Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PAFAH1B2_chr11_117139287_117176045	117172382	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	432	0.0023	-23	c.46 others(34): Show c.4684_*4706delTATATATATATATATATATATAT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1338		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172384	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02083.hp2 NA19086.hp2 HG00673.hp1 HG02083.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0043 a0001c0001t0001 a0001c0001t0043	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0043g0012 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0043g0012	3	432	0.0069	-23	c.46 others(34): Show c.4686_*4708delTATATATATATATATATATATTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1340		chr11	TogoVar
PAG1_chr8_80962810_81117068	80979789	TACATATG others(16): Show TACATATGAAATATGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0042 a0002c0005t0042	a0002c0005t0042g0170 a0002c0005t0042g0170	1	256	0.0039	-23	c.936 others(38): Show c.936+623_936+645delGTATATATACATATTTCATATGT	PAG1	ENSG00000076641.4	transcript	ENST00000220597.4	protein_coding	8/8			chr8	TogoVar
PAGE1_chrX_49682447_49700984	49689566	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	2	322	0.0062	-23	c.293 others(36): Show c.293-46_293-24delATATATATATATATTTTTTTTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689570	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	322	0.0031	-23	c.293 others(36): Show c.293-50_293-28delATATATATATATATATATTTTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49689572	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp2 HG02280.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	322	0.0062	-23	c.293 others(36): Show c.293-52_293-30delATATATATATATATATATATTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE4_chrX_49824303_49839264	49839162	TTTGTGAA others(16): Show TTTGTGAAAACTCAGTACGGCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG01884.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0011	2	290	0.0069	-23	c.53 others(34): Show c.5301_*5323delTTGTGAAAACTCAGTACGGCTGC	PAGE4	ENSG00000101951.17	transcript	ENST00000218068.7	protein_coding		4899		chrX	TogoVar
PAH_chr12_102831889_102922244	102871932	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03942.hp1 HG02004.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0199 a0001c0001t0002g0161 a0001c0001t0001g0199 a0001c0001t0002g0161	2	312	0.0064	-23	c.442 others(40): Show c.442-5292_442-5270delATATATTTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871934	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01069.hp2 others(30): Show HG00323.hp1 HG00639.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01346.hp1 HG01943.hp1 HG01981.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG04204.hp1 NA18522.hp1 NA18942.hp1 NA19007.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 a0001c0001 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0007t0002 a0001c0008t0001	a0001c0001t0001g0053 a0001c0001t0001g0184 a0001c0001t0001g0202 others(29): Show a0001c0001t0001g0053 a0001c0001t0001g0184 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0005 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0217 a0001c0001t0004g0262 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0007t0002g0178 a0001c0008t0001g0228	33	312	0.1058	-23	c.442 others(40): Show c.442-5294_442-5272delATATATATTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871936	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03579.hp1 NA18992.hp1 others(2): Show HG01358.hp1 HG03579.hp1 NA18992.hp1 NA19012.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0187 others(2): Show a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0004g0294	5	312	0.0160	-23	c.442 others(40): Show c.442-5296_442-5274delATATATATATTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871938	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03540.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0189 a0001c0001t0002g0008 a0001c0001t0001g0189 a0001c0001t0002g0008	2	312	0.0064	-23	c.442 others(40): Show c.442-5298_442-5276delATATATATATATTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAK2_chr3_196734857_196837647	196759498	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show HG01496.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 NA18940.hp2 NA18971.hp1 NA18980.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0008 a0001c0003t0006 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0003t0006 a0001c0003t0008	a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 a0001c0003t0006g0067 a0001c0003t0006g0069 a0001c0003t0008g0063 a0001c0003t0008g0064 a0001c0003t0008g0065	8	178	0.0449	-23	c.-22 others(42): Show c.-22+19358_-22+19380delTTTTTTTTTTTTTTTTTTTTTTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196804727	CCAAAGTG others(16): Show CCAAAGTGCTAGGATTACAGGCAT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0107 a0001c0001t0060g0107	1	178	0.0056	-23	c.437 others(38): Show c.437-624_437-602delCAAAGTGCTAGGATTACAGGCAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	4/14			chr3	TogoVar
PALB2_chr16_23598165_23646310	23645110	TATATATA others(16): Show TATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02897.hp2 HG03471.hp2 others(3): Show HG02647.hp2 HG02897.hp2 HG03471.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0002	a0002c0002t0001g0286 a0003c0003t0002g0039 a0003c0003t0002g0040 others(3): Show a0002c0002t0001g0286 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045	6	326	0.0184	-23	c.-39 others(34): Show c.-3976_-3954delTATATATATATATATATATATAT	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3801		chr16	TogoVar
PALLD_chr4_168492052_168933441	168759203	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG04115.hp2 NA19043.hp2 others(1): Show HG01109.hp1 HG04115.hp2 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0008 a0001c0001t0009 a0001c0004t0018 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0004t0018 a0002c0003t0003	a0001c0001t0008g0053 a0001c0001t0009g0150 a0001c0004t0018g0021 others(1): Show a0001c0001t0008g0053 a0001c0001t0009g0150 a0001c0004t0018g0021 a0002c0003t0003g0033	4	156	0.0256	-23	c.196 others(44): Show c.1964+47281_1964+47303delTATATATATATATATATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21			chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110077530	CGTCTCTG others(16): Show CGTCTCTGACTCATGGGTCAGCGG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00621.hp1 others(48): Show HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01361.hp2 HG01516.hp2 HG01975.hp1 HG01978.hp2 HG02080.hp1 HG02602.hp2 HG03491.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18944.hp2 NA18960.hp1 NA18968.hp1 NA18971.hp2 NA18982.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19010.hp1 NA19062.hp1 NA19066.hp1 NA19080.hp1 NA19080.hp2 NA19086.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0010 a0014 a0015	a0001c0001 a0002c0002 a0002c0004 others(5): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0010c0019 a0014c0014 a0015c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0030 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0017 a0002c0002t0019 a0002c0002t0021 a0002c0002t0035 a0002c0004t0001 a0002c0004t0002 a0003c0003t0001 a0003c0003t0005 a0004c0005t0002 a0010c0019t0001 a0014c0014t0004 a0015c0012t0001	a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0085 others(48): Show a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0002g0021 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0071 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0113 a0001c0001t0002g0135 a0001c0001t0002g0154 a0001c0001t0005g0051 a0001c0001t0009g0069 a0001c0001t0009g0079 a0001c0001t0030g0045 a0002c0002t0003g0007 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0090 a0002c0002t0004g0037 a0002c0002t0004g0132 a0002c0002t0004g0152 a0002c0002t0004g0176 a0002c0002t0004g0177 a0002c0002t0004g0184 a0002c0002t0005g0110 a0002c0002t0005g0111 a0002c0002t0017g0142 a0002c0002t0019g0047 a0002c0002t0021g0019 a0002c0002t0035g0072 a0002c0004t0001g0183 a0002c0004t0002g0107 a0002c0004t0002g0179 a0003c0003t0001g0046 a0003c0003t0001g0062 a0003c0003t0001g0067 a0003c0003t0001g0123 a0003c0003t0001g0185 a0003c0003t0005g0070 a0004c0005t0002g0139 a0010c0019t0001g0010 a0014c0014t0004g0126 a0015c0012t0001g0117	51	222	0.2297	-23	c.583 others(42): Show c.583-58593_583-58571delTCTGACTCATGGGTCAGCGGGTC	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM_chr19_703935_753329	741381	TGGGCTGC others(16): Show TGGGCTGCAGGAGTGAGGGGAGAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG02083.hp1 others(16): Show HG00408.hp1 HG00597.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02602.hp1 HG03688.hp2 HG04115.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18960.hp1 NA18963.hp1 NA18968.hp1 NA19012.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0004 a0001c0002t0005 a0002c0001t0005 a0001c0002t0004 a0001c0002t0005 a0002c0001t0005	a0001c0002t0004g0019 a0001c0002t0004g0076 a0001c0002t0004g0197 others(16): Show a0001c0002t0004g0019 a0001c0002t0004g0076 a0001c0002t0004g0197 a0001c0002t0004g0199 a0001c0002t0005g0087 a0001c0002t0005g0104 a0001c0002t0005g0106 a0001c0002t0005g0141 a0001c0002t0005g0143 a0001c0002t0005g0193 a0001c0002t0005g0220 a0001c0002t0005g0223 a0001c0002t0005g0237 a0001c0002t0005g0246 a0001c0002t0005g0326 a0001c0002t0005g0334 a0001c0002t0005g0335 a0002c0001t0005g0089 a0002c0001t0005g0189	19	404	0.0470	-23	c.634 others(38): Show c.634+909_634+931delAGTGAGGGGAGACGGGCTGCAGG	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM_chr19_703935_753329	741473	CGGGCTGC others(16): Show CGGGCTGCAGGGGTGAGGGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02970.hp1 others(2): Show HG02145.hp2 HG02451.hp1 HG02970.hp1 HG03209.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0009 a0001c0002t0001g0265 a0002c0001t0001g0046 others(1): Show a0001c0002t0001g0009 a0001c0002t0001g0265 a0002c0001t0001g0046 a0002c0001t0001g0119	5	404	0.0124	-23	c.634 others(40): Show c.634+1012_634+1034delCTGGGCTGCAGGGGTGAGGGGAG	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALS1_chr14_67236435_67341061	67284547	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	290	0.0035	-23	c.367 others(40): Show c.367+5029_367+5051delAAAAAAAAAAAAAAAAAAAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PANK1_chr10_89577988_89650242	89595826	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02145.hp1 HG02647.hp2 others(4): Show HG01433.hp1 HG02145.hp1 HG02647.hp2 HG02809.hp1 HG02895.hp2 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0108 a0001c0001t0001g0216 a0001c0002t0002g0251 others(4): Show a0001c0001t0001g0108 a0001c0001t0001g0216 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0002g0255 a0001c0002t0002g0257 a0001c0002t0002g0266	7	366	0.0191	-23	c.900 others(40): Show c.900-1860_900-1838delATATATATATATATATTTTTTTT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar
PANK1_chr10_89577988_89650242	89595830	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0241 a0001c0004t0001g0241	1	366	0.0027	-23	c.900 others(40): Show c.900-1864_900-1842delATATATATATATATATATATTTT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar
PANK1_chr10_89577988_89650242	89595832	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0237 a0001c0004t0001g0237	1	366	0.0027	-23	c.900 others(40): Show c.900-1866_900-1844delATATATATATATATATATATATT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar
PANK2_chr20_3884387_3934887	3888162	AAGGATCA others(16): Show AAGGATCACTGCCCAAGGGGCATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0188 a0001c0001t0079g0188	1	422	0.0024	-23	c.-12 others(34): Show c.-1268_-1246delAGGATCACTGCCCAAGGGGCATT	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding		1224		chr20	TogoVar
PANK4_chr1_2503537_2531596	2530947	ACCCGGCA others(16): Show ACCCGGCAGCTCTCCCCGCGGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	399	0.0025	-23	c.-43 others(34): Show c.-4383_-4361delGCTCCGCGGGGAGAGCTGCCGGG	PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding		4352		chr1	TogoVar
PAOX_chr10_133374262_133396694	133379846	GACAGGGC others(16): Show GACAGGGCCCTGCCCTGGGGGACC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	346	0.0029	-23	c.182 others(38): Show c.182-142_182-120delGCCCTGGGGGACCACAGGGCCCT	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300649	CTTTTCTT others(16): Show CTTTTCTTTCTTTCTTTCATTCTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	284	0.0035	-23	c.-27 others(42): Show c.-277+1595_-277+1617delTTTCTTTCTTTCTTTCATTCTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	204570887	CAACTGAG others(16): Show CAACTGAGGTGTATAAGCTGTTGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp2 NA18522.hp2 HG02630.hp2 HG03130.hp2 NA18522.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0012 a0002c0003 a0004c0012	a0002c0003t0003 a0002c0003t0016 a0004c0012t0003 a0002c0003t0003 a0002c0003t0016 a0004c0012t0003	a0002c0003t0003g0047 a0002c0003t0016g0046 a0004c0012t0003g0048 a0002c0003t0003g0047 a0002c0003t0016g0046 a0004c0012t0003g0048	3	54	0.0556	-23	c.120 others(42): Show c.120+24837_120+24859delTAACTGAGGTGTATAAGCTGTTG	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380273	ATATAATA others(16): Show ATATAATATATAAAGAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp1 NA19030.hp2 others(1): Show HG02886.hp1 HG03139.hp1 NA19030.hp2 NA19043.hp2	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0007	a0002c0003 a0004c0011 a0006c0014 others(1): Show a0002c0003 a0004c0011 a0006c0014 a0007c0017	a0002c0003t0008 a0004c0011t0003 a0006c0014t0011 others(1): Show a0002c0003t0008 a0004c0011t0003 a0006c0014t0011 a0007c0017t0012	a0002c0003t0008g0049 a0004c0011t0003g0043 a0006c0014t0011g0023 others(1): Show a0002c0003t0008g0049 a0004c0011t0003g0043 a0006c0014t0011g0023 a0007c0017t0012g0006	4	54	0.0741	-23	c.263 others(44): Show c.2631-20735_2631-20713delATATATAAAGAATATATATTATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34371486	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0044 a0001c0003t0018g0044	1	100	0.0100	-23	c.170 others(41): Show c.1707+989_1707+1011delTTTTTTTTTTTTTTTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	12/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34383684	GTGTATCT others(16): Show GTGTATCTGAATACAACCCAATAT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01109.hp1 others(1): Show HG00735.hp1 HG01099.hp1 HG01109.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0001t0001 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0084 a0001c0001t0005g0098 a0001c0002t0002g0002 others(1): Show a0001c0001t0001g0084 a0001c0001t0005g0098 a0001c0002t0002g0002 a0001c0002t0002g0005	4	100	0.0400	-23	c.101 others(40): Show c.1016+422_1016+444delATATTGGGTTGTATTCAGATACA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	8/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34505574	TCTGTGGA others(16): Show TCTGTGGACACCCTACAGGCAGCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG02723.hp2 HG00741.hp2 HG01109.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007	a0001c0002t0002g0039 a0001c0002t0003g0057 a0001c0002t0007g0031 a0001c0002t0002g0039 a0001c0002t0003g0057 a0001c0002t0007g0031	3	100	0.0300	-23	c.403 others(42): Show c.403+11382_403+11404delGGCTGCCTGTAGGGTGTCCACAG	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	3/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34651011	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG00735.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0084 a0001c0001t0005g0098 a0001c0001t0001g0084 a0001c0001t0005g0098	2	100	0.0200	-23	c.222 others(42): Show c.222+45284_222+45306delTTTTTTTTTTTTTTTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34681754	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	100	0.0100	-23	c.222 others(42): Show c.222+14541_222+14563delAAAAAAAAATATATATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARL_chr3_183824271_183889880	183882222	AATATATA others(16): Show AATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	358	0.0028	-23	c.125 others(40): Show c.125+2477_125+2499delAATATATATATATATATATATAT	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARL_chr3_183824271_183889880	183882223	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp2 HG02055.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0189 a0002c0002t0001g0168 a0002c0002t0001g0189	2	358	0.0056	-23	c.125 others(40): Show c.125+2476_125+2498delAAATATATATATATATATATATA	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARP14_chr3_122675839_122735840	122703008	AAACAAAA others(16): Show AAACAAAAAAAAAAAACAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp2 others(31): Show HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01255.hp1 HG02280.hp2 HG02293.hp1 HG02572.hp2 HG02738.hp1 HG02809.hp1 HG03098.hp2 HG03491.hp1 HG04184.hp2 NA18941.hp2 NA18964.hp1 NA18969.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18992.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19011.hp1 NA19056.hp1 NA19058.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp2	a0002 a0008 a0009 a0002 a0008 a0009	a0002c0002 a0008c0014 a0009c0013 a0002c0002 a0008c0014 a0009c0013	a0002c0002t0004 a0002c0002t0013 a0002c0002t0025 others(3): Show a0002c0002t0004 a0002c0002t0013 a0002c0002t0025 a0002c0002t0026 a0008c0014t0004 a0009c0013t0013	a0002c0002t0004g0001 a0002c0002t0004g0006 a0002c0002t0004g0020 others(27): Show a0002c0002t0004g0001 a0002c0002t0004g0006 a0002c0002t0004g0020 a0002c0002t0004g0029 a0002c0002t0004g0033 a0002c0002t0004g0042 a0002c0002t0004g0047 a0002c0002t0004g0048 a0002c0002t0004g0051 a0002c0002t0004g0052 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0004g0055 a0002c0002t0004g0056 a0002c0002t0004g0057 a0002c0002t0004g0060 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0002t0004g0064 a0002c0002t0004g0065 a0002c0002t0004g0066 a0002c0002t0004g0139 a0002c0002t0004g0160 a0002c0002t0004g0171 a0002c0002t0004g0309 a0002c0002t0013g0050 a0002c0002t0025g0061 a0002c0002t0026g0006 a0008c0014t0004g0067 a0009c0013t0013g0058	34	366	0.0929	-23	c.308 others(40): Show c.3082-731_3082-709delCAAAAAAAAAAAACAAAAAACAA	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP2_chr14_20338635_20362904	20347378	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	420	0.0024	-23	c.324 others(38): Show c.324+467_324+489delATATATATATATATATATATTTT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARVG_chr22_44175925_44213469	44210392	CTCAAGAT others(16): Show CTCAAGATCCTTAATTTAATTATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0174 a0001c0005t0002g0174	1	422	0.0024	-23	c.39 others(34): Show c.3967_*3989delTCAAGATCCTTAATTTAATTATA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding		1924		chr22	TogoVar
PASK_chr2_241101099_241154472	241128996	TGCCTCTC others(16): Show TGCCTCTCTCCCTCCATGTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01099.hp2 others(66): Show HG00597.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01516.hp1 HG01884.hp2 HG01934.hp2 HG02027.hp2 HG02056.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03654.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18951.hp1 NA18955.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA19056.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19084.hp2 NA19087.hp2 NA19089.hp1 NA19091.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012 a0023	a0001c0001 a0001c0002 a0002c0005 others(12): Show a0001c0001 a0001c0002 a0002c0005 a0002c0006 a0002c0029 a0003c0003 a0004c0004 a0004c0018 a0004c0057 a0005c0013 a0005c0021 a0006c0009 a0006c0033 a0012c0035 a0023c0054	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 a0002c0005t0002 a0002c0006t0002 a0002c0029t0002 a0003c0003t0002 a0004c0004t0001 a0004c0018t0002 a0004c0057t0013 a0005c0013t0001 a0005c0013t0002 a0005c0021t0002 a0006c0009t0003 a0006c0033t0009 a0012c0035t0002 a0023c0054t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0001g0021 others(58): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0002t0001g0021 a0001c0002t0001g0179 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0204 a0001c0002t0001g0213 a0001c0002t0001g0216 a0001c0002t0002g0297 a0002c0005t0001g0315 a0002c0005t0002g0026 a0002c0005t0002g0288 a0002c0005t0002g0289 a0002c0006t0002g0279 a0002c0006t0002g0286 a0002c0029t0002g0255 a0002c0029t0002g0256 a0003c0003t0002g0046 a0003c0003t0002g0075 a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0088 a0004c0004t0001g0180 a0004c0004t0001g0187 a0004c0004t0001g0201 a0004c0004t0001g0203 a0004c0004t0001g0205 a0004c0004t0001g0206 a0004c0004t0001g0207 a0004c0004t0001g0210 a0004c0004t0001g0211 a0004c0004t0001g0212 a0004c0004t0001g0215 a0004c0004t0001g0217 a0004c0004t0001g0218 a0004c0004t0001g0219 a0004c0004t0001g0221 a0004c0018t0002g0058 a0004c0057t0013g0032 a0005c0013t0001g0131 a0005c0013t0001g0232 a0005c0013t0002g0089 a0005c0013t0002g0252 a0005c0013t0002g0253 a0005c0013t0002g0280 a0005c0013t0002g0285 a0005c0013t0002g0290 a0005c0013t0002g0317 a0005c0021t0002g0254 a0005c0021t0002g0282 a0005c0021t0002g0284 a0006c0009t0003g0004 a0006c0009t0003g0009 a0006c0009t0003g0031 a0006c0009t0003g0035 a0006c0009t0003g0036 a0006c0009t0003g0038 a0006c0033t0009g0040 a0012c0035t0002g0240 a0023c0054t0001g0169	69	376	0.1835	-23	c.146 others(42): Show c.1464-1568_1464-1546delGGGAGACATGGAGGGAGAGAGGC	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	9/17			chr2	TogoVar
PASK_chr2_241101099_241154472	241129021	CCTCTCTC others(16): Show CCTCTCTCCCTCCATGTCTCCCAT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	376	0.0027	-23	c.146 others(42): Show c.1464-1593_1464-1571delATGGGAGACATGGAGGGAGAGAG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	9/17			chr2	TogoVar
PAWR_chr12_79579879_79695964	79613965	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	256	0.0039	-23	c.649 others(38): Show c.649-379_649-357delAAAAAAAAATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79689397	ACAGCCAA others(16): Show ACAGCCAAGTCCAGGTGGCCAAGT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18956.hp2 NA18942.hp2 NA18956.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0014 a0001c0003t0003 a0001c0003t0014	a0001c0003t0003g0161 a0001c0003t0014g0162 a0001c0003t0003g0161 a0001c0003t0014g0162	2	256	0.0078	-23	c.516 others(38): Show c.516+309_516+331delACTTGGCCACCTGGACTTGGCTG	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX8_chr2_113210997_113283921	113255230	GGGGAGGA others(16): Show GGGGAGGAGGGAGGGGAGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0030 a0001c0001t0019g0030	1	300	0.0033	-23	c.26- others(38): Show c.26-8334_26-8312delTCCCTCCTCCCCTCCCTCCTCCC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	2/11			chr2	TogoVar
PBLD_chr10_68277660_68337928	68306061	AGGTCAAT others(16): Show AGGTCAATATTCCTTGACCTTGAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp2 HG02976.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0279 a0001c0001t0001g0280	2	364	0.0055	-23	c.84+ others(36): Show c.84+677_84+699delCTCAAGGTCAAGGAATATTGACC	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	2/9			chr10	TogoVar
PBRM1_chr3_52540367_52690913	52596436	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00741.hp1 others(21): Show HG00099.hp2 HG00140.hp1 HG00741.hp1 HG01106.hp1 HG01167.hp1 HG01346.hp1 HG01515.hp2 HG01884.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03704.hp2 HG04228.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0005c0006	a0001c0001t0002 a0001c0001t0015 a0001c0003t0001 others(3): Show a0001c0001t0002 a0001c0001t0015 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0005c0006t0001	a0001c0001t0002g0062 a0001c0001t0002g0102 a0001c0001t0015g0004 others(21): Show a0001c0001t0002g0062 a0001c0001t0002g0102 a0001c0001t0015g0004 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0263 a0001c0003t0001g0266 a0001c0003t0001g0268 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0005t0001g0261 a0001c0005t0001g0262 a0001c0005t0001g0264 a0001c0007t0001g0241 a0005c0006t0001g0259	24	300	0.0800	-23	c.282 others(42): Show c.2824+7062_2824+7084delTTTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	19/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52676130	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	300	0.0033	-23	c.236 others(40): Show c.236+2347_236+2369delATTTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	3/31			chr3	TogoVar
PBX3_chr9_125742373_125972377	125943352	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp1 HG01346.hp2 others(5): Show HG00099.hp1 HG01168.hp1 HG01346.hp2 HG01981.hp1 HG02083.hp1 HG02165.hp1 NA18906.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0177 a0001c0001t0002g0060 a0001c0001t0002g0067 others(5): Show a0001c0001t0001g0177 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0112 a0001c0001t0003g0091 a0001c0001t0007g0090 a0001c0001t0007g0098	8	294	0.0272	-23	c.843 others(40): Show c.843+7770_843+7792delAAAAAAAAAAAAAAAAAAAAAAA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCDH11X_chrX_91774375_92628230	92132285	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0045 a0001c0001t0008g0045	1	154	0.0065	-23	c.303 others(44): Show c.3034-69073_3034-69051delAAAAAAAAAAAAAAAAAAAAAAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	53888679	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp2 HG02258.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0004g0031 a0001c0001t0001g0006 a0001c0001t0004g0031	2	102	0.0196	-23	c.350 others(44): Show c.3501+14541_3501+14563delATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54454300	GATAGATT others(16): Show GATAGATTATAAAGAATTTCATTT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0008 a0021c0026t0008	a0021c0026t0008g0081 a0021c0026t0008g0081	1	102	0.0098	-23	c.157 others(42): Show c.157+73489_157+73511delAAATGAAATTCTTTATAATCTAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar

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