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
PLEKHG4B_chr5_87168_194966	166321	AGCTCACA others(21): Show AGCTCACACTAATGCTCTGACGGGGCGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00673.hp1 others(17): Show HG00140.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01175.hp1 HG01515.hp2 HG03491.hp1 HG03669.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18954.hp1 NA18954.hp2 NA19066.hp1	a0002 a0004 a0026 a0002 a0004 a0026	a0002c0003 a0002c0005 a0004c0006 others(1): Show a0002c0003 a0002c0005 a0004c0006 a0026c0050	a0002c0003t0002 a0002c0003t0011 a0002c0003t0124 others(13): Show a0002c0003t0002 a0002c0003t0011 a0002c0003t0124 a0002c0003t0128 a0002c0003t0135 a0002c0003t0136 a0002c0005t0002 a0002c0005t0003 a0002c0005t0075 a0002c0005t0127 a0002c0005t0129 a0004c0006t0002 a0004c0006t0065 a0004c0006t0123 a0004c0006t0125 a0026c0050t0009	a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0002g0132 others(17): Show a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0002g0132 a0002c0003t0011g0210 a0002c0003t0124g0017 a0002c0003t0128g0029 a0002c0003t0135g0128 a0002c0003t0136g0071 a0002c0005t0002g0064 a0002c0005t0003g0031 a0002c0005t0003g0096 a0002c0005t0075g0076 a0002c0005t0127g0124 a0002c0005t0129g0043 a0004c0006t0002g0051 a0004c0006t0002g0065 a0004c0006t0065g0208 a0004c0006t0123g0003 a0004c0006t0125g0048 a0026c0050t0009g0141	20	210	0.0952	-28	c.347 others(47): Show c.3476+2809_3476+2836delCTAATGCTCTGACGGGGCGGGGCTCA CA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	166517	AGCTCACA others(21): Show AGCTCACACTAATGCTCTGACGGGGCGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00639.hp2 others(23): Show HG00099.hp2 HG00140.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01175.hp1 HG01515.hp2 HG03491.hp1 HG03669.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp2 NA18954.hp1 NA18954.hp2 NA18971.hp2 NA19030.hp2 NA19056.hp1 NA19066.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0026 others(2): Show a0002 a0004 a0026 a0029 a0030	a0002c0003 a0002c0005 a0004c0006 others(3): Show a0002c0003 a0002c0005 a0004c0006 a0026c0050 a0029c0033 a0030c0047	a0002c0003t0002 a0002c0003t0011 a0002c0003t0066 others(19): Show a0002c0003t0002 a0002c0003t0011 a0002c0003t0066 a0002c0003t0071 a0002c0003t0124 a0002c0003t0128 a0002c0003t0135 a0002c0003t0136 a0002c0005t0002 a0002c0005t0003 a0002c0005t0072 a0002c0005t0075 a0002c0005t0127 a0002c0005t0129 a0004c0006t0002 a0004c0006t0065 a0004c0006t0123 a0004c0006t0125 a0004c0006t0134 a0026c0050t0009 a0029c0033t0042 a0030c0047t0131	a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0002g0132 others(23): Show a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0002g0132 a0002c0003t0011g0210 a0002c0003t0066g0209 a0002c0003t0071g0095 a0002c0003t0124g0017 a0002c0003t0128g0029 a0002c0003t0135g0128 a0002c0003t0136g0071 a0002c0005t0002g0064 a0002c0005t0003g0031 a0002c0005t0003g0096 a0002c0005t0072g0153 a0002c0005t0075g0076 a0002c0005t0127g0124 a0002c0005t0129g0043 a0004c0006t0002g0051 a0004c0006t0002g0065 a0004c0006t0065g0208 a0004c0006t0123g0003 a0004c0006t0125g0048 a0004c0006t0134g0011 a0026c0050t0009g0141 a0029c0033t0042g0163 a0030c0047t0131g0067	26	210	0.1238	-28	c.347 others(47): Show c.3477-2776_3477-2749delACGGGGCGGGGCTCACACTAATGCTC TG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHM1_chr17_45430900_45495721	45432814	GTCCCGCG others(21): Show GTCCCGCGCTCCCTCCTCGACTGTGCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	325	0.0031	-28	c.50 others(39): Show c.5016_*5043delGCCGCACAGTCGAGGAGGGAGCGCGGGA	PLEKHM1	ENSG00000225190.12	transcript	ENST00000430334.8	protein_coding		3085		chr17	TogoVar
PLEKHN1_chr1_961482_980865	977724	ACCGACCA others(21): Show ACCGACCAACCCCGGGAACCGCCTCCCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0049 a0002c0049	a0002c0049t0004 a0002c0049t0004	a0002c0049t0004g0077 a0002c0049t0004g0077	1	422	0.0024	-28	c.31 others(39): Show c.3150_*3177delCCGACCAACCCCGGGAACCGCCTCCCAC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1860		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977987	AATCCCCC others(21): Show AATCCCCCCAACCCCAGGAACCGCCTCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0013 a0001c0018t0003g0013	1	422	0.0024	-28	c.34 others(39): Show c.3413_*3440delATCCCCCCAACCCCAGGAACCGCCTCCC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		2123		chr1	TogoVar
PLEK_chr2_68360282_68402453	68383467	AGCCAGGG others(21): Show AGCCAGGGCAGAGGATGAGCAGAGGATGG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0094 a0002c0004t0004g0094	1	374	0.0027	-28	c.472 others(43): Show c.472+893_472+920delCAGGGCAGAGGATGAGCAGAGGATGGGC	PLEK	ENSG00000115956.10	transcript	ENST00000234313.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLET1_chr11_112243153_112265860	112254948	GGTGTGTG others(21): Show GGTGTGTGTGATATGTATGTGAGTGTGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(225): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0009 a0001c0012 others(2): Show a0001c0001 a0001c0009 a0001c0012 a0003c0010 a0007c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0009t0001 a0001c0012t0001 a0003c0010t0001 a0007c0011t0007	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(101): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0006g0091 a0001c0001t0008g0110 a0001c0001t0010g0140 a0001c0009t0001g0161 a0001c0012t0001g0174 a0003c0010t0001g0136 a0007c0011t0007g0173	228	368	0.6196	-28	c.386 others(43): Show c.386+412_386+439delACCACACTCACATACATATCACACACAC	PLET1	ENSG00000188771.5	transcript	ENST00000338832.4	protein_coding	2/3			chr11	TogoVar
PLGRKT_chr9_5352971_5442925	5442061	CATGTGTG others(21): Show CATGTGTGTATATACACACGTATATACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	414	0.0024	-28	c.-44 others(39): Show c.-4433_-4406delATGTATATACGTGTGTATATACACACAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding		4137		chr9	TogoVar
PLPP4_chr10_120452227_120597065	120574160	ACACACAC others(21): Show ACACACACACTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	328	0.0031	-28	c.446 others(43): Show c.446-969_446-942delACACACACTCTCTCTCTCTCTCTCTCTC	PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLPPR1_chr9_101023727_101330135	101078162	AAGAAGAA others(21): Show AAGAAGAAGAAGAAGAAGAAGAAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19070.hp1 HG03704.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0002c0004t0001 a0001c0001t0004 a0002c0004t0001	a0001c0001t0004g0197 a0002c0004t0001g0079 a0001c0001t0004g0197 a0002c0004t0001g0079	2	203	0.0099	-28	c.-46 others(47): Show c.-46+49061_-46+49088delAGAAGAAGAAGAAGAAGAAGAAGAGG AG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7			chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101180121	TATATATA others(21): Show TATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02886.hp2 others(2): Show HG02257.hp2 HG02559.hp1 HG02886.hp2 HG03139.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0001c0001t0002 a0001c0001t0010 a0001c0001t0016	a0001c0001t0002g0002 a0001c0001t0002g0042 a0001c0001t0002g0061 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0042 a0001c0001t0002g0061 a0001c0001t0010g0003 a0001c0001t0016g0048	5	203	0.0246	-28	c.-45 others(45): Show c.-45-5327_-45-5300delTATATATATATATATATATATACACACA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLS1_chr3_142591393_142718664	142695757	CTTACTTA others(21): Show CTTACTTATTTATTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp1 HG00741.hp1 others(11): Show HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01346.hp2 HG02055.hp1 NA18612.hp1 NA18939.hp1 NA18969.hp2 NA18999.hp2 NA19005.hp1 NA19007.hp1 NA19062.hp1 NA19063.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 others(11): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0002t0001g0243	14	276	0.0507	-28	c.125 others(47): Show c.1256+1214_1256+1241delCTTATTTATTTATTTATTTATTTATT TA	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLSCR4_chr3_146187335_146256105	146191722	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	380	0.0026	-28	c.26 others(39): Show c.2661_*2688delAAAAAAAAAAAATATATATATATATATA	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		612		chr3	TogoVar
PLSCR5_chr3_146580837_146610346	146588492	AACAAAAA others(21): Show AACAAAAACAAAAATGCCAATGTCATGAG	A A	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	416	0.0024	-28	c.777 others(45): Show c.777+1133_777+1160delCTCATGACATTGGCATTTTTGTTTTTGT	PLSCR5	ENSG00000231213.7	transcript	ENST00000443512.2	protein_coding	6/7			chr3	TogoVar
PLXDC2_chr10_19811432_20294856	19818227	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0083 a0002c0002t0083	a0002c0002t0083g0077 a0002c0002t0083g0077	1	180	0.0056	-28	c.112 others(45): Show c.112+1055_112+1082delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	19973299	TATATATA others(21): Show TATATATATACTCACATATATATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp2 NA18522.hp1 others(1): Show HG02486.hp1 HG02886.hp2 NA18522.hp1 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0060 a0001c0001t0084 a0001c0001t0085 others(1): Show a0001c0001t0060 a0001c0001t0084 a0001c0001t0085 a0002c0002t0093	a0001c0001t0060g0073 a0001c0001t0084g0141 a0001c0001t0085g0103 others(1): Show a0001c0001t0060g0073 a0001c0001t0084g0141 a0001c0001t0085g0103 a0002c0002t0093g0119	4	180	0.0222	-28	c.113 others(47): Show c.113-28467_113-28440delACTCACATATATATGTATACATATAT AT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20044211	GTCTTTCT others(21): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18964.hp1 HG03669.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0017 a0002c0002t0007g0038 a0002c0002t0002g0017 a0002c0002t0007g0038	2	180	0.0111	-28	c.325 others(45): Show c.325-2601_325-2574delTCTTTCTTTCTTTCTTTCTTTCTTTCTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20051395	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0105 a0001c0001t0094g0105	1	180	0.0056	-28	c.471 others(45): Show c.471+4401_471+4428delATATATATATATATATATATATATATAT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126483	AACACACA others(21): Show AACACACACGTTATATATGTATATATAAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp1 HG03453.hp1 HG02886.hp2 HG02965.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0001c0001t0060 a0002c0002t0006 a0001c0001t0028 a0001c0001t0060 a0002c0002t0006	a0001c0001t0028g0161 a0001c0001t0060g0073 a0002c0002t0006g0075 a0001c0001t0028g0161 a0001c0001t0060g0073 a0002c0002t0006g0075	3	180	0.0167	-28	c.542 others(47): Show c.542-16805_542-16778delACGTTATATATGTATATATAACACAC AC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126613	AACACACA others(21): Show AACACACACGTTATATATGTATATATAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03831.hp1 NA18959.hp2 HG02145.hp2 HG03831.hp1 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0086 a0002c0002t0004 a0001c0001t0003 a0001c0001t0086 a0002c0002t0004	a0001c0001t0003g0178 a0001c0001t0086g0097 a0002c0002t0004g0111 a0001c0001t0003g0178 a0001c0001t0086g0097 a0002c0002t0004g0111	3	180	0.0167	-28	c.542 others(47): Show c.542-16675_542-16648delACGTTATATATGTATATATAACACAC AC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126713	AACACACA others(21): Show AACACACACGTTATATATGTATATAGAAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02647.hp1 others(5): Show HG02280.hp2 HG02451.hp2 HG02647.hp1 HG02717.hp2 HG03041.hp1 HG03130.hp1 NA18906.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0047 a0001c0001t0128 a0002c0002t0006 others(4): Show a0001c0001t0047 a0001c0001t0128 a0002c0002t0006 a0002c0002t0019 a0002c0002t0026 a0002c0002t0032 a0002c0002t0092	a0001c0001t0047g0124 a0001c0001t0128g0154 a0002c0002t0006g0014 others(5): Show a0001c0001t0047g0124 a0001c0001t0128g0154 a0002c0002t0006g0014 a0002c0002t0019g0102 a0002c0002t0026g0136 a0002c0002t0026g0159 a0002c0002t0032g0002 a0002c0002t0092g0078	8	180	0.0444	-28	c.542 others(47): Show c.542-16575_542-16548delACGTTATATATGTATATAGAACACAC AC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA4_chr7_132118340_132581470	132282610	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp2 HG02647.hp2 others(3): Show HG01346.hp1 HG01496.hp2 HG02647.hp2 HG02809.hp2 HG03139.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0025 a0002c0036	a0001c0001t0014 a0001c0002t0024 a0001c0006t0005 others(3): Show a0001c0001t0014 a0001c0002t0024 a0001c0006t0005 a0001c0006t0007 a0001c0025t0004 a0002c0036t0006	a0001c0001t0014g0044 a0001c0002t0024g0058 a0001c0006t0005g0061 others(3): Show a0001c0001t0014g0044 a0001c0002t0024g0058 a0001c0006t0005g0061 a0001c0006t0007g0085 a0001c0025t0004g0043 a0002c0036t0006g0031	6	88	0.0682	-28	c.150 others(49): Show c.1503+15453_1503+15480delTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	4/31			chr7	TogoVar
PMM1_chr22_41571900_41594840	41572363	CCCACCCA others(21): Show CCCACCCACCCACCCACCCACCCACCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 NA18973.hp2 NA18979.hp1 others(3): Show HG01258.hp2 NA18973.hp2 NA18979.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0018 a0001c0001t0001g0092 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0005g0074	6	330	0.0182	-28	c.49 others(39): Show c.4927_*4954delATGGGTGGGTGGGTGGGTGGGTGGGTGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4536		chr22	TogoVar
PMM1_chr22_41571900_41594840	41572367	CCCACCCA others(21): Show CCCACCCACCCACCCACCCACCCATCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	330	0.0030	-28	c.49 others(39): Show c.4923_*4950delATGGATGGGTGGGTGGGTGGGTGGGTGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4532		chr22	TogoVar
PMPCA_chr9_136405658_136428761	136427482	TACACCCA others(21): Show TACACCCAGCCCAAAATGTTACACACGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG01243.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0063 a0001c0001t0009g0087 a0001c0001t0001g0063 a0001c0001t0009g0087	2	390	0.0051	-28	c.42 others(39): Show c.4219_*4246delACACCCAGCCCAAAATGTTACACACGCC	PMPCA	ENSG00000165688.14	transcript	ENST00000371717.8	protein_coding		3722		chr9	TogoVar
PNCK_chrX_153664733_153678813	153677658	TGTGTATA others(21): Show TGTGTATATATATATAGTGTGTATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00741.hp2 HG01175.hp1 others(33): Show HG00544.hp2 HG00741.hp2 HG01175.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02683.hp2 HG02738.hp1 HG03195.hp1 HG03225.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 NA18943.hp1 NA18945.hp1 NA18969.hp2 NA18979.hp1 NA18979.hp2 NA18989.hp1 NA18997.hp2 NA18999.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0020 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0056 a0002c0002t0001g0059	36	276	0.1304	-28	c.-39 others(39): Show c.-3909_-3882delTATATATACACACTATATATATATACAC	PNCK	ENSG00000130822.16	transcript	ENST00000340888.8	protein_coding		3846		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153393943	TCTCTCTC others(21): Show TCTCTCTCTGCCACTCTCTCTCTCTCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0001 a0018c0030t0001	a0018c0030t0001g0086 a0018c0030t0001g0086	1	346	0.0029	-28	c.29 others(39): Show c.2935_*2962delGCAGAGAGAGAGAGAGTGGCAGAGAGAG	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		1695		chrX	TogoVar
PNPLA5_chr22_43874678_43897013	43896642	GTCCTTCT others(21): Show GTCCTTCTACGCCGCCCCCCCCCCCCGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0131 a0015c0021t0001g0131	1	438	0.0023	-28	c.-47 others(39): Show c.-4790_-4763delGTCGGGGGGGGGGGGCGGCGTAGAAGGA	PNPLA5	ENSG00000100341.13	transcript	ENST00000216177.9	protein_coding		4630		chr22	TogoVar
PNPLA8_chr7_108465417_108531135	108505300	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0022 a0001c0001t0017g0022	1	390	0.0026	-28	c.120 others(47): Show c.1207-2686_1207-2659delTATATATATATATATATATATATATA TA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPT1_chr2_55629061_55698844	55657856	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0062 a0001c0004t0007g0062	1	390	0.0026	-28	c.128 others(47): Show c.1285-1513_1285-1486delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	15/27			chr2	TogoVar
POC1B_chr12_89414718_89531047	89476735	TAGATAGA others(21): Show TAGATAGATAGATAGATAGATAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp1 others(51): Show HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG01081.hp2 HG01175.hp1 HG01928.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG03490.hp1 HG03579.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18945.hp2 NA18950.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0001t0001 a0001c0001t0002 a0001c0005t0002	a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0115 others(51): Show a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0288 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0048 a0001c0001t0002g0109 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0285 a0001c0005t0002g0140	54	370	0.1460	-28	c.453 others(45): Show c.453-4488_453-4461delGTCTATCTATCTATCTATCTATCTATCT	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	4/11			chr12	TogoVar
POLA1_chrX_24688918_25001986	24806053	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02258.hp1 others(2): Show HG01243.hp1 HG02257.hp1 HG02258.hp1 HG02717.hp1 HG03654.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0007 a0001c0001 a0001c0006 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0005c0007t0001	a0001c0001t0001g0194 a0001c0001t0002g0149 a0001c0001t0002g0151 others(2): Show a0001c0001t0001g0194 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0006t0001g0148 a0005c0007t0001g0123	5	197	0.0254	-28	c.296 others(47): Show c.2965-3816_2965-3789delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD4_chr11_67345772_67358546	67347627	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01261.hp2 others(4): Show HG00738.hp2 HG01167.hp1 HG01261.hp2 NA18954.hp2 NA18961.hp1 NA18973.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	314	0.0223	-28	c.43 others(39): Show c.4340_*4367delATATATATATATATATATATATTTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3144		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347629	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG03491.hp1 others(5): Show HG01081.hp2 HG01167.hp2 HG03491.hp1 NA18973.hp2 NA19055.hp1 NA19058.hp2 NA19068.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	314	0.0255	-28	c.43 others(39): Show c.4338_*4365delATATATATATATATATATATATATTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3142		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347631	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	-28	c.43 others(39): Show c.4336_*4363delATATATATATATATATATATATATATTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3140		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	-28	c.43 others(39): Show c.4334_*4361delATATATATATATATATATATATATATAT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3138		chr11	TogoVar
POLDIP3_chr22_42578721_42619883	42606644	TAAAAGGA others(21): Show TAAAAGGACAGAATCTCATTCTGCTGCTC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	360	0.0028	-28	c.60- others(43): Show c.60-3512_60-3485delGAGCAGCAGAATGAGATTCTGTCCTTTT	POLDIP3	ENSG00000100227.19	transcript	ENST00000252115.10	protein_coding	1/8			chr22	TogoVar
POLR1D_chr13_27616892_27628449	27619839	CAAATCTC others(21): Show CAAATCTCTCTCCCACCCTCTCCAGCCTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	438	0.0023	-28	c.-21 others(39): Show c.-2144_-2117delAAATCTCTCTCCCACCCTCTCCAGCCTA	POLR1D	ENSG00000186184.20	transcript	ENST00000302979.5	protein_coding		2052		chr13	TogoVar
POLR2G_chr11_62756580_62771710	62757073	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01891.hp1 others(7): Show HG01109.hp2 HG01884.hp1 HG01891.hp1 HG02257.hp2 HG02615.hp2 HG02886.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0008 a0001c0001t0002g0026 a0001c0001t0002g0042	10	368	0.0272	-28	c.-45 others(39): Show c.-4575_-4548delATATATATATATATATATATATATATAT	POLR2G	ENSG00000168002.12	transcript	ENST00000301788.12	protein_coding		4506		chr11	TogoVar
POLR2G_chr11_62756580_62771710	62757499	CTCCTTCC others(21): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01168.hp2 HG03704.hp2 others(1): Show HG00642.hp1 HG01168.hp2 HG03704.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	4	368	0.0109	-28	c.-41 others(39): Show c.-4149_-4122delTCCTTCCTTCCTTCCTTCCTTCCTTCCT	POLR2G	ENSG00000168002.12	transcript	ENST00000301788.12	protein_coding		4080		chr11	TogoVar
POLR3F_chr20_18462390_18489646	18486145	TATGTAAA others(21): Show TATGTAAATATAAATATATATATATGTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG02055.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0009 a0001c0010t0001 a0001c0002t0009 a0001c0010t0001	a0001c0002t0009g0133 a0001c0010t0001g0099 a0001c0002t0009g0133 a0001c0010t0001g0099	2	452	0.0044	-28	c.25 others(39): Show c.2588_*2615delATGTAAATATAAATATATATATATGTAA	POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding		1500		chr20	TogoVar
POLR3F_chr20_18462390_18489646	18486179	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA19001.hp2 NA19010.hp2 NA18949.hp1 NA19001.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0130 a0001c0002t0002g0008 a0001c0002t0002g0130	3	452	0.0066	-28	c.26 others(39): Show c.2622_*2649delATATATATATATATATATATATATATAT	POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding		1534		chr20	TogoVar
POPDC3_chr6_105152900_105185014	105181171	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTATATATATGTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	258	0.0039	-28	c.-16 others(39): Show c.-1618_-1591delTATACATATATATACACACACACACACA	POPDC3	ENSG00000132429.10	transcript	ENST00000254765.4	protein_coding		1158		chr6	TogoVar
POPDC3_chr6_105152900_105185014	105181179	GTGTGTGT others(21): Show GTGTGTGTATATATATGTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0052 a0002c0003t0005g0052	1	258	0.0039	-28	c.-16 others(39): Show c.-1626_-1599delTATATATATATACATATATATACACACA	POPDC3	ENSG00000132429.10	transcript	ENST00000254765.4	protein_coding		1166		chr6	TogoVar
POR_chr7_75910155_75991855	75988736	GGGAAGGC others(21): Show GGGAAGGCCAGGTGGGGGGCTGGAGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00735.hp1 others(21): Show HG00099.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG02148.hp1 HG03942.hp1 NA18967.hp2 NA19009.hp2 NA19058.hp1 NA19070.hp1 NA19084.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0004 a0001c0005 a0003c0010 others(1): Show a0001c0004 a0001c0005 a0003c0010 a0007c0019	a0001c0004t0001 a0001c0005t0001 a0003c0010t0001 others(1): Show a0001c0004t0001 a0001c0005t0001 a0003c0010t0001 a0007c0019t0001	a0001c0004t0001g0093 a0001c0004t0001g0109 a0001c0004t0001g0127 others(21): Show a0001c0004t0001g0093 a0001c0004t0001g0109 a0001c0004t0001g0127 a0001c0004t0001g0172 a0001c0004t0001g0178 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0190 a0001c0004t0001g0191 a0001c0004t0001g0198 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0217 a0001c0004t0001g0220 a0001c0004t0001g0221 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0251 a0001c0004t0001g0255 a0001c0004t0001g0273 a0001c0004t0001g0274 a0001c0005t0001g0062 a0003c0010t0001g0227 a0007c0019t0001g0139	24	278	0.0863	-28	c.22 others(39): Show c.2256_*2283delGGAAGGCCAGGTGGGGGGCTGGAGGGGA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1882		chr7	TogoVar
POR_chr7_75910155_75991855	75988737	GGAAGGCC others(21): Show GGAAGGCCAGGTGGGGGGCTGGAGGGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG04199.hp1 HG02630.hp1 HG04199.hp1	a0001 a0001	a0001c0006 a0001c0022 a0001c0006 a0001c0022	a0001c0006t0001 a0001c0022t0001 a0001c0006t0001 a0001c0022t0001	a0001c0006t0001g0110 a0001c0022t0001g0024 a0001c0006t0001g0110 a0001c0022t0001g0024	2	278	0.0072	-28	c.22 others(39): Show c.2257_*2284delGAAGGCCAGGTGGGGGGCTGGAGGGGAA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1883		chr7	TogoVar
POR_chr7_75910155_75991855	75988982	GGGGGGTG others(21): Show GGGGGGTGGAGGGGAAGGCCGGGTGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0167 a0002c0008t0003g0167	1	278	0.0036	-28	c.25 others(39): Show c.2502_*2529delGGGGGTGGAGGGGAAGGCCGGGTGGGGT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2128		chr7	TogoVar
POT1_chr7_124817386_124934825	124862896	AATGCTTC others(21): Show AATGCTTCAAAACTGTCCATGGTATGACT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	346	0.0029	-28	c.546 others(43): Show c.546+426_546+453delAGTCATACCATGGACAGTTTTGAAGCAT	POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding	8/18			chr7	TogoVar
POTEB2_chr15_20830372_20871314	20867925	CTCAAAAA others(21): Show CTCAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	4	0.2500	-28	c.-16 others(39): Show c.-1672_-1645delTTTTTTTTTTTTTTTTTTTTTTTTTTGA	POTEB2	ENSG00000230031.10	transcript	ENST00000454856.4	protein_coding		1612		chr15	TogoVar
POTEB3_chr15_21400401_21445499	21413530	ATATATAT others(21): Show ATATATATATATATATATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0007 a0009c0015t0007	a0009c0015t0007g0002 a0009c0015t0007g0002	1	54	0.0185	-28	c.141 others(47): Show c.1410-2557_1410-2530delCATACATATATATATATATATATATA TA	POTEB3	ENSG00000278522.5	transcript	ENST00000611217.5	protein_coding	9/10			chr15	TogoVar

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