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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PAXIP1_chr7_154938690_155008124	154977889	T T	TAACTTTT others(26): Show TAACTTTTTAATGTACATTTTCGAACACAGACCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01884.hp2 others(13): Show HG01192.hp1 HG01257.hp2 HG01884.hp2 HG01981.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02886.hp2 HG02970.hp2 HG03209.hp1 HG03225.hp1 HG03579.hp1 HG03710.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0014 a0001c0002 a0001c0004 a0001c0014	a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 others(2): Show a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0001c0004t0005 a0001c0014t0001	a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 others(13): Show a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0221 a0001c0002t0006g0083 a0001c0002t0006g0084 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0005g0066 a0001c0004t0005g0067 a0001c0004t0005g0068 a0001c0004t0005g0189 a0001c0014t0001g0077	16	362	0.0442	33	c.439 others(50): Show c.439-1591_439-1559dupTGGTCTGTGTTCGAAAATGTACATTAAA AAGTT		PAXIP1	ENSG00000157212.20	transcript	ENST00000404141.6	protein_coding	5/20						chr7	TogoVar
PBRM1_chr3_52540367_52690913	52578398	G G	GAACAGAT others(26): Show GAACAGATATAAACTGAAGCCTAGAGGGCTAAAT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0160 a0004c0010t0001g0160	1	300	0.0033	33	c.357 others(50): Show c.3578+623_3578+655dupATTTAGCCCTCTAGGCTTCAGTTTATAT CTGTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	23/31						chr3	TogoVar
PBRM1_chr3_52540367_52690913	52612258	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG01884.hp2 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0296 a0001c0003t0001g0297	2	300	0.0067	33	c.197 others(52): Show c.1970-2304_1970-2303insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	17/31						chr3	TogoVar
PCBP1_chr2_70082477_70094203	70090302	A A	ATGGGAGA others(26): Show ATGGGAGATCACTCATGGCAAAGAGAAGTTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	404	0.0025	33	c.14 others(44): Show c.1488_*1489insTGGGAGATCACTCATGGCAAAGAGAAGTTCCTG		PCBP1	ENSG00000169564.7	transcript	ENST00000303577.7	protein_coding					1100		chr2	TogoVar
PCBP3_chr21_45638725_45947450	45892470	T T	TGGGGGGC others(26): Show TGGGGGGCGCGGTCCCGTCTCTGACGGGGCGTGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02559.hp1 HG02055.hp2 HG02257.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0002g0242 a0001c0001t0003g0263 a0001c0001t0019g0224 a0001c0001t0002g0242 a0001c0001t0003g0263 a0001c0001t0019g0224	3	292	0.0103	33	c.11- others(48): Show c.11-3732_11-3731insCGCGGTCCCGTCTCTGACGGGGCGTGGGGG GGG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11X_chrX_91774375_92628230	92331279	T T	TTTCTTCT others(26): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02615.hp1 HG02809.hp2 others(4): Show HG02135.hp1 HG02615.hp1 HG02809.hp2 HG03225.hp1 NA18967.hp1 NA19066.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0002t0006	a0001c0001t0001g0066 a0001c0001t0002g0001 a0001c0001t0002g0028 others(4): Show a0001c0001t0001g0066 a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0011g0147 a0001c0001t0013g0097 a0001c0002t0006g0007	7	154	0.0455	33	c.314 others(54): Show c.3145-56449_3145-56417dupTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTC		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92331279	T T	TTTCTTCT others(26): Show TTTCTTCTTCTTCTTTTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	154	0.0065	33	c.314 others(54): Show c.3145-56442_3145-56441insTTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTT		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	281	0.0036	33	c.284 others(54): Show c.2848+19037_2848+19038insAAAAAAATATATATATATATATAT ATATATATA		PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5						chrX	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0029	1	281	0.0036	33	c.284 others(54): Show c.2848+19037_2848+19038insAAAAAAAAAAATATATATATATAT ATATATATA		PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5						chrX	TogoVar
PCDH1_chr5_141848090_141883410	141850530	G G	GGGGGGGG others(26): Show GGGGGGGGTGGGGGTGGGGGTGGGGGGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0185 a0002c0003t0001g0185	1	384	0.0026	33	c.35 others(44): Show c.3511_*3512insACCCCCCCCCCCCACCCCCACCCCCACCCCCCC		PCDH1	ENSG00000156453.14	transcript	ENST00000287008.8	protein_coding					2559		chr5	TogoVar
PCDH7_chr4_30715369_31151800	30716893	A A	AAGCAGCA others(26): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	214	0.0047	33	c.-45 others(44): Show c.-4530_-4529insAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding					3475		chr4	TogoVar
PCDH7_chr4_30715369_31151800	31150365	A A	ATTTTTCT others(26): Show ATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02280.hp2 HG02976.hp1 others(2): Show HG00558.hp1 HG02280.hp2 HG02976.hp1 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0043 a0001c0001t0001 a0001c0001t0019 a0001c0001t0043	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0191 a0001c0001t0019g0177 a0001c0001t0043g0009	5	214	0.0234	33	c.75 others(44): Show c.7516_*7517insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding					3566		chr4	TogoVar
PCDH9_chr13_66297834_67235336	67059384	A A	ATAGTATA others(26): Show ATAGTATATAGTATATATAGTGTATATATATGGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	80	0.0125	33	c.303 others(56): Show c.3037-155780_3037-155779insACCATATATATACACTATATAT ACTATATACTA		PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	2/4						chr13	TogoVar
PCGF3_chr4_700832_775089	722506	T T	TCCGCGCC others(26): Show TCCGCGCCGGGTCCACACTCGCGTCATCGCCCGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0006 a0001c0001t0061g0006	1	366	0.0027	33	c.-18 others(52): Show c.-189-8105_-189-8104insGCGTCATCGCCCGCCCGCGCCGGGTC CACACTC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF5_chr10_91215663_91289337	91238604	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0201 a0001c0001t0006g0201	1	318	0.0031	33	c.113 others(50): Show c.113-1880_113-1879insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC		PCGF5	ENSG00000180628.15	transcript	ENST00000336126.6	protein_coding	2/9						chr10	TogoVar
PCGF6_chr10_103297796_103356140	103302452	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	372	0.0027	33	c.14 others(44): Show c.1452_*1453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		PCGF6	ENSG00000156374.16	transcript	ENST00000369847.4	protein_coding					343		chr10	TogoVar
PCLAF_chr15_64359304_64386441	64377488	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	298	0.0034	33	c.128 others(48): Show c.128-584_128-583insATATATATATTTTTTTTTTTTTTTTTTTTT TTT		PCLAF	ENSG00000166803.14	transcript	ENST00000300035.9	protein_coding	2/3						chr15	TogoVar
PCLO_chr7_82749012_83167884	83038059	A A	ATATATAT others(26): Show ATATATATAATATATATTTTTATATATATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0132 a0001c0019t0003g0132	1	188	0.0053	33	c.330 others(54): Show c.3301-71573_3301-71572insAATATATATATATAAAAATATATA TTATATATA		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	83067939	G G	GTGTATTC others(26): Show GTGTATTCCCCTTCTATGTTTTAATGAGATTACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00544.hp2 others(138): Show HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18963.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(52): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0016 a0017 a0018 a0019 a0020 a0023 a0024 a0025 a0026 a0027 a0031 a0032 a0034 a0035 a0036 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0049 a0050 a0051 a0052 a0053 a0054 a0056 a0058 a0059 a0061 a0062 a0063 a0066 a0067 a0068 a0069 a0070 a0072 a0074	a0001c0001 a0001c0003 a0001c0010 others(80): Show a0001c0001 a0001c0003 a0001c0010 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0053 a0001c0059 a0001c0066 a0001c0067 a0002c0004 a0002c0007 a0002c0062 a0002c0063 a0002c0064 a0003c0022 a0003c0090 a0003c0091 a0003c0097 a0004c0002 a0005c0005 a0006c0028 a0006c0042 a0006c0044 a0008c0024 a0008c0026 a0008c0102 a0009c0006 a0009c0031 a0010c0011 a0010c0093 a0011c0027 a0011c0040 a0012c0009 a0013c0084 a0016c0015 a0017c0041 a0017c0110 a0018c0033 a0018c0034 a0019c0079 a0019c0098 a0020c0072 a0020c0111 a0023c0021 a0024c0025 a0025c0012 a0026c0112 a0027c0088 a0031c0096 a0032c0050 a0034c0049 a0035c0043 a0036c0039 a0038c0046 a0039c0047 a0040c0045 a0041c0036 a0042c0037 a0043c0035 a0044c0078 a0045c0075 a0046c0077 a0049c0058 a0050c0054 a0051c0057 a0052c0056 a0053c0061 a0054c0065 a0056c0052 a0058c0068 a0059c0051 a0061c0081 a0062c0106 a0063c0107 a0066c0105 a0067c0099 a0068c0101 a0069c0104 a0070c0103 a0072c0032 a0074c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(102): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 a0001c0001t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0017 a0001c0003t0019 a0001c0003t0029 a0001c0010t0004 a0001c0010t0007 a0001c0016t0010 a0001c0016t0011 a0001c0017t0006 a0001c0017t0008 a0001c0018t0003 a0001c0018t0011 a0001c0019t0003 a0001c0019t0034 a0001c0053t0003 a0001c0059t0003 a0001c0066t0006 a0001c0067t0002 a0002c0004t0004 a0002c0004t0007 a0002c0007t0001 a0002c0062t0001 a0002c0063t0001 a0002c0064t0009 a0003c0022t0003 a0003c0090t0036 a0003c0091t0001 a0003c0097t0002 a0004c0002t0001 a0004c0002t0027 a0004c0002t0031 a0005c0005t0001 a0005c0005t0028 a0006c0028t0018 a0006c0042t0006 a0006c0044t0016 a0008c0024t0003 a0008c0026t0002 a0008c0102t0002 a0009c0006t0010 a0009c0006t0023 a0009c0031t0025 a0010c0011t0001 a0010c0093t0007 a0011c0027t0001 a0011c0040t0001 a0012c0009t0013 a0013c0084t0015 a0016c0015t0001 a0016c0015t0002 a0017c0041t0024 a0017c0110t0004 a0018c0033t0003 a0018c0034t0005 a0019c0079t0002 a0019c0098t0002 a0020c0072t0002 a0020c0111t0030 a0023c0021t0002 a0024c0025t0009 a0025c0012t0001 a0026c0112t0002 a0027c0088t0001 a0031c0096t0019 a0032c0050t0008 a0034c0049t0002 a0035c0043t0004 a0036c0039t0008 a0038c0046t0010 a0039c0047t0011 a0040c0045t0008 a0041c0036t0001 a0042c0037t0008 a0043c0035t0002 a0044c0078t0002 a0045c0075t0003 a0046c0077t0003 a0049c0058t0001 a0050c0054t0001 a0051c0057t0001 a0052c0056t0003 a0053c0061t0017 a0054c0065t0020 a0056c0052t0006 a0058c0068t0006 a0059c0051t0003 a0061c0081t0015 a0062c0106t0001 a0063c0107t0004 a0066c0105t0012 a0067c0099t0003 a0068c0101t0001 a0069c0104t0009 a0070c0103t0009 a0072c0032t0004 a0074c0030t0011	a0001c0001t0001g0133 a0001c0001t0001g0148 a0001c0001t0002g0013 others(138): Show a0001c0001t0001g0133 a0001c0001t0001g0148 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0029 a0001c0001t0002g0107 a0001c0001t0002g0140 a0001c0001t0002g0146 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0005g0109 a0001c0001t0005g0125 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0018g0144 a0001c0001t0020g0134 a0001c0003t0001g0032 a0001c0003t0002g0104 a0001c0003t0002g0110 a0001c0003t0002g0185 a0001c0003t0008g0127 a0001c0003t0017g0115 a0001c0003t0019g0021 a0001c0003t0029g0117 a0001c0010t0004g0017 a0001c0010t0007g0088 a0001c0016t0010g0143 a0001c0016t0011g0057 a0001c0017t0006g0130 a0001c0017t0008g0137 a0001c0018t0003g0018 a0001c0018t0011g0183 a0001c0019t0003g0132 a0001c0019t0034g0027 a0001c0053t0003g0131 a0001c0059t0003g0122 a0001c0066t0006g0124 a0001c0067t0002g0102 a0002c0004t0004g0145 a0002c0004t0007g0085 a0002c0004t0007g0097 a0002c0004t0007g0099 a0002c0004t0007g0108 a0002c0004t0007g0141 a0002c0007t0001g0020 a0002c0007t0001g0100 a0002c0007t0001g0135 a0002c0062t0001g0090 a0002c0063t0001g0128 a0002c0064t0009g0031 a0003c0022t0003g0167 a0003c0090t0036g0173 a0003c0091t0001g0162 a0003c0097t0002g0175 a0004c0002t0001g0016 a0004c0002t0001g0019 a0004c0002t0001g0083 a0004c0002t0001g0095 a0004c0002t0001g0096 a0004c0002t0001g0105 a0004c0002t0001g0106 a0004c0002t0027g0149 a0004c0002t0031g0014 a0005c0005t0001g0159 a0005c0005t0001g0168 a0005c0005t0001g0170 a0005c0005t0001g0172 a0005c0005t0001g0174 a0005c0005t0028g0153 a0006c0028t0018g0047 a0006c0042t0006g0035 a0006c0044t0016g0038 a0008c0024t0003g0052 a0008c0024t0003g0053 a0008c0026t0002g0066 a0008c0102t0002g0055 a0009c0006t0010g0006 a0009c0006t0010g0007 a0009c0006t0010g0008 a0009c0006t0023g0005 a0009c0031t0025g0011 a0010c0011t0001g0163 a0010c0011t0001g0164 a0010c0093t0007g0171 a0011c0027t0001g0046 a0011c0027t0001g0048 a0011c0040t0001g0043 a0012c0009t0013g0033 a0012c0009t0013g0034 a0012c0009t0013g0126 a0013c0084t0015g0001 a0016c0015t0001g0077 a0016c0015t0002g0078 a0017c0041t0024g0076 a0017c0110t0004g0049 a0018c0033t0003g0060 a0018c0034t0005g0059 a0019c0079t0002g0114 a0019c0098t0002g0082 a0020c0072t0002g0023 a0020c0111t0030g0152 a0023c0021t0002g0093 a0023c0021t0002g0094 a0024c0025t0009g0064 a0025c0012t0001g0154 a0025c0012t0001g0155 a0026c0112t0002g0147 a0027c0088t0001g0156 a0031c0096t0019g0186 a0032c0050t0008g0073 a0034c0049t0002g0061 a0035c0043t0004g0044 a0036c0039t0008g0079 a0038c0046t0010g0039 a0039c0047t0011g0036 a0040c0045t0008g0080 a0041c0036t0001g0041 a0042c0037t0008g0075 a0043c0035t0002g0058 a0044c0078t0002g0136 a0045c0075t0003g0138 a0046c0077t0003g0012 a0049c0058t0001g0086 a0050c0054t0001g0129 a0051c0057t0001g0103 a0052c0056t0003g0101 a0053c0061t0017g0116 a0054c0065t0020g0098 a0056c0052t0006g0112 a0058c0068t0006g0181 a0059c0051t0003g0123 a0061c0081t0015g0003 a0062c0106t0001g0069 a0063c0107t0004g0068 a0066c0105t0012g0067 a0067c0099t0003g0081 a0068c0101t0001g0054 a0069c0104t0009g0071 a0070c0103t0009g0065 a0072c0032t0004g0177 a0074c0030t0011g0010	141	188	0.7500	33	c.330 others(54): Show c.3300+66310_3300+66311insAGTAATCTCATTAAAACATAGAAG GGGAATACA		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	83067939	G G	GTGTATTC others(26): Show GTGTATTCCCCTTCTATGTTTTAATGAGATTATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01123.hp1 others(19): Show HG00099.hp1 HG00639.hp1 HG01123.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02622.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp2 HG03492.hp2 HG03704.hp2 HG04115.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2	a0001 a0007 a0015 others(12): Show a0001 a0007 a0015 a0021 a0022 a0024 a0029 a0030 a0033 a0037 a0048 a0055 a0057 a0060 a0073	a0001c0060 a0007c0008 a0007c0073 others(15): Show a0001c0060 a0007c0008 a0007c0073 a0015c0094 a0015c0095 a0021c0020 a0022c0069 a0022c0070 a0024c0025 a0029c0086 a0030c0087 a0033c0048 a0037c0038 a0048c0071 a0055c0080 a0057c0055 a0060c0074 a0073c0029	a0001c0060t0033 a0007c0008t0003 a0007c0073t0003 others(15): Show a0001c0060t0033 a0007c0008t0003 a0007c0073t0003 a0015c0094t0009 a0015c0095t0001 a0021c0020t0014 a0022c0069t0005 a0022c0070t0032 a0024c0025t0009 a0029c0086t0001 a0030c0087t0002 a0033c0048t0005 a0037c0038t0016 a0048c0071t0014 a0055c0080t0001 a0057c0055t0001 a0060c0074t0003 a0073c0029t0026	a0001c0060t0033g0025 a0007c0008t0003g0119 a0007c0008t0003g0120 others(19): Show a0001c0060t0033g0025 a0007c0008t0003g0119 a0007c0008t0003g0120 a0007c0008t0003g0182 a0007c0008t0003g0184 a0007c0073t0003g0118 a0015c0094t0009g0188 a0015c0095t0001g0187 a0021c0020t0014g0026 a0021c0020t0014g0030 a0022c0069t0005g0022 a0022c0070t0032g0024 a0024c0025t0009g0063 a0029c0086t0001g0157 a0030c0087t0002g0176 a0033c0048t0005g0074 a0037c0038t0016g0051 a0048c0071t0014g0028 a0055c0080t0001g0084 a0057c0055t0001g0151 a0060c0074t0003g0121 a0073c0029t0026g0009	22	188	0.1170	33	c.330 others(54): Show c.3300+66310_3300+66311insAATAATCTCATTAAAACATAGAAG GGGAATACA		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	83096804	A A	ATATATAA others(26): Show ATATATAATATAAATATATATAAAAATATATTAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02155.hp1 others(14): Show HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02486.hp2 HG02572.hp2 HG02723.hp1 HG02886.hp2 HG03098.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1 NA18953.hp1 NA18954.hp2 NA18993.hp1 NA19012.hp2 NA19085.hp2	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0008 a0013 a0016 a0046 a0058 a0074	a0001c0001 a0001c0010 a0001c0018 others(11): Show a0001c0001 a0001c0010 a0001c0018 a0001c0066 a0002c0007 a0006c0042 a0008c0024 a0008c0102 a0013c0082 a0013c0083 a0016c0015 a0046c0077 a0058c0068 a0074c0030	a0001c0001t0006 a0001c0010t0004 a0001c0010t0007 others(12): Show a0001c0001t0006 a0001c0010t0004 a0001c0010t0007 a0001c0018t0011 a0001c0066t0006 a0002c0007t0001 a0006c0042t0006 a0008c0024t0003 a0008c0102t0002 a0013c0082t0022 a0013c0083t0021 a0016c0015t0002 a0046c0077t0003 a0058c0068t0006 a0074c0030t0011	a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0010t0004g0017 others(14): Show a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0010t0004g0017 a0001c0010t0007g0088 a0001c0018t0011g0183 a0001c0066t0006g0124 a0002c0007t0001g0100 a0006c0042t0006g0035 a0008c0024t0003g0052 a0008c0024t0003g0053 a0008c0102t0002g0055 a0013c0082t0022g0002 a0013c0083t0021g0004 a0016c0015t0002g0078 a0046c0077t0003g0012 a0058c0068t0006g0181 a0074c0030t0011g0010	17	188	0.0904	33	c.330 others(54): Show c.3300+37445_3300+37446insATAATATATTTTTATATATATTTA TATTATATA		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	83096804	A A	ATATATAA others(26): Show ATATATAATATAAATATATATATAAATATATTAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00544.hp2 others(30): Show HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00735.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01361.hp2 HG01496.hp1 HG01934.hp2 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02738.hp2 HG03927.hp2 HG04199.hp1 NA18953.hp2 NA18954.hp1 NA18963.hp1 NA18981.hp2 NA18984.hp2 NA18988.hp1 NA18993.hp2 NA19012.hp1 NA19057.hp2 NA19068.hp1 NA19070.hp1 NA19088.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011 a0017 a0023 a0035 a0041 a0050 a0051 a0052 a0054 a0062 a0063 a0065 a0068	a0001c0001 a0002c0004 a0002c0007 others(18): Show a0001c0001 a0002c0004 a0002c0007 a0003c0022 a0004c0002 a0005c0005 a0010c0011 a0011c0027 a0011c0040 a0017c0110 a0023c0021 a0035c0043 a0041c0036 a0050c0054 a0051c0057 a0052c0056 a0054c0065 a0062c0106 a0063c0107 a0065c0109 a0068c0101	a0001c0001t0018 a0002c0004t0007 a0002c0007t0001 others(19): Show a0001c0001t0018 a0002c0004t0007 a0002c0007t0001 a0003c0022t0003 a0004c0002t0001 a0005c0005t0001 a0005c0005t0028 a0010c0011t0001 a0011c0027t0001 a0011c0040t0001 a0017c0110t0004 a0023c0021t0002 a0035c0043t0004 a0041c0036t0001 a0050c0054t0001 a0051c0057t0001 a0052c0056t0003 a0054c0065t0020 a0062c0106t0001 a0063c0107t0004 a0065c0109t0004 a0068c0101t0001	a0001c0001t0018g0144 a0002c0004t0007g0097 a0002c0004t0007g0099 others(30): Show a0001c0001t0018g0144 a0002c0004t0007g0097 a0002c0004t0007g0099 a0002c0004t0007g0108 a0002c0007t0001g0142 a0003c0022t0003g0167 a0004c0002t0001g0016 a0004c0002t0001g0083 a0004c0002t0001g0095 a0004c0002t0001g0096 a0004c0002t0001g0105 a0004c0002t0001g0106 a0005c0005t0001g0159 a0005c0005t0001g0168 a0005c0005t0001g0172 a0005c0005t0001g0174 a0005c0005t0028g0153 a0010c0011t0001g0164 a0011c0027t0001g0046 a0011c0040t0001g0043 a0017c0110t0004g0049 a0023c0021t0002g0093 a0023c0021t0002g0094 a0035c0043t0004g0044 a0041c0036t0001g0041 a0050c0054t0001g0129 a0051c0057t0001g0103 a0052c0056t0003g0101 a0054c0065t0020g0098 a0062c0106t0001g0069 a0063c0107t0004g0068 a0065c0109t0004g0072 a0068c0101t0001g0054	33	188	0.1755	33	c.330 others(54): Show c.3300+37445_3300+37446insATAATATATTTATATATATATTTA TATTATATA		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	83096920	T T	TATAATAT others(26): Show TATAATATAATATAATATATTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG02257.hp2 others(7): Show HG01099.hp1 HG01891.hp1 HG02257.hp2 HG02280.hp2 HG02615.hp1 HG02895.hp2 HG02922.hp2 HG03098.hp2 HG03486.hp1 NA18522.hp2	a0001 a0009 a0018 others(1): Show a0001 a0009 a0018 a0059	a0001c0016 a0001c0059 a0009c0006 others(3): Show a0001c0016 a0001c0059 a0009c0006 a0009c0031 a0018c0033 a0059c0051	a0001c0016t0010 a0001c0016t0011 a0001c0059t0003 others(5): Show a0001c0016t0010 a0001c0016t0011 a0001c0059t0003 a0009c0006t0010 a0009c0006t0023 a0009c0031t0025 a0018c0033t0003 a0059c0051t0003	a0001c0016t0010g0143 a0001c0016t0011g0057 a0001c0059t0003g0122 others(7): Show a0001c0016t0010g0143 a0001c0016t0011g0057 a0001c0059t0003g0122 a0009c0006t0010g0006 a0009c0006t0010g0007 a0009c0006t0010g0008 a0009c0006t0023g0005 a0009c0031t0025g0011 a0018c0033t0003g0060 a0059c0051t0003g0123	10	188	0.0532	33	c.330 others(54): Show c.3300+37297_3300+37329dupTTATATAATATATAATATATTATA TTATATTAT		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCM1_chr8_17917988_18034948	18014745	C C	CCTAGAGT others(26): Show CCTAGAGTCAAAGAAGTTAAATCTGCTCAGGAAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0019 a0011c0018t0019	a0011c0018t0019g0188 a0011c0018t0019g0189 a0011c0018t0019g0190 a0011c0018t0019g0188 a0011c0018t0019g0189 a0011c0018t0019g0190	3	368	0.0082	33	c.574 others(42): Show c.5749_5781dupAGAGTCAAAGAAGTTAAATCTGCTCAGGAAACT	p.Arg others(15): Show p.Arg1917_Thr1927dup	PCM1	ENSG00000078674.20	transcript	ENST00000325083.13	protein_coding	36/39	6073/8652	5782/6075	1928/2024		INFO_REALIGN_3_PRIME	chr8	TogoVar
PCNP_chr3_101569180_101599465	101586571	T T	TGTGAGAG others(26): Show TGTGAGAGAGAGAGAGAGAGAGTTTCTTGTTTCA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	424	0.0024	33	c.354 others(50): Show c.354+1061_354+1062insTGAGAGAGAGAGAGAGAGAGTTTCTTGT TTCAG		PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNP_chr3_101569180_101599465	101586601	C C	CAGAGAGA others(26): Show CAGAGAGAGAGAGAGAGAGAGTTTCTTGTTTCAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03139.hp2 HG02723.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0080 a0001c0001t0001g0081	2	424	0.0047	33	c.354 others(50): Show c.354+1111_354+1112insTTCTTGTTTCAGAGAGAGAGAGAGAGAG AGAGT		PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNX1_chr14_70902459_71120382	70910049	T T	TCCTCCTC others(26): Show TCCTCCTCCCCCCCCTCCTCCTCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	352	0.0028	33	c.153 others(50): Show c.153+2054_153+2055insCCCCCCTCCTCCTCCCCCTCCTCCCCCT CCTCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910049	T T	TCCTCCTC others(26): Show TCCTCCTCCTCCCCCCCCTCCTCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(9): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG01167.hp1 HG01516.hp1 NA18946.hp1 NA18957.hp2 NA18998.hp1 NA19058.hp1 NA19060.hp1 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0055 a0001c0001t0061	a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0192 others(9): Show a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0247 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0008g0115 a0001c0001t0008g0164 a0001c0001t0008g0190 a0001c0001t0055g0194 a0001c0001t0061g0193	12	352	0.0341	33	c.153 others(50): Show c.153+2057_153+2058insCCCCCCTCCTCCCCCTCCTCCCCCTCCT CCTCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910049	T T	TCCTCCTC others(26): Show TCCTCCTCCTCCTCCCCCTCCTCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02886.hp1 others(1): Show HG02257.hp2 HG02486.hp2 HG02886.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0222 a0001c0001t0004g0221 a0001c0001t0008g0223 others(1): Show a0001c0001t0001g0222 a0001c0001t0004g0221 a0001c0001t0008g0223 a0001c0001t0008g0243	4	352	0.0114	33	c.153 others(50): Show c.153+2069_153+2070insCCCTCCTCCCCCTCCTCCTCCTCCCCCT CCTCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910139	C C	CCCTCCCC others(26): Show CCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0225 a0001c0001t0008g0225	1	352	0.0028	33	c.153 others(50): Show c.153+2147_153+2148insCCCTCCTCCCCCTCCTCCCCCTCCTCCC CCTCC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910189	C C	CTCCTCCT others(26): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0058 a0001c0002t0025g0058	1	352	0.0028	33	c.153 others(50): Show c.153+2203_153+2204insCTCCTCCTCCTCCTCGTCCTCCTCCTCC TCCTC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910189	C C	CTCCTCCT others(26): Show CTCCTCCTCGTCCTCCTCCTCCTCCTCCTCCTCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0086 a0001c0004t0009g0086	1	352	0.0028	33	c.153 others(50): Show c.153+2194_153+2195insGTCCTCCTCCTCCTCCTCCTCCTCGTCC TCCTC		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71119428	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02723.hp1 NA18969.hp1 others(2): Show HG01192.hp2 HG02723.hp1 NA18969.hp1 NA18988.hp1 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0032 a0001c0002 a0001c0032	a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 others(2): Show a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0035 a0001c0032t0011	a0001c0002t0009g0066 a0001c0002t0011g0251 a0001c0002t0012g0278 others(2): Show a0001c0002t0009g0066 a0001c0002t0011g0251 a0001c0002t0012g0278 a0001c0002t0035g0313 a0001c0032t0011g0307	5	352	0.0142	33	c.94 others(44): Show c.9493_*9494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding					4047		chr14	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(26): Show ATTATTATTATTATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 NA18747.hp1 NA18979.hp1 others(1): Show HG02135.hp2 NA18747.hp1 NA18979.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0072 a0001c0001t0004g0073 others(1): Show a0001c0001t0004g0068 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0096	4	342	0.0117	33	c.-50 others(44): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAAAAATAATAATAATAA		PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding					4911		chr3	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(26): Show ATTATTATTATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG03927.hp2 NA18989.hp1 others(3): Show HG01081.hp2 HG03927.hp2 NA18989.hp1 NA18998.hp1 NA19062.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0113 a0001c0001t0002g0103 a0001c0001t0002g0107 others(3): Show a0001c0001t0001g0113 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0004g0069 a0001c0001t0004g0074 a0001c0001t0006g0080	6	342	0.0175	33	c.-50 others(44): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAAAAAAAATAATAATAA		PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding					4911		chr3	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(26): Show ATTATTATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	342	0.0029	33	c.-50 others(44): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAA		PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding					4911		chr3	TogoVar
PCSK6_chr15_101298933_101494707	101334169	C C	CGACACAG others(26): Show CGACACAGGAAGTTGTTCTCACCGCTGCAGCAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG01516.hp1 others(15): Show HG00099.hp2 HG00597.hp2 HG01516.hp1 HG01891.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19030.hp1 NA19081.hp2 NA19240.hp1 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0058 a0002c0008 a0002c0017 a0005c0071 a0006c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0006 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0006 a0001c0003t0001 a0001c0003t0005 a0001c0004t0002 a0001c0006t0001 a0001c0007t0005 a0001c0010t0002 a0001c0010t0005 a0001c0013t0001 a0001c0058t0005 a0002c0008t0002 a0002c0017t0001 a0005c0071t0001 a0006c0021t0002	a0001c0001t0001g0183 a0001c0001t0001g0267 a0001c0001t0002g0270 others(15): Show a0001c0001t0001g0183 a0001c0001t0001g0267 a0001c0001t0002g0270 a0001c0001t0002g0296 a0001c0002t0006g0283 a0001c0003t0001g0073 a0001c0003t0005g0061 a0001c0004t0002g0104 a0001c0006t0001g0115 a0001c0007t0005g0088 a0001c0010t0002g0251 a0001c0010t0005g0255 a0001c0013t0001g0135 a0001c0058t0005g0307 a0002c0008t0002g0014 a0002c0017t0001g0033 a0005c0071t0001g0329 a0006c0021t0002g0002	18	336	0.0536	33	c.185 others(52): Show c.1859-2171_1859-2139dupACTGCTGCAGCGGTGAGAACAACTTC CTGTGTC		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101412712	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0104 a0001c0004t0002g0104	1	336	0.0030	33	c.824 others(52): Show c.824-14137_824-14136insTATATATATATATATATATATATATA TATATAT		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21						chr15	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(26): Show TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	372	0.0027	33	c.13 others(44): Show c.1379_*1380insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC		PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding					381		chr5	TogoVar
PCYT1B_chrX_24553087_24652347	24637489	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0146 a0001c0002t0064g0146	1	260	0.0039	33	c.117 others(50): Show c.117+9499_117+9500insATATATATATATATATATATATATATAT ATATA		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0189 a0001c0002t0003g0189	1	260	0.0039	33	c.117 others(50): Show c.117+9497_117+9498insATATATATATATATATATATATATTTTT TTTTT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0092 a0001c0002t0092	a0001c0002t0092g0171 a0001c0002t0092g0171	1	260	0.0039	33	c.117 others(50): Show c.117+9497_117+9498insATATATATATATATATATATATATATTT TTTTT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01358.hp1 HG00621.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0080 a0001c0001t0011g0026 a0001c0001t0001g0080 a0001c0001t0011g0026	2	260	0.0077	33	c.117 others(50): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATTTT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19011.hp2 NA19072.hp1 others(2): Show NA18961.hp1 NA19011.hp2 NA19072.hp1 NA19086.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0037 a0001c0001t0001 a0001c0001t0002 a0001c0001t0037	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0076 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0076 a0001c0001t0002g0077 a0001c0001t0037g0006	5	260	0.0192	33	c.117 others(50): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03491.hp1 HG03492.hp1 HG02615.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0029g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0029g0063	3	260	0.0115	33	c.117 others(50): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATA		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PC_chr11_66843420_66963383	66959935	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	274	0.0037	33	c.-18 others(44): Show c.-1842_-1841insAAAAAAAAAAATATATATATATATATATATATA		PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding					1553		chr11	TogoVar
PDCD6_chr5_266646_319974	298784	C C	CAGCTGCT others(26): Show CAGCTGCTCCCCCCAGCTGCTCCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0304 a0002c0003t0001g0304	1	360	0.0028	33	c.164 others(50): Show c.164-5381_164-5380insCAGCTGCTCCCCCCCTCCCCTAGCTGCT CCCCC		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE4D_chr5_58964038_59898726	59200114	C C	CATACATG others(26): Show CATACATGCATGTAGACATACATGTATGCACACA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	74	0.0135	33	c.648 others(50): Show c.648-6579_648-6578insTGTGTGCATACATGTATGTCTACATGCA TGTAT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	2/14						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18977.hp2 HG03579.hp1 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0049 a0001c0002t0001 a0001c0005t0049	a0001c0002t0001g0267 a0001c0005t0049g0321 a0001c0002t0001g0267 a0001c0005t0049g0321	2	328	0.0061	33	c.858 others(50): Show c.858+2796_858+2797insAAAAAAAAAAATATATATATATATATAT ATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp2 HG02109.hp1 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0012 a0002c0003 a0002c0012	a0002c0003t0026 a0002c0012t0018 a0002c0003t0026 a0002c0012t0018	a0002c0003t0026g0214 a0002c0012t0018g0215 a0002c0003t0026g0214 a0002c0012t0018g0215	2	328	0.0061	33	c.858 others(50): Show c.858+2796_858+2797insAAAAAAAAAAAAATATATATATATATAT ATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar

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