVar
PHETA1_chr12_111355679_111374095	111358247	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG03579.hp1 HG01109.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0030 a0001c0001t0006g0013 a0001c0001t0006g0030	2	380	0.0053	29	c.44 others(40): Show c.4430_*4431insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PHETA1	ENSG00000198324.14	transcript	ENST00000683047.1	protein_coding		2431		chr12	TogoVar
PHEX_chrX_22027325_22256310	22249455	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0120 a0001c0001t0094g0120	1	231	0.0043	29	c.15 others(40): Show c.1503_*1504insAAAAAAAAATATATATATATATATATATA	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22	1504	INFO_REALIGN_3_PRIME	chrX	TogoVar
PHF11_chr13_49490953_49533976	49518597	T T	TTAATCCT others(22): Show TTAATCCTCATAATAGTCAACTGAGGTAGA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	414	0.0024	29	c.458 others(44): Show c.458+449_458+477dupATCCTCATAATAGTCAACTGAGGTAGATA	PHF11	ENSG00000136147.18	transcript	ENST00000378319.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
PHF14_chr7_10968872_11174618	10985636	C C	CCGGTTTT others(22): Show CCGGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	298	0.0034	29	c.900 others(46): Show c.900+2477_900+2478insCGGTTTTTTTTTTTTTTTTTTTTTTTTT T	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	3/17			chr7	TogoVar

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