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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PACS2_chr14_105309748_105403147	105327795	ACTCACCG others(87): Show ACTCACCGGCCCAGGCCACCCGAGGGGCCATTGACAACTGAGCCTTGGCT CACCGGCCCAGGCCACCCGATGGACCATTGACAGCCGAGCCTTGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	210	0.0048	-94	c.119 others(113): Show c.119+12828_119+12921delTGGACCATTGACAGCCGAGCCTTGGC TCACCGGCCCAGGCCACCCGAGGGGCCATTGACAACTGAGCCTTGGCTCA CCGGCCCAGGCCACCCGA	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPPA_chr9_116148791_116407321	116289194	TAGCATAT others(87): Show TAGCATATATATATAGCATATATGTAGCATATATATATAGCATATATATA TAGCATATATGTAGCATATATATATAGCATATATATAGCATATAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	234	0.0043	-94	c.295 others(115): Show c.2954-13561_2954-13468delGCATATATATATAGCATATATGTA GCATATATATATAGCATATATATATAGCATATATGTAGCATATATATATA GCATATATATAGCATATAAA	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAQR5_chr15_69293912_69412780	69300630	TTTCTTTC others(87): Show TTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCATTCTTTCTCTTC CTTCCTCCCTCCCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	284	0.0035	-94	c.-27 others(113): Show c.-277+1577_-277+1670delCTTTCTTTCTTTCTTTCTTTTCTTTC TTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTCTTTC TTTCTTTCTTTCTTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3_chr10_34104561_34820296	34605630	ATATATAT others(87): Show ATATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATATA TATATATCTCCTATATATATATATCTCCTATATATATATATCTCC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0026 a0001c0011t0002g0026	1	100	0.0100	-94	c.223 others(113): Show c.223-88565_223-88472delGGAGATATATATATATAGGAGATATA TATATATAGGAGATATATATATATAGGAGATATATATATAGGAGATATAT ATATATAGGAGATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41402291	ATATATAT others(87): Show ATATATATACACACAGTGTGTATATATATATACACACACTGTGTGTATAT ATATATATACACACAGTGTGTATATATATATATACACACACTGTG	A A	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0109 a0004c0003t0001g0109	1	206	0.0049	-94	c.844 others(115): Show c.844-104156_844-104063delCACACAGTGTGTATATATATATAC ACACACTGTGTGTATATATATATATACACACAGTGTGTATATATATATAT ACACACACTGTGTATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PERM1_chr1_970198_987093	976907	CCAACCCC others(87): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0004 a0003c0022t0004	a0003c0022t0004g0077 a0003c0022t0004g0077	1	408	0.0025	-94	c.215 others(111): Show c.2150-377_2150-284delCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977190	CACCAACC others(87): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG01358.hp2 others(17): Show HG00408.hp2 HG00673.hp2 HG01358.hp2 HG01943.hp1 HG02155.hp2 HG03130.hp2 HG03209.hp1 NA18954.hp1 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18998.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19059.hp1 NA19068.hp1 NA19079.hp2 NA19081.hp2 NA19240.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0009	a0001c0001 a0004c0004 a0004c0021 others(2): Show a0001c0001 a0004c0004 a0004c0021 a0008c0012 a0009c0014	a0001c0001t0001 a0001c0001t0012 a0004c0004t0002 others(4): Show a0001c0001t0001 a0001c0001t0012 a0004c0004t0002 a0004c0021t0002 a0008c0012t0002 a0008c0012t0016 a0009c0014t0002	a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0012g0113 others(7): Show a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0012g0113 a0004c0004t0002g0004 a0004c0004t0002g0042 a0004c0004t0002g0192 a0004c0021t0002g0084 a0008c0012t0002g0202 a0008c0012t0016g0201 a0009c0014t0002g0200	20	408	0.0490	-94	c.215 others(111): Show c.2150-660_2150-567delTCGGTGGGGGCAGGCGGTTCCCGGGGTT GGCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGAGGC GGTTCCCGGGGTTGGT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX26_chr22_18072990_18110396	18106848	CGTAGTTC others(87): Show CGTAGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATG TGGTTTCAGTCTGTCTGAAGGCTGAGACCCAGGAGAGCTGATGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0001 a0001c0001t0035g0001	1	398	0.0025	-94	c.18 others(107): Show c.18774_*18867delGTAGTTCCAGTCTGAGTCTGAAGCCTGAGACC CAGGAGAGCTGAAGATGTGGTTTCAGTCTGTCTGAAGGCTGAGACCCAGG AGAGCTGATGGT	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		1453		chr22	TogoVar
PEX5_chr12_7184686_7216459	7199806	TGGACGGG others(87): Show TGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCACCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(104): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18983.hp2 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA19005.hp2 NA19011.hp2 NA19043.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19078.hp1 NA19085.hp2 NA19086.hp1 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0002c0002t0004 a0002c0002t0005 a0003c0003t0004 a0004c0004t0003 a0004c0004t0005 a0007c0007t0003	a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0016 others(82): Show a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0016 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0210 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0298 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0011g0021 a0001c0001t0013g0187 a0001c0001t0017g0204 a0002c0002t0004g0326 a0002c0002t0005g0020 a0002c0002t0005g0045 a0002c0002t0005g0310 a0002c0002t0005g0312 a0002c0002t0005g0313 a0002c0002t0005g0314 a0002c0002t0005g0315 a0002c0002t0005g0316 a0002c0002t0005g0317 a0002c0002t0005g0318 a0002c0002t0005g0319 a0002c0002t0005g0320 a0002c0002t0005g0321 a0002c0002t0005g0322 a0002c0002t0005g0323 a0002c0002t0005g0324 a0003c0003t0004g0044 a0003c0003t0004g0293 a0003c0003t0004g0299 a0004c0004t0003g0309 a0004c0004t0005g0311 a0007c0007t0003g0197	107	428	0.2500	-94	c.551 others(109): Show c.551+740_551+833delCGGACGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCACCTCCCTCC	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3115289	GACAGGAC others(87): Show GACAGGACTGGGGATGCTGGGGTGAAAGTGTGTGTCCCACGGCGGAGGAC AGGACTGGGGATGCTGGAGTGAAGGTGTGTGTCCCGCAGCTGAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp1 HG02572.hp2 others(2): Show HG00639.hp2 HG02451.hp1 HG02572.hp2 HG02886.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0004t0004g0237 others(2): Show a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0004t0004g0237 a0001c0004t0004g0238 a0001c0004t0004g0359	5	402	0.0124	-94	c.137 others(113): Show c.1372-1470_1372-1377delTGGGGTGAAAGTGTGTGTCCCACGGC GGAGGACAGGACTGGGGATGCTGGAGTGAAGGTGTGTGTCCCGCAGCTGA GAACAGGACTGGGGATGC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3115331	CGGAGGAC others(87): Show CGGAGGACAGGACTGGGGATGCTGGAGTGAAGGTGTGTGTCCCGCAGCTG AGAACAGGACTGGGGATGCCGGGGTGAAGGTGTGTGTCCCGCCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(78): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00544.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01261.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG03491.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18955.hp1 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18994.hp2 NA18999.hp2 NA19007.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0001c0019 a0001c0027 a0001c0028 a0001c0043 a0001c0046 a0001c0068 a0007c0042	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(15): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0006t0001 a0001c0006t0007 a0001c0006t0012 a0001c0006t0013 a0001c0006t0021 a0001c0019t0003 a0001c0019t0004 a0001c0027t0005 a0001c0028t0007 a0001c0043t0002 a0001c0046t0003 a0001c0068t0006 a0007c0042t0002	a0001c0001t0002g0022 a0001c0001t0002g0052 a0001c0002t0002g0029 others(78): Show a0001c0001t0002g0022 a0001c0001t0002g0052 a0001c0002t0002g0029 a0001c0002t0002g0040 a0001c0002t0002g0044 a0001c0002t0002g0047 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0068 a0001c0002t0002g0076 a0001c0002t0002g0101 a0001c0002t0002g0104 a0001c0002t0002g0129 a0001c0002t0002g0138 a0001c0002t0002g0148 a0001c0002t0002g0154 a0001c0002t0002g0182 a0001c0002t0002g0185 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0210 a0001c0002t0002g0246 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0309 a0001c0002t0002g0336 a0001c0002t0002g0345 a0001c0002t0002g0347 a0001c0002t0002g0349 a0001c0002t0002g0374 a0001c0002t0002g0377 a0001c0002t0003g0078 a0001c0002t0003g0108 a0001c0002t0003g0140 a0001c0002t0003g0155 a0001c0002t0003g0314 a0001c0002t0004g0025 a0001c0002t0004g0102 a0001c0002t0004g0130 a0001c0002t0004g0184 a0001c0002t0004g0264 a0001c0002t0004g0283 a0001c0002t0004g0311 a0001c0002t0004g0318 a0001c0002t0004g0344 a0001c0002t0006g0128 a0001c0002t0006g0189 a0001c0002t0006g0227 a0001c0002t0006g0229 a0001c0002t0006g0271 a0001c0002t0006g0351 a0001c0006t0001g0008 a0001c0006t0001g0035 a0001c0006t0001g0048 a0001c0006t0001g0065 a0001c0006t0001g0095 a0001c0006t0001g0107 a0001c0006t0001g0115 a0001c0006t0001g0121 a0001c0006t0001g0197 a0001c0006t0001g0203 a0001c0006t0001g0218 a0001c0006t0001g0291 a0001c0006t0001g0327 a0001c0006t0001g0340 a0001c0006t0007g0082 a0001c0006t0007g0250 a0001c0006t0012g0118 a0001c0006t0013g0019 a0001c0006t0021g0144 a0001c0019t0003g0248 a0001c0019t0004g0083 a0001c0019t0004g0084 a0001c0027t0005g0030 a0001c0027t0005g0321 a0001c0028t0007g0214 a0001c0028t0007g0244 a0001c0043t0002g0371 a0001c0046t0003g0062 a0001c0068t0006g0346 a0007c0042t0002g0375	81	402	0.2015	-94	c.137 others(113): Show c.1372-1423_1372-1330delTGGAGTGAAGGTGTGTGTCCCGCAGC TGAGAACAGGACTGGGGATGCCGGGGTGAAGGTGTGTGTCCCGCCATGGA GGACAGGACTGGGGATGC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PID1_chr2_229018973_229276287	229139021	AAGAAAGA others(87): Show AAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	256	0.0039	-94	c.177 others(113): Show c.177+16703_177+16796delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT CTTTCTTTCTTTCTTTCT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229184626	ATATATAT others(87): Show ATATATATATATCCCGTATATATATATCCCGTATATATATATATCCCGTA TATATATATCCCGTATATATATATATCCCGTATATATATATCCCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	256	0.0039	-94	c.31- others(111): Show c.31-28756_31-28663delCGGGATATATATATACGGGATATATATA TATACGGGATATATATATACGGGATATATATATATACGGGATATATATAT ACGGGATATATATATA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229184658	ATATATAT others(87): Show ATATATATATATCCCGTATATATATATCCCGTATATATATATATCCCGTA TATATATATCCCGTATATATATATATCCCGTATATATATATCCCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02602.hp2 HG03834.hp1 others(8): Show HG00438.hp2 HG02602.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18947.hp2 NA18951.hp1 NA18967.hp1 NA18977.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0007	a0001c0001t0001g0078 a0001c0001t0001g0163 a0001c0001t0002g0008 others(8): Show a0001c0001t0001g0078 a0001c0001t0001g0163 a0001c0001t0002g0008 a0001c0001t0002g0102 a0001c0001t0002g0179 a0001c0001t0002g0188 a0001c0001t0003g0079 a0001c0001t0003g0117 a0001c0001t0003g0145 a0001c0002t0007g0214 a0001c0002t0007g0229	11	256	0.0430	-94	c.31- others(111): Show c.31-28788_31-28695delCGGGATATATATATACGGGATATATATA TATACGGGATATATATATACGGGATATATATATATACGGGATATATATAT ACGGGATATATATATA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PINX1_chr8_10759961_10844875	10833548	AGACGACT others(87): Show AGACGACTGGGGTGCGGGAGGCTGGAGAAGAGACGACTGGGGTGCGGGAG GCTGGAGAAGAATGACAACTGGGGTGCGGGAGGCTGGAGAAGAAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG02622.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0318 a0001c0001t0001g0130 a0001c0001t0001g0318	2	352	0.0057	-94	c.130 others(109): Show c.130-658_130-565delATTCTTCTCCAGCCTCCCGCACCCCAGTTG TCATTCTTCTCCAGCCTCCCGCACCCCAGTCGTCTCTTCTCCAGCCTCCC GCACCCCAGTCGTC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	2/6			chr8	TogoVar
PKD2L1_chr10_100283149_100335228	100314965	AGGAAGGA others(87): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0031 a0003c0011t0001g0031	1	306	0.0033	-94	c.349 others(113): Show c.349+14152_349+14245delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKP3_chr11_389209_409908	402043	CCCCCGGC others(87): Show CCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCC CGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19005.hp1 HG02027.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0066 a0001c0009t0001g0128 a0001c0001t0001g0066 a0001c0009t0001g0128	2	216	0.0093	-94	c.173 others(112): Show c.1738-1032_1738-939delCCGGCCCCGCTCACCCCCGGCTCCACT GACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCC CGCTCACCCCCGGCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402366	GGCTCCAC others(87): Show GGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGAC CCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0004 a0018c0026t0004	a0018c0026t0004g0092 a0018c0026t0004g0092	1	216	0.0046	-94	c.173 others(111): Show c.1738-711_1738-618delGCTCCACTGACCCCGGCCCCGCTCACCC CGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACT GACCCCGGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLD1_chr3_171595404_171815483	171764851	GAAAGAAA others(87): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG AAGGAAGGAAGGAAAGAAAGAAAGGAAAGAAAGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0257	1	294	0.0034	-94	c.-31 others(113): Show c.-31-26863_-31-26770delTTTCTTTCTTTCCTTTCTTTCCTTTC TTTCTTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171780097	TATACATA others(87): Show TATACATAAGTCTGAGATTCAGGAATGGGGTTTGGATATGTAAGTCTGAG ATTCAGGACTGGGGTTTAGATATTAATCTGAGGACTGGGGCTTGC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02257.hp2 HG02615.hp1 others(12): Show HG01433.hp2 HG02257.hp2 HG02615.hp1 HG02622.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0021 a0002c0003 a0001c0002 a0001c0021 a0002c0003	a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 others(3): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0002t0022 a0001c0021t0026 a0002c0003t0003	a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0115 others(12): Show a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0115 a0001c0002t0002g0209 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0004g0210 a0001c0002t0016g0269 a0001c0002t0022g0075 a0001c0021t0026g0082 a0002c0003t0003g0261	15	294	0.0510	-94	c.-32 others(113): Show c.-32+30208_-32+30301delGCAAGCCCCAGTCCTCAGATTAATAT CTAAACCCCAGTCCTGAATCTCAGACTTACATATCCAAACCCCATTCCTG AATCTCAGACTTATGTAT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLEKHG4B_chr5_87168_194966	164518	CAGTAATG others(87): Show CAGTAATGCTGTGACAGGGGGCGGAGCTCACACAGTAATGCTCTGACAGG GGGCGGAGCTCACACAGTAATGCTGTGACGGAGCGGAGCTCACAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG01515.hp1 others(3): Show HG01243.hp1 HG01256.hp1 HG01515.hp1 HG01928.hp1 HG02683.hp1 HG03098.hp2	a0003 a0035 a0003 a0035	a0003c0009 a0003c0056 a0035c0060 a0003c0009 a0003c0056 a0035c0060	a0003c0009t0017 a0003c0009t0119 a0003c0009t0121 others(2): Show a0003c0009t0017 a0003c0009t0119 a0003c0009t0121 a0003c0056t0017 a0035c0060t0020	a0003c0009t0017g0088 a0003c0009t0017g0093 a0003c0009t0119g0049 others(3): Show a0003c0009t0017g0088 a0003c0009t0017g0093 a0003c0009t0119g0049 a0003c0009t0121g0092 a0003c0056t0017g0080 a0035c0060t0020g0188	6	210	0.0286	-94	c.347 others(112): Show c.3476+971_3476+1064delAGTAATGCTGTGACAGGGGGCGGAGCT CACACAGTAATGCTCTGACAGGGGGCGGAGCTCACACAGTAATGCTGTGA CGGAGCGGAGCTCACAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PLEKHN1_chr1_961482_980865	976907	CCAACCCC others(87): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0004 a0003c0019t0004	a0003c0019t0004g0081 a0003c0019t0004g0081	1	422	0.0024	-94	c.23 others(105): Show c.2333_*2426delCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1043		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977190	CACCAACC others(87): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG01358.hp2 others(17): Show HG00408.hp1 HG00673.hp1 HG01358.hp2 HG01943.hp1 HG02155.hp1 HG03130.hp2 HG03209.hp1 NA18954.hp2 NA18963.hp2 NA18980.hp1 NA18998.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19068.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0016	a0001c0010 a0001c0012 a0001c0050 others(5): Show a0001c0010 a0001c0012 a0001c0050 a0002c0006 a0002c0008 a0002c0017 a0004c0004 a0016c0052	a0001c0010t0009 a0001c0010t0021 a0001c0012t0009 others(6): Show a0001c0010t0009 a0001c0010t0021 a0001c0012t0009 a0001c0050t0021 a0002c0006t0006 a0002c0008t0006 a0002c0017t0004 a0004c0004t0009 a0016c0052t0039	a0001c0010t0009g0153 a0001c0010t0021g0046 a0001c0012t0009g0012 others(12): Show a0001c0010t0009g0153 a0001c0010t0021g0046 a0001c0012t0009g0012 a0001c0050t0021g0046 a0002c0006t0006g0001 a0002c0006t0006g0005 a0002c0006t0006g0059 a0002c0006t0006g0067 a0002c0008t0006g0005 a0002c0008t0006g0027 a0002c0008t0006g0028 a0002c0008t0006g0029 a0002c0017t0004g0101 a0004c0004t0009g0108 a0016c0052t0039g0027	20	422	0.0474	-94	c.26 others(105): Show c.2616_*2709delACCAACCCCGGGAACCGCCTCCCGCTCCCCCCAC CAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTG CCCCCACCGA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1326		chr1	TogoVar
PLVAP_chr19_17346455_17382342	17349132	TTCTTTCT others(87): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(244): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0003 a0001c0008 others(7): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0012 a0004c0004 a0005c0006 a0006c0007 a0008c0005 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0002c0002t0001 a0003c0012t0001 a0004c0004t0001 a0005c0006t0001 a0006c0007t0002 a0008c0005t0001 a0009c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(229): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0001g0353 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0377 a0001c0001t0001g0380 a0001c0001t0001g0386 a0001c0001t0001g0388 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0393 a0001c0001t0001g0396 a0001c0001t0001g0400 a0001c0001t0001g0402 a0001c0001t0001g0409 a0001c0001t0001g0411 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0003g0262 a0001c0001t0004g0075 a0001c0001t0004g0124 a0001c0001t0004g0134 a0001c0001t0005g0384 a0001c0001t0006g0091 a0001c0001t0006g0105 a0001c0001t0006g0115 a0001c0001t0007g0282 a0001c0001t0007g0354 a0001c0001t0007g0401 a0001c0001t0008g0071 a0001c0001t0008g0103 a0001c0001t0010g0041 a0001c0001t0013g0385 a0001c0001t0014g0408 a0001c0001t0015g0256 a0001c0001t0016g0294 a0001c0001t0017g0257 a0001c0001t0019g0415 a0001c0003t0001g0171 a0001c0003t0001g0216 a0001c0003t0002g0023 a0001c0008t0001g0208 a0002c0002t0001g0001 a0002c0002t0001g0240 a0002c0002t0001g0324 a0002c0002t0001g0370 a0003c0012t0001g0413 a0004c0004t0001g0398 a0005c0006t0001g0330 a0006c0007t0002g0117 a0008c0005t0001g0392 a0009c0010t0001g0286	247	436	0.5665	-94	c.31 others(105): Show c.3136_*3229delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2322		chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137536802	CACTTCAT others(87): Show CACTTCATCTCCCACGACAGGAAGCATGGGGGCCATCCTCCGAGCCACAC TTCATCTCCCACGACAGGAAGCATGGGGGCCATCCTCTGAGCCAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18747.hp1 NA18951.hp1 HG00609.hp1 NA18747.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0084 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0084	3	188	0.0160	-94	c.747 others(111): Show c.747+3746_747+3839delATGGCTCAGAGGATGGCCCCCATGCTTC CTGTCGTGGGAGATGAAGTGTGGCTCGGAGGATGGCCCCCATGCTTCCTG TCGTGGGAGATGAAGT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	8/34			chr9	TogoVar
PNPLA8_chr7_108465417_108531135	108490187	TACAGGTT others(87): Show TACAGGTTTATAGCCTAGGAACTATAGGCTATACCATTTAGCCTACATGT GTAGTAGGCTATACCATCTAAGTATGTCTAAGTACACTCTATAAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03710.hp1 HG02886.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0073 a0001c0001t0002g0057 a0001c0001t0002g0073	2	390	0.0051	-94	c.168 others(113): Show c.1683+1129_1683+1222delGTTATAGAGTGTACTTAGACATACTT AGATGGTATAGCCTACTACACATGTAGGCTAAATGGTATAGCCTATAGTT CCTAGGCTATAAACCTGT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	8/10			chr7	TogoVar
POLD1_chr19_50379347_50423014	50395139	AGCTGGGT others(87): Show AGCTGGGTACAGGTACTTTTTAAAAACTTCTTTCTCTGACAATTTCAAAT TAACAGGAAGGTTGAAAGAATAAATAGTGTAGGCCGGGCGCGGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(82): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00733.hp1 HG01070.hp2 HG01109.hp2 HG01243.hp1 HG01255.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18945.hp2 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18989.hp2 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19010.hp2 NA19012.hp2 NA19068.hp2 NA19070.hp1 NA19083.hp1 NA19086.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0007 a0001c0013 a0002c0002 others(11): Show a0001c0007 a0001c0013 a0002c0002 a0002c0008 a0002c0015 a0002c0016 a0002c0017 a0003c0006 a0003c0012 a0003c0032 a0003c0033 a0006c0018 a0006c0019 a0011c0030	a0001c0007t0001 a0001c0013t0001 a0002c0002t0001 others(11): Show a0001c0007t0001 a0001c0013t0001 a0002c0002t0001 a0002c0008t0001 a0002c0015t0001 a0002c0016t0001 a0002c0017t0001 a0003c0006t0001 a0003c0012t0001 a0003c0032t0001 a0003c0033t0001 a0006c0018t0001 a0006c0019t0001 a0011c0030t0001	a0001c0007t0001g0001 a0001c0007t0001g0046 a0001c0007t0001g0047 others(80): Show a0001c0007t0001g0001 a0001c0007t0001g0046 a0001c0007t0001g0047 a0001c0007t0001g0048 a0001c0007t0001g0049 a0001c0013t0001g0050 a0001c0013t0001g0099 a0002c0002t0001g0024 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0008t0001g0030 a0002c0008t0001g0056 a0002c0008t0001g0075 a0002c0008t0001g0080 a0002c0008t0001g0081 a0002c0008t0001g0096 a0002c0015t0001g0032 a0002c0015t0001g0033 a0002c0016t0001g0082 a0002c0017t0001g0059 a0003c0006t0001g0020 a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0036 a0003c0006t0001g0037 a0003c0006t0001g0038 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0012t0001g0039 a0003c0012t0001g0042 a0003c0012t0001g0043 a0003c0032t0001g0013 a0003c0033t0001g0100 a0006c0018t0001g0106 a0006c0019t0001g0105 a0011c0030t0001g0101	85	336	0.2530	-94	c.-1- others(109): Show c.-1-3614_-1-3521delGGGTACAGGTACTTTTTAAAAACTTCTTTC TCTGACAATTTCAAATTAACAGGAAGGTTGAAAGAATAAATAGTGTAGGC CGGGCGCGGTGGCT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPARGC1B_chr5_149725310_149860022	149809309	GATAGATA others(87): Show GATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAG ATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01993.hp2 HG00558.hp1 HG01993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0025 a0001c0001t0015 a0002c0002t0025	a0001c0001t0015g0189 a0002c0002t0025g0027 a0001c0001t0015g0189 a0002c0002t0025g0027	2	320	0.0063	-94	c.79- others(111): Show c.79-11097_79-11004delAGATCCATCTCTACCATAGATAGATAGA TAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGAT AGATAGATAGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP2R3B_chrX_328933_391907	340026	GGGGGGGG others(87): Show GGGGGGGGTGAGAGGGGAGGAGATGGGGGGGGTGAGAGGGGAGGAGATGG GGGGGTGAGAGGGGAGGAGATGGGGGGGGTGAGAGGGGAGGAGAT	G G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0013 a0002c0003t0003g0013	1	25	0.0400	-94	c.135 others(111): Show c.1351+645_1351+738delATCTCCTCCCCTCTCACCCCCCCCATCT CCTCCCCTCTCACCCCCCCATCTCCTCCCCTCTCACCCCCCCCATCTCCT CCCCTCTCACCCCCCC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	354067	GCCCAAAG others(87): Show GCCCAAAGACCGGGGCTCACCCAGGGACCAGGGGCTCGCCCAAACACAGG GGGCTCACCCAAAGACTGGGGGCTCACCCAAACACCGGGGGCTCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0010 a0004c0012t0010	a0004c0012t0010g0024 a0004c0012t0010g0024	1	25	0.0400	-94	c.511 others(111): Show c.511-6468_511-6375delTGAGCCCCCGGTGTTTGGGTGAGCCCCC AGTCTTTGGGTGAGCCCCCTGTGTTTGGGCGAGCCCCTGGTCCCTGGGTG AGCCCCGGTCTTTGGG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	2/12			chrX	TogoVar
PPP4R3A_chr14_91452508_91515310	91507389	GTATATGT others(87): Show GTATATGTACTATAATTATATATACTATATAATATATATACTATAATTAT ATATACTATATAGTATATATACTATAATTATATATACTATAGTTA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	370	0.0027	-94	c.142 others(111): Show c.142+2023_142+2116delTAACTATAGTATATATAATTATAGTATA TATACTATATAGTATATATAATTATAGTATATATATTATATAGTATATAT AATTATAGTACATATA	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPP6R2_chr22_50338327_50450090	50339614	TGGTATGT others(87): Show TGGTATGTAGTGTGTGTTATGTGGTGTGTGTGTAGGGTGTGTGGTGTATG TTTCGAGTGTGTGTTGTGTGTGGTGTGATTGGTGTGTAGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0011 a0011	a0011c0032 a0011c0032	a0011c0032t0011 a0011c0032t0011	a0011c0032t0011g0287 a0011c0032t0011g0287	1	340	0.0029	-94	c.-40 others(105): Show c.-4083_-3990delGGTATGTAGTGTGTGTTATGTGGTGTGTGTGTAG GGTGTGTGGTGTATGTTTCGAGTGTGTGTTGTGTGTGGTGTGATTGGTGT GTAGTGTGTG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding		3712		chr22	TogoVar
PRDM15_chr21_41793225_41884344	41814151	TCTAGTGT others(87): Show TCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTGCTCT AGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTGCC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0250 a0001c0004t0003g0250	1	406	0.0025	-94	c.239 others(113): Show c.2392+1460_2392+1553delGGCACCCTGCGCAATCACTAACACGA GGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACGAGGC ATTCTCATAAAACACTAG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
PRIMA1_chr14_93713298_93793485	93737502	CAACAGAG others(87): Show CAACAGAGGCGTGGGGAGGTCACTGGTGGGACCATTATGGGTGACACCAA CAGAGGCATGGGGAGGTCACTGGTGGGACCATCATGGGTGACACT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02109.hp2 HG02622.hp2 others(3): Show HG01255.hp1 HG02109.hp2 HG02622.hp2 HG02717.hp1 HG02818.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0003t0002 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0005t0001 a0002c0007t0002	a0001c0001t0001g0352 a0001c0003t0002g0179 a0001c0003t0002g0183 others(3): Show a0001c0001t0001g0352 a0001c0003t0002g0179 a0001c0003t0002g0183 a0001c0003t0002g0330 a0001c0005t0001g0322 a0002c0007t0002g0204	6	397	0.0151	-94	c.230 others(109): Show c.230-226_230-133delAGTGTCACCCATGATGGTCCCACCAGTGAC CTCCCCATGCCTCTGTTGGTGTCACCCATAATGGTCCCACCAGTGACCTC CCCACGCCTCTGTT	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	3/4			chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2122409	TTAGGGTC others(87): Show TTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTA GGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	286	0.0035	-94	c.335 others(113): Show c.335-12849_335-12756delGGTCACGGTGGTAGGGTCGTGGTGGT TAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGG TTAGGGTCACGGTGGTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122959	AGGGTCAT others(87): Show AGGGTCATGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGG GTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19077.hp2 NA18975.hp1 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0216 a0001c0002t0001g0218	2	286	0.0070	-94	c.335 others(113): Show c.335-12301_335-12208delGGTCATGGTGGTGGTTAGGGTCACGG TGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGG TGGTTAGGGTCGTGGTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123183	AGGGTCAC others(87): Show AGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGG GTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	286	0.0035	-94	c.335 others(113): Show c.335-12077_335-11984delGGTCACGGTGGTGGTTAGGGTCACGG TGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGG TGGTTAGGGTCGTGGTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR5L_chr11_36291288_36470204	36351564	TATATATT others(87): Show TATATATTTATATAAATATATATTTATATATTTATATAAATATATATTTA TATATTTATATATTTATATAAATATATATTTATATATTTATATAA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02293.hp2 HG02976.hp1 HG01978.hp2 HG02293.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0002t0001 a0002c0005t0001 a0001c0001t0002 a0001c0002t0001 a0002c0005t0001	a0001c0001t0002g0077 a0001c0002t0001g0083 a0002c0005t0001g0038 a0001c0001t0002g0077 a0001c0002t0001g0083 a0002c0005t0001g0038	3	272	0.0110	-94	c.-12 others(115): Show c.-125-49426_-125-49333delTTATATAAATATATATTTATATAT TTATATAAATATATATTTATATATTTATATATTTATATAAATATATATTT ATATATTTATATAAATATAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPN9_chr15_75458251_75584315	75504081	GGGATCAG others(87): Show GGGATCAGCACCCCGCCCGGACAGCCGCCCCGTCCGGGAGGGAGGTGGGG AGGTCAGCCCCCCGCCCGGACAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	326	0.0031	-94	c.968 others(111): Show c.968+1500_968+1593delACCTCCCTCCCGGACGGGGCGGCTGTCC GGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCG GGCGGGGTGCTGATCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12			chr15	TogoVar
PXMP2_chr12_132682587_132709985	132693848	TCCCTTGC others(87): Show TCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGATAGTGAGCG CCCTTAGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG03486.hp2 others(2): Show HG02572.hp1 HG02615.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(2): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0002g0136	5	350	0.0143	-94	c.237 others(111): Show c.237-1996_237-1903delATAGTGAGCGCCCTTAGCCAGTTAGTGA GCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGC TCCCTTAGCCAGTTAG	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXYLP1_chr3_141226825_141299924	141248657	GTATATAT others(87): Show GTATATATACACACACGTGTATATATACACACGTATATACACACACGTGT ATATATACACACGTATATACACACACGTGTATATATACACACGTA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	2	384	0.0052	-94	c.-53 others(113): Show c.-53-11427_-53-11334delCACACACGTGTATATATACACACGTA TATACACACACGTGTATATATACACACGTATATATATACACACACGTGTA TATATACACACGTATATA	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
QSOX2_chr9_136201333_136250812	136221103	AGGCAAAG others(87): Show AGGCAAAGGGCTTATCCTCATGAGGGGCACACAGGCACTCCACGCAGGGG CGAAGGGCTTATCCTCATGAGGGGCACACGGGCACCCCACGCAGG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0209 a0001c0001t0031g0305 a0001c0001t0031g0209 a0001c0001t0031g0305	2	392	0.0051	-94	c.821 others(109): Show c.821+599_821+692delCCTGCGTGGGGTGCCCGTGTGCCCCTCATG AGGATAAGCCCTTCGCCCCTGCGTGGAGTGCCTGTGTGCCCCTCATGAGG ATAAGCCCTTTGCC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	6/11			chr9	TogoVar
QSOX2_chr9_136201333_136250812	136221141	TCCACGCA others(87): Show TCCACGCAGGGGCGAAGGGCTTATCCTCATGAGGGGCACACGGGCACCCC ACGCAGGGGCAAAGGGCTTATCCTCATGAGGGGCACACAGGCACC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp2 HG03139.hp1 HG02559.hp1 HG02886.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0056 a0001c0001t0022 a0001c0001t0056	a0001c0001t0022g0267 a0001c0001t0022g0268 a0001c0001t0056g0270 a0001c0001t0022g0267 a0001c0001t0022g0268 a0001c0001t0056g0270	3	392	0.0077	-94	c.821 others(109): Show c.821+561_821+654delGGTGCCTGTGTGCCCCTCATGAGGATAAGC CCTTTGCCCCTGCGTGGGGTGCCCGTGTGCCCCTCATGAGGATAAGCCCT TCGCCCCTGCGTGG	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	6/11			chr9	TogoVar
RASA3_chr13_113972783_114137623	113974180	CTGGGGCG others(87): Show CTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	67	0.0149	-94	c.50 others(105): Show c.5073_*5166delACCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGC AGAACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGA ACCCGCCCCA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		3602		chr13	TogoVar
RASA3_chr13_113972783_114137623	114014052	GTCTGTCT others(87): Show GTCTGTCTCTGCCTCTCTCTCCGTCTGTCTCTGCCTCTCTCTCCGTCTCT CCCTGTCTCTCTCTCTCTCTCCTTGTCTCTCTCTGTCTCTCTCCT	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18954.hp2 NA18971.hp1 HG01993.hp2 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0030 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0030	3	67	0.0448	-94	c.140 others(111): Show c.1406-898_1406-805delAGGAGAGAGACAGAGAGAGACAAGGAGA GAGAGAGAGAGACAGGGAGAGACGGAGAGAGAGGCAGAGACAGACGGAGA GAGAGGCAGAGACAGA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	14/23			chr13	TogoVar
RASSF3_chr12_64605495_64702564	64640643	CATTTTAT others(87): Show CATTTTATTTTATTTTTTGAGACAGGGTCTCACTCTGTTACCCATGCTGG AGTGCAGTGGTGCAGTCATGGCTCACTGCAGCCTCAACCTCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0161 a0001c0001t0013g0161	1	370	0.0027	-94	c.111 others(113): Show c.111+29901_111+29994delATTTTATTTTATTTTTTGAGACAGGG TCTCACTCTGTTACCCATGCTGGAGTGCAGTGGTGCAGTCATGGCTCACT GCAGCCTCAACCTCCCGG	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4			chr12	TogoVar
RBFOX1_chr16_6014024_7718340	7008658	TTCCTCCC others(87): Show TTCCTCCCTCCCTCCCTTCCTCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG01192.hp2 others(14): Show HG00280.hp2 HG01175.hp1 HG01192.hp2 HG02148.hp1 HG02148.hp2 HG02738.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp2 HG03490.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp1 NA18522.hp1 NA18994.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0031 a0001c0001t0035 a0001c0001t0040 a0001c0002t0028 a0002c0003t0034 a0003c0005t0003	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0059 others(14): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0002g0044 a0001c0001t0003g0010 a0001c0001t0003g0041 a0001c0001t0005g0066 a0001c0001t0010g0037 a0001c0001t0011g0035 a0001c0001t0014g0046 a0001c0001t0019g0055 a0001c0001t0031g0056 a0001c0001t0035g0065 a0001c0001t0040g0064 a0001c0002t0028g0031 a0002c0003t0034g0061 a0003c0005t0003g0043	17	68	0.2500	-94	c.-15 others(113): Show c.-15-43386_-15-43293delCCCTTCCTCCTCCCTTCCTCCCTCCC TCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTC CCTTCCTCCTCCCTCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504708	ATTATATA others(87): Show ATTATATATATATATATATATATATATATATATATATATATATATATTTA TATATATATATATTTATATATATATATATTTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0023 a0001c0019t0023	a0001c0019t0023g0210 a0001c0019t0023g0210	1	234	0.0043	-94	c.88- others(111): Show c.88-13421_88-13328delTATATATATATATATATATATATATATA TTTATATATATATATATTTATATATATATATATTTATATATATATATATT TATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79528294	GTCTCTGA others(87): Show GTCTCTGAGGAGGATCTTAGTTGAAACCCTGAGGTACCTCTGAGGAGGAT CTTAGTTGAAACTCTGAGGAGGATCTTAGTTGAACCTCTGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp1 HG02145.hp1 others(24): Show HG00639.hp2 HG01884.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0002t0002 a0001c0002t0004 a0001c0004t0006	a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0002g0093 others(24): Show a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0002g0093 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0129 a0001c0001t0004g0090 a0001c0001t0004g0092 a0001c0001t0004g0100 a0001c0001t0004g0118 a0001c0001t0004g0133 a0001c0001t0004g0152 a0001c0001t0005g0107 a0001c0001t0006g0112 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0008g0117 a0001c0001t0009g0024 a0001c0001t0013g0070 a0001c0001t0016g0019 a0001c0001t0021g0026 a0001c0001t0025g0143 a0001c0001t0026g0106 a0001c0001t0028g0136 a0001c0002t0002g0134 a0001c0002t0004g0091 a0001c0004t0006g0135	27	154	0.1753	-94	c.-31 others(115): Show c.-319-45790_-319-45697delTACCTCAGAGGTTCAACTAAGATC CTCCTCAGAGTTTCAACTAAGATCCTCCTCAGAGGTACCTCAGGGTTTCA ACTAAGATCCTCCTCAGAGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
REV3L_chr6_111294033_111488218	111422586	ATATATAT others(87): Show ATATATATACACATATATATATATATACACATATATATATATATACACAT ATATATATATATACATATATATATATACATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02965.hp2 others(2): Show HG02630.hp2 HG02809.hp1 HG02965.hp2 HG03130.hp1 NA20300.hp2	a0007 a0007	a0007c0013 a0007c0016 a0007c0013 a0007c0016	a0007c0013t0001 a0007c0016t0001 a0007c0016t0008 a0007c0013t0001 a0007c0016t0001 a0007c0016t0008	a0007c0013t0001g0124 a0007c0013t0001g0125 a0007c0013t0001g0132 others(2): Show a0007c0013t0001g0124 a0007c0013t0001g0125 a0007c0013t0001g0132 a0007c0016t0001g0122 a0007c0016t0008g0123	5	288	0.0174	-94	c.140 others(111): Show c.140-6208_140-6115delCGTATATATATATATATGTATATATATA TATGTATATATATATATATGTGTATATATATATATATGTGTATATATATA TATATGTGTATATATA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar

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