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 per page.

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
PAH_chr12_102831889_102922244	102871936	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02895.hp2 HG02280.hp2 HG02895.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0031 a0001c0007t0010g0033 a0001c0007t0010g0031 a0001c0007t0010g0033	2	312	0.0064	-19	c.442 others(36): Show c.442-5292_442-5274delATATATTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAK1_chr11_77317017_77479094	77429076	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18973.hp1 NA19043.hp1 HG02109.hp2 NA18973.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0003g0281 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0003g0281	3	302	0.0099	-19	c.-21 others(38): Show c.-21-36554_-21-36536delGTTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK5_chr20_9532370_9844076	9766503	TATATATA others(12): Show TATATATATATTCAAGCAGA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0007 a0002c0001t0005g0007	1	208	0.0048	-19	c.-16 others(40): Show c.-161-55087_-161-55069delTCTGCTTGAATATATATAT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PALB2_chr16_23598165_23646310	23645118	TATATATA others(12): Show TATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0221 a0003c0003t0001g0221	1	326	0.0031	-19	c.-39 others(30): Show c.-3980_-3962delTATATATATATATATATAT	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3809		chr16	TogoVar
PALD1_chr10_70473767_70573450	70545047	GCAGGTGC others(12): Show GCAGGTGCCAGGCACCACTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02622.hp1 others(7): Show HG00639.hp1 HG01884.hp1 HG02622.hp1 HG02630.hp2 HG02895.hp2 HG03098.hp2 HG03139.hp1 HG03486.hp2 NA20129.hp2 NA21309.hp2	a0001 a0008 a0011 others(1): Show a0001 a0008 a0011 a0015	a0001c0001 a0008c0012 a0008c0034 others(2): Show a0001c0001 a0008c0012 a0008c0034 a0011c0016 a0015c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0008c0012t0008 a0008c0034t0008 a0011c0016t0008 a0011c0016t0015 a0015c0035t0009	a0001c0001t0001g0245 a0001c0001t0002g0188 a0001c0001t0008g0123 others(7): Show a0001c0001t0001g0245 a0001c0001t0002g0188 a0001c0001t0008g0123 a0001c0001t0015g0279 a0008c0012t0008g0127 a0008c0012t0008g0244 a0008c0034t0008g0206 a0011c0016t0008g0220 a0011c0016t0015g0230 a0015c0035t0009g0185	10	308	0.0325	-19	c.212 others(38): Show c.2122-2250_2122-2232delAGGCACCACTCCAGGTGCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168759203	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0048 a0001c0004t0017g0048	1	156	0.0064	-19	c.196 others(40): Show c.1964+47281_1964+47299delTATATATATATATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21			chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109922421	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19066.hp2 HG00609.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0081 a0002c0004t0002g0083 a0001c0001t0002g0081 a0002c0004t0002g0083	2	222	0.0090	-19	c.258 others(36): Show c.258-1296_258-1278delAAAAAAAAAAAAAAAAAAA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110014798	AAAAAAAT others(12): Show AAAAAAATGTATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02723.hp2 HG03195.hp1 HG01261.hp2 HG02723.hp2 HG03195.hp1	a0005 a0006 a0008 a0005 a0006 a0008	a0005c0008 a0006c0009 a0008c0010 a0005c0008 a0006c0009 a0008c0010	a0005c0008t0006 a0006c0009t0014 a0008c0010t0012 a0005c0008t0006 a0006c0009t0014 a0008c0010t0012	a0005c0008t0006g0159 a0006c0009t0014g0217 a0008c0010t0012g0201 a0005c0008t0006g0159 a0006c0009t0014g0217 a0008c0010t0012g0201	3	222	0.0135	-19	c.497 others(36): Show c.497-1154_497-1136delAAAAATGTATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110014800	AAAAATGT others(12): Show AAAAATGTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG02622.hp1 others(3): Show HG01243.hp2 HG02486.hp1 HG02622.hp1 HG02976.hp1 HG02976.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0001 a0001c0001t0008 a0001c0001t0036 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0036 a0001c0006t0007 a0003c0003t0001	a0001c0001t0001g0031 a0001c0001t0001g0214 a0001c0001t0008g0215 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0214 a0001c0001t0008g0215 a0001c0001t0036g0203 a0001c0006t0007g0190 a0003c0003t0001g0001	6	222	0.0270	-19	c.497 others(36): Show c.497-1152_497-1134delAAATGTATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110014802	AAATGTAT others(12): Show AAATGTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00733.hp1 others(18): Show HG00423.hp1 HG00609.hp1 HG00733.hp1 HG01099.hp1 HG01175.hp2 HG01192.hp1 HG01975.hp1 HG02155.hp1 HG02602.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18968.hp1 NA18971.hp2 NA18992.hp2 NA19002.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp2 NA19086.hp1 NA19087.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0019 a0002c0002t0021 a0002c0002t0023 a0003c0003t0001	a0001c0001t0001g0028 a0001c0001t0001g0074 a0001c0001t0001g0175 others(18): Show a0001c0001t0001g0028 a0001c0001t0001g0074 a0001c0001t0001g0175 a0001c0001t0002g0036 a0001c0001t0002g0057 a0001c0001t0002g0115 a0001c0001t0002g0121 a0001c0001t0009g0069 a0002c0002t0001g0050 a0002c0002t0003g0014 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0004g0152 a0002c0002t0004g0176 a0002c0002t0004g0177 a0002c0002t0004g0212 a0002c0002t0019g0047 a0002c0002t0021g0019 a0002c0002t0023g0055 a0003c0003t0001g0035 a0003c0003t0001g0066	21	222	0.0946	-19	c.497 others(36): Show c.497-1150_497-1132delATGTATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99650285	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00639.hp2 others(48): Show HG00280.hp2 HG00438.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02109.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp2 HG02300.hp1 HG02602.hp1 HG02738.hp1 HG02922.hp2 HG03516.hp1 HG03834.hp2 HG04184.hp1 NA18612.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18951.hp2 NA18954.hp2 NA18964.hp2 NA18967.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA19002.hp1 NA19011.hp1 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19079.hp2 NA19082.hp2 NA19088.hp1 NA19091.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0013 a0001c0001 a0001c0002 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0008c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0036 others(47): Show a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0117 a0001c0001t0001g0138 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0228 a0001c0001t0001g0345 a0001c0001t0001g0361 a0001c0001t0002g0343 a0001c0002t0001g0312 a0008c0013t0001g0344	51	380	0.1342	-19	c.45+ others(34): Show c.45+3939_45+3957delAAAAAAAAAAAAAAAAAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99652721	AAAAGAAA others(12): Show AAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02809.hp1 others(5): Show HG02572.hp2 HG02647.hp2 HG02809.hp1 HG03471.hp1 HG03486.hp1 NA18948.hp2 NA18955.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0197 a0001c0001t0001g0255 others(5): Show a0001c0001t0001g0118 a0001c0001t0001g0197 a0001c0001t0001g0255 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0363	8	380	0.0211	-19	c.45+ others(34): Show c.45+6368_45+6386delGAAAAGAAAAGAAAGAAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALS1_chr14_67236435_67341061	67284547	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0283 a0001c0001t0026g0283	1	290	0.0035	-19	c.367 others(36): Show c.367+5033_367+5051delAAAAAAAAAAAAAAAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAM16_chr16_4335251_4356321	4351142	CCGCCGCC others(12): Show CCGCCGCCCAGCCCGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03704.hp1 HG01361.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0244 a0001c0001t0001g0245	2	367	0.0055	-19	c.3+7 others(28): Show c.3+71_3+89delAGCTCCGGGCTGGGCGGCG	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM_chr5_102750305_103034716	102758068	ATTTTGTT others(12): Show ATTTTGTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00621.hp2 others(52): Show HG00423.hp1 HG00597.hp1 HG00621.hp2 HG00738.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp2 HG02572.hp1 HG02630.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18947.hp1 NA18957.hp2 NA18964.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19004.hp2 NA19010.hp2 NA19056.hp1 NA19057.hp2 NA19068.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA20905.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0005t0002 a0002c0004t0003 a0007c0010t0004	a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0057 others(52): Show a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0093 a0001c0001t0006g0083 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0064 a0001c0002t0002g0074 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0004g0044 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0067 a0001c0002t0004g0071 a0001c0002t0004g0072 a0001c0002t0004g0073 a0001c0002t0004g0077 a0001c0002t0004g0078 a0001c0002t0004g0088 a0001c0002t0004g0090 a0001c0002t0004g0091 a0001c0002t0004g0095 a0001c0002t0005g0081 a0001c0005t0002g0046 a0002c0004t0003g0069 a0007c0010t0004g0094	55	188	0.2926	-19	c.-37 others(38): Show c.-374+2725_-374+2743delGTTTTTTTTTTTTTTTTTT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102758073	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	188	0.0053	-19	c.-37 others(38): Show c.-374+2742_-374+2760delTTTTTTTTTTTTTTTTTTT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PANK1_chr10_89577988_89650242	89595830	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0238 a0001c0007t0001g0238	1	366	0.0027	-19	c.900 others(36): Show c.900-1860_900-1842delATATATATATATATATTTT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar
PANK2_chr20_3884387_3934887	3926878	GTTGCTGC others(12): Show GTTGCTGCAGTGAGCCGAGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 HG02280.hp2 HG02572.hp1 others(19): Show HG01433.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA19030.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0015 a0001c0001t0028 a0001c0001t0033 others(8): Show a0001c0001t0015 a0001c0001t0028 a0001c0001t0033 a0001c0001t0074 a0001c0001t0075 a0001c0001t0112 a0001c0001t0113 a0001c0001t0140 a0001c0001t0141 a0001c0004t0044 a0001c0004t0094	a0001c0001t0015g0300 a0001c0001t0015g0301 a0001c0001t0015g0302 others(19): Show a0001c0001t0015g0300 a0001c0001t0015g0301 a0001c0001t0015g0302 a0001c0001t0015g0303 a0001c0001t0015g0306 a0001c0001t0015g0307 a0001c0001t0015g0308 a0001c0001t0028g0213 a0001c0001t0028g0215 a0001c0001t0028g0216 a0001c0001t0033g0057 a0001c0001t0033g0058 a0001c0001t0033g0195 a0001c0001t0074g0299 a0001c0001t0075g0214 a0001c0001t0112g0305 a0001c0001t0113g0304 a0001c0001t0140g0194 a0001c0001t0141g0196 a0001c0004t0044g0191 a0001c0004t0044g0192 a0001c0004t0094g0193	22	422	0.0521	-19	c.35 others(30): Show c.3593_*3611delGTGAGCCGAGATTGCTGCA	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding	7/7	3593	INFO_REALIGN_3_PRIME	chr20	TogoVar
PANX2_chr22_50165731_50185295	50168098	ATGACTGA others(12): Show ATGACTGAGTTATCTGGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02080.hp2 NA18983.hp1 others(4): Show HG00423.hp2 HG02080.hp2 NA18983.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0001 a0002c0006t0001 a0001c0003t0001 a0002c0006t0001	a0001c0003t0001g0003 a0001c0003t0001g0111 a0002c0006t0001g0110 a0001c0003t0001g0003 a0001c0003t0001g0111 a0002c0006t0001g0110	7	440	0.0159	-19	c.-26 others(30): Show c.-2632_-2614delTGACTGAGTTATCTGGGGG	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		2632		chr22	TogoVar
PANX3_chr11_124606428_124625356	124616961	CTCTCTCT others(12): Show CTCTCTCTCTCTCTCCTTAT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	420	0.0024	-19	c.325 others(34): Show c.325-280_325-262delCCTTATTCTCTCTCTCTCT	PANX3	ENSG00000154143.3	transcript	ENST00000284288.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAPPA2_chr1_176458175_176850601	176794774	AAGGGCAT others(12): Show AAGGGCATGCTGGATGTGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(66): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18949.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0009	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0015 a0002c0004 a0002c0017 a0003c0005 a0004c0008 a0006c0013 a0009c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(43): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0037 a0001c0001t0039 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0001c0002t0028 a0001c0002t0035 a0001c0002t0042 a0001c0003t0003 a0001c0003t0029 a0001c0003t0030 a0001c0003t0032 a0001c0011t0043 a0001c0015t0008 a0002c0004t0014 a0002c0004t0016 a0002c0017t0019 a0003c0005t0009 a0003c0005t0022 a0004c0008t0003 a0006c0013t0007 a0009c0016t0008	a0001c0001t0001g0020 a0001c0001t0004g0029 a0001c0001t0005g0109 others(66): Show a0001c0001t0001g0020 a0001c0001t0004g0029 a0001c0001t0005g0109 a0001c0001t0006g0078 a0001c0001t0007g0079 a0001c0001t0007g0084 a0001c0001t0007g0092 a0001c0001t0010g0019 a0001c0001t0010g0106 a0001c0001t0010g0113 a0001c0001t0011g0055 a0001c0001t0011g0056 a0001c0001t0011g0067 a0001c0001t0012g0074 a0001c0001t0012g0105 a0001c0001t0013g0044 a0001c0001t0013g0062 a0001c0001t0017g0016 a0001c0001t0017g0107 a0001c0001t0018g0002 a0001c0001t0018g0024 a0001c0001t0020g0012 a0001c0001t0021g0071 a0001c0001t0023g0115 a0001c0001t0024g0037 a0001c0001t0025g0085 a0001c0001t0026g0036 a0001c0001t0027g0118 a0001c0001t0031g0117 a0001c0001t0037g0018 a0001c0001t0039g0108 a0001c0001t0047g0017 a0001c0001t0048g0112 a0001c0001t0050g0048 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0008g0013 a0001c0002t0008g0046 a0001c0002t0015g0005 a0001c0002t0015g0114 a0001c0002t0016g0068 a0001c0002t0028g0003 a0001c0002t0035g0021 a0001c0002t0042g0038 a0001c0003t0003g0041 a0001c0003t0003g0050 a0001c0003t0003g0051 a0001c0003t0003g0060 a0001c0003t0003g0075 a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0029g0080 a0001c0003t0030g0069 a0001c0003t0032g0057 a0001c0011t0043g0089 a0001c0015t0008g0093 a0002c0004t0014g0031 a0002c0004t0014g0042 a0002c0004t0016g0025 a0002c0017t0019g0004 a0003c0005t0009g0011 a0003c0005t0009g0028 a0003c0005t0009g0094 a0003c0005t0022g0111 a0004c0008t0003g0100 a0006c0013t0007g0110 a0009c0016t0008g0027	69	118	0.5848	-19	c.513 others(38): Show c.5130+1108_5130+1126delGGCATGCTGGATGTGAGAG	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA_chr9_116148791_116407321	116385263	AAATAAAT others(12): Show AAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03139.hp2 HG03017.hp1 HG03139.hp2	a0002 a0022 a0002 a0022	a0002c0004 a0022c0023 a0002c0004 a0022c0023	a0002c0004t0008 a0022c0023t0025 a0002c0004t0008 a0022c0023t0025	a0002c0004t0008g0009 a0022c0023t0025g0089 a0002c0004t0008g0009 a0022c0023t0025g0089	2	234	0.0086	-19	c.477 others(38): Show c.4776+2776_4776+2794delATAAATAAATAAATAATAA	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAQR3_chr4_78906878_78944438	78930757	GCCCCTCT others(12): Show GCCCCTCTTACTCAATCTAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(72): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00621.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG02040.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02559.hp1 HG02615.hp2 HG02723.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03540.hp1 HG03688.hp2 HG03831.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18980.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA19002.hp2 NA19005.hp2 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0050 a0001c0002t0003	a0001c0001t0003g0003 a0001c0001t0003g0034 a0001c0001t0003g0035 others(28): Show a0001c0001t0003g0003 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0004g0012 a0001c0001t0004g0019 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0005g0004 a0001c0001t0016g0032 a0001c0001t0016g0115 a0001c0001t0018g0117 a0001c0001t0018g0118 a0001c0001t0019g0033 a0001c0001t0024g0043 a0001c0001t0025g0044 a0001c0001t0033g0108 a0001c0001t0034g0109 a0001c0001t0050g0138 a0001c0002t0003g0099	75	334	0.2246	-19	c.349 others(34): Show c.349-451_349-433delATAGATTGAGTAAGAGGGG	PAQR3	ENSG00000163291.14	transcript	ENST00000512733.5	protein_coding	2/5			chr4	TogoVar
PAQR5_chr15_69293912_69412780	69300918	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02523.hp2 HG04184.hp1 others(4): Show HG00673.hp2 HG02523.hp2 HG04184.hp1 NA18964.hp1 NA18970.hp2 NA19064.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0002c0002t0002	a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0105 others(4): Show a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0105 a0001c0001t0008g0095 a0001c0001t0013g0113 a0001c0001t0016g0109 a0002c0002t0002g0076	7	284	0.0247	-19	c.-27 others(38): Show c.-277+1863_-277+1881delCTCTCTCTCTCTCTCTCTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8			chr15	TogoVar
PAQR5_chr15_69293912_69412780	69301859	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(67): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02683.hp1 HG02738.hp1 HG02809.hp1 HG03225.hp1 HG03516.hp1 HG03669.hp1 HG04204.hp1 NA18522.hp2 NA18941.hp1 NA18954.hp1 NA18957.hp1 NA18961.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009	a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 others(67): Show a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0094 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0008g0092 a0001c0001t0013g0113 a0001c0001t0016g0109 a0001c0001t0017g0053 a0001c0001t0022g0049 a0001c0003t0003g0083 a0001c0003t0003g0106 a0001c0003t0003g0118 a0002c0002t0001g0044 a0002c0002t0002g0004 a0002c0002t0002g0076 a0002c0002t0002g0085 a0002c0002t0002g0097 a0002c0002t0009g0050	70	284	0.2465	-19	c.-27 others(38): Show c.-277+2822_-277+2840delTTTTTTTTTTTTTTTTTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR9_chr3_142949585_142968674	142955442	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0000 a0001c0001t0070g0000	1	446	0.0022	-19	c.67 others(30): Show c.6742_*6760delTTTTTTTTTTTTTTTTTTT	PAQR9	ENSG00000188582.10	transcript	ENST00000340634.6	protein_coding	1/1	6742		chr3	TogoVar
PARD3B_chr2_204540475_205625162	204888358	GAAAGGGA others(12): Show GAAAGGGAGAGAGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02622.hp2 others(8): Show HG02109.hp1 HG02257.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0011	a0001c0004 a0002c0001 a0002c0003 others(7): Show a0001c0004 a0002c0001 a0002c0003 a0002c0015 a0003c0009 a0003c0010 a0004c0011 a0004c0026 a0006c0014 a0011c0024	a0001c0004t0014 a0002c0001t0001 a0002c0001t0004 others(8): Show a0001c0004t0014 a0002c0001t0001 a0002c0001t0004 a0002c0003t0008 a0002c0015t0017 a0003c0009t0009 a0003c0010t0006 a0004c0011t0005 a0004c0026t0004 a0006c0014t0001 a0011c0024t0003	a0001c0004t0014g0016 a0002c0001t0001g0042 a0002c0001t0004g0017 others(8): Show a0001c0004t0014g0016 a0002c0001t0001g0042 a0002c0001t0004g0017 a0002c0003t0008g0049 a0002c0015t0017g0015 a0003c0009t0009g0039 a0003c0010t0006g0021 a0004c0011t0005g0044 a0004c0026t0004g0041 a0006c0014t0001g0011 a0011c0024t0003g0014	11	54	0.2037	-19	c.223 others(38): Show c.223-76792_223-76774delAAGGGAGAGAGGGAGGGAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205322889	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02055.hp1 others(7): Show HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02630.hp1 HG03130.hp1 HG03195.hp1 NA18522.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0001c0006 a0002c0001 others(4): Show a0001c0002 a0001c0006 a0002c0001 a0003c0005 a0003c0010 a0004c0011 a0006c0014	a0001c0002t0001 a0001c0006t0007 a0002c0001t0001 others(6): Show a0001c0002t0001 a0001c0006t0007 a0002c0001t0001 a0002c0001t0004 a0003c0005t0001 a0003c0005t0005 a0003c0010t0006 a0004c0011t0005 a0006c0014t0001	a0001c0002t0001g0008 a0001c0006t0007g0013 a0002c0001t0001g0053 others(7): Show a0001c0002t0001g0008 a0001c0006t0007g0013 a0002c0001t0001g0053 a0002c0001t0004g0017 a0003c0005t0001g0010 a0003c0005t0001g0025 a0003c0005t0005g0045 a0003c0010t0006g0021 a0004c0011t0005g0044 a0006c0014t0001g0011	10	54	0.1852	-19	c.263 others(40): Show c.2630+21212_2630+21230delTTTTTTTTTTTTTTTTTTT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34129681	TTTTTGTA others(12): Show TTTTTGTAATGTCAAGCCTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0003 a0001c0004t0002g0003	1	100	0.0100	-19	c.354 others(38): Show c.3540+1763_3540+1781delGAGGCTTGACATTACAAAA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	23/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34355943	AAAACAAA others(12): Show AAAACAAAACAAAACCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	100	0.0100	-19	c.206 others(38): Show c.2067+3185_2067+3203delGTTTGGTTTTGTTTTGTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	14/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34371514	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01109.hp1 others(8): Show HG00735.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0018	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0002t0016 a0001c0003t0001 a0001c0004t0002 a0001c0011t0002 a0001c0018t0005	a0001c0001t0001g0084 a0001c0001t0005g0098 a0001c0002t0002g0002 others(8): Show a0001c0001t0001g0084 a0001c0001t0005g0098 a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0016g0025 a0001c0003t0001g0081 a0001c0004t0002g0028 a0001c0011t0002g0026 a0001c0018t0005g0093	11	100	0.1100	-19	c.170 others(36): Show c.1707+965_1707+983delGTTTTTTTTTTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	12/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34681754	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp1 HG02559.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0009 a0001c0001t0002 a0001c0002t0009	a0001c0001t0002g0016 a0001c0002t0009g0091 a0001c0001t0002g0016 a0001c0002t0009g0091	2	100	0.0200	-19	c.222 others(38): Show c.222+14545_222+14563delAAAAATATATATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34681756	ATATATAT others(12): Show ATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0017 a0001c0002t0007g0017	1	100	0.0100	-19	c.222 others(38): Show c.222+14543_222+14561delAAAAAAATATATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34681764	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0052 a0004c0016t0001g0052	1	100	0.0100	-19	c.222 others(38): Show c.222+14535_222+14553delAAAAAAAAAAAAAAATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD6B_chr20_50726580_50758741	50750954	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG04199.hp1 HG01074.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0001 a0001c0001t0029g0076 a0001c0001t0029g0001 a0001c0001t0029g0076	2	364	0.0055	-19	c.48 others(28): Show c.480_*498delTTTTTTTTTTTTTTTTTTT	PARD6B	ENSG00000124171.9	transcript	ENST00000371610.7	protein_coding	3/3	480	INFO_REALIGN_3_PRIME	chr20	TogoVar
PARD6G_chr18_80152232_80252514	80252444	GATTCATC others(12): Show GATTCATCAAATTCTGCCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	382	0.0026	-19	c.-51 others(30): Show c.-5115_-5097delATGGCAGAATTTGATGAAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding		4931		chr18	TogoVar
PARL_chr3_183824271_183889880	183882219	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp2 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0164 a0001c0001t0001g0165	2	358	0.0056	-19	c.125 others(36): Show c.125+2484_125+2502delATATATATATATATATTTT	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARL_chr3_183824271_183889880	183882223	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19001.hp1 NA18981.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0205 a0001c0001t0001g0211	2	358	0.0056	-19	c.125 others(36): Show c.125+2480_125+2498delATATATATATATATATATA	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARL_chr3_183824271_183889880	183882227	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp1 HG03486.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0001 a0002c0002t0001 a0002c0007t0001	a0002c0002t0001g0227 a0002c0007t0001g0226 a0002c0002t0001g0227 a0002c0007t0001g0226	2	358	0.0056	-19	c.125 others(36): Show c.125+2476_125+2494delAAATATATATATATATATA	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARN_chr16_14430701_14635260	14463329	AGGTAAAA others(12): Show AGGTAAAATTTATAATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0152 a0001c0001t0005g0152	1	169	0.0059	-19	c.167 others(40): Show c.1671-16267_1671-16249delATATATTATAAATTTTACC	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	22/23			chr16	TogoVar
PARP10_chr8_143972158_143991460	143980319	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02896.hp2 others(5): Show HG01884.hp2 HG02572.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03209.hp2 HG03471.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0003 a0002c0007t0003 a0002c0002t0003 a0002c0007t0003	a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0225 others(5): Show a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0225 a0002c0007t0003g0291 a0002c0007t0003g0292 a0002c0007t0003g0293 a0002c0007t0003g0294 a0002c0007t0003g0295	8	380	0.0211	-19	c.255 others(38): Show c.2557-2257_2557-2239delTTTTTTTTTTTTTTTTTTT	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP14_chr3_122675839_122735840	122703005	AAAAAACA others(12): Show AAAAAACAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp1 HG01169.hp1 others(7): Show HG00741.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01361.hp2 HG01934.hp1 HG02148.hp1 HG03209.hp1 HG06807.hp2 NA20805.hp1	a0003 a0013 a0003 a0013	a0003c0004 a0003c0015 a0013c0026 a0003c0004 a0003c0015 a0013c0026	a0003c0004t0003 a0003c0004t0006 a0003c0004t0019 others(2): Show a0003c0004t0003 a0003c0004t0006 a0003c0004t0019 a0003c0015t0018 a0013c0026t0003	a0003c0004t0003g0003 a0003c0004t0003g0155 a0003c0004t0003g0292 others(6): Show a0003c0004t0003g0003 a0003c0004t0003g0155 a0003c0004t0003g0292 a0003c0004t0006g0154 a0003c0004t0006g0158 a0003c0004t0006g0159 a0003c0004t0019g0156 a0003c0015t0018g0157 a0013c0026t0003g0003	10	366	0.0273	-19	c.308 others(36): Show c.3082-731_3082-713delCAAAAAAAAAAAACAAAAA	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP2_chr14_20338635_20362904	20347384	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02922.hp1 others(1): Show HG02257.hp2 HG02486.hp1 HG02922.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0151 a0001c0002t0001g0020 a0001c0001t0001g0151 a0001c0002t0001g0020	4	420	0.0095	-19	c.324 others(34): Show c.324+473_324+491delATATATATATATATTTTTT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP2_chr14_20338635_20362904	20347392	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	420	0.0024	-19	c.324 others(34): Show c.324+481_324+499delATATATTTTTTTTTTTTTT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP4_chr13_24415931_24517778	24437703	TCAGGTAT others(12): Show TCAGGTATTGTGGAGCATCC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0124 a0003c0003t0001g0124	1	362	0.0028	-19	c.366 others(38): Show c.3667-2248_3667-2230delGGATGCTCCACAATACCTG	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	30/33			chr13	TogoVar
PARP8_chr5_50661637_50851519	50740417	TTGGAGCA others(12): Show TTGGAGCATAGAGAGAACAG	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0039 a0001c0012t0039	a0001c0012t0039g0007 a0001c0012t0039g0007	1	328	0.0031	-19	c.147 others(36): Show c.147-9713_147-9695delGGAGCATAGAGAGAACAGT	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARPBP_chr12_102115183_102202520	102186106	TTGGTCAT others(12): Show TTGGTCATAGTGGTCTCTAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	344	0.0029	-19	c.126 others(38): Show c.1263+3482_1263+3500delGTCATAGTGGTCTCTAATG	PARPBP	ENSG00000185480.12	transcript	ENST00000327680.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
PARVG_chr22_44175925_44213469	44207289	TGGGGAGG others(12): Show TGGGGAGGGGTGAGGCTGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0343 a0001c0001t0035g0343	1	422	0.0024	-19	c.89 others(28): Show c.894_*912delAGGCTGGCGGGGAGGGGTG	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	14/14	894	INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44207400	TGGGGACG others(12): Show TGGGGACGGGTGAGGCTGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(55): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01516.hp2 HG01943.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02602.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp2 NA18941.hp1 NA18947.hp2 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18973.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19058.hp1 NA19064.hp2 NA19068.hp2 NA19079.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0003t0004 a0001c0003t0006 others(6): Show a0001c0001t0004 a0001c0003t0004 a0001c0003t0006 a0001c0003t0023 a0001c0003t0025 a0001c0003t0036 a0001c0004t0004 a0001c0004t0006 a0001c0004t0028	a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0235 others(46): Show a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0235 a0001c0001t0004g0245 a0001c0001t0004g0332 a0001c0003t0004g0005 a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0145 a0001c0003t0004g0146 a0001c0003t0004g0147 a0001c0003t0004g0148 a0001c0003t0004g0149 a0001c0003t0004g0173 a0001c0003t0004g0190 a0001c0003t0004g0201 a0001c0003t0004g0220 a0001c0003t0004g0221 a0001c0003t0004g0222 a0001c0003t0004g0223 a0001c0003t0004g0260 a0001c0003t0004g0294 a0001c0003t0004g0303 a0001c0003t0004g0312 a0001c0003t0004g0355 a0001c0003t0006g0122 a0001c0003t0023g0102 a0001c0003t0025g0219 a0001c0003t0036g0189 a0001c0004t0004g0004 a0001c0004t0004g0036 a0001c0004t0004g0197 a0001c0004t0004g0212 a0001c0004t0004g0213 a0001c0004t0004g0228 a0001c0004t0004g0259 a0001c0004t0004g0270 a0001c0004t0004g0302 a0001c0004t0004g0310 a0001c0004t0004g0342 a0001c0004t0006g0004 a0001c0004t0006g0019 a0001c0004t0006g0117 a0001c0004t0006g0121 a0001c0004t0006g0125 a0001c0004t0006g0128 a0001c0004t0006g0129 a0001c0004t0006g0130 a0001c0004t0028g0127	58	422	0.1374	-19	c.98 others(28): Show c.980_*998delCGGGTGAGGCTGGCGGGGA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	14/14	980	INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44207406	CGGGTGAG others(12): Show CGGGTGAGGCTGGCGGGGAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0253 a0001c0002t0032g0253	1	422	0.0024	-19	c.99 others(29): Show c.993_*1011delCGGGGAGGGGTGAGGCTGG	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	14/14	993	INFO_REALIGN_3_PRIME	chr22	TogoVar

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