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
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG01099.hp1 HG01168.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0019 a0002c0004t0001g0020 a0002c0004t0001g0019 a0002c0004t0001g0020	2	278	0.0072	222	c.240 others(243): Show c.2409+54836_2409+54837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp1 HG01099.hp1 HG01168.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0264 a0003c0003t0001g0265	2	288	0.0069	222	c.242 others(243): Show c.2421+44949_2421+44950insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG01099.hp2 HG01168.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0271 a0003c0003t0001g0272	2	296	0.0068	222	c.241 others(243): Show c.2415+34696_2415+34697insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG01099.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0017 a0001c0001t0001g0018	2	294	0.0068	222	c.239 others(243): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG01099.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0022 a0001c0001t0002g0023	2	300	0.0067	222	c.239 others(241): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01168.hp2 HG01099.hp2 HG01168.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0090 a0002c0003t0001g0172 a0002c0003t0001g0090 a0002c0003t0001g0172	2	302	0.0066	222	c.-71 others(231): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(215): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCA CTTCCCCTCCCTCTCCCCTGCCCTCCCCCCTCCCCCTCCCTCATCCCCTC CCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTACCCCCT CCCCCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	336	0.0030	222	c.-37 others(233): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGTAGTG GGGAGGGGATGGGGGAGGGGAGGGGGAGGGGGAGGGGGGGAGGGGATGAG GGAGGGGGAGGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CGAAAGAA others(215): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAA GAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	342	0.0029	222	c.20- others(237): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT CTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGAGGGG others(215): Show AGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAGG GGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAGG GGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGGG AGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGGAAGGGAAGG GAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	396	0.0025	222	c.-48 others(233): Show c.-4890_-4889insGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGG AGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGG GAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAG GGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGA AGAGGGAAGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(215): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGAAGGAGAAGG GGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAGG GGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAAGGGGGAGGGG GAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAAG GGAAAGGGAAAGGGGAAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	396	0.0025	222	c.-48 others(233): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGG GAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAG GGAAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGG AAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(215): Show AGGGAGGGGGAAGGGAAGGTGGGGGAAGGGGGAGGCGGAGGGGAAGGAGA AGGGGGCAAGGGGAGGGGAGGAGAGGGGGAGGGGAGGGGAAGGGAAGGGA AGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGAGGG GGAGGAGGAGTGGGAGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAAG GGAAAGGGAAAGGGGAAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	222	c.-48 others(233): Show c.-4890_-4889insGGGAGGGGGAAGGGAAGGTGGGGGAAGGGGGAGG CGGAGGGGAAGGAGAAGGGGGCAAGGGGAGGGGAGGAGAGGGGGAGGGGA GGGGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGG AAGGGAAGGGGAGGGGGAGGAGGAGTGGGAGGGAAGGGGAGGGGAAGGGG AAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PERM1_chr1_970198_987093	977380	C C	CAACCCCG others(215): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	408	0.0025	222	c.215 others(239): Show c.2150-757_2150-756insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGG TGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGCGGGGGGGAGTGGGAGGCGGTTCCCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977444	C C	CCAACCCC others(215): Show CCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCC TCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAA CCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCC GCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCG GGAACCGCCTCCCGCTCCCCCCG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0002 a0020c0023t0002	a0020c0023t0002g0052 a0020c0023t0002g0052	1	408	0.0025	222	c.215 others(239): Show c.2150-821_2150-820insCGGGGGGAGCGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGCGGGAG GCGGTTCCCGGGGTTGGCGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGC GGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGCGGGAGGCGG TTCCCGGGGTTGGCGGGGGGAGCGGGAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX10_chr1_2398974_2417564	2401360	C C	CTCCCTCC others(215): Show CTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCC CTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCC TCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCT CCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTC CCTCCTCCTTCCTCCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01934.hp1 HG02559.hp2 others(3): Show HG00438.hp1 HG01934.hp1 HG02559.hp2 NA18947.hp2 NA18981.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0007 a0001c0001t0005g0081 a0001c0001t0021g0082 a0001c0001t0005g0007 a0001c0001t0005g0081 a0001c0001t0021g0082	6	358	0.0168	222	c.44 others(233): Show c.4405_*4406insAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGG AGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGGGA GGAGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAGAA GGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGG GAGGGAAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2613		chr1	TogoVar
PEX5_chr12_7184686_7216459	7196972	A A	ATAATTAT others(215): Show ATAATTATATATGTCATATGTAATAATTATGTCATATATAATGTAATAAT TATGTCATATATAATGTAATAATTATATATGTCATATATAATGTAATAAT TATATATGTCATATACAATGTAATCATATGTCATATACAATGTAATAATT ATATATGTCATATACAATGTAATAATTATATATGTCATATACAATGTAAT AATTATATATGTCATATACAATG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	428	0.0023	222	c.449 others(239): Show c.449-2024_449-2023insTATGTAATAATTATGTCATATATAATGT AATAATTATGTCATATATAATGTAATAATTATATATGTCATATATAATGT AATAATTATATATGTCATATACAATGTAATCATATGTCATATACAATGTA ATAATTATATATGTCATATACAATGTAATAATTATATATGTCATATACAA TGTAATAATTATATATGTCATATACAATGTAATTATATATGTCA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP6_chr16_365788_386978	378516	T T	TGCCATCG others(215): Show TGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCC ACACTGCCATCCCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGCC ACCCACAATGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCAT CCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTG CCATCGCCACCCACACTGCCATC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	376	0.0027	222	c.122 others(237): Show c.122-669_122-668insGATGGCAGTGTGGGTGGCGATGGCAGTGCG GGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAG TGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCATTGTGGGTGGCGATG GCAGTCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGTGGGTGGC GATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGAP6_chr16_365788_386978	378516	T T	TGCCATCG others(215): Show TGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCC TGACTGCCATCGCCACCCACACTGCCATCCCCACCCGCACTGCCATCGCC ACCCTGACTGCCATCGCCACCCACAATGCCATCCCCACCCGCACTGCCAT CGCCACCCGCACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTG CCATCGCCACCCACACTGCCATC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01255.hp1 HG01256.hp1 HG00642.hp2 HG01255.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	3	376	0.0080	222	c.122 others(237): Show c.122-669_122-668insGATGGCAGTGTGGGTGGCGATGGCAGTGCG GGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGCGGGTGGCGATGGCAG TGCGGGTGGGGATGGCATTGTGGGTGGCGATGGCAGTCAGGGTGGCGATG GCAGTGCGGGTGGGGATGGCAGTGTGGGTGGCGATGGCAGTCAGGGTGGC GATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGAP6_chr16_365788_386978	378516	T T	TGCCATCG others(215): Show TGCCATCGCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGCCACCC ACACTGCCATCCCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGCC ACCCACAATGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCAT CCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTG CCATCGCCACCCACACTGCCATC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18990.hp2 NA18988.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0095 a0001c0001t0024g0177 a0001c0001t0002g0095 a0001c0001t0024g0177	2	376	0.0053	222	c.122 others(237): Show c.122-669_122-668insGATGGCAGTGTGGGTGGCGATGGCAGTGCG GGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAG TGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCATTGTGGGTGGCGATG GCAGTCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGTGGGTGGC GATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGATGGC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(215): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0016 a0003c0006t0002g0062 a0003c0006t0002g0016 a0003c0006t0002g0062	2	342	0.0059	222	c.-66 others(241): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCTCCC others(215): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02622.hp1 HG00738.hp1 HG02622.hp1	a0002 a0048 a0002 a0048	a0002c0021 a0048c0023 a0002c0021 a0048c0023	a0002c0021t0004 a0048c0023t0017 a0002c0021t0004 a0048c0023t0017	a0002c0021t0004g0128 a0048c0023t0017g0081 a0002c0021t0004g0128 a0048c0023t0017g0081	2	134	0.0149	222	c.575 others(243): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	401948	G G	GCCCCGCT others(215): Show GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01975.hp2 HG02074.hp2 HG01952.hp1 HG01975.hp2 HG02074.hp2	a0001 a0019 a0001 a0019	a0001c0003 a0019c0017 a0001c0003 a0019c0017	a0001c0003t0001 a0019c0017t0001 a0001c0003t0001 a0019c0017t0001	a0001c0003t0001g0095 a0001c0003t0001g0098 a0019c0017t0001g0109 a0001c0003t0001g0095 a0001c0003t0001g0098 a0019c0017t0001g0109	3	216	0.0139	222	c.173 others(241): Show c.1738-1130_1738-1129insCCCCGCTCACACCCGACCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGC CCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCC GCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTC ACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLEKHA4_chr19_48832097_48873617	48834509	T T	TGAGGAAG others(215): Show TGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGG GCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCG AGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGC TGGGAGCCTGGACTCCTGGGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	300	0.0033	222	c.27 others(233): Show c.2779_*2780insGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCC CTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGA GTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCA GGCCCTACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCT CAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2587		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834925	A A	AGGGCTGG others(215): Show AGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0001 a0002c0002t0004g0001	1	300	0.0033	222	c.23 others(233): Show c.2363_*2364insCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTC AGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTC CAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGC CCTACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGCCC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2171		chr19	TogoVar
PLEKHG4B_chr5_87168_194966	94503	G G	GGCAGGTT others(215): Show GGCAGGTTCCATCCTGAAAGTGTTGGTTCTGGGCCTGGGAATCTGGGCAG GGGGAGAGTGAAGAGGAGTAGGCTGGAATGAGTGGGTGGCAGGTGGAGGG GGTTGAGAGGTAGCAGGTTCCATCCTGAAGGTGTTGGTCCTGGGCCTGGG AATCTGGGCAGGGGGAGAGTGAAGAGGAGTAGGCTGGAATGAGTGGGTGG CAGGTGGAGGGGGTTGAGAGGTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01081.hp2 others(2): Show HG00280.hp2 HG00323.hp2 HG01081.hp2 HG02004.hp2 HG04204.hp1	a0019 a0039 a0040 others(1): Show a0019 a0039 a0040 a0041	a0019c0019 a0039c0062 a0040c0063 others(1): Show a0019c0019 a0039c0062 a0040c0063 a0041c0064	a0019c0019t0010 a0019c0019t0062 a0039c0062t0010 others(2): Show a0019c0019t0010 a0019c0019t0062 a0039c0062t0010 a0040c0063t0063 a0041c0064t0010	a0019c0019t0010g0164 a0019c0019t0062g0191 a0039c0062t0010g0165 others(2): Show a0019c0019t0010g0164 a0019c0019t0062g0191 a0039c0062t0010g0165 a0040c0063t0063g0189 a0041c0064t0010g0190	5	210	0.0238	222	c.45+ others(237): Show c.45+2292_45+2293insAGTAGGCTGGAATGAGTGGGTGGCAGGTGG AGGGGGTTGAGAGGTAGCAGGTTCCATCCTGAAGGTGTTGGTCCTGGGCC TGGGAATCTGGGCAGGGGGAGAGTGAAGAGGAGTAGGCTGGAATGAGTGG GTGGCAGGTGGAGGGGGTTGAGAGGTAGCAGGTTCCATCCTGAAAGTGTT GGTTCTGGGCCTGGGAATCTGGGCAGGGGGAGAGTGAAGAGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165122	A A	ACACTAAT others(215): Show ACACTAATGCTCTGACGGGGTGGAGCTCACACTAATGCTCTGACGGGGCG GGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGAC GGGGCGGGGCTCACACTAATGCTCTGACGGGGTGGAGCTCACACTAATGC TGTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAG TAATCCTCTGACGGGGCGGAGCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0059 a0001c0001t0079g0059	1	210	0.0048	222	c.347 others(241): Show c.3476+1577_3476+1578insTAATGCTCTGACGGGGTGGAGCTCAC ACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGG GCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGG GGTGGAGCTCACACTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTC TGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG7_chr12_92697989_92777455	92727987	C C	CACACACC others(215): Show CACACACCACATTCCATGGTGTATATATAAATATATATACACACCACATT CCATGGTGTATATATAAATATATATACACACCACATTCCATGGTGTATAT ATAAATATATATACACACCACATTCCATGGTGTATATATAAATATATATA CACACCACATTCCATGGTGTATATATAAATATATATACACACCACATTCC ATGGTGTATATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0232 a0002c0002t0005g0232	1	252	0.0040	222	c.531 others(237): Show c.531-763_531-542dupTATATATAAATATATATACACACCACATTC CATGGTGTATATATAAATATATATACACACCACATTCCATGGTGTATATA TAAATATATATACACACCACATTCCATGGTGTATATATAAATATATATAC ACACCACATTCCATGGTGTATATATAAATATATATACACACCACATTCCA TGGTGTATATATAAATATATATACACACCACATTCCATGGTG	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHN1_chr1_961482_980865	977444	C C	CCAACCCC others(215): Show CCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCC TCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAA CCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCC GCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCG GGAACCGCCTCCCGCTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0019 a0001c0011t0019	a0001c0011t0019g0163 a0001c0011t0019g0163	1	422	0.0024	222	c.28 others(233): Show c.2869_*2870insCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCA ACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCC CGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCCAACCC CGGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCT CCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1580		chr1	TogoVar
PLPP2_chr19_276043_296403	291676	G G	GAGGAGGG others(215): Show GAGGAGGGGAGGGAGGGGGAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAA GGGGGGGACGGCAGCGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGA GGGGAGGGTTAGGGGCGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGG GCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGG AGGGGAGGAGGGAGGGGGACGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	354	0.0028	222	c.-34 others(231): Show c.-341_-340insGCCGTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCC GCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTTCCTCCCCTCCC CTCCCCCCCTCCTCCCCTCCCCCTCCCTCCCCTCCT	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		274		chr19	TogoVar
PPP2R2D_chr10_131896008_131964834	131939071	T T	TACGGCAG others(215): Show TACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAATACGGCAGGCTGC ATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCT GCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACA CGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCAT TCGGCAGACCTGCTCCAGAAAAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02735.hp2 HG03710.hp2 others(4): Show HG02027.hp1 HG02735.hp2 HG03710.hp2 HG03831.hp2 HG04204.hp2 NA18747.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0203 a0002c0002t0001g0210 others(3): Show a0002c0002t0001g0023 a0002c0002t0001g0203 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0221 a0002c0002t0001g0231	7	394	0.0178	222	c.199 others(237): Show c.199-944_199-943insGGCAGACCTGCTCCAGAAAATACGGCAGGC TGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGA CCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAA ACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTG CATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTC	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131939088	A A	AGCAGACC others(215): Show AGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTC CAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGC AGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGG CAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCA GAAAACACGGCAGGCTGCATTCG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0051 a0001c0001t0009g0051	1	394	0.0025	222	c.199 others(237): Show c.199-701_199-480dupCACGGCAGGCTGCATTCGGCAGACCTGCTC CAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGC AGGCTGCATTCGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGG CAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCA GAAAACACGGCAGGCTGCATTCGGCAGACCTGCTCCAGAAAA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131958929	G G	GCGTGTGC others(215): Show GCGTGTGCTGATCCGCCATCCCACTGTGGAGAAGAAGGCGTGTGCTGATC CCCCATCCCCCTGTGGAGATGAAGGCGTGTGCTGATCCCCCATCCCCCTG TGGAGATGAAGGTGTGTGCTGCTTCCTCGTGCCCCTGTGGAGATGGAGGT GTGTGCTGGTCCCCCGTCCCCCTGTGGAGATGGAGGTGTGTGCTGATCCC CCATCCCCCTGTGGAGATGAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0036 a0001c0001t0068g0036	1	394	0.0025	222	c.29 others(233): Show c.2966_*2967insCGTGTGCTGATCCGCCATCCCACTGTGGAGAAGA AGGCGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGGCGTGTGCTGA TCCCCCATCCCCCTGTGGAGATGAAGGTGTGTGCTGCTTCCTCGTGCCCC TGTGGAGATGGAGGTGTGTGCTGGTCCCCCGTCCCCCTGTGGAGATGGAG GTGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	9/9	2967		chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131958988	A A	ACTGTGGA others(215): Show ACTGTGGAGAAGAAGGCGTGTGCTGATCCCCCATCCCCCTGTGGAGATGA AGGCGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGGTGTGTGCTGC TTCCTCGTGCCCCTGTGGAGATGGAGGTGTGTGCTGGTCCCCCGTCCCCC TGTGGAGATGGAGGTGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAG ACGTGTGCTGATCCCCCGTCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp1 others(77): Show HG00408.hp1 HG00544.hp2 HG00597.hp1 HG01192.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18944.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(28): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0084 a0001c0001t0085 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0005t0018 a0003c0004t0113	a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 others(75): Show a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0136 a0001c0001t0003g0164 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0072 a0001c0001t0006g0076 a0001c0001t0006g0083 a0001c0001t0006g0085 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0113 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0006g0135 a0001c0001t0006g0202 a0001c0001t0006g0347 a0001c0001t0011g0073 a0001c0001t0011g0077 a0001c0001t0011g0078 a0001c0001t0011g0080 a0001c0001t0011g0192 a0001c0001t0016g0022 a0001c0001t0016g0123 a0001c0001t0016g0125 a0001c0001t0017g0001 a0001c0001t0017g0013 a0001c0001t0017g0133 a0001c0001t0017g0257 a0001c0001t0018g0054 a0001c0001t0018g0055 a0001c0001t0020g0014 a0001c0001t0020g0111 a0001c0001t0020g0189 a0001c0001t0027g0120 a0001c0001t0027g0129 a0001c0001t0035g0014 a0001c0001t0035g0112 a0001c0001t0036g0048 a0001c0001t0039g0097 a0001c0001t0084g0098 a0001c0001t0085g0105 a0001c0001t0090g0106 a0001c0001t0091g0166 a0001c0001t0093g0165 a0001c0001t0095g0114 a0001c0001t0096g0056 a0001c0001t0098g0096 a0001c0001t0100g0101 a0001c0001t0101g0126 a0001c0001t0104g0001 a0001c0001t0105g0013 a0001c0001t0106g0087 a0001c0001t0107g0079 a0001c0001t0109g0169 a0001c0001t0110g0100 a0001c0001t0111g0001 a0001c0001t0112g0124 a0001c0005t0018g0255 a0003c0004t0113g0103	80	394	0.2031	222	c.30 others(233): Show c.3034_*3035insAGAAGGCGTGTGCTGATCCCCCATCCCCCTGTGG AGATGAAGGCGTGTGCTGATCCCCCATCCCCCTGTGGAGATGAAGGTGTG TGCTGCTTCCTCGTGCCCCTGTGGAGATGGAGGTGTGTGCTGGTCCCCCG TCCCCCTGTGGAGATGGAGGTGTGTGCTGATCCCCCATCCCCCTGTGGAG ATGAAGACGTGTGCTGATCCCCCGTCCCCCTGTGGAGA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	9/9	3035	INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131959017	C C	CCCATCCC others(215): Show CCCATCCCCCTGTGGAGATGAAGGCGTGTGCTGATCCCCCATCCCCCTGT GGAGATGAAGGTGTGTGCTGCTTCCTCGTGCCCCTGTGGAGATGGAGGTG TGTGCTGGTCCCCCGTCCCCCTGTGGAGATGGAGGTGTGTGCTGATCCCC CATCCCCCTGTGGAGATGAAGACGTGTGCTGATCCCCCGTCCCCCTGTGG AGATGAAGGCGTGTGCTGATCTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0086 a0001c0001t0089g0086	1	394	0.0025	222	c.30 others(233): Show c.3085_*3086insGATCCCCCATCCCCCTGTGGAGATGAAGGTGTGT GCTGCTTCCTCGTGCCCCTGTGGAGATGGAGGTGTGTGCTGGTCCCCCGT CCCCCTGTGGAGATGGAGGTGTGTGCTGATCCCCCATCCCCCTGTGGAGA TGAAGACGTGTGCTGATCCCCCGTCCCCCTGTGGAGATGAAGGCGTGTGC TGATCTGCCATCCCCCTGTGGAGATGAAGGCGTGTGCT	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	9/9	3086	INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R5C_chr14_101756709_101932977	101782327	C C	CTCCCCCT others(215): Show CTCCCCCTTCCCCTCCCTCTCTCCCCCTCCCCCTCCCTCTCTTTCCTCTT TCTCTCTCCCCCTCCCCCTCCCTCTCTCCTCCCTCTCTCTTTCTCCCCCT TCCCCCTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCATT CCCCTCCCTCTCTCCCCCTTCTCCTCCCTCTCTCCCCCTTCCCCTCCCTC TCTCCCCCTTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	138	0.0073	222	c.94- others(237): Show c.94-3691_94-3690insTCCCCCTTCCCCTCCCTCTCTCCCCCTCCC CCTCCCTCTCTTTCCTCTTTCTCTCTCCCCCTCCCCCTCCCTCTCTCCTC CCTCTCTCTTTCTCCCCCTTCCCCCTCTCTCCCCCCCTTTCTCCCCATTC CCCTCCCTCTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCTCCTCCCTCT CTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15			chr14	TogoVar
PRKN_chr6_161342417_162732766	162011147	T T	TTTATAAT others(215): Show TTTATAATATATACTATATTATATATAATATAGTATATTTTATAATATAT ACTATATTTTATATAATATAGTATATATTATAATATATACTATATTATAT ATAATATAGTATATTTTATAATATATACTATATTATATATAGTATATATT ATAATATATACTATATTATATATAATATAGTATATATTTATAATATATAC TATATATAATATAGTATATTTTA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0012 a0005c0011t0012	a0005c0011t0012g0009 a0005c0011t0012g0009	1	32	0.0313	222	c.619 others(241): Show c.619-37731_619-37730insTAAAATATACTATATTATATATAGTA TATATTATAAATATATACTATATTATATATAATATAGTATATATTATAAT ATATACTATATATAATATAGTATATATTATAAAATATACTATATTATATA TAATATAGTATATATTATAATATATACTATATTATATAAAATATAGTATA TATTATAAAATATACTATATTATATATAATATAGTATATATTATAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PROZ_chr13_113153648_113177386	113162304	C C	CCCCCCAT others(215): Show CCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCTCCACTCTGTCCT CCTCCTGCTCTGGTCCCTGTTCCTGTCACCCCACCCTCCTCCTGCTCAGG TGCTCAGGTCCCCGTCCCTGCTGCCACCCCCCACTCCATCCTCCTCCTGC TCAGGTCCCCATTCCTGTCACCACCCCCACCCTCCTCCTGCTCAGGTCCC CGTTCCTGTCACCACCACCCCAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	378	0.0027	222	c.260 others(237): Show c.260-702_260-701insCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCTCCACTCTGTCCTCCTCCTGCTCTGGTCCCTGTTCCTGTCACCCCAC CCTCCTCCTGCTCAGGTGCTCAGGTCCCCGTCCCTGCTGCCACCCCCCAC TCCATCCTCCTCCTGCTCAGGTCCCCATTCCTGTCACCACCCCCACCCTC CTCCTGCTCAGGTCCCCGTTCCTGTCACCACCACCCCAACCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PRPF31_chr19_54110754_54136713	54133824	T T	TCTCCACC others(215): Show TCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTTCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	227	0.0044	222	c.23 others(233): Show c.2392_*2393insCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCTCCACCTCCCCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2112		chr19	TogoVar
PTPRM_chr18_7562316_8411856	7985312	C C	CGTATATA others(215): Show CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTAAATATATACATATACTGG TAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02109.hp1 HG02572.hp2 others(2): Show HG02040.hp1 HG02109.hp1 HG02572.hp2 HG02630.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0005t0004 a0001c0001t0002 a0001c0005t0002 a0001c0005t0004	a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0005t0002g0024 others(2): Show a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0005t0002g0024 a0001c0005t0002g0043 a0001c0005t0004g0068	5	80	0.0625	222	c.113 others(243): Show c.1132+29898_1132+29899insGTATATAAATATATACATATACTG GTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAAT ATATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAG ATACGTAAATATATACATATACTGGTAGATACGTATATAAATATATACAT ATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32			chr18	TogoVar
PTPRM_chr18_7562316_8411856	7985342	C C	CGTATATA others(215): Show CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTAAATATATACATATACTGGTAGATACGTATATA AATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGG TAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0006 a0001c0019t0001g0006	1	80	0.0125	222	c.113 others(243): Show c.1132+29928_1132+29929insGTATATAAATATATACATATACTG GTAGATACGTATATAAATATATACATATACTGGTAGATACGTAAATATAT ACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATAC GTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACAT ATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32			chr18	TogoVar
PTTG1IP_chr21_44844598_44878690	44863187	G G	GACACAGC others(215): Show GACACAGCCCACCACGGCCTCGGCAACACAGAGACACACAGCCCGCCACG GCCTCAGCAGCAGACACACAGCCCACCACGGCCTCAGGAGCAGAGACACA GCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAG CACAGAGACACACAGCCCGCCACGGCCTCAGCAGCAGAGACACAGCCCAC CACGGCCTCAGCAGCACAGAGAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03098.hp1 HG03209.hp1 HG02897.hp2 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0026 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0026 a0001c0001t0008g0086 a0001c0001t0008g0087	3	444	0.0068	222	c.169 others(239): Show c.169-1917_169-1916insGTCTCTGTGCTGCTGAGGCCGTGGTGGG CTGTGTCTCTGCTGCTGAGGCCGTGGCGGGCTGTGTGTCTCTGTGCTGCT GAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGT CTCTGCTCCTGAGGCCGTGGTGGGCTGTGTGTCTGCTGCTGAGGCCGTGG CGGGCTGTGTGTCTCTGTGTTGCCGAGGCCGTGGTGGGCTGTGT	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5			chr21	TogoVar
RAB27A_chr15_55197966_55294813	55209923	C C	CACATATG others(215): Show CACATATGTGTGTATATATACGTATACACACATATGTGTGTATATATACG TATACACACATATGTGTGTATATACGTATATATACACACATATGTGTGTA TATACGTATATATACACACATGTGTGTATATACGGATATACACACATATG TGTATATATACGTATATACACACATATGTGTGTATATACGTATATACACA CATATGTGTATATCCGTATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02683.hp1 others(1): Show HG02257.hp1 HG02486.hp1 HG02683.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0311 a0001c0001t0003g0312 others(1): Show a0001c0001t0003g0028 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313	4	320	0.0125	222	c.468 others(239): Show c.468-4219_468-4218insATATATACGGATATACACATATGTGTGT ATATACGTATATACACACATATGTGTGTATATACGTATATATACACATAT GTGTGTATATCCGTATATACACACATGTGTGTATATATACGTATATACAC ACATATGTGTGTATATATACGTATATACACACATATGTGTGTATACGTAT ATATACACACATATGTGTGTATACGTATATATACACACATATGT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RAB27A_chr15_55197966_55294813	55209923	C C	CACATATG others(215): Show CACATATGTGTGTATATATACGTATACACACATATGTGTGTATATATACG TATACACACATATGTGTGTATATACGTATATATACACACATATGTGTGTA TATACGTATATATACACACATGTGTGTATATACGTATATACACACATATG TGTATATATACGTATATACACACATATGTGTGTATATACGTATATACACA CATATGTGTATATCCGTATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	320	0.0031	222	c.468 others(239): Show c.468-4219_468-4218insATATATACGGATATACACATATGTGTGT ATATACGTATATACACACATATGTGTGTATATACGTATATATACACATAT GTGTGTATATACGTATATACACACATGTGTGTATATATACGTATATACAC ACATATGTGTGTATATATACGTATATACACACATATGTGTGTATACGTAT ATATACACACATATGTGTGTATACGTATATATACACACATATGT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RASA3_chr13_113972783_114137623	114006570	T T	TGGATGCC others(215): Show TGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGATGCCACCTTA CCCTTCTCCCCACTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCA CTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCG GACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACC CTTCTCCCCCCTCCTGCCCTGCC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0063 a0001c0007t0002g0063	1	67	0.0149	222	c.174 others(239): Show c.1742+962_1742+963insGGCAGGGCAGGAGGGGGGAGAAGGGTAA GGTGGCGTCCGGCAGGGCAGGAGGGGAGAAGGGTAAGGTGGCGTCCGGCA GGGCAGGAGGGGAGAAGGGTAAGGTGGCATCCGGCAGGGCAGGAGTGGGG AGAAGGGTAAGGTGGCGTCCGGCAGGGCAGGAGTGGGGAGAAGGGTAAGG TGGCATCCGGCAGGGCAGGAGGGGAGAAGGGTAAGGTGGCATCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(215): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCC CCCATCCCATCCCCCACCCCATCCCCGTCCCCCGTCCCCATCCCCCATCC CCCATCCCCATCCCCCGTCCCCCGTCCCCATCTCCTGTCCCCCGTCCCCC ATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	452	0.0022	222	c.757 others(237): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCATCTCCTGTCCCCCGTCCCCATC CCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCATCCCCGTCCCCCGT CCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCATCTCC TGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(215): Show GCCCACCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCC ATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCC CCCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCATCTCCT GTCCCCCGTCCCCATCCCCCGTCCCCATCCCCCCACCCCCATCCCCCACC CCCACCCATCCCCCAGCCCCACC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02896.hp2 others(1): Show HG01884.hp2 HG01891.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0024 a0001c0001t0007g0137 a0001c0001t0007g0139 a0001c0001t0007g0024 a0001c0001t0007g0137 a0001c0001t0007g0139	4	452	0.0089	222	c.757 others(237): Show c.757-202_757-201insCCCCATCCCCCGTCCCCCGTCCCCCATCTC CTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCAC CCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCATCCCC CGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCATCCCCCCA CCCCCATCCCCCACCCCCACCCATCCCCCAGCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6450775	A A	ATATATAC others(215): Show ATATATACATATATATATGTATATATATATATACATATATATATGTATAT ATATATATACATATATATATGTATATATATATACACATATATATGTATAT ATATATACATATATATATGTATATATATATATATATGTATATATATATAT ACATATATGTATATATATATACATATATATGTATATATATACATATATGT ATATATATATACATATATATATG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0011 a0001c0001t0016g0011	1	68	0.0147	222	c.-64 others(243): Show c.-64+133724_-64+133725insCATATATATATGTATATATATATA TACATATATATATGTATATATATATATACATATATATATGTATATATATA TACACATATATATGTATATATATATACATATATATATGTATATATATATA TATATGTATATATATATATACATATATGTATATATATATACATATATATG TATATATATACATATATGTATATATATATACATATATATATGTATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79554286	T T	TCCTCTCC others(215): Show TCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCT CACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCAC CCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCC CTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCA CTCACAGTCACCCCTCACCTGGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02056.hp1 NA18966.hp1 HG01175.hp2 HG02056.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0022 a0001c0001t0007 a0001c0001t0022	a0001c0001t0007g0001 a0001c0001t0007g0039 a0001c0001t0022g0141 a0001c0001t0007g0001 a0001c0001t0007g0039 a0001c0001t0022g0141	3	154	0.0195	222	c.-32 others(243): Show c.-320+56539_-320+56540insGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554445	T T	TTCACTCA others(215): Show TTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTC ACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGG CCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTT CACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCAC CCCTCACCTGGCCCTCTCCATCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	154	0.0065	222	c.-32 others(243): Show c.-320+56380_-320+56381insGGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGA AGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554445	T T	TTCACTCA others(215): Show TTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTC ACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGG CCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCT CACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCAC CCCTCACCTGGCCCTCTCCATCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG02922.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0002g0108 a0001c0001t0001g0067 a0001c0001t0002g0108	2	154	0.0130	222	c.-32 others(243): Show c.-320+56380_-320+56381insGGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTG ACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(215): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	154	0.0065	222	c.-32 others(243): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar

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