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
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(36): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	334	0.0030	43	c.313 others(60): Show c.313-2864_313-2863insATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDXK_chr21_43714129_43767299	43741315	G G	GGGGGGCT others(36): Show GGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0221 a0001c0001t0104g0221	1	358	0.0028	43	c.143 others(58): Show c.143-347_143-346insCTGGCGGGGGGCTGGCGGGGGGCTCGCGGG GGCTCGCAGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741338	G G	GGGGGGCT others(36): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	358	0.0028	43	c.143 others(58): Show c.143-324_143-323insCTCGCGGGGGGCTCGCGGGGGGCTGGCGGG GGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(36): Show GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0157 a0001c0002t0003g0157	1	358	0.0028	43	c.143 others(58): Show c.143-267_143-266insCTCGCGGGGGGCTGGCGGGGGGCTCGCGGG GGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741419	G G	GGGGGGCT others(36): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0199 a0001c0002t0003g0199	1	358	0.0028	43	c.143 others(58): Show c.143-243_143-242insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATGCAT others(36): Show ATATGCATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0061 a0006c0016t0001g0061	1	216	0.0046	43	c.-36 others(64): Show c.-361+49917_-361+49918insATGCATATATATATATATATATAT ATATATATATATATATATT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101017892	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0355 a0002c0010t0003g0355	1	432	0.0023	43	c.152 others(60): Show c.1522+206_1522+207insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PEAK3_chr19_2269631_2287175	2281421	T T	TGAGTGGG others(36): Show TGAGTGGGTTTCCTGCCCTCTCTGGGGCCCTGCTGTGTGATCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(127): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01243.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0000 a0001 a0002 others(5): Show a0000 a0001 a0002 a0003 a0004 a0005 a0010 a0011	a0000c0008 a0000c0019 a0001c0001 others(7): Show a0000c0008 a0000c0019 a0001c0001 a0002c0002 a0002c0020 a0003c0003 a0004c0004 a0005c0009 a0010c0022 a0011c0021	a0000c0008t0004 a0000c0019t0002 a0001c0001t0001 others(25): Show a0000c0008t0004 a0000c0019t0002 a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0010 a0002c0002t0012 a0002c0002t0013 a0002c0002t0021 a0002c0002t0027 a0002c0002t0029 a0002c0002t0030 a0002c0002t0033 a0002c0020t0004 a0003c0003t0009 a0003c0003t0016 a0003c0003t0034 a0004c0004t0011 a0004c0004t0017 a0004c0004t0040 a0004c0004t0042 a0005c0009t0002 a0010c0022t0021 a0011c0021t0009	a0000c0008t0004g0172 a0000c0008t0004g0173 a0000c0019t0002g0159 others(55): Show a0000c0008t0004g0172 a0000c0008t0004g0173 a0000c0019t0002g0159 a0001c0001t0001g0029 a0001c0001t0001g0141 a0001c0001t0008g0142 a0001c0001t0018g0143 a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0002g0019 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0151 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0177 a0002c0002t0002g0179 a0002c0002t0004g0004 a0002c0002t0004g0031 a0002c0002t0004g0149 a0002c0002t0004g0164 a0002c0002t0005g0020 a0002c0002t0005g0174 a0002c0002t0009g0010 a0002c0002t0009g0153 a0002c0002t0009g0154 a0002c0002t0010g0156 a0002c0002t0010g0160 a0002c0002t0012g0014 a0002c0002t0013g0162 a0002c0002t0021g0163 a0002c0002t0027g0176 a0002c0002t0029g0161 a0002c0002t0030g0175 a0002c0002t0033g0150 a0002c0020t0004g0178 a0003c0003t0009g0144 a0003c0003t0016g0039 a0003c0003t0016g0095 a0003c0003t0016g0097 a0003c0003t0034g0096 a0004c0004t0011g0148 a0004c0004t0017g0030 a0004c0004t0017g0147 a0004c0004t0040g0145 a0004c0004t0042g0146 a0005c0009t0002g0045 a0010c0022t0021g0155 a0011c0021t0009g0152	130	454	0.2863	43	c.-4- others(56): Show c.-4-529_-4-487dupGGGATCACACAGCAGGGCCCCAGAGAGGGCAG GAAACCCACTC	PEAK3	ENSG00000188305.6	transcript	ENST00000342063.5	protein_coding	1/3			chr19	TogoVar
PEAK3_chr19_2269631_2287175	2281548	C C	CCCGAGTG others(36): Show CCCGAGTGGGTTTCCTACTCTCTCTGGGCCCCTGCTGTGTGATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(117): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01243.hp1 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA20905.hp2	a0000 a0002 a0003 others(4): Show a0000 a0002 a0003 a0004 a0005 a0010 a0011	a0000c0008 a0000c0019 a0002c0002 others(6): Show a0000c0008 a0000c0019 a0002c0002 a0002c0020 a0003c0003 a0004c0004 a0005c0009 a0010c0022 a0011c0021	a0000c0008t0004 a0000c0019t0002 a0002c0002t0002 others(21): Show a0000c0008t0004 a0000c0019t0002 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0010 a0002c0002t0012 a0002c0002t0013 a0002c0002t0021 a0002c0002t0026 a0002c0002t0027 a0002c0002t0029 a0002c0002t0030 a0002c0002t0033 a0002c0020t0004 a0003c0003t0009 a0004c0004t0011 a0004c0004t0017 a0004c0004t0040 a0004c0004t0042 a0005c0009t0002 a0010c0022t0021 a0011c0021t0009	a0000c0008t0004g0172 a0000c0008t0004g0173 a0000c0019t0002g0159 others(48): Show a0000c0008t0004g0172 a0000c0008t0004g0173 a0000c0019t0002g0159 a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0002g0019 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0151 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0177 a0002c0002t0002g0179 a0002c0002t0004g0004 a0002c0002t0004g0031 a0002c0002t0004g0149 a0002c0002t0004g0164 a0002c0002t0005g0020 a0002c0002t0005g0174 a0002c0002t0009g0010 a0002c0002t0009g0153 a0002c0002t0009g0154 a0002c0002t0010g0156 a0002c0002t0010g0160 a0002c0002t0012g0014 a0002c0002t0013g0162 a0002c0002t0021g0163 a0002c0002t0026g0052 a0002c0002t0027g0176 a0002c0002t0029g0161 a0002c0002t0030g0175 a0002c0002t0033g0150 a0002c0020t0004g0178 a0003c0003t0009g0144 a0004c0004t0011g0148 a0004c0004t0017g0030 a0004c0004t0017g0147 a0004c0004t0040g0145 a0004c0004t0042g0146 a0005c0009t0002g0045 a0010c0022t0021g0155 a0011c0021t0009g0152	120	454	0.2643	43	c.-5+ others(56): Show c.-5+538_-5+539insAATCACACAGCAGGGGCCCAGAGAGAGTAGGA AACCCACTCGG	PEAK3	ENSG00000188305.6	transcript	ENST00000342063.5	protein_coding	1/3			chr19	TogoVar
PER2_chr2_238239044_238293610	238285749	C C	CTCACTAG others(36): Show CTCACTAGCTTGGCTTCTTGCAGCCTAGTGAATTCTGCCTGTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp1 HG01069.hp2 others(31): Show HG00438.hp1 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01123.hp1 HG01192.hp1 HG01433.hp1 HG01952.hp2 HG02896.hp1 HG02897.hp1 HG03490.hp2 NA18612.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18954.hp2 NA18959.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19070.hp2 NA19076.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA21309.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0005 a0006c0011 a0008c0013 a0001c0005 a0006c0011 a0008c0013	a0001c0005t0003 a0001c0005t0012 a0001c0005t0013 others(4): Show a0001c0005t0003 a0001c0005t0012 a0001c0005t0013 a0001c0005t0025 a0006c0011t0003 a0008c0013t0003 a0008c0013t0032	a0001c0005t0003g0278 a0001c0005t0003g0280 a0001c0005t0003g0281 others(29): Show a0001c0005t0003g0278 a0001c0005t0003g0280 a0001c0005t0003g0281 a0001c0005t0003g0282 a0001c0005t0003g0283 a0001c0005t0003g0285 a0001c0005t0003g0288 a0001c0005t0003g0289 a0001c0005t0003g0291 a0001c0005t0003g0293 a0001c0005t0003g0294 a0001c0005t0003g0295 a0001c0005t0003g0297 a0001c0005t0003g0298 a0001c0005t0003g0299 a0001c0005t0003g0300 a0001c0005t0003g0301 a0001c0005t0003g0302 a0001c0005t0003g0306 a0001c0005t0012g0028 a0001c0005t0012g0279 a0001c0005t0012g0284 a0001c0005t0012g0296 a0001c0005t0013g0286 a0001c0005t0013g0287 a0001c0005t0013g0303 a0001c0005t0013g0305 a0001c0005t0025g0307 a0006c0011t0003g0029 a0006c0011t0003g0304 a0008c0013t0003g0290 a0008c0013t0032g0292	34	370	0.0919	43	c.-20 others(60): Show c.-20+2557_-20+2599dupAAACAGGCAGAATTCACTAGGCTGCAAG AAGCCAAGCTAGTGA	PER2	ENSG00000132326.13	transcript	ENST00000254657.8	protein_coding	1/22			chr2	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00642.hp1 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0003 a0001c0001t0037g0047 a0001c0001t0001g0003 a0001c0001t0037g0047	2	430	0.0047	43	c.57 others(54): Show c.5727_*5728insATATATATATATATATATATATATATATATATAT ATATATATA	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PEX5_chr12_7184686_7216459	7196953	A A	ATGTCATA others(36): Show ATGTCATATATAATGTAATAATTATATATGTCATATGTAATAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03831.hp2 NA19043.hp2 others(1): Show HG02486.hp1 HG03831.hp2 NA19043.hp2 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0005 a0003c0003t0004 a0002c0002t0005 a0003c0003t0004	a0002c0002t0005g0314 a0003c0003t0004g0044 a0003c0003t0004g0299 a0002c0002t0005g0314 a0003c0003t0004g0044 a0003c0003t0004g0299	4	428	0.0094	43	c.449 others(60): Show c.449-2057_449-2056insGTCATATATAATGTAATAATTATATATG TCATATGTAATAATT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197213	A A	AATGTAAT others(36): Show AATGTAATTATATATGTCATATATAATGTAATTATATATGTCAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp1 HG02809.hp1 others(5): Show HG02451.hp2 HG02723.hp1 HG02809.hp1 HG02922.hp2 HG03195.hp1 HG03209.hp1 HG03516.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0305 a0001c0001t0004g0003 a0001c0001t0004g0305	8	428	0.0187	43	c.449 others(60): Show c.449-1777_449-1776insATAATGTAATTATATATGTCATATGTAA TTATATATGTCATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132724066	A A	AAGTTTCT others(36): Show AAGTTTCTTGAATATGAAACTTTAAATAATTTTTAGTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0175 a0001c0002t0045g0175	1	394	0.0025	43	c.32 others(54): Show c.3238_*3239insAGTTTCTTGAATATGAAACTTTAAATAATTTTTA GTTTCTTTT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		1333		chr12	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0208 a0003c0006t0001g0208	1	286	0.0035	43	c.-15 others(60): Show c.-15+6462_-15+6463insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PHLPP1_chr18_62710541_62985433	62766076	A A	AAAAATAT others(36): Show AAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	192	0.0052	43	c.157 others(64): Show c.1576+48818_1576+48819insAAATATATATATATATATATATAT ATATATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849832	A A	AAAAAAAA others(36): Show AAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	192	0.0052	43	c.190 others(64): Show c.1900-10602_1900-10601insAAAAAAATATATATATATATATAT ATATATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHRF1_chr11_571470_617222	590029	T T	TGGAGCGT others(36): Show TGGAGCGTGCGGGGCTCAGCCTGAGAATGTCTGCAAACGGGCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp1 others(36): Show HG00099.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp1 HG04204.hp1 NA18967.hp2 NA19000.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0003 a0001c0025 a0004c0005 others(1): Show a0001c0003 a0001c0025 a0004c0005 a0015c0024	a0001c0003t0002 a0001c0003t0005 a0001c0003t0012 others(4): Show a0001c0003t0002 a0001c0003t0005 a0001c0003t0012 a0001c0003t0013 a0001c0025t0002 a0004c0005t0002 a0015c0024t0002	a0001c0003t0002g0017 a0001c0003t0002g0020 a0001c0003t0002g0022 others(35): Show a0001c0003t0002g0017 a0001c0003t0002g0020 a0001c0003t0002g0022 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0037 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0043 a0001c0003t0002g0045 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0005g0014 a0001c0003t0005g0026 a0001c0003t0005g0035 a0001c0003t0005g0044 a0001c0003t0005g0050 a0001c0003t0012g0049 a0001c0003t0013g0051 a0001c0025t0002g0092 a0004c0005t0002g0003 a0004c0005t0002g0018 a0004c0005t0002g0023 a0004c0005t0002g0031 a0004c0005t0002g0032 a0004c0005t0002g0033 a0004c0005t0002g0034 a0004c0005t0002g0041 a0004c0005t0002g0042 a0015c0024t0002g0024	39	279	0.1398	43	c.421 others(60): Show c.421-1313_421-1312insCGGAGCGTGCGGGGCTCAGCCTGAGAAT GTCTGCAAACGGGCA	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIBF1_chr13_72777133_73021461	72844744	C C	CACACACA others(36): Show CACACACACACACACACACACACACGGATGAAGTCTTACTGTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0082 a0002c0002t0003g0082	1	346	0.0029	43	c.122 others(62): Show c.1224-9289_1224-9288insGGATGAAGTCTTACTGTTTACACACA CACACACACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PID1_chr2_229018973_229276287	229139039	G G	GAAAGAAG others(36): Show GAAAGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0033 a0001c0001t0017g0033	1	256	0.0039	43	c.177 others(62): Show c.177+16778_177+16779insTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCTTCTTT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PIGY_chr4_88515998_88528776	88523585	C C	CGGTCGGC others(36): Show CGGTCGGCCAAAGGCCGCGACCCCGACGCGTGCAGGCACCTACG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	446	0.0022	43	c.-37 others(52): Show c.-371_-329dupCGTAGGTGCCTGCACGCGTCGGGGTCGCGGCCTTTG GCCGACC	PIGY	ENSG00000255072.2	transcript	ENST00000527353.2	protein_coding	1/2	1797		chr4	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	43	c.18 others(52): Show c.185_*186insATATATATATATATATATATATATATATATATTTTT TTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIP5K1C_chr19_3625183_3705468	3687211	A A	AATTAGCC others(36): Show AATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0301 a0001c0002t0018g0301	1	332	0.0030	43	c.94+ others(60): Show c.94+13043_94+13085dupGAGTAGCTGGGACTACAGGCATGTGCCA CCATGCCTGGCTAAT	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	1/17			chr19	TogoVar
PIR_chrX_15379799_15498333	15433783	G G	GAGGAGGA others(36): Show GAGGAGGAGGAAGGAGAAAGAAGGAGGAGGAGGAAGGAGAAAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp2 HG02572.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0149 a0001c0001t0001g0072 a0001c0001t0001g0149	2	272	0.0074	43	c.481 others(60): Show c.481-7836_481-7794dupTCTTTCTCCTTCCTCCTCCTCCTTCTTT CTCCTTCCTCCTCCT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	5/9			chrX	TogoVar
PITPNC1_chr17_67372281_67702256	67494214	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0159 a0001c0001t0009g0159	1	218	0.0046	43	c.49- others(60): Show c.49-38586_49-38585insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0045 a0001c0001t0068g0045	1	218	0.0046	43	c.683 others(60): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561199	C C	CCTCCTCT others(36): Show CCTCCTCTCCCTTCCTCTTCCCCTTCCTCCTTCCCCTCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(77): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02280.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18980.hp1 NA18990.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19088.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0022 a0002c0004 a0002c0005 a0002c0009 a0003c0008 a0003c0025 a0004c0013 a0005c0019 a0005c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0050 a0001c0001t0059 a0001c0001t0060 a0001c0001t0066 a0001c0001t0085 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0062 a0001c0002t0070 a0001c0002t0073 a0001c0003t0030 a0001c0003t0032 a0001c0003t0033 a0001c0003t0077 a0001c0003t0098 a0001c0006t0002 a0001c0006t0009 a0001c0006t0012 a0001c0006t0016 a0001c0006t0054 a0001c0006t0064 a0001c0006t0065 a0001c0007t0006 a0001c0007t0027 a0001c0007t0031 a0001c0007t0035 a0001c0010t0072 a0001c0012t0019 a0001c0012t0068 a0001c0022t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0025 a0002c0004t0038 a0002c0004t0043 a0002c0004t0044 a0002c0005t0008 a0002c0005t0018 a0002c0005t0063 a0002c0005t0088 a0002c0005t0089 a0002c0005t0099 a0002c0009t0006 a0003c0008t0001 a0003c0008t0002 a0003c0025t0020 a0004c0013t0026 a0005c0019t0003 a0005c0020t0016	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 others(77): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0002g0071 a0001c0001t0005g0092 a0001c0001t0006g0035 a0001c0001t0013g0027 a0001c0001t0021g0091 a0001c0001t0028g0078 a0001c0001t0029g0054 a0001c0001t0050g0065 a0001c0001t0059g0062 a0001c0001t0060g0037 a0001c0001t0066g0045 a0001c0001t0085g0076 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0104 a0001c0002t0002g0088 a0001c0002t0003g0047 a0001c0002t0003g0050 a0001c0002t0003g0061 a0001c0002t0003g0068 a0001c0002t0062g0036 a0001c0002t0070g0018 a0001c0002t0073g0085 a0001c0003t0030g0069 a0001c0003t0030g0070 a0001c0003t0032g0010 a0001c0003t0033g0030 a0001c0003t0077g0090 a0001c0003t0098g0009 a0001c0006t0002g0011 a0001c0006t0009g0053 a0001c0006t0009g0083 a0001c0006t0012g0105 a0001c0006t0012g0107 a0001c0006t0016g0046 a0001c0006t0054g0014 a0001c0006t0064g0015 a0001c0006t0065g0012 a0001c0007t0006g0022 a0001c0007t0027g0026 a0001c0007t0027g0034 a0001c0007t0031g0023 a0001c0007t0035g0072 a0001c0010t0072g0017 a0001c0012t0019g0031 a0001c0012t0068g0093 a0001c0022t0003g0019 a0002c0004t0008g0080 a0002c0004t0014g0056 a0002c0004t0025g0052 a0002c0004t0025g0077 a0002c0004t0038g0033 a0002c0004t0043g0079 a0002c0004t0044g0081 a0002c0005t0008g0098 a0002c0005t0018g0007 a0002c0005t0018g0055 a0002c0005t0063g0095 a0002c0005t0088g0073 a0002c0005t0089g0074 a0002c0005t0099g0086 a0002c0009t0006g0063 a0003c0008t0001g0101 a0003c0008t0001g0102 a0003c0008t0002g0064 a0003c0008t0002g0089 a0003c0025t0020g0100 a0004c0013t0026g0075 a0005c0019t0003g0058 a0005c0020t0016g0087	80	218	0.3670	43	c.-47 others(54): Show c.-4794_-4793insAAGGAAGAGGGGAAGGAGGAAGGGGAAGAGGAAG GGAGAGGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4645		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561199	C C	CCTCCTCT others(36): Show CCTCCTCTCCCTTCCTCTTCCCCTTCCTCCTTCTCCTCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG00673.hp1 others(29): Show HG00621.hp1 HG00639.hp1 HG00673.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01993.hp1 HG02004.hp1 HG02145.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp1 NA19088.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0024 a0002c0004 a0002c0009 a0004c0026	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0045 a0001c0001t0061 a0001c0001t0082 a0001c0002t0011 a0001c0002t0020 a0001c0002t0029 a0001c0002t0031 a0001c0002t0052 a0001c0003t0017 a0001c0003t0040 a0001c0010t0003 a0001c0024t0087 a0002c0004t0008 a0002c0004t0011 a0002c0004t0039 a0002c0004t0047 a0002c0009t0090 a0004c0026t0049	a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 others(29): Show a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0006g0128 a0001c0001t0007g0109 a0001c0001t0010g0123 a0001c0001t0010g0124 a0001c0001t0010g0133 a0001c0001t0015g0029 a0001c0001t0015g0112 a0001c0001t0045g0138 a0001c0001t0061g0145 a0001c0001t0082g0121 a0001c0002t0011g0146 a0001c0002t0020g0212 a0001c0002t0029g0130 a0001c0002t0031g0132 a0001c0002t0052g0003 a0001c0003t0017g0067 a0001c0003t0040g0125 a0001c0010t0003g0139 a0001c0010t0003g0140 a0001c0024t0087g0127 a0002c0004t0008g0111 a0002c0004t0008g0135 a0002c0004t0011g0110 a0002c0004t0039g0217 a0002c0004t0047g0129 a0002c0009t0090g0002 a0004c0026t0049g0004	32	218	0.1468	43	c.-47 others(54): Show c.-4794_-4793insAAGGAAGAGGAGAAGGAGGAAGGGGAAGAGGAAG GGAGAGGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4645		chr17	TogoVar
PIWIL2_chr8_22270316_22362568	22290974	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0015 a0001c0001t0005g0007 a0001c0001t0005g0015	2	296	0.0068	43	c.118 others(60): Show c.1181+629_1181+630insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTT	PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
PJA2_chr5_109329722_109414974	109372905	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	346	0.0029	43	c.128 others(62): Show c.1284-4160_1284-4159insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9			chr5	TogoVar
PKP3_chr11_389209_409908	396330	C C	CGACCAGG others(36): Show CGACCAGGAGGTCAGTGGGTGAGCGTATCTGCCCTCTCGGGTAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0005 a0005	a0005c0037 a0005c0037	a0005c0037t0005 a0005c0037t0005	a0005c0037t0005g0087 a0005c0037t0005g0087	1	216	0.0046	43	c.233 others(58): Show c.233-277_233-235dupGACCAGGAGGTCAGTGGGTGAGCGTATCTG CCCTCTCGGGTAG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCH1_chr3_155474881_155750071	155734078	T T	TGCAAGTG others(36): Show TGCAAGTGAAGATCTTGGCATTCAAGGAAATTCAAGTGACAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	264	0.0038	43	c.-41 others(62): Show c.-41+10761_-41+10762insTTTTGTCACTTGAATTTCCTTGAATG CCAAGATCTTCACTTGC	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	1/22			chr3	TogoVar
PLEKHA1_chr10_122369708_122437345	122374262	A A	AAATTGGC others(36): Show AAATTGGCGCGCAGAGCTGTAAAGCGTTTTTCTCCAGGTCACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	358	0.0028	43	c.-56 others(52): Show c.-565_-564insAATTGGCGCGCAGAGCTGTAAAGCGTTTTTCTCCAG GTCACAC	PLEKHA1	ENSG00000107679.15	transcript	ENST00000368990.8	protein_coding		445		chr10	TogoVar
PLEKHA5_chr12_19124733_19381400	19253064	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	316	0.0032	43	c.228 others(58): Show c.228-850_228-849insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG7_chr12_92697989_92777455	92727967	T T	TATACACA others(36): Show TATACACATATATACACACACCACATTCCATGGTGTATATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp1 HG03209.hp1 HG03516.hp1	a0003 a0003	a0003c0004 a0003c0013 a0003c0004 a0003c0013	a0003c0004t0007 a0003c0013t0024 a0003c0004t0007 a0003c0013t0024	a0003c0004t0007g0135 a0003c0013t0024g0142 a0003c0004t0007g0135 a0003c0013t0024g0142	2	252	0.0079	43	c.531 others(60): Show c.531-1023_531-1022insCACATATATACACACACCACATTCCATG GTGTATATATAAATA	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG7_chr12_92697989_92777455	92728224	A A	ATGGTGGT others(36): Show ATGGTGGTGTATATATAAATATATATACACACCACATTCCATGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02155.hp1 NA18995.hp1 others(1): Show HG00323.hp1 HG02155.hp1 NA18995.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0123	4	252	0.0159	43	c.531 others(58): Show c.531-764_531-763insGTGTATATATAAATATATATACACACCACA TTCCATGGTGGTG	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0147 a0001c0004t0003g0147	1	200	0.0050	43	c.195 others(62): Show c.1951-4540_1951-4539insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLGRKT_chr9_5352971_5442925	5434116	G G	GAAGTGAG others(36): Show GAAGTGAGGAGGCTGCCTCTGCCCGGCCGCACCCCTGTCTGGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	414	0.0024	43	c.-6- others(58): Show c.-6-2134_-6-2133insTCCCAGACAGGGGTGCGGCCGGGCAGAGGC AGCCTCCTCACTT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	2/5			chr9	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(36): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0198 a0001c0003t0001g0198	1	384	0.0026	43	c.212 others(62): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAGAAGAAAGAAAG AAAGAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(36): Show GAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0321 a0001c0003t0001g0321	1	384	0.0026	43	c.212 others(62): Show c.2126-3742_2126-3741insGAGAGAGAGAGAGAGAGAGAAGAAAG AAAGAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	43	c.-24 others(54): Show c.-2481_-2480insAAAAAAAAAAAATATATATATATATATATATATA TATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAT others(36): Show AAAAAAATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	384	0.0026	43	c.-24 others(54): Show c.-2481_-2480insAAAAAATATATATATATATATATATATATATATA TATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLPP3_chr1_56489761_56584563	56518715	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	336	0.0030	43	c.633 others(60): Show c.633+5107_633+5108insTATATATATATATATATATATATATATA TATATATATATATAT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	4/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56551279	G G	GTTTGGTT others(36): Show GTTTGGTTTGGTTTGGTTTGGTTTGGTTTGCTTTGGTTTGCTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03471.hp2 NA18522.hp2 HG02965.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0144 a0001c0001t0003g0137 a0001c0001t0003g0317 a0001c0001t0002g0144 a0001c0001t0003g0137 a0001c0001t0003g0317	3	336	0.0089	43	c.140 others(62): Show c.140-14168_140-14167insAAAGCAAACCAAAGCAAACCAAACCA AACCAAACCAAACCAAA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557000	A A	AAGAAAGA others(36): Show AAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00544.hp1 others(18): Show HG00140.hp1 HG00408.hp2 HG00544.hp1 HG01167.hp1 HG01257.hp1 HG01258.hp2 HG01978.hp1 HG02273.hp1 HG02280.hp2 HG02965.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03927.hp2 HG03942.hp2 NA18950.hp1 NA18951.hp2 NA18963.hp2 NA18967.hp2 NA18979.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0004	a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 others(18): Show a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0238 a0001c0001t0001g0296 a0001c0001t0001g0312 a0001c0001t0002g0185 a0001c0001t0002g0323 a0001c0001t0003g0022 a0001c0001t0003g0087 a0001c0001t0003g0137 a0001c0001t0003g0333 a0001c0001t0004g0034 a0001c0001t0004g0049 a0001c0001t0004g0064 a0001c0002t0001g0304 a0001c0002t0002g0293 a0001c0003t0004g0011 a0001c0003t0004g0030	21	336	0.0625	43	c.140 others(62): Show c.140-19889_140-19888insCTTTCTTTCTTTTCTTTCTTTCTTTC CTTCTTTCTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG04199.hp2 NA18993.hp2 others(1): Show HG02129.hp1 HG04199.hp2 NA18993.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0296 a0001c0001t0003g0287 a0001c0001t0003g0387 others(1): Show a0001c0001t0001g0296 a0001c0001t0003g0287 a0001c0001t0003g0387 a0001c0001t0003g0394	4	436	0.0092	43	c.-49 others(54): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382280	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0143 a0007c0009t0002g0143	1	436	0.0023	43	c.-49 others(54): Show c.-4993_-4992insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4939		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39129729	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0291 a0001c0001t0011g0291	1	320	0.0031	43	c.255 others(60): Show c.255+9924_255+9925insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXNB2_chr22_50269979_50312646	50285333	A A	ACCCCCTC others(36): Show ACCCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCAACCGGCAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18957.hp1 NA18990.hp1 others(1): Show HG00408.hp2 NA18957.hp1 NA18990.hp1 NA19012.hp1	a0002 a0004 a0002 a0004	a0002c0009 a0002c0028 a0004c0004 a0002c0009 a0002c0028 a0004c0004	a0002c0009t0002 a0002c0028t0001 a0004c0004t0002 a0002c0009t0002 a0002c0028t0001 a0004c0004t0002	a0002c0009t0002g0240 a0002c0028t0001g0224 a0004c0004t0002g0218 others(1): Show a0002c0009t0002g0240 a0002c0028t0001g0224 a0004c0004t0002g0218 a0004c0004t0002g0241	4	302	0.0133	43	c.208 others(60): Show c.2088+466_2088+467insGTGCCGGTTGGTGACAGGCAGGCTCAGG TGCGGAGGGAGGGGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50285743	A A	ACCCCTCC others(36): Show ACCCCTCCCTCCGTACCTGAGCCTGCCTGTCACCGGCCGGCACC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0009 a0009	a0009c0069 a0009c0069	a0009c0069t0001 a0009c0069t0001	a0009c0069t0001g0235 a0009c0069t0001g0235	1	302	0.0033	43	c.208 others(58): Show c.2088+56_2088+57insGGTGCCGGCCGGTGACAGGCAGGCTCAGGT ACGGAGGGAGGGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar

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