Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRKCE_chr2_45646675_46192990	45690264	CATCTAAG others(10): Show CATCTAAGTTAAAAAGAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG01891.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0002g0162 a0001c0001t0001g0061 a0001c0001t0002g0162	2	168	0.0119	-17	c.348 others(36): Show c.348+37817_348+37833delATCTAAGTTAAAAAGAT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14			chr2	TogoVar
PRKCE_chr2_45646675_46192990	45741630	CGTTTTGG others(10): Show CGTTTTGGGCATGTGCAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG01981.hp2 others(12): Show HG00741.hp2 HG01884.hp2 HG01981.hp2 HG02145.hp1 HG02145.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03209.hp2 HG03453.hp2 HG03579.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0005t0004 a0001c0006t0001 a0002c0004t0004	a0001c0001t0001g0075 a0001c0001t0001g0142 a0001c0001t0002g0019 others(12): Show a0001c0001t0001g0075 a0001c0001t0001g0142 a0001c0001t0002g0019 a0001c0001t0002g0053 a0001c0001t0002g0068 a0001c0001t0002g0088 a0001c0001t0002g0100 a0001c0001t0002g0119 a0001c0001t0004g0063 a0001c0001t0004g0101 a0001c0001t0011g0087 a0001c0001t0013g0112 a0001c0005t0004g0167 a0001c0006t0001g0048 a0002c0004t0004g0077	15	168	0.0893	-17	c.348 others(36): Show c.348+89192_348+89208delATGTGCAAGTTTTGGGC	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45831899	ATAACCCA others(10): Show ATAACCCAAATGAAACTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(58): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01981.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG03239.hp1 HG03453.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18959.hp2 NA18979.hp2 NA18995.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19074.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0017 a0001c0003t0001 a0001c0006t0001 a0001c0007t0022 a0001c0010t0001 a0002c0004t0004	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(58): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0002g0008 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0080 a0001c0001t0002g0092 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0003g0015 a0001c0001t0003g0051 a0001c0001t0003g0072 a0001c0001t0003g0103 a0001c0001t0004g0133 a0001c0001t0005g0083 a0001c0001t0005g0085 a0001c0001t0006g0147 a0001c0001t0007g0022 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0008g0078 a0001c0001t0008g0079 a0001c0001t0008g0156 a0001c0001t0009g0027 a0001c0001t0010g0098 a0001c0001t0011g0087 a0001c0001t0012g0025 a0001c0001t0013g0062 a0001c0001t0020g0064 a0001c0001t0021g0038 a0001c0001t0025g0024 a0001c0002t0001g0018 a0001c0002t0001g0089 a0001c0002t0001g0105 a0001c0002t0001g0121 a0001c0002t0001g0152 a0001c0002t0002g0046 a0001c0002t0003g0009 a0001c0002t0003g0041 a0001c0002t0005g0107 a0001c0002t0005g0120 a0001c0002t0017g0143 a0001c0003t0001g0036 a0001c0003t0001g0073 a0001c0003t0001g0084 a0001c0006t0001g0048 a0001c0007t0022g0032 a0001c0010t0001g0129 a0002c0004t0004g0065 a0002c0004t0004g0077	61	168	0.3631	-17	c.349 others(36): Show c.349-11099_349-11083delAACCCAAATGAAACTTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45958806	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	168	0.0060	-17	c.413 others(36): Show c.413-17621_413-17605delATATATATATTTTTTTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCG_chr19_53877197_53912652	53878641	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0027 a0001c0007t0004g0027	1	362	0.0028	-17	c.-38 others(28): Show c.-3853_-3837delAAAAAAAAAATATATAT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding		3555		chr19	TogoVar
PRKCG_chr19_53877197_53912652	53887497	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp1 HG02886.hp1 HG03453.hp1	a0001 a0001	a0001c0025 a0001c0026 a0001c0025 a0001c0026	a0001c0025t0005 a0001c0026t0005 a0001c0025t0005 a0001c0026t0005	a0001c0025t0005g0148 a0001c0026t0005g0046 a0001c0025t0005g0148 a0001c0026t0005g0046	2	362	0.0055	-17	c.286 others(34): Show c.286-2119_286-2103delAAAAAAAAAAAAAAAAA	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCQ_chr10_6422148_6585276	6517588	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	252	0.0040	-17	c.-9- others(32): Show c.-9-2461_-9-2445delAAAAAAAAAAAAAAAAA	PRKCQ	ENSG00000065675.16	transcript	ENST00000263125.10	protein_coding	1/17			chr10	TogoVar
PRKCQ_chr10_6422148_6585276	6570542	CTAAGGGG others(10): Show CTAAGGGGCTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04228.hp1 NA18942.hp1 others(6): Show HG02602.hp2 HG04228.hp1 NA18942.hp1 NA18969.hp2 NA19000.hp1 NA19012.hp2 NA19081.hp2 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0003t0003 a0001c0003t0017	a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0149 others(6): Show a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0207 a0001c0001t0010g0151 a0001c0001t0015g0035 a0001c0003t0003g0215 a0001c0003t0017g0092	9	252	0.0357	-17	c.-10 others(34): Show c.-10+9652_-10+9668delAAAAAAGAAGCCCCTTA	PRKCQ	ENSG00000065675.16	transcript	ENST00000263125.10	protein_coding	1/17			chr10	TogoVar
PRKCZ_chr1_2045411_2190395	2106753	CCCTCTGG others(10): Show CCCTCTGGTGGGCGAGGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp1 others(27): Show HG01243.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0017 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0104 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0002g0026 a0001c0001t0008g0241 a0001c0001t0017g0019 a0001c0003t0001g0135 a0001c0003t0002g0021	30	286	0.1049	-17	c.335 others(36): Show c.335-28504_335-28488delTGGTGGGCGAGGACCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2180369	GTGGACGC others(10): Show GTGGACGCACAGACGACA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	286	0.0035	-17	c.157 others(36): Show c.1576-4198_1576-4182delCATGGACGCACAGACGA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2180495	CGGACGCA others(10): Show CGGACGCACAGATGACGT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02717.hp1 HG01169.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0201 a0001c0003t0001g0130 a0001c0001t0001g0201 a0001c0003t0001g0130	2	286	0.0070	-17	c.157 others(36): Show c.1576-4062_1576-4046delAGATGACGTGGACGCAC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD1_chr14_29571479_29932847	29616566	CCCAAGTA others(10): Show CCCAAGTAGCTGAGACTA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	156	0.0064	-17	c.190 others(36): Show c.1905+7569_1905+7585delTAGTCTCAGCTACTTGG	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	13/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29767145	TCTCCTAC others(10): Show TCTCCTACAACAAAAAAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0147 a0001c0002t0003g0147	1	156	0.0064	-17	c.265 others(36): Show c.265-41488_265-41472delGTTTTTTGTTGTAGGAG	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29808373	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	156	0.0064	-17	c.265 others(36): Show c.265-82716_265-82700delAAAAAAAAAAAAAAAAA	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKD3_chr2_37245502_37329833	37287230	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02280.hp2 HG01361.hp2 HG02280.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0014 a0001c0003 a0005c0014	a0001c0003t0006 a0005c0014t0006 a0001c0003t0006 a0005c0014t0006	a0001c0003t0006g0131 a0005c0014t0006g0132 a0001c0003t0006g0131 a0005c0014t0006g0132	2	388	0.0052	-17	c.718 others(32): Show c.718-878_718-862delTTTTTTTTTTTTTTTTT	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding	5/18			chr2	TogoVar
PRKG1_chr10_51069487_52303350	51601721	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0023 a0001c0001t0007g0007 a0001c0001t0003g0023 a0001c0001t0007g0007	2	64	0.0313	-17	c.592 others(38): Show c.592+133917_592+133933delTTTTTTTTTTTTTTTTT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51639436	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00735.hp1 others(12): Show HG00140.hp1 HG00140.hp2 HG00735.hp1 HG01099.hp1 HG01192.hp2 HG01496.hp1 HG02615.hp2 HG02896.hp1 HG03486.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 NA18522.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0005t0002 a0002c0004t0001 a0002c0004t0004	a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0057 others(12): Show a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0003g0001 a0001c0001t0003g0060 a0001c0001t0004g0035 a0001c0001t0005g0031 a0001c0001t0005g0061 a0001c0001t0009g0039 a0001c0005t0002g0037 a0002c0004t0001g0044 a0002c0004t0004g0053	15	64	0.2344	-17	c.593 others(38): Show c.593-165123_593-165107delAAAAAAAAAAAAAAAAA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51819006	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp2 HG03688.hp1 HG00735.hp2 HG01496.hp2 HG03688.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0009 a0001c0001 a0001c0005 a0003c0009	a0001c0001t0001 a0001c0005t0002 a0003c0009t0001 a0001c0001t0001 a0001c0005t0002 a0003c0009t0001	a0001c0001t0001g0048 a0001c0005t0002g0037 a0003c0009t0001g0049 a0001c0001t0001g0048 a0001c0005t0002g0037 a0003c0009t0001g0049	3	64	0.0469	-17	c.698 others(36): Show c.698+14337_698+14353delAAAAAAAAAAAAAAAAA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51830548	GTTTTTTT others(10): Show GTTTTTTTTTTTGTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02922.hp2 HG03579.hp1 others(2): Show HG02886.hp2 HG02922.hp2 HG03579.hp1 HG03834.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0062 a0001c0001t0002g0005 a0001c0001t0002g0059 others(2): Show a0001c0001t0001g0062 a0001c0001t0002g0005 a0001c0001t0002g0059 a0001c0001t0003g0009 a0001c0001t0008g0027	5	64	0.0781	-17	c.698 others(36): Show c.698+25870_698+25886delGTTTTTTTTTTTTTTTT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52131816	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	1	64	0.0156	-17	c.936 others(34): Show c.936-2010_936-1994delAAAAAAAAAAAAAAAAA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161703835	CTCTCTTT others(10): Show CTCTCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0012 a0005c0011t0012	a0005c0011t0012g0009 a0005c0011t0012g0009	1	32	0.0313	-17	c.871 others(36): Show c.871+81920_871+81936delAAAAAAAAAAAAAGAGA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161821719	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	32	0.0313	-17	c.735 others(36): Show c.735-35828_735-35812delAAAAAAAAAAAAAAAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162281915	CCACCTCA others(10): Show CCACCTCAGATCATCAGG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0008 a0002c0002t0009g0008	1	32	0.0313	-17	c.172 others(36): Show c.172-19167_172-19151delCCTGATGATCTGAGGTG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162472990	CTCATACT others(10): Show CTCATACTTATTTTTATA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03041.hp1 NA18522.hp2 HG02897.hp1 HG03041.hp1 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0003 a0001c0001t0008 a0006c0010t0005 a0001c0001t0003 a0001c0001t0008 a0006c0010t0005	a0001c0001t0003g0022 a0001c0001t0008g0010 a0006c0010t0005g0013 a0001c0001t0003g0022 a0001c0001t0008g0010 a0006c0010t0005g0013	3	32	0.0938	-17	c.8-2 others(32): Show c.8-29534_8-29518delTATAAAAATAAGTATGA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162534989	TTCCCCAG others(10): Show TTCCCCAGTCCTCTTCCA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0005 a0006c0010t0005	a0006c0010t0005g0013 a0006c0010t0005g0013	1	32	0.0313	-17	c.8-9 others(32): Show c.8-91533_8-91517delTGGAAGAGGACTGGGGA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162584843	CCCTCCCC others(10): Show CCCTCCCCTGTCCCATCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 NA18522.hp2 HG02922.hp2 HG02976.hp2 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0002 a0006c0010t0005 a0001c0001t0002 a0006c0010t0005	a0001c0001t0002g0005 a0001c0001t0002g0023 a0006c0010t0005g0013 a0001c0001t0002g0005 a0001c0001t0002g0023 a0006c0010t0005g0013	3	32	0.0938	-17	c.8-1 others(34): Show c.8-141387_8-141371delAGATGGGACAGGGGAGG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKX_chrX_3599340_3718649	3659717	GTTTTTTT others(10): Show GTTTTTTTTTTTGTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0063 a0001c0001t0068g0063	1	227	0.0044	-17	c.336 others(34): Show c.336-4322_336-4306delAAAAACAAAAAAAAAAA	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	2/8			chrX	TogoVar
PRLH_chr2_237561574_237572175	237563185	TATACTAA others(10): Show TATACTAAAATTGGACCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	404	0.0025	-17	c.-33 others(28): Show c.-3388_-3372delATACTAAAATTGGACCG	PRLH	ENSG00000071677.1	transcript	ENST00000165524.1	protein_coding		3388		chr2	TogoVar
PRLR_chr5_35050702_35235487	35191048	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03688.hp2 HG02602.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0086 a0001c0001t0036g0085 a0001c0001t0001g0086 a0001c0001t0036g0085	2	214	0.0094	-17	c.-10 others(38): Show c.-106+39203_-106+39219delAAAAAAAAAAAAAAAAA	PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	1/9			chr5	TogoVar
PRMT5_chr14_22915529_22934376	22932949	ACTTGTTA others(10): Show ACTTGTTAGATGTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG03130.hp2 HG01109.hp1 HG02647.hp1 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0054 a0001c0003t0001g0030 a0001c0003t0001g0054	3	364	0.0082	-17	c.-36 others(28): Show c.-3605_-3589delAAAAAACATCTAACAAG	PRMT5	ENSG00000100462.16	transcript	ENST00000324366.13	protein_coding		3574		chr14	TogoVar
PROCA1_chr17_28698197_28716888	28706931	GTGGGGCT others(10): Show GTGGGGCTATGAGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	320	0.0031	-17	c.92- others(30): Show c.92-185_92-169delTCCCCCTCATAGCCCCA	PROCA1	ENSG00000167525.16	transcript	ENST00000682792.1	protein_coding	1/4			chr17	TogoVar
PROCA1_chr17_28698197_28716888	28711396	CCCCCGGC others(10): Show CCCCCGGCCCTAGCTCCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00609.hp2 others(54): Show HG00140.hp2 HG00408.hp1 HG00609.hp2 HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG02015.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02818.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18906.hp1 NA18946.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18978.hp1 NA18980.hp1 NA18982.hp1 NA19000.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19067.hp1 NA19075.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0011 a0005c0010 a0001c0001 a0001c0011 a0005c0010	a0001c0001t0001 a0001c0011t0001 a0005c0010t0001 a0001c0001t0001 a0001c0011t0001 a0005c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0018 others(31): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0011t0001g0186 a0005c0010t0001g0188	57	320	0.1781	-17	c.91+ others(30): Show c.91+157_91+173delCGGAGCTAGGGCCGGGG	PROCA1	ENSG00000167525.16	transcript	ENST00000682792.1	protein_coding	1/4			chr17	TogoVar
PROC_chr2_127413427_127434242	127430465	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(173): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18982.hp1 NA18986.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0010 a0001c0014 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0007t0001 a0001c0008t0002 a0001c0010t0001 a0001c0014t0001 a0002c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0002g0024 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0004g0005 a0001c0002t0001g0012 a0001c0002t0001g0056 a0001c0007t0001g0001 a0001c0008t0002g0081 a0001c0008t0002g0082 a0001c0010t0001g0008 a0001c0014t0001g0005 a0002c0013t0001g0001	176	418	0.4211	-17	c.15 others(28): Show c.1520_*1536delTTTTTTTTTTTTTTTTT	PROC	ENSG00000115718.18	transcript	ENST00000234071.8	protein_coding		1224		chr2	TogoVar
PRODH_chr22_18907781_18941293	18930885	TGCCCAGC others(10): Show TGCCCAGCTGAGGCTGAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	409	0.0024	-17	c.482 others(31): Show c.482+88_482+104delTTCAGCCTCAGCTGGGC	PRODH	ENSG00000100033.17	transcript	ENST00000357068.11	protein_coding	2/13			chr22	TogoVar
PROK2_chr3_71766655_71790148	71767013	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01255.hp2 HG02040.hp1 others(2): Show HG01167.hp1 HG01255.hp2 HG02040.hp1 HG02630.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011	a0001c0001t0003g0024 a0001c0001t0005g0007 a0001c0001t0011g0050 a0001c0001t0003g0024 a0001c0001t0005g0007 a0001c0001t0011g0050	5	438	0.0114	-17	c.56 others(28): Show c.5694_*5710delTTTTTTTTTTTTTTTTT	PROK2	ENSG00000163421.9	transcript	ENST00000295619.4	protein_coding		4641		chr3	TogoVar
PROK2_chr3_71766655_71790148	71768440	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0114 a0001c0001t0008g0114	1	438	0.0023	-17	c.42 others(28): Show c.4267_*4283delTTTTTTTTTTTTTTTTT	PROK2	ENSG00000163421.9	transcript	ENST00000295619.4	protein_coding		3214		chr3	TogoVar
PROK2_chr3_71766655_71790148	71789593	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0138 a0001c0001t0016g0138	1	438	0.0023	-17	c.-45 others(28): Show c.-4558_-4542delTTTTTTTTTTTTTTTTT	PROK2	ENSG00000163421.9	transcript	ENST00000295619.4	protein_coding		4446		chr3	TogoVar
PRORP_chr14_35117552_35282622	35170399	TTTTAAAA others(10): Show TTTTAAAAAATTTTATCA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0138 a0001c0002t0003g0138	1	314	0.0032	-17	c.116 others(38): Show c.1168-10270_1168-10254delTTTAAAAAATTTTATCA	PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	4/7			chr14	TogoVar
PRORP_chr14_35117552_35282622	35174733	ATTCTTCT others(10): Show ATTCTTCTTTTTTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp2 HG03669.hp2 HG00735.hp2 HG01255.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0155 a0001c0001t0011g0310 a0001c0001t0011g0154 a0001c0001t0011g0155 a0001c0001t0011g0310	3	314	0.0096	-17	c.116 others(36): Show c.1168-5934_1168-5918delCTTCTTTTTTTTTTCTT	PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
PROSER2_chr10_11818356_11877277	11840944	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp1 NA19030.hp2 HG02647.hp1 HG02970.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0237 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0237	3	348	0.0086	-17	c.-81 others(36): Show c.-81-11051_-81-11035delAAAAAAAAAAATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROX2_chr14_74848033_74881145	74868343	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	384	0.0026	-17	c.-17 others(36): Show c.-175+2743_-175+2759delATATATATATATATATA	PROX2	ENSG00000119608.15	transcript	ENST00000556489.4	protein_coding	2/5			chr14	TogoVar
PRPF4_chr9_113270658_113297905	113285343	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02738.hp2 HG03540.hp1 others(3): Show HG01261.hp2 HG02738.hp2 HG03540.hp1 NA18995.hp1 NA19068.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0082 a0001c0001t0001g0156 a0001c0001t0001g0180 others(3): Show a0001c0001t0001g0082 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0004g0094	6	426	0.0141	-17	c.750 others(32): Show c.750-852_750-836delTTTTTTTTTTTTTTTTT	PRPF4	ENSG00000136875.13	transcript	ENST00000374198.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRPF6_chr20_63976132_64038100	64025612	CCCATTCA others(10): Show CCCATTCAGGGGCTTTGA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0067 a0001c0008t0002g0067	1	294	0.0034	-17	c.190 others(34): Show c.1909-326_1909-310delCCATTCAGGGGCTTTGA	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	14/20			chr20	TogoVar
PRPS1_chrX_107623510_107656026	107623558	TTCTTTTC others(10): Show TTCTTTTCTTTCTTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00323.hp1 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0111 a0001c0001t0001g0004 a0001c0001t0001g0111	2	245	0.0082	-17	c.-50 others(28): Show c.-5070_-5054delTCTTTTCTTTCTTTTTC	PRPS1	ENSG00000147224.13	transcript	ENST00000372435.10	protein_coding		4951		chrX	TogoVar
PRPS1_chrX_107623510_107656026	107655905	TGGGTGTG others(10): Show TGGGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp2 others(12): Show HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00733.hp2 HG01071.hp1 HG01255.hp1 HG01361.hp1 HG01517.hp1 HG01981.hp2 HG02735.hp1 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0058 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0137	15	245	0.0612	-17	c.58 others(28): Show c.5874_*5890delGGGTGTGTGTGTGTGTG	PRPS1	ENSG00000147224.13	transcript	ENST00000372435.10	protein_coding		4880		chrX	TogoVar
PRPSAP2_chr17_18853131_18936287	18917572	ATTATTAT others(10): Show ATTATTATTATTATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02897.hp2 others(1): Show HG02895.hp1 HG02896.hp1 HG02897.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0192 others(1): Show a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0193	4	392	0.0102	-17	c.733 others(34): Show c.733+6324_734-6323delATTATTATTATTTTTTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18917575	ATTATTAT others(10): Show ATTATTATTATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp1 HG02055.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0189 a0001c0001t0006g0194 a0001c0001t0006g0189 a0001c0001t0006g0194	2	392	0.0051	-17	c.733 others(34): Show c.733+6327_734-6320delATTATTATTTTTTTTTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRR14L_chr22_31676347_31755132	31677597	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0020	a0004c0004t0020g0031 a0004c0004t0020g0031	1	316	0.0032	-17	c.79 others(28): Show c.7913_*7929delATATATATATTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3749		chr22	TogoVar
PRR14L_chr22_31676347_31755132	31677599	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0303 a0004c0004t0005g0303	1	316	0.0032	-17	c.79 others(28): Show c.7911_*7927delATATATATATATTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3747		chr22	TogoVar
PRR14L_chr22_31676347_31755132	31677601	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02004.hp1 HG02273.hp2 HG01261.hp2 HG02004.hp1 HG02273.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0029 a0004c0004t0005g0030 a0004c0004t0005g0196 a0004c0004t0005g0029 a0004c0004t0005g0030 a0004c0004t0005g0196	3	316	0.0095	-17	c.79 others(28): Show c.7909_*7925delATATATATATATATTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3745		chr22	TogoVar

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