Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDIA6_chr2_10778391_10817785	10806628	C C	CAGACAGA others(29): Show CAGACAGACAGACAGACAGACAGACAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01192.hp2 HG01069.hp2 HG01071.hp1 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0022 a0001c0003t0008g0252 a0001c0003t0008g0022 a0001c0003t0008g0252	3	342	0.0088	36	c.20- others(51): Show c.20-3989_20-3988insTTCTTTCTTTCTGTCTGTCTGTCTGTCTGT CTGTCT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDK1_chr2_172551090_172613669	172605902	A A	ACTCCCCC others(29): Show ACTCCCCCTCCCCCAAACCTGATAGATGCTATAATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0024 a0001c0001t0109g0024	1	342	0.0029	36	c.99 others(47): Show c.9936_*9971dupCCCCCTCCCCCAAACCTGATAGATGCTATAATTT CT	PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding	11/11	9972	INFO_REALIGN_3_PRIME	chr2	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0061 a0002c0003t0003g0061	1	338	0.0030	36	c.533 others(53): Show c.533+6842_533+6877dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95257038	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	338	0.0030	36	c.533 others(53): Show c.533+6825_533+6826insATTTTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDS5A_chr4_39817863_39982911	39929519	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	356	0.0028	36	c.139 others(53): Show c.139-1391_139-1356dupTATATATATATATATATATATATATATA TATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0066 a0001c0001t0006g0066	1	334	0.0030	36	c.313 others(53): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG01070.hp2 others(37): Show HG00408.hp2 HG00639.hp2 HG01070.hp2 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01361.hp2 HG01952.hp1 HG01978.hp1 HG02071.hp2 HG02129.hp1 HG02132.hp1 HG02300.hp2 HG02976.hp2 HG03209.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp1 NA18948.hp2 NA18950.hp1 NA18960.hp2 NA18963.hp2 NA18974.hp2 NA18975.hp2 NA18982.hp1 NA18987.hp2 NA19010.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 others(35): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0002g0015	40	416	0.0962	36	c.-46 others(47): Show c.-4633_-4632insTATATATATATATATATATATATATATATATATA TA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	416	0.0024	36	c.-46 others(47): Show c.-4633_-4632insTTTATATATATATATATATATATATATATATATA TA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	416	0.0024	36	c.163 others(51): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	260	0.0039	36	c.296 others(55): Show c.296+29088_296+29089insATATATATATATATATATATATATTT TTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0014 a0033c0042t0014	a0033c0042t0014g0187 a0033c0042t0014g0187	1	216	0.0046	36	c.-36 others(57): Show c.-361+49917_-361+49918insATATATATATATATATATATATAT ATATTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	216	0.0046	36	c.-36 others(57): Show c.-361+49917_-361+49918insATATATATATATATATATATATAT ATTTTTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0012 a0003c0008t0012	a0003c0008t0012g0020 a0003c0008t0012g0020	1	216	0.0046	36	c.-36 others(57): Show c.-361+49917_-361+49918insATATATATATATATATATATATTT TTTTTTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0124 a0003c0004t0011g0124	1	216	0.0046	36	c.-36 others(57): Show c.-361+49917_-361+49918insATATATATATATATATATATTTTT TTTTTTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18944.hp2 NA18973.hp1 HG01168.hp1 NA18944.hp2 NA18973.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0034 a0002c0003t0005 a0003c0004t0004 a0001c0001t0034 a0002c0003t0005 a0003c0004t0004	a0001c0001t0034g0139 a0002c0003t0005g0028 a0003c0004t0004g0113 a0001c0001t0034g0139 a0002c0003t0005g0028 a0003c0004t0004g0113	3	216	0.0139	36	c.-36 others(57): Show c.-361+49917_-361+49918insATATATATATATATATATTTTTTT TTTTTTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PEAK1_chr15_77103158_77425104	77119050	G G	GAATTTAC others(29): Show GAATTTACTTATAAACTGTGCAGCAGGAGAACAAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00621.hp2 others(71): Show HG00280.hp2 HG00423.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01943.hp2 HG02055.hp2 HG02083.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18980.hp1 NA18985.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19011.hp2 NA19030.hp1 NA19060.hp1 NA19065.hp1 NA19084.hp1 NA19085.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0008 a0011	a0001c0001 a0003c0003 a0003c0008 others(3): Show a0001c0001 a0003c0003 a0003c0008 a0006c0007 a0008c0010 a0011c0019	a0001c0001t0023 a0001c0001t0024 a0001c0001t0040 others(16): Show a0001c0001t0023 a0001c0001t0024 a0001c0001t0040 a0001c0001t0046 a0003c0003t0002 a0003c0003t0006 a0003c0003t0014 a0003c0003t0017 a0003c0003t0022 a0003c0003t0025 a0003c0003t0038 a0003c0003t0039 a0003c0003t0042 a0003c0003t0043 a0003c0003t0047 a0003c0008t0002 a0006c0007t0010 a0008c0010t0017 a0011c0019t0002	a0001c0001t0023g0313 a0001c0001t0023g0316 a0001c0001t0024g0317 others(71): Show a0001c0001t0023g0313 a0001c0001t0023g0316 a0001c0001t0024g0317 a0001c0001t0040g0315 a0001c0001t0046g0314 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0117 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0139 a0003c0003t0002g0144 a0003c0003t0002g0147 a0003c0003t0002g0150 a0003c0003t0002g0151 a0003c0003t0002g0152 a0003c0003t0002g0153 a0003c0003t0002g0154 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0157 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0161 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0165 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0006g0115 a0003c0003t0006g0140 a0003c0003t0006g0143 a0003c0003t0006g0169 a0003c0003t0006g0170 a0003c0003t0006g0171 a0003c0003t0006g0172 a0003c0003t0006g0173 a0003c0003t0006g0174 a0003c0003t0006g0175 a0003c0003t0014g0004 a0003c0003t0014g0149 a0003c0003t0014g0166 a0003c0003t0014g0167 a0003c0003t0017g0118 a0003c0003t0022g0168 a0003c0003t0022g0177 a0003c0003t0025g0142 a0003c0003t0025g0146 a0003c0003t0038g0123 a0003c0003t0039g0116 a0003c0003t0042g0119 a0003c0003t0043g0176 a0003c0003t0047g0141 a0003c0008t0002g0134 a0003c0008t0002g0135 a0003c0008t0002g0164 a0006c0007t0010g0202 a0006c0007t0010g0253 a0008c0010t0017g0122 a0011c0019t0002g0003	74	326	0.2270	36	c.407 others(55): Show c.4078-3732_4078-3731insGTTTTGTTCTCCTGCTGCACAGTTTA TAAGTAAATT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	9/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77250145	A A	ATATATAT others(29): Show ATATATATATACATATATATACATATATATGTATATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02040.hp2 others(11): Show HG01243.hp2 HG01884.hp2 HG02040.hp2 HG02257.hp2 HG02451.hp2 HG02809.hp2 HG03540.hp1 HG03831.hp1 HG06807.hp1 NA19005.hp1 NA19030.hp2 NA19058.hp2 NA19062.hp2 NA20300.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0012	a0001c0001 a0001c0011 a0005c0006 others(2): Show a0001c0001 a0001c0011 a0005c0006 a0006c0007 a0012c0018	a0001c0001t0007 a0001c0001t0013 a0001c0001t0037 others(7): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0037 a0001c0001t0041 a0001c0001t0052 a0001c0001t0053 a0001c0011t0051 a0005c0006t0011 a0006c0007t0010 a0012c0018t0010	a0001c0001t0007g0205 a0001c0001t0007g0260 a0001c0001t0013g0016 others(11): Show a0001c0001t0007g0205 a0001c0001t0007g0260 a0001c0001t0013g0016 a0001c0001t0037g0262 a0001c0001t0041g0206 a0001c0001t0052g0312 a0001c0001t0053g0259 a0001c0011t0051g0318 a0005c0006t0011g0107 a0005c0006t0011g0108 a0005c0006t0011g0109 a0005c0006t0011g0256 a0006c0007t0010g0257 a0012c0018t0010g0255	14	326	0.0429	36	c.-11 others(55): Show c.-115+2186_-115+2221dupCATATACATATATATGTATATATATG TATATATATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77250160	T T	TATATACA others(29): Show TATATACATATATATGTATATGTATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02965.hp2 others(2): Show HG02055.hp2 HG02559.hp1 HG02965.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0040 others(1): Show a0001c0001t0023 a0001c0001t0024 a0001c0001t0040 a0001c0001t0046	a0001c0001t0023g0313 a0001c0001t0023g0316 a0001c0001t0024g0317 others(2): Show a0001c0001t0023g0313 a0001c0001t0023g0316 a0001c0001t0024g0317 a0001c0001t0040g0315 a0001c0001t0046g0314	5	326	0.0153	36	c.-11 others(55): Show c.-115+2206_-115+2207insGTATGTATATATATACATATACATAT ATATGTATAT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEBP4_chr8_22708251_22932914	22728559	T T	TCTTTCTT others(29): Show TCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA21309.hp1 HG00558.hp1 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0004 a0002c0002t0001 a0004c0004t0004	a0002c0002t0001g0079 a0004c0004t0004g0171 a0002c0002t0001g0079 a0004c0004t0004g0171	2	278	0.0072	36	c.358 others(53): Show c.358-1340_358-1339insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGAAAG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PECAM1_chr17_64314415_64395860	64377617	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(28): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00544.hp2 HG01099.hp2 HG01192.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01891.hp1 HG01943.hp2 HG02004.hp1 HG02148.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp1 NA18522.hp1 NA18747.hp2 NA19043.hp2 NA19065.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0039 a0003c0005t0004 a0003c0005t0030	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0114 others(28): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0114 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0182 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0002g0168 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0251 a0001c0001t0020g0156 a0001c0001t0027g0213 a0001c0001t0033g0157 a0001c0001t0034g0220 a0001c0001t0035g0031 a0001c0001t0039g0250 a0003c0005t0004g0159 a0003c0005t0030g0136	31	288	0.1076	36	c.385 others(51): Show c.385+206_385+207insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	3/15			chr17	TogoVar
PELI1_chr2_64087652_64149420	64147515	A A	ATAATTTT others(29): Show ATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	304	0.0033	36	c.-35 others(47): Show c.-3505_-3504insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT TA	PELI1	ENSG00000197329.12	transcript	ENST00000358912.5	protein_coding		3096		chr2	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01496.hp1 HG03516.hp2 others(3): Show HG01255.hp2 HG01496.hp1 HG03516.hp2 HG04228.hp2 NA18999.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0018 a0001c0001t0022 others(2): Show a0001c0001t0004 a0001c0001t0018 a0001c0001t0022 a0002c0002t0005 a0002c0002t0073	a0001c0001t0004g0043 a0001c0001t0004g0138 a0001c0001t0018g0017 others(3): Show a0001c0001t0004g0043 a0001c0001t0004g0138 a0001c0001t0018g0017 a0001c0001t0022g0034 a0002c0002t0005g0156 a0002c0002t0073g0155	6	430	0.0140	36	c.57 others(47): Show c.5727_*5728insATATATATATATATATATATATATATATATATAT AT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PEX10_chr1_2398974_2417564	2401381	C C	CTCCTCCC others(29): Show CTCCTCCCTCCTTCCTCCCTCCCTCCTCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	358	0.0028	36	c.43 others(47): Show c.4384_*4385insAGGAGGGAGGAGGAGGGAGGGAGGAAGGAGGGAG GA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2592		chr1	TogoVar
PEX11B_chr1_145906350_145923717	145909455	T T	TATAATTA others(29): Show TATAATTATGTTATATATTATATGTATATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	36	c.26 others(47): Show c.2670_*2705dupTATATATAATATACATATAATATATAACATAATT AT	PEX11B	ENSG00000131779.11	transcript	ENST00000369306.8	protein_coding		1894		chr1	TogoVar
PEX11B_chr1_145906350_145923717	145909535	T T	TATAATTA others(29): Show TATAATTATGTTATATATTATATGTATATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02717.hp2 others(2): Show HG02486.hp1 HG02559.hp1 HG02717.hp2 HG02922.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0053 a0001c0001t0001g0010 a0001c0001t0001g0053	5	368	0.0136	36	c.25 others(47): Show c.2590_*2625dupTATATATAATATACATATAATATATAACATAATT AT	PEX11B	ENSG00000131779.11	transcript	ENST00000369306.8	protein_coding		1814		chr1	TogoVar
PEX5L_chr3_179789958_180041937	180024347	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18979.hp1 HG03017.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0059 a0001c0001t0005 a0001c0001t0059	a0001c0001t0005g0078 a0001c0001t0059g0086 a0001c0001t0005g0078 a0001c0001t0059g0086	2	220	0.0091	36	c.21+ others(53): Show c.21+12231_21+12232insATATATATATATATATATATATATATAT ATATATAT	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	1/14			chr3	TogoVar
PFAS_chr17_8244289_8275486	8268049	A A	AATATATA others(29): Show AATATATATATATATATATATATGTATATTTTTAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	388	0.0026	36	c.338 others(53): Show c.3382+404_3382+405insATGTATATTTTTAAATATATATATATAT ATATATAT	PFAS	ENSG00000178921.14	transcript	ENST00000314666.11	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
PFKFB2_chr1_207048275_207082817	207060962	A A	ATATATAT others(29): Show ATATATATCTATATATCTATATATATATCTATATATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02615.hp1 others(13): Show HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006	a0001c0002t0002g0014 a0001c0002t0002g0248 a0001c0002t0005g0038 others(7): Show a0001c0002t0002g0014 a0001c0002t0002g0248 a0001c0002t0005g0038 a0001c0002t0005g0051 a0001c0002t0005g0053 a0001c0002t0005g0166 a0001c0002t0005g0167 a0001c0002t0005g0247 a0001c0002t0006g0009 a0001c0002t0006g0164	16	342	0.0468	36	c.86- others(49): Show c.86-968_86-967insATATCTATATATCTATATATCTATATATCTAT ATAT	PFKFB2	ENSG00000123836.15	transcript	ENST00000367080.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6206842	G G	GCAGCCAG others(29): Show GCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00597.hp1 others(51): Show HG00140.hp2 HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02698.hp2 HG02818.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 NA18747.hp1 NA18950.hp1 NA18950.hp2 NA18963.hp1 NA18968.hp2 NA18990.hp2 NA19000.hp1 NA19003.hp1 NA19079.hp1 NA19080.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0050 a0001c0001t0058 a0001c0001t0079 a0001c0001t0083 a0001c0002t0014 a0001c0002t0039 a0001c0002t0081 a0001c0003t0001 a0001c0003t0004 a0001c0004t0002	a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 others(46): Show a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0319 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0002g0339 a0001c0001t0002g0355 a0001c0001t0003g0002 a0001c0001t0004g0008 a0001c0001t0004g0012 a0001c0001t0004g0063 a0001c0001t0004g0072 a0001c0001t0004g0327 a0001c0001t0006g0320 a0001c0001t0007g0066 a0001c0001t0007g0351 a0001c0001t0007g0357 a0001c0001t0008g0062 a0001c0001t0008g0065 a0001c0001t0008g0353 a0001c0001t0009g0059 a0001c0001t0011g0373 a0001c0001t0012g0322 a0001c0001t0012g0323 a0001c0001t0015g0330 a0001c0001t0016g0060 a0001c0001t0018g0064 a0001c0001t0018g0317 a0001c0001t0022g0009 a0001c0001t0022g0258 a0001c0001t0022g0337 a0001c0001t0050g0341 a0001c0001t0058g0055 a0001c0001t0079g0356 a0001c0001t0083g0309 a0001c0002t0014g0350 a0001c0002t0039g0354 a0001c0002t0039g0358 a0001c0002t0081g0359 a0001c0003t0001g0003 a0001c0003t0001g0352 a0001c0003t0004g0069 a0001c0004t0002g0058	54	432	0.1250	36	c.76+ others(51): Show c.76+3506_76+3507insCAGCCAGGCAGAGGGGCTCCTCACATCCCA GACGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14			chr10	TogoVar
PFKP_chr10_3062548_3141802	3062688	C C	CATTCATT others(29): Show CATTCATTCACTCATTCATTCATTCACTCATTCACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0064 a0001c0004t0006g0064	1	402	0.0025	36	c.-49 others(47): Show c.-4908_-4907insATTCATTCACTCATTCATTCATTCACTCATTCAC TT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding		4859		chr10	TogoVar
PGA4_chr11_61217347_61236694	61220767	A A	AATCCTTT others(29): Show AATCCTTTAGCCAGACACAAAAGTTCTCCAAGTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02148.hp2 HG04204.hp2 HG02109.hp2 HG02148.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0022 a0001c0001t0001g0028	3	304	0.0099	36	c.-16 others(47): Show c.-1634_-1633insATCCTTTAGCCAGACACAAAAGTTCTCCAAGTCC CC	PGA4	ENSG00000229183.10	transcript	ENST00000378149.9	protein_coding		1579		chr11	TogoVar
PGA5_chr11_61236175_61256444	61239593	A A	AATCCTTT others(29): Show AATCCTTTAGCCAGACACAAAAGTTCTCCAAGTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG03130.hp2 HG01515.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0002 a0001c0001t0003 a0001c0005t0002	a0001c0001t0003g0053 a0001c0005t0002g0027 a0001c0001t0003g0053 a0001c0005t0002g0027	2	406	0.0049	36	c.-16 others(47): Show c.-1634_-1633insATCCTTTAGCCAGACACAAAAGTTCTCCAAGTCC CC	PGA5	ENSG00000256713.8	transcript	ENST00000312403.10	protein_coding		1581		chr11	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	376	0.0027	36	c.-35 others(47): Show c.-3543_-3542insATATATATATATATATATATATTTTTTTTTTTTT TT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	376	0.0027	36	c.-35 others(47): Show c.-3543_-3542insATATATATATATATATATATATATTTTTTTTTTT TT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	376	0.0027	36	c.-35 others(47): Show c.-3543_-3542insATATATATATATATATATATATATATTTTTTTTT TT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691934	C C	CATATACA others(29): Show CATATACATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0180 a0001c0003t0017g0180	1	376	0.0027	36	c.-39 others(47): Show c.-3921_-3920insATATATATATATATATATATATATATATATGTAT AT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3878		chr17	TogoVar
PGAP6_chr16_365788_386978	378181	C C	CCCACCCG others(29): Show CCCACCCGCACTGCCATCGCCACCCGCACTGCCATCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp2 HG01109.hp2 others(3): Show HG00099.hp1 HG01070.hp2 HG01109.hp2 HG01346.hp2 HG03017.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0021 a0002c0002t0003 a0002c0002t0021	a0002c0002t0003g0005 a0002c0002t0003g0170 a0002c0002t0021g0112 a0002c0002t0003g0005 a0002c0002t0003g0170 a0002c0002t0021g0112	6	376	0.0160	36	c.122 others(51): Show c.122-334_122-333insCGATGGCAGTGCGGGTGGCGATGGCAGTGC GGGTGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGAP6_chr16_365788_386978	378289	G G	GCCACCCT others(29): Show GCCACCCTGACTGCCATCGCCACCCGCACTGCCATCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01069.hp2 others(11): Show HG00323.hp2 HG00642.hp1 HG01069.hp2 HG01071.hp2 HG01891.hp1 HG01981.hp2 HG02080.hp2 HG02280.hp2 HG02486.hp1 HG02886.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1	a0002 a0004 a0002 a0004	a0002c0005 a0004c0006 a0002c0005 a0004c0006	a0002c0005t0001 a0002c0005t0006 a0002c0005t0013 others(4): Show a0002c0005t0001 a0002c0005t0006 a0002c0005t0013 a0002c0005t0014 a0002c0005t0017 a0004c0006t0001 a0004c0006t0008	a0002c0005t0001g0168 a0002c0005t0006g0049 a0002c0005t0006g0050 others(9): Show a0002c0005t0001g0168 a0002c0005t0006g0049 a0002c0005t0006g0050 a0002c0005t0006g0052 a0002c0005t0013g0024 a0002c0005t0014g0167 a0002c0005t0017g0051 a0004c0006t0001g0020 a0004c0006t0001g0161 a0004c0006t0001g0163 a0004c0006t0001g0165 a0004c0006t0008g0164	14	376	0.0372	36	c.122 others(51): Show c.122-442_122-441insGGATGGCAGTGCGGGTGGCGATGGCAGTCA GGGTGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGAP6_chr16_365788_386978	378307	G G	GCCACTCT others(29): Show GCCACTCTGACTGCCATCGCCACTCTGACTGCCATCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00673.hp1 others(50): Show HG00140.hp2 HG00621.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG01243.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG02027.hp1 HG02040.hp2 HG02109.hp2 HG02155.hp1 HG02280.hp1 HG02293.hp2 HG02572.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG03017.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18964.hp1 NA18966.hp2 NA18971.hp1 NA18998.hp1 NA19067.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2	a0002 a0003 a0008 others(2): Show a0002 a0003 a0008 a0010 a0011	a0002c0010 a0003c0003 a0003c0008 others(3): Show a0002c0010 a0003c0003 a0003c0008 a0008c0020 a0010c0015 a0011c0018	a0002c0010t0001 a0003c0003t0001 a0003c0003t0004 others(5): Show a0002c0010t0001 a0003c0003t0001 a0003c0003t0004 a0003c0003t0019 a0003c0008t0007 a0008c0020t0007 a0010c0015t0014 a0011c0018t0001	a0002c0010t0001g0036 a0003c0003t0001g0002 a0003c0003t0001g0034 others(19): Show a0002c0010t0001g0036 a0003c0003t0001g0002 a0003c0003t0001g0034 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0130 a0003c0003t0001g0145 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0153 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0004g0007 a0003c0003t0019g0152 a0003c0008t0007g0009 a0008c0020t0007g0154 a0010c0015t0014g0149 a0011c0018t0001g0131	53	376	0.1410	36	c.122 others(51): Show c.122-460_122-459insGGATGGCAGTCAGAGTGGCGATGGCAGTCA GAGTGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGAP6_chr16_365788_386978	378343	G G	GCTACCCG others(29): Show GCTACCCGCACTGCCATCGCCACTCTGACTGCCATCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0166 a0004c0006t0001g0166	1	376	0.0027	36	c.122 others(51): Show c.122-496_122-495insGGATGGCAGTCAGAGTGGCGATGGCAGTGC GGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGC_chr6_41731711_41752397	41738178	A A	ACATATAT others(29): Show ACATATATATATGCATATATATATGCATATATATATG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18972.hp1 NA18984.hp1 NA18955.hp1 NA18972.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0001g0058 a0001c0001t0001g0074	3	464	0.0065	36	c.916 others(51): Show c.916-386_916-351dupCATATATATATGCATATATATATGCATATA TATATG	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PGGHG_chr11_284126_301107	294518	G G	GGCTGTCC others(29): Show GGCTGTCCCTCACCCCCAGACTGCCCTCTCACCCCCA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	450	0.0022	36	c.202 others(51): Show c.2021-34_2021-33insTCCCTCACCCCCAGACTGCCCTCTCACCCC CAGCTG	PGGHG	ENSG00000142102.16	transcript	ENST00000409548.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0347 a0002c0002t0004g0347	1	380	0.0026	36	c.112 others(53): Show c.112-9243_112-9242insATATATATATATATATATATATATATAT ATATATAT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTTTCTT others(29): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0261 a0001c0001t0261	a0001c0001t0261g0306 a0001c0001t0261g0306	1	412	0.0024	36	c.53 others(45): Show c.531_*532insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	532	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTTTTCT others(29): Show GCTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp1 HG03710.hp2 HG02027.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0128 a0001c0001t0075 a0001c0001t0128	a0001c0001t0075g0267 a0001c0001t0128g0187 a0001c0001t0075g0267 a0001c0001t0128g0187	2	412	0.0049	36	c.50 others(45): Show c.504_*505insTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	505	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364103	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0182 a0001c0001t0134g0182	1	412	0.0024	36	c.53 others(45): Show c.531_*532insTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	532	INFO_REALIGN_3_PRIME	chr19	TogoVar
PHACTR1_chr6_12711767_13292837	13000614	G G	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	108	0.0093	36	c.251 others(55): Show c.251-52724_251-52723insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGG	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13003957	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0087 a0001c0002t0003g0087	1	108	0.0093	36	c.251 others(55): Show c.251-49401_251-49400insATATATATATATATATATATATATAT ATGTATATAT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13195757	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	108	0.0093	36	c.665 others(55): Show c.665-10035_665-10034insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTTT others(29): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	250	0.0040	36	c.118 others(55): Show c.118+30018_118+30019insCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar

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