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
OXSR1_chr3_38160537_38260484	38162153	GTATATTT others(27): Show GTATATTTCATATATTATAGATTTCATATATATTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02698.hp1 HG03195.hp1 others(1): Show HG01952.hp1 HG02698.hp1 HG03195.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0001t0001 a0001c0001t0003 a0001c0001t0020	a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0003g0143 others(1): Show a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0003g0143 a0001c0001t0020g0042	4	248	0.0161	-34	c.-37 others(45): Show c.-3723_-3690delTATATTTCATATATTATAGATTTCATATATATTA	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3383		chr3	TogoVar
OXSR1_chr3_38160537_38260484	38259441	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02630.hp1 others(7): Show HG01884.hp2 HG02280.hp1 HG02630.hp1 HG02630.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03579.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0001 a0002c0002t0007 others(1): Show a0001c0001t0008 a0002c0002t0001 a0002c0002t0007 a0002c0002t0015	a0001c0001t0008g0016 a0001c0001t0008g0018 a0002c0002t0001g0015 others(7): Show a0001c0001t0008g0016 a0001c0001t0008g0018 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0007g0040 a0002c0002t0007g0179 a0002c0002t0007g0180 a0002c0002t0015g0010	10	248	0.0403	-34	c.65 others(45): Show c.6551_*6584delATATATATATATATATATATATATATATATATAT	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3958		chr3	TogoVar
OXTR_chr3_8745381_8774613	8773232	CTATATAA others(27): Show CTATATAATCTATATATATCTATATAATCTATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG03579.hp1 HG01891.hp1 HG02257.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0009 a0001c0002t0026 a0001c0004t0028 a0001c0002t0009 a0001c0002t0026 a0001c0004t0028	a0001c0002t0009g0010 a0001c0002t0026g0053 a0001c0004t0028g0274 a0001c0002t0009g0010 a0001c0002t0026g0053 a0001c0004t0028g0274	3	474	0.0063	-34	c.-42 others(45): Show c.-4274_-4241delTATATAGATTATATAGATATATATAGATTATATA	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3620		chr3	TogoVar
P2RY2_chr11_73213281_73247427	73246897	GTGTTAAT others(27): Show GTGTTAATCAACTATTTATATTTTCGGTAAGGCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	416	0.0024	-34	c.11 others(47): Show c.11605_*11638delTGTTAATCAACTATTTATATTTTCGGTAAGGC TT	P2RY2	ENSG00000175591.12	transcript	ENST00000393597.7	protein_coding		4471		chr11	TogoVar
P2RY8_chrX_1457581_1542185	1532442	TATGTATA others(27): Show TATGTATATGTGTATATATACACATATATGTATAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(103): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02897.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19006.hp1 NA19012.hp1 NA19056.hp1 NA19068.hp1 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0003c0013 a0004c0012 a0005c0006 a0006c0008 a0007c0009 a0008c0010 a0009c0011 a0010c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0009 a0001c0004t0010 a0001c0004t0020 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0002t0021 a0002c0002t0027 a0002c0005t0006 a0002c0005t0017 a0003c0013t0001 a0004c0012t0013 a0005c0006t0001 a0006c0008t0005 a0007c0009t0032 a0008c0010t0001 a0009c0011t0018 a0010c0007t0015	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(103): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0002g0050 a0001c0001t0002g0060 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0006g0018 a0001c0001t0006g0029 a0001c0001t0007g0009 a0001c0001t0007g0038 a0001c0001t0007g0074 a0001c0001t0008g0020 a0001c0001t0008g0061 a0001c0001t0008g0099 a0001c0001t0014g0052 a0001c0001t0016g0102 a0001c0001t0019g0034 a0001c0001t0022g0027 a0001c0001t0023g0059 a0001c0001t0024g0070 a0001c0001t0025g0110 a0001c0001t0026g0044 a0001c0001t0028g0089 a0001c0001t0029g0054 a0001c0001t0033g0113 a0001c0001t0034g0114 a0001c0003t0001g0048 a0001c0003t0003g0030 a0001c0003t0003g0041 a0001c0003t0003g0068 a0001c0003t0005g0031 a0001c0004t0009g0032 a0001c0004t0010g0049 a0001c0004t0010g0111 a0001c0004t0020g0017 a0002c0002t0001g0028 a0002c0002t0004g0008 a0002c0002t0004g0019 a0002c0002t0004g0035 a0002c0002t0006g0067 a0002c0002t0009g0006 a0002c0002t0021g0021 a0002c0002t0027g0100 a0002c0005t0006g0058 a0002c0005t0017g0062 a0003c0013t0001g0108 a0004c0012t0013g0093 a0005c0006t0001g0036 a0006c0008t0005g0051 a0007c0009t0032g0004 a0008c0010t0001g0096 a0009c0011t0018g0085 a0010c0007t0015g0015	106	114	0.9298	-34	c.-25 others(51): Show c.-25+4445_-25+4478delCTATACATATATGTGTATATATACACAT ATACAT	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1533541	TTATATAT others(27): Show TTATATATTATATACTTATATATTTATTATTTAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG02273.hp2 HG00099.hp2 HG00639.hp1 HG02273.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0030 a0002c0002t0004 a0001c0001t0002 a0001c0001t0030 a0002c0002t0004	a0001c0001t0002g0014 a0001c0001t0030g0013 a0002c0002t0004g0024 a0001c0001t0002g0014 a0001c0001t0030g0013 a0002c0002t0004g0024	3	114	0.0263	-34	c.-25 others(51): Show c.-25+3346_-25+3379delTTTAAATAATAAATATATAAGTATATAA TATATA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	190095303	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	304	0.0033	-34	c.480 others(53): Show c.480+24915_480+24948delATATATATATATATATATATATATAT ATATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
PABPC1L2A_chrX_73072276_73084512	73080654	CTGGTCCA others(27): Show CTGGTCCAGAGCCAGGCGCTTGTTTATTCTTGACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	274	0.0037	-34	c.-13 others(45): Show c.-1302_-1269delAGTCAAGAATAAACAAGCGCCTGGCTCTGGACCA	PABPC1L2A	ENSG00000186288.5	transcript	ENST00000373519.1	protein_coding		1143		chrX	TogoVar
PADI4_chr1_17303197_17369004	17352070	GAAGAGAG others(27): Show GAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0256 a0001c0005t0001g0256	1	372	0.0027	-34	c.115 others(53): Show c.1156-2461_1156-2428delAGAGAGGCAGTCAGGGAGGTGATGGG AGGTGGTA	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352139	AGTAGGAG others(27): Show AGTAGGAGAGGCAATCAGGGAGGTGATGAGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03834.hp2 HG02735.hp1 HG03834.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0001 a0007c0014t0001 a0001c0001t0001 a0007c0014t0001	a0001c0001t0001g0134 a0007c0014t0001g0033 a0001c0001t0001g0134 a0007c0014t0001g0033	2	372	0.0054	-34	c.115 others(53): Show c.1156-2382_1156-2349delAATCAGGGAGGTGATGAGAGGTGGTA GGAGAGGC	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352184	CGGTCAGG others(27): Show CGGTCAGGGAGGAGATGGGAGGTGGTAAGAGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00642.hp1 others(14): Show HG00140.hp1 HG00438.hp1 HG00642.hp1 HG01099.hp2 HG01261.hp1 HG01884.hp2 HG02055.hp1 HG02451.hp2 HG02630.hp2 HG02896.hp2 HG02976.hp2 NA18947.hp2 NA18954.hp1 NA18997.hp2 NA19055.hp2 NA19086.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0015	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0010 a0003c0003 a0006c0007 a0015c0023	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0002c0002t0001 a0002c0010t0001 a0003c0003t0001 a0006c0007t0001 a0015c0023t0001	a0001c0001t0001g0025 a0001c0001t0001g0101 a0001c0001t0005g0053 others(14): Show a0001c0001t0001g0025 a0001c0001t0001g0101 a0001c0001t0005g0053 a0001c0005t0001g0347 a0001c0005t0001g0350 a0001c0005t0001g0352 a0002c0002t0001g0047 a0002c0002t0001g0155 a0002c0002t0001g0161 a0002c0002t0001g0249 a0002c0002t0001g0321 a0002c0002t0001g0357 a0002c0010t0001g0342 a0003c0003t0001g0182 a0003c0003t0001g0185 a0006c0007t0001g0367 a0015c0023t0001g0264	17	372	0.0457	-34	c.115 others(53): Show c.1156-2339_1156-2306delGGAGATGGGAGGTGGTAAGAGGGGTG GTCAGGGA	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352194	GGAGATGG others(27): Show GGAGATGGGAGGTGGTAAGAGGGGTGGTCAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02895.hp1 HG03516.hp1 HG00642.hp2 HG02895.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0015 a0001c0001 a0002c0015	a0001c0001t0001 a0002c0015t0001 a0001c0001t0001 a0002c0015t0001	a0001c0001t0001g0020 a0001c0001t0001g0336 a0002c0015t0001g0307 a0001c0001t0001g0020 a0001c0001t0001g0336 a0002c0015t0001g0307	3	372	0.0081	-34	c.115 others(53): Show c.1156-2322_1156-2289delAGAGGGGTGGTCAGGGAAGAGATGGG AGGTGGTA	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352215	GGGTGGTC others(27): Show GGGTGGTCAGGGAAGAGATGGGAGGTGGTAGCAGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02109.hp1 HG02258.hp1 others(10): Show HG00438.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03453.hp1 NA18941.hp1 NA18975.hp2 NA19005.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0010	a0001c0001 a0001c0005 a0001c0011 others(6): Show a0001c0001 a0001c0005 a0001c0011 a0002c0002 a0002c0004 a0004c0006 a0005c0008 a0006c0007 a0010c0028	a0001c0001t0001 a0001c0005t0001 a0001c0011t0001 others(6): Show a0001c0001t0001 a0001c0005t0001 a0001c0011t0001 a0002c0002t0001 a0002c0004t0001 a0004c0006t0001 a0005c0008t0001 a0006c0007t0001 a0010c0028t0002	a0001c0001t0001g0108 a0001c0001t0001g0334 a0001c0001t0001g0335 others(10): Show a0001c0001t0001g0108 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0005t0001g0256 a0001c0011t0001g0251 a0002c0002t0001g0135 a0002c0004t0001g0305 a0004c0006t0001g0358 a0005c0008t0001g0360 a0005c0008t0001g0361 a0005c0008t0001g0362 a0006c0007t0001g0366 a0010c0028t0002g0191	13	372	0.0350	-34	c.115 others(53): Show c.1156-2309_1156-2276delGGGAAGAGATGGGAGGTGGTAGCAGA GGTGGTCA	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352224	GGGAAGAG others(27): Show GGGAAGAGATGGGAGGTGGTAGCAGAGGTGGTCAA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19074.hp2 HG03516.hp2 NA19074.hp2	a0002 a0004 a0002 a0004	a0002c0010 a0004c0006 a0002c0010 a0004c0006	a0002c0010t0001 a0004c0006t0001 a0002c0010t0001 a0004c0006t0001	a0002c0010t0001g0165 a0004c0006t0001g0253 a0002c0010t0001g0165 a0004c0006t0001g0253	2	372	0.0054	-34	c.115 others(53): Show c.1156-2305_1156-2272delAGAGATGGGAGGTGGTAGCAGAGGTG GTCAAGGA	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAFAH1B2_chr11_117139287_117176045	117167153	AAGAGATC others(27): Show AAGAGATCTGGCTAAAGTATTTAGAGTAGTGGGCC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0205 a0001c0001t0103g0205	1	432	0.0023	-34	c.412 others(49): Show c.412-263_412-230delATCTGGCTAAAGTATTTAGAGTAGTGGGCC AGAG	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAIP2_chr5_139336854_139374717	139368481	ATTGTGCC others(27): Show ATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	344	0.0029	-34	c.319 others(49): Show c.319-251_319-218delTTGTGCCACTGCACTCCAGCCTGGGCGACA GAGC	PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding	3/3			chr5	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110035635	TTGTGTGT others(27): Show TTGTGTGTTATATATAACATATATAGGATATGTTG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0148 a0004c0005t0005g0148	1	222	0.0045	-34	c.582 others(53): Show c.582+19602_582+19635delGTTATATATAACATATATAGGATATG TTGTGTGT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99683054	AAGAGAGA others(27): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02165.hp2 NA18948.hp2 others(9): Show HG00673.hp1 HG02165.hp2 NA18948.hp2 NA18962.hp2 NA18970.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp2 NA19004.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0216 others(9): Show a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0216 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0291	12	380	0.0316	-34	c.252 others(51): Show c.252-3618_252-3585delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAM_chr5_102750305_103034716	102803144	AGAAAGGA others(27): Show AGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03486.hp1 HG02056.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0107 a0001c0002t0002g0013 a0001c0002t0002g0107	2	188	0.0106	-34	c.-37 others(55): Show c.-374+47797_-374+47830delGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGG	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25			chr5	TogoVar
PAPLN_chr14_73232506_73279623	73263953	GGCCCCCC others(27): Show GGCCCCCCGACCTCCTCTGACAGGTGTGTGTGACA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0057 a0002c0057	a0002c0057t0001 a0002c0057t0001	a0002c0057t0001g0395 a0002c0057t0001g0395	1	418	0.0024	-34	c.286 others(51): Show c.2861+196_2862-200delGTGTGTGACAGCCCCCCGACCTCCTCTG ACAGGT	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPSS2_chr10_87654878_87752705	87658819	ATTTGGGT others(27): Show ATTTGGGTTCGTTCAGAGGGTTGCCCCATACTGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(220): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19075.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0004 a0003c0006 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0002t0006 a0001c0002t0042 a0001c0003t0001 a0001c0003t0002 a0001c0011t0001 a0002c0004t0046 a0002c0004t0062 a0002c0004t0064 a0003c0006t0001 a0003c0006t0004 a0005c0012t0014	a0001c0001t0001g0152 a0001c0001t0001g0193 a0001c0001t0001g0194 others(220): Show a0001c0001t0001g0152 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0002g0170 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0002g0240 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0308 a0001c0001t0003g0174 a0001c0001t0003g0182 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0191 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0207 a0001c0001t0003g0243 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0274 a0001c0001t0003g0299 a0001c0001t0004g0168 a0001c0001t0004g0177 a0001c0001t0004g0179 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0232 a0001c0001t0004g0242 a0001c0001t0004g0247 a0001c0001t0004g0269 a0001c0001t0004g0279 a0001c0001t0004g0316 a0001c0001t0005g0211 a0001c0001t0005g0224 a0001c0001t0005g0320 a0001c0001t0005g0322 a0001c0001t0005g0328 a0001c0001t0005g0334 a0001c0001t0005g0336 a0001c0001t0005g0337 a0001c0001t0005g0351 a0001c0001t0005g0353 a0001c0001t0005g0354 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0005g0362 a0001c0001t0005g0364 a0001c0001t0005g0365 a0001c0001t0005g0367 a0001c0001t0005g0369 a0001c0001t0006g0201 a0001c0001t0006g0284 a0001c0001t0006g0286 a0001c0001t0006g0287 a0001c0001t0006g0288 a0001c0001t0007g0034 a0001c0001t0007g0210 a0001c0001t0007g0311 a0001c0001t0007g0312 a0001c0001t0007g0319 a0001c0001t0007g0329 a0001c0001t0007g0333 a0001c0001t0007g0335 a0001c0001t0007g0341 a0001c0001t0007g0344 a0001c0001t0007g0349 a0001c0001t0007g0356 a0001c0001t0007g0368 a0001c0001t0008g0318 a0001c0001t0008g0321 a0001c0001t0008g0324 a0001c0001t0008g0330 a0001c0001t0008g0331 a0001c0001t0008g0332 a0001c0001t0008g0338 a0001c0001t0008g0350 a0001c0001t0008g0357 a0001c0001t0008g0358 a0001c0001t0008g0359 a0001c0001t0009g0155 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0215 a0001c0001t0009g0216 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0009g0220 a0001c0001t0009g0221 a0001c0001t0009g0222 a0001c0001t0011g0226 a0001c0001t0011g0256 a0001c0001t0011g0257 a0001c0001t0011g0263 a0001c0001t0011g0264 a0001c0001t0011g0307 a0001c0001t0012g0180 a0001c0001t0012g0189 a0001c0001t0012g0249 a0001c0001t0012g0302 a0001c0001t0012g0304 a0001c0001t0012g0309 a0001c0001t0013g0272 a0001c0001t0013g0275 a0001c0001t0013g0282 a0001c0001t0014g0233 a0001c0001t0014g0235 a0001c0001t0014g0236 a0001c0001t0014g0238 a0001c0001t0015g0019 a0001c0001t0015g0342 a0001c0001t0015g0352 a0001c0001t0015g0355 a0001c0001t0015g0366 a0001c0001t0016g0244 a0001c0001t0017g0192 a0001c0001t0017g0239 a0001c0001t0018g0223 a0001c0001t0018g0339 a0001c0001t0018g0340 a0001c0001t0019g0163 a0001c0001t0019g0165 a0001c0001t0019g0166 a0001c0001t0020g0157 a0001c0001t0020g0160 a0001c0001t0020g0164 a0001c0001t0021g0370 a0001c0001t0021g0371 a0001c0001t0021g0372 a0001c0001t0023g0173 a0001c0001t0023g0266 a0001c0001t0024g0228 a0001c0001t0025g0305 a0001c0001t0025g0306 a0001c0001t0026g0313 a0001c0001t0026g0314 a0001c0001t0030g0303 a0001c0001t0032g0208 a0001c0001t0034g0298 a0001c0001t0036g0317 a0001c0001t0037g0289 a0001c0001t0038g0315 a0001c0001t0039g0040 a0001c0001t0040g0343 a0001c0001t0041g0310 a0001c0001t0044g0237 a0001c0001t0045g0001 a0001c0001t0047g0161 a0001c0001t0048g0158 a0001c0001t0049g0156 a0001c0001t0050g0167 a0001c0001t0051g0162 a0001c0001t0052g0159 a0001c0001t0053g0327 a0001c0001t0054g0345 a0001c0001t0055g0348 a0001c0001t0056g0347 a0001c0001t0057g0154 a0001c0001t0058g0326 a0001c0001t0059g0214 a0001c0001t0060g0153 a0001c0001t0061g0217 a0001c0001t0063g0325 a0001c0002t0006g0178 a0001c0002t0006g0183 a0001c0002t0006g0184 a0001c0002t0006g0190 a0001c0002t0006g0209 a0001c0002t0042g0363 a0001c0003t0001g0169 a0001c0003t0002g0171 a0001c0003t0002g0185 a0001c0003t0002g0246 a0001c0003t0002g0259 a0001c0011t0001g0198 a0002c0004t0046g0234 a0002c0004t0062g0323 a0002c0004t0064g0172 a0003c0006t0001g0254 a0003c0006t0004g0229 a0005c0012t0014g0227	223	372	0.5995	-34	c.-11 others(45): Show c.-1162_-1129delTTTGGGTTCGTTCAGAGGGTTGCCCCATACTGCC	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding		1058		chr10	TogoVar
PAQR3_chr4_78906878_78944438	78942090	CTTATAGG others(27): Show CTTATAGGAGGTTCCTTCTGCACGTATTTCTTGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0060 a0001c0004t0020g0060	1	334	0.0030	-34	c.-29 others(45): Show c.-2900_-2867delAGCAAGAAATACGTGCAGAAGGAACCTCCTATAA	PAQR3	ENSG00000163291.14	transcript	ENST00000512733.5	protein_coding		2653		chr4	TogoVar
PAQR5_chr15_69293912_69412780	69300935	CTCTCTTT others(27): Show CTCTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02630.hp1 others(3): Show HG02145.hp1 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG03195.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 others(3): Show a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0242 a0001c0001t0002g0243 a0002c0002t0001g0127	6	284	0.0211	-34	c.-27 others(53): Show c.-277+1883_-277+1916delCTTTCTTTCCTTCTTTCTTTCTTTCT TTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69382777	CATATATA others(27): Show CATATATATATATATATATATGACCATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0251 a0001c0001t0006g0251	1	284	0.0035	-34	c.180 others(51): Show c.180-1879_180-1846delGACCATATATATATATATATATATATAT ATATAT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARP2_chr14_20338635_20362904	20347348	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0205	1	420	0.0024	-34	c.324 others(49): Show c.324+437_324+470delGTGTGTGTATATATATATATATATATATAT ATAT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP2_chr14_20338635_20362904	20347372	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01928.hp1 HG01934.hp1 others(23): Show HG00280.hp2 HG01928.hp1 HG01934.hp1 HG02129.hp2 HG02132.hp2 HG02698.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 NA18947.hp2 NA18956.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18977.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18988.hp2 NA19000.hp1 NA19009.hp2 NA19075.hp2 NA19090.hp2	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0002 a0006c0009 others(1): Show a0001c0001 a0001c0002 a0006c0009 a0010c0016	a0001c0001t0002 a0001c0002t0002 a0006c0009t0002 others(1): Show a0001c0001t0002 a0001c0002t0002 a0006c0009t0002 a0010c0016t0002	a0001c0001t0002g0002 a0001c0001t0002g0073 a0001c0001t0002g0074 others(11): Show a0001c0001t0002g0002 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0002t0002g0002 a0001c0002t0002g0023 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0006c0009t0002g0002 a0010c0016t0002g0002	26	420	0.0619	-34	c.324 others(49): Show c.324+461_324+494delATATATATATATATATATATATATATTTTT TTTT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARVB_chr22_44019302_44177939	44021759	TCACACAC others(27): Show TCACACACACACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0013 a0001c0007t0013	a0001c0007t0013g0088 a0001c0007t0013g0088	1	332	0.0030	-34	c.-25 others(45): Show c.-2580_-2547delCACACACACACACACACACACACACACACACACA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding		2542		chr22	TogoVar
PASK_chr2_241101099_241154472	241116126	ACACCAGG others(27): Show ACACCAGGGCCACCCAGTCCTCAAGCATCCCATTC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG02965.hp2 others(4): Show HG01891.hp1 HG02486.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2	a0004 a0005 a0011 a0004 a0005 a0011	a0004c0026 a0004c0057 a0005c0028 others(2): Show a0004c0026 a0004c0057 a0005c0028 a0011c0063 a0011c0066	a0004c0026t0008 a0004c0057t0013 a0005c0028t0006 others(2): Show a0004c0026t0008 a0004c0057t0013 a0005c0028t0006 a0011c0063t0008 a0011c0066t0006	a0004c0026t0008g0123 a0004c0026t0008g0124 a0004c0057t0013g0032 others(4): Show a0004c0026t0008g0123 a0004c0026t0008g0124 a0004c0057t0013g0032 a0005c0028t0006g0275 a0005c0028t0006g0276 a0011c0063t0008g0044 a0011c0066t0006g0242	7	376	0.0186	-34	c.307 others(51): Show c.3073-747_3073-714delGAATGGGATGCTTGAGGACTGGGTGGCC CTGGTG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PATJ_chr1_61737480_62168915	61796684	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0051 a0051	a0051c0066 a0051c0066	a0051c0066t0001 a0051c0066t0001	a0051c0066t0001g0131 a0051c0066t0001g0131	1	158	0.0063	-34	c.126 others(51): Show c.1261-601_1261-568delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	10/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61813348	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0033 a0033	a0033c0132 a0033c0132	a0033c0132t0003 a0033c0132t0003	a0033c0132t0003g0027 a0033c0132t0003g0027	1	158	0.0063	-34	c.168 others(53): Show c.1683+4820_1683+4853delTATATATATATATATATATATATATA TATACACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62024657	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG03471.hp1 HG02922.hp1 HG02965.hp2 HG03471.hp1	a0040 a0051 a0052 a0040 a0051 a0052	a0040c0035 a0051c0066 a0052c0111 a0040c0035 a0051c0066 a0052c0111	a0040c0035t0022 a0051c0066t0001 a0052c0111t0021 a0040c0035t0022 a0051c0066t0001 a0052c0111t0021	a0040c0035t0022g0117 a0051c0066t0001g0131 a0052c0111t0021g0073 a0040c0035t0022g0117 a0051c0066t0001g0131 a0052c0111t0021g0073	3	158	0.0190	-34	c.395 others(53): Show c.3959+6736_3959+6769delCACACACACACACACACACACACACA CACACACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAWR_chr12_79579879_79695964	79613957	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0056 a0001c0001t0026g0056	1	256	0.0039	-34	c.649 others(49): Show c.649-382_649-349delAAAAAAAAAAAATATATATATATATATATA TATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613959	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	256	0.0039	-34	c.649 others(49): Show c.649-384_649-351delAAAAAAAAAAAAAATATATATATATATATA TATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613961	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19060.hp1 HG02071.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0001 a0001c0003t0003 a0002c0002t0001	a0001c0003t0003g0085 a0002c0002t0001g0205 a0001c0003t0003g0085 a0002c0002t0001g0205	2	256	0.0078	-34	c.649 others(49): Show c.649-386_649-353delAAAAAAAAAAAAAAAATATATATATATATA TATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAXBP1_chr21_32728899_32776755	32771915	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	360	0.0028	-34	c.-28 others(43): Show c.-281_-248delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		161		chr21	TogoVar
PBX3_chr9_125742373_125972377	125899328	AATATATA others(27): Show AATATATACATATATGTATATATTTTTATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	294	0.0034	-34	c.275 others(53): Show c.275-16352_275-16319delTACATATATGTATATATTTTTATATA AATATATA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45943932	TGAACACT others(27): Show TGAACACTTCAGGTGGGGGGAGCACTCCAGGTGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00673.hp1 others(40): Show HG00280.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01255.hp2 HG01261.hp2 HG01515.hp2 HG01934.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03491.hp1 HG03540.hp2 HG03688.hp1 HG03710.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 NA18941.hp1 NA18943.hp1 NA18955.hp1 NA18955.hp2 NA18963.hp1 NA18967.hp2 NA18982.hp1 NA19007.hp1 NA19064.hp1 NA19081.hp1 NA19091.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0004c0007t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(40): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0204 a0001c0001t0002g0034 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0107 a0001c0001t0002g0225 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0262 a0001c0001t0002g0267 a0001c0001t0002g0287 a0001c0001t0008g0113 a0001c0001t0013g0180 a0004c0007t0001g0137	43	292	0.1473	-34	c.22 others(45): Show c.2227_*2260delGAACACTTCAGGTGGGGGGAGCACTCCAGGTGAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding		1483		chr21	TogoVar
PCBP3_chr21_45638725_45947450	45944030	GTGAGGAA others(27): Show GTGAGGAACACCTCAGGTGCGGGGAGCACTCCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02818.hp2 NA19043.hp2 others(1): Show HG02145.hp2 HG02818.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0104 a0001c0001t0003g0105 others(1): Show a0001c0001t0003g0094 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106	4	292	0.0137	-34	c.23 others(45): Show c.2325_*2358delTGAGGAACACCTCAGGTGCGGGGAGCACTCCAGA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding		1581		chr21	TogoVar
PCBP3_chr21_45638725_45947450	45944093	CCCAGGTG others(27): Show CCCAGGTGAGGAACACTTCAGGTGGGGGGAGCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	292	0.0034	-34	c.23 others(45): Show c.2388_*2421delCCAGGTGAGGAACACTTCAGGTGGGGGGAGCACT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding		1644		chr21	TogoVar
PCCA_chr13_100084093_100535435	100440156	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	174	0.0058	-34	c.184 others(53): Show c.1846-9075_1846-9042delTATATATATATATATATATATATATA TATATATA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH11X_chrX_91774375_92628230	92132641	ATATATAT others(27): Show ATATATATATATATATGTATATATATATGTATATG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0004 a0001c0002t0008g0004	1	154	0.0065	-34	c.303 others(55): Show c.3034-68722_3034-68689delATATGTATATATATATGTATATGT ATATATATAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5637921	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	115	0.0087	-34	c.307 others(55): Show c.3076+56143_3076+56176delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	5/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH15_chr10_53797771_54806231	53851671	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG03130.hp1 others(3): Show HG02622.hp1 HG02886.hp1 HG03130.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp2	a0002 a0005 a0018 others(2): Show a0002 a0005 a0018 a0025 a0028	a0002c0002 a0005c0005 a0018c0037 others(2): Show a0002c0002 a0005c0005 a0018c0037 a0025c0030 a0028c0034	a0002c0002t0004 a0005c0005t0004 a0018c0037t0013 others(2): Show a0002c0002t0004 a0005c0005t0004 a0018c0037t0013 a0025c0030t0018 a0028c0034t0013	a0002c0002t0004g0077 a0002c0002t0004g0097 a0005c0005t0004g0076 others(3): Show a0002c0002t0004g0077 a0002c0002t0004g0097 a0005c0005t0004g0076 a0018c0037t0013g0062 a0025c0030t0018g0007 a0028c0034t0013g0058	6	102	0.0588	-34	c.380 others(53): Show c.3806+5470_3806+5503delATATATATATATATATATATATATAT ATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54442414	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp2 HG03540.hp2 others(1): Show HG02145.hp2 HG02886.hp2 HG03540.hp2 HG03579.hp2	a0001 a0022 a0027 others(1): Show a0001 a0022 a0027 a0030	a0001c0001 a0022c0028 a0027c0031 others(1): Show a0001c0001 a0022c0028 a0027c0031 a0030c0036	a0001c0001t0001 a0022c0028t0004 a0027c0031t0010 others(1): Show a0001c0001t0001 a0022c0028t0004 a0027c0031t0010 a0030c0036t0004	a0001c0001t0001g0101 a0022c0028t0004g0013 a0027c0031t0010g0066 others(1): Show a0001c0001t0001g0101 a0022c0028t0004g0013 a0027c0031t0010g0066 a0030c0036t0004g0061	4	102	0.0392	-34	c.158 others(53): Show c.158-63506_158-63473delTATATATATATATATATATATATATA TATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53851671	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp1 HG03471.hp2 others(2): Show HG02622.hp2 HG03130.hp1 HG03471.hp2 HG03579.hp1 HG06807.hp1	a0002 a0005 a0016 others(1): Show a0002 a0005 a0016 a0021	a0002c0002 a0005c0009 a0016c0043 others(1): Show a0002c0002 a0005c0009 a0016c0043 a0021c0038	a0002c0002t0002 a0005c0009t0002 a0016c0043t0004 others(1): Show a0002c0002t0002 a0005c0009t0002 a0016c0043t0004 a0021c0038t0004	a0002c0002t0002g0071 a0002c0002t0002g0089 a0005c0009t0002g0070 others(2): Show a0002c0002t0002g0071 a0002c0002t0002g0089 a0005c0009t0002g0070 a0016c0043t0004g0058 a0021c0038t0004g0007	5	94	0.0532	-34	c.380 others(53): Show c.3806+5470_3806+5503delATATATATATATATATATATATATAT ATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	28/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54442414	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03540.hp2 HG03579.hp2 HG02145.hp1 HG03540.hp2 HG03579.hp2	a0018 a0022 a0025 a0018 a0022 a0025	a0018c0034 a0022c0039 a0025c0041 a0018c0034 a0022c0039 a0025c0041	a0018c0034t0003 a0022c0039t0001 a0025c0041t0002 a0018c0034t0003 a0022c0039t0001 a0025c0041t0002	a0018c0034t0003g0013 a0022c0039t0001g0093 a0025c0041t0002g0057 a0018c0034t0003g0013 a0022c0039t0001g0093 a0025c0041t0002g0057	3	94	0.0319	-34	c.158 others(53): Show c.158-63506_158-63473delTATATATATATATATATATATATATA TATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	3/32			chr10	TogoVar
PCDH1_chr5_141848090_141883410	141876764	AACCCAGG others(27): Show AACCCAGGTGTGCGGGACCCACCAAGGTGTGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 homoSapiens_chm13v2.hp1 HG00738.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0208 a0001c0001t0001g0209	2	384	0.0052	-34	c.40+ others(49): Show c.40+1425_40+1458delCCCACACACCTTGGTGGGTCCCGCACACCT GGGT	PCDH1	ENSG00000156453.14	transcript	ENST00000287008.8	protein_coding	1/4			chr5	TogoVar
PCDH7_chr4_30715369_31151800	31079309	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG02647.hp2 others(4): Show HG01109.hp1 HG02647.hp1 HG02647.hp2 HG03041.hp1 HG03139.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 a0001c0001t0042 a0001c0003t0048 a0001c0004t0007	a0001c0001t0002g0200 a0001c0001t0006g0118 a0001c0001t0021g0107 others(4): Show a0001c0001t0002g0200 a0001c0001t0006g0118 a0001c0001t0021g0107 a0001c0001t0042g0117 a0001c0003t0048g0007 a0001c0004t0007g0016 a0001c0004t0007g0021	7	214	0.0327	-34	c.339 others(55): Show c.3392-63142_3392-63109delTATATATATATATATATATATATA TATATATATA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31097587	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0046 a0001c0001t0024g0046	1	214	0.0047	-34	c.339 others(55): Show c.3392-44868_3392-44835delTATATATATATATATATATATATA TATATATATA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDHGA10_chr5_141407987_141517975	141438609	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp1 HG02559.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0070 a0001c0001t0001g0071	2	306	0.0065	-34	c.243 others(55): Show c.2436+23000_2436+23033delTATATATATATATATATATATATA TACACACACA	PCDHGA10	ENSG00000253846.3	transcript	ENST00000398610.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar

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