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
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18983.hp2 NA19011.hp1 HG02056.hp2 NA18983.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0256 a0001c0001t0001g0307 a0001c0001t0001g0187 a0001c0001t0001g0256 a0001c0001t0001g0307	3	346	0.0087	27	c.148 others(46): Show c.1489-4073_1489-4072insTTTTTTTTTTTTTTTTTTTTTTTTTT T	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PID1_chr2_229018973_229276287	229134231	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03492.hp2 HG03834.hp2 others(5): Show HG00438.hp2 HG03492.hp2 HG03834.hp2 HG04115.hp1 NA18966.hp2 NA18970.hp1 NA19077.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0007	a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0222 others(5): Show a0001c0001t0001g0056 a0001c0001t0001g0077 a0001c0001t0001g0222 a0001c0001t0002g0101 a0001c0001t0002g0188 a0001c0001t0002g0228 a0001c0001t0003g0079 a0001c0002t0007g0214	8	256	0.0313	27	c.177 others(46): Show c.177+21586_177+21587insAAAAAAAAAAAAAAAAAAAAAAAAAA A	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PIERCE2_chr15_55403495_55423798	55412585	G G	GCATGATT others(20): Show GCATGATTCTAACCACAAATTGTCTTGT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	416	0.0024	27	c.18+ others(42): Show c.18+3799_18+3800insCATGATTCTAACCACAAATTGTCTTGT	PIERCE2	ENSG00000261652.3	transcript	ENST00000569691.2	protein_coding	1/1			chr15	TogoVar
PIEZO1_chr16_88710338_88790220	88723990	G G	GAGAGCCA others(20): Show GAGAGCCAGCCTTCCATGCAGGGAGACT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	282	0.0036	27	c.423 others(42): Show c.4235-46_4235-20dupAGTCTCCCTGCATGGAAGGCTGGCTCT	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	30/50			chr16	TogoVar
PIGK_chr1_77083989_77224430	77171436	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0191 a0001c0001t0005g0191	1	366	0.0027	27	c.240 others(44): Show c.240-2068_240-2042dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10			chr1	TogoVar
PIGL_chr17_16212210_16331411	16311467	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01496.hp1 HG02809.hp2 others(5): Show HG00323.hp1 HG01496.hp1 HG02809.hp2 HG03486.hp2 HG03704.hp1 NA18995.hp1 NA18995.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0025 a0001c0001t0001g0119 a0001c0001t0001g0122 others(5): Show a0001c0001t0001g0025 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0131 a0001c0001t0003g0144	8	246	0.0325	27	c.427 others(44): Show c.427-2066_427-2065insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGN_chr18_62036164_62192056	62062882	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0091 a0002c0002t0004g0091	1	342	0.0029	27	c.267 others(46): Show c.2672+9764_2672+9790dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGZ_chr3_196941356_196973833	196948888	C C	CCCTTCCT others(20): Show CCCTTCCTTCCCTTCCCCTCCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 NA18906.hp1 HG02055.hp2 HG02486.hp2 NA18906.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0046 a0004c0009t0001g0311 a0004c0009t0001g0046 a0004c0009t0001g0311	3	424	0.0071	27	c.212 others(42): Show c.212-204_212-203insAGGGAGGGGAGGGGAAGGGAAGGAAGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2			chr3	TogoVar
PIGZ_chr3_196941356_196973833	196960764	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01981.hp1 HG00438.hp2 HG01981.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0003 a0002c0005t0001 a0002c0005t0003	a0002c0005t0001g0249 a0002c0005t0003g0127 a0002c0005t0001g0249 a0002c0005t0003g0127	2	424	0.0047	27	c.-1+ others(42): Show c.-1+7922_-1+7923insCTTTCTTTCTTTCTTTCTTTCTTTCTT	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	1/2			chr3	TogoVar
PIH1D1_chr19_49441298_49456814	49452302	C C	CAGATCTA others(20): Show CAGATCTAGACCCGCCAGGTCTAGATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	366	0.0027	27	c.-75 others(36): Show c.-755_-729dupAGATCTAGACCTGGCGGGTCTAGATCT	PIH1D1	ENSG00000104872.11	transcript	ENST00000262265.10	protein_coding		489		chr19	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	384	0.0026	27	c.18 others(36): Show c.185_*186insATATATATATTTTTTTTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	384	0.0026	27	c.18 others(36): Show c.185_*186insATATATATATATATTTTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	27	c.18 others(36): Show c.185_*186insATATATATATATATATTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 NA18961.hp2 NA18997.hp2 others(1): Show HG03540.hp2 NA18961.hp2 NA18997.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016	4	384	0.0104	27	c.18 others(36): Show c.185_*186insATATATATATATATATATTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA19240.hp1 NA18953.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0002 a0001c0001t0001g0010	2	384	0.0052	27	c.18 others(36): Show c.185_*186insATATATATATATATATATATATTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA19009.hp1 HG00408.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0099 a0001c0001t0001g0002 a0001c0001t0001g0099	2	384	0.0052	27	c.18 others(36): Show c.185_*186insATATATATATATATATATATATATTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02300.hp1 HG01192.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0001g0107 a0001c0001t0001g0123	2	384	0.0052	27	c.18 others(36): Show c.185_*186insATATATATATATATATATATATATATT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIK3C2G_chr12_18256518_18653416	18303139	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA19030.hp2 HG02683.hp2 NA19030.hp2	a0009 a0010 a0009 a0010	a0009c0045 a0010c0013 a0009c0045 a0010c0013	a0009c0045t0003 a0010c0013t0001 a0009c0045t0003 a0010c0013t0001	a0009c0045t0003g0076 a0010c0013t0001g0001 a0009c0045t0003g0076 a0010c0013t0001g0001	2	176	0.0114	27	c.103 others(46): Show c.1034+9126_1034+9127insCTTTCTTTCTTTCTTTCTTTCTTTCT T	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3R1_chr5_68210756_68306821	68276713	A A	ACATAAGG others(20): Show ACATAAGGTAAGGTTACCCAAAGACCTG	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0025 a0004c0014t0025	a0004c0014t0025g0101 a0004c0014t0025g0101	1	308	0.0033	27	c.502 others(44): Show c.502+2705_502+2731dupAGGTAAGGTTACCCAAAGACCTGCATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68306214	G G	GTATAACA others(20): Show GTATAACATTAAATACATTGAATGTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0167 a0001c0002t0167	a0001c0002t0167g0132 a0001c0002t0167g0132	1	308	0.0033	27	c.86 others(38): Show c.8613_*8614insTATAACATTAAATACATTGAATGTATT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding		4394		chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68306233	G G	GAATGTAT others(20): Show GAATGTATTTATAACACTAAATACATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0163 a0001c0008t0163	a0001c0008t0163g0210 a0001c0008t0163g0210	1	308	0.0033	27	c.86 others(38): Show c.8632_*8633insAATGTATTTATAACACTAAATACATTC	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding		4413		chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68306233	G G	GAATGTAT others(20): Show GAATGTATTTATAACATTAAATACATTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00673.hp1 others(57): Show HG00280.hp1 HG00323.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01993.hp1 HG02055.hp2 HG02155.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp2 NA18747.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18980.hp1 NA18992.hp2 NA18998.hp1 NA19001.hp1 NA19043.hp2 NA19059.hp2 NA19060.hp2 NA19068.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0013	a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 others(42): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0106 a0001c0001t0109 a0001c0001t0111 a0001c0001t0115 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0168 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0021 a0001c0002t0022 a0001c0002t0038 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0056 a0001c0002t0110 a0001c0002t0112 a0001c0002t0113 a0001c0002t0114 a0001c0002t0117 a0001c0002t0124 a0001c0002t0125 a0001c0002t0166 a0001c0002t0172 a0001c0007t0162 a0001c0013t0010 a0001c0013t0013	a0001c0001t0009g0045 a0001c0001t0009g0097 a0001c0001t0010g0018 others(56): Show a0001c0001t0009g0045 a0001c0001t0009g0097 a0001c0001t0010g0018 a0001c0001t0013g0100 a0001c0001t0013g0108 a0001c0001t0014g0289 a0001c0001t0021g0232 a0001c0001t0021g0233 a0001c0001t0022g0291 a0001c0001t0022g0292 a0001c0001t0039g0103 a0001c0001t0039g0104 a0001c0001t0041g0105 a0001c0001t0042g0073 a0001c0001t0043g0217 a0001c0001t0043g0294 a0001c0001t0052g0001 a0001c0001t0054g0020 a0001c0001t0055g0259 a0001c0001t0106g0022 a0001c0001t0109g0074 a0001c0001t0111g0025 a0001c0001t0115g0029 a0001c0001t0118g0274 a0001c0001t0119g0253 a0001c0001t0120g0015 a0001c0001t0121g0069 a0001c0001t0168g0030 a0001c0002t0009g0127 a0001c0002t0009g0185 a0001c0002t0009g0187 a0001c0002t0010g0151 a0001c0002t0010g0182 a0001c0002t0010g0202 a0001c0002t0013g0159 a0001c0002t0014g0181 a0001c0002t0014g0216 a0001c0002t0014g0221 a0001c0002t0021g0243 a0001c0002t0022g0180 a0001c0002t0038g0059 a0001c0002t0038g0162 a0001c0002t0040g0158 a0001c0002t0040g0186 a0001c0002t0041g0173 a0001c0002t0042g0124 a0001c0002t0056g0228 a0001c0002t0110g0247 a0001c0002t0112g0157 a0001c0002t0113g0208 a0001c0002t0114g0141 a0001c0002t0117g0204 a0001c0002t0124g0174 a0001c0002t0125g0227 a0001c0002t0166g0231 a0001c0002t0172g0203 a0001c0007t0162g0044 a0001c0013t0010g0288 a0001c0013t0013g0287	60	308	0.1948	27	c.86 others(38): Show c.8632_*8633insAATGTATTTATAACATTAAATACATTC	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding		4413		chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68306260	C C	CAATGTAT others(20): Show CAATGTATTTATAACATTAAATACATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0033 a0001c0005t0012g0033	1	308	0.0033	27	c.86 others(38): Show c.8659_*8660insAATGTATTTATAACATTAAATACATTG	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding		4440		chr5	TogoVar
PIMREG_chr17_6439455_6456469	6455018	C C	CGACTTTG others(20): Show CGACTTTGCCCAAACGCTTCAGCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	312	0.0032	27	c.46 others(38): Show c.4671_*4672insGACTTTGCCCAAACGCTTCAGCCCCGG	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		3550		chr17	TogoVar
PIP5K1A_chr1_151193552_151254531	151251260	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	334	0.0030	27	c.33 others(38): Show c.3395_*3396insAAAAAAAAAAAAAAAAAAAAAAAAAAA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding		1730		chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68925795	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02129.hp1 HG02615.hp2 others(3): Show HG02027.hp2 HG02129.hp1 HG02615.hp2 HG03098.hp2 NA18939.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0067 a0001c0001t0002g0096 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0067 a0001c0001t0002g0096 a0001c0001t0002g0198 a0001c0001t0003g0148 a0001c0002t0001g0071	6	220	0.0273	27	c.120 others(46): Show c.1201+2429_1201+2430insTTTTTTTTTTTTTTTTTTTTTTTTTT T	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PITPNC1_chr17_67372281_67702256	67522659	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01361.hp2 HG02109.hp1 others(4): Show HG00741.hp2 HG01361.hp2 HG02109.hp1 HG02486.hp1 HG02622.hp2 HG02970.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 a0001c0001t0028 a0001c0001t0038 a0001c0001t0049 a0001c0001t0073	a0001c0001t0001g0195 a0001c0001t0008g0168 a0001c0001t0018g0049 others(4): Show a0001c0001t0001g0195 a0001c0001t0008g0168 a0001c0001t0018g0049 a0001c0001t0028g0070 a0001c0001t0038g0216 a0001c0001t0049g0170 a0001c0001t0073g0067	7	218	0.0321	27	c.49- others(44): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599034	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0096 a0001c0001t0055g0096	1	218	0.0046	27	c.366 others(46): Show c.366+20778_366+20779insATATATATATATATATATATATATAT T	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599035	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01517.hp1 NA18983.hp1 others(1): Show HG00099.hp2 HG01517.hp1 NA18983.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012	a0001c0001t0002g0207 a0001c0001t0004g0099 a0001c0001t0010g0135 others(1): Show a0001c0001t0002g0207 a0001c0001t0004g0099 a0001c0001t0010g0135 a0001c0001t0012g0205	4	218	0.0184	27	c.366 others(46): Show c.366+20778_366+20779insATATATATATATATATATATATATAT A	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631641	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0196 a0001c0001t0025g0196	1	218	0.0046	27	c.367 others(42): Show c.367-502_367-501insTATATATATATATATATATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631647	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03017.hp2 NA20752.hp1 HG00735.hp2 HG03017.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0050 a0001c0001t0001 a0001c0001t0036 a0001c0001t0050	a0001c0001t0001g0183 a0001c0001t0036g0151 a0001c0001t0050g0202 a0001c0001t0001g0183 a0001c0001t0036g0151 a0001c0001t0050g0202	3	218	0.0138	27	c.367 others(42): Show c.367-496_367-495insTATATATATATATATATATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631651	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0179 a0001c0001t0008g0179	1	218	0.0046	27	c.367 others(42): Show c.367-492_367-491insTATATATATATATATATATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631653	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0182 a0001c0001t0005g0182	1	218	0.0046	27	c.367 others(42): Show c.367-490_367-489insTATATATATATATATATATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG01257.hp1 others(3): Show HG00642.hp1 HG01167.hp2 HG01257.hp1 HG01993.hp2 HG02970.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0027 a0001c0001t0057	a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0002g0106 others(3): Show a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0002g0106 a0001c0001t0014g0034 a0001c0001t0027g0025 a0001c0001t0057g0111	6	218	0.0275	27	c.683 others(44): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAAAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITRM1_chr10_3132728_3177782	3174583	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00597.hp2 others(30): Show HG00280.hp2 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00738.hp2 HG01069.hp2 HG01934.hp1 HG01975.hp1 HG02083.hp2 HG02273.hp2 HG02602.hp2 HG02735.hp1 HG02896.hp1 HG03579.hp2 HG04199.hp1 NA18747.hp2 NA18946.hp2 NA18947.hp2 NA18957.hp2 NA18959.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19058.hp2 NA19062.hp1 NA19076.hp1 NA19087.hp2 NA19090.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0029	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0001c0029t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0076 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0246 a0001c0002t0001g0255 a0001c0002t0001g0262 a0001c0002t0001g0267 a0001c0002t0001g0274 a0001c0002t0001g0277 a0001c0002t0001g0281 a0001c0005t0002g0289 a0001c0005t0002g0294 a0001c0029t0001g0032	33	446	0.0740	27	c.-18 others(38): Show c.-1812_-1811insAAAAAAAAAAAAAAAAAAAAAAAAAAA	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding		1802		chr10	TogoVar
PITX3_chr10_102225189_102246512	102242928	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	410	0.0024	27	c.-16 others(38): Show c.-1609_-1608insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PITX3	ENSG00000107859.11	transcript	ENST00000370002.8	protein_coding		1417		chr10	TogoVar
PIWIL3_chr22_24714034_24779720	24760780	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03654.hp1 HG01099.hp1 HG03654.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0001 a0006c0009t0001 a0002c0002t0001 a0006c0009t0001	a0002c0002t0001g0233 a0006c0009t0001g0355 a0002c0002t0001g0233 a0006c0009t0001g0355	2	386	0.0052	27	c.103 others(42): Show c.103-792_103-791insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	2/20			chr22	TogoVar
PJA2_chr5_109329722_109414974	109340621	T T	TCTCCCTC others(20): Show TCTCCCTCTCCCCCTCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	346	0.0029	27	c.200 others(46): Show c.2002-3266_2002-3265insGAGGGGGAGGGGGAGGGGGAGAGGGA G	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109340621	T T	TCTCCCTC others(20): Show TCTCCCTCTCCCTCTCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0200 a0005c0009t0001g0200	1	346	0.0029	27	c.200 others(46): Show c.2002-3266_2002-3265insGAGGGGGAGGGGGAGAGGGAGAGGGA G	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109340667	C C	CCCTCCCC others(20): Show CCCTCCCCCTCCCCCTCCCCCTCTCCCT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0330 a0001c0007t0001g0330	1	346	0.0029	27	c.200 others(46): Show c.2002-3312_2002-3311insAGGGAGAGGGGGAGGGGGAGGGGGAG G	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109372905	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02135.hp2 NA18939.hp1 others(1): Show HG02040.hp1 HG02135.hp2 NA18939.hp1 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0013 a0002c0002t0001 a0002c0002t0013	a0002c0002t0001g0024 a0002c0002t0001g0028 a0002c0002t0001g0293 others(1): Show a0002c0002t0001g0024 a0002c0002t0001g0028 a0002c0002t0001g0293 a0002c0002t0013g0025	4	346	0.0116	27	c.128 others(46): Show c.1284-4160_1284-4159insTTTTTTTTTTTTTTTTTTTTTTTTTT T	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9			chr5	TogoVar
PKD1_chr16_2083708_2140898	2104927	A A	AGGGGAGG others(20): Show AGGGGAGGAGGGGAAGGGCTAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0026 a0026	a0026c0069 a0026c0069	a0026c0069t0010 a0026c0069t0010	a0026c0069t0010g0139 a0026c0069t0010g0139	1	216	0.0046	27	c.801 others(44): Show c.8017-286_8017-285insCCTCCCCTAGCCCTTCCCCTCCTCCCC	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	21/45			chr16	TogoVar
PKD1_chr16_2083708_2140898	2126395	C C	CAGGGCTG others(20): Show CAGGGCTGGGCCTCGGGAGCTGCAGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0005 a0008c0025t0005	a0008c0025t0005g0077 a0008c0025t0005g0077	1	216	0.0046	27	c.216 others(44): Show c.216-7044_216-7018dupTCCCTGCAGCTCCCGAGGCCCAGCCCT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	1/45			chr16	TogoVar
PKD1_chr16_2083708_2140898	2128090	G G	GAGGGAGG others(20): Show GAGGGAGGGAGAGGTGGGAGGGGCTGGC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19003.hp1 NA18990.hp1 NA19003.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0072 a0001c0011t0001g0153 a0001c0011t0001g0072 a0001c0011t0001g0153	2	216	0.0093	27	c.215 others(44): Show c.215+7358_215+7384dupGCCAGCCCCTCCCACCTCTCCCTCCCT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	1/45			chr16	TogoVar
PKHD1_chr6_51610299_52092613	51702145	T T	TTATTATA others(20): Show TTATTATATATTATATATATTATATGTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03486.hp2 HG02055.hp1 HG03486.hp2	a0002 a0004 a0002 a0004	a0002c0005 a0004c0006 a0002c0005 a0004c0006	a0002c0005t0002 a0004c0006t0002 a0002c0005t0002 a0004c0006t0002	a0002c0005t0002g0021 a0004c0006t0002g0048 a0002c0005t0002g0021 a0004c0006t0002g0048	2	134	0.0149	27	c.101 others(50): Show c.10157-42203_10157-42177dupTACATATAATATATATAATATA TAATA	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	60/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51783399	T T	TATTTATT others(20): Show TATTTATTTTATATTATTTAAATAATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp2 HG00741.hp2 others(63): Show HG00423.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02155.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03516.hp1 HG03669.hp2 HG03704.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18964.hp2 NA18971.hp1 NA18975.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19054.hp1 NA19054.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0012 a0013 a0016 a0019 a0021 a0023 a0024 a0027 a0032 a0036 a0040 a0042 a0044	a0001c0001 a0001c0002 a0001c0009 others(41): Show a0001c0001 a0001c0002 a0001c0009 a0001c0019 a0001c0022 a0001c0032 a0001c0034 a0001c0061 a0001c0083 a0001c0094 a0002c0004 a0002c0005 a0002c0033 a0002c0080 a0002c0092 a0003c0007 a0003c0012 a0003c0015 a0003c0036 a0003c0041 a0004c0008 a0004c0014 a0004c0043 a0004c0064 a0005c0037 a0006c0078 a0007c0003 a0010c0026 a0010c0028 a0010c0030 a0012c0027 a0012c0029 a0013c0095 a0016c0090 a0019c0049 a0021c0045 a0023c0044 a0024c0068 a0027c0069 a0032c0058 a0036c0074 a0040c0081 a0042c0035 a0044c0075	a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 others(45): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 a0001c0009t0001 a0001c0019t0001 a0001c0022t0001 a0001c0032t0001 a0001c0034t0001 a0001c0061t0001 a0001c0083t0001 a0001c0094t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0010 a0002c0005t0002 a0002c0005t0004 a0002c0033t0002 a0002c0080t0002 a0002c0092t0004 a0003c0007t0001 a0003c0012t0001 a0003c0015t0001 a0003c0036t0001 a0003c0041t0001 a0004c0008t0011 a0004c0014t0004 a0004c0043t0015 a0004c0064t0003 a0005c0037t0001 a0006c0078t0005 a0007c0003t0001 a0010c0026t0001 a0010c0028t0001 a0010c0030t0001 a0012c0027t0002 a0012c0029t0002 a0013c0095t0014 a0016c0090t0001 a0019c0049t0001 a0021c0045t0001 a0023c0044t0001 a0024c0068t0001 a0027c0069t0018 a0032c0058t0001 a0036c0074t0003 a0040c0081t0001 a0042c0035t0006 a0044c0075t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0058 others(63): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0002t0001g0107 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0002t0009g0099 a0001c0002t0009g0100 a0001c0009t0001g0106 a0001c0009t0001g0123 a0001c0019t0001g0097 a0001c0022t0001g0129 a0001c0032t0001g0075 a0001c0034t0001g0016 a0001c0061t0001g0064 a0001c0083t0001g0125 a0001c0094t0001g0131 a0002c0004t0003g0085 a0002c0004t0003g0126 a0002c0004t0004g0115 a0002c0004t0010g0101 a0002c0005t0002g0018 a0002c0005t0004g0076 a0002c0033t0002g0017 a0002c0080t0002g0121 a0002c0092t0004g0002 a0003c0007t0001g0037 a0003c0007t0001g0043 a0003c0007t0001g0049 a0003c0012t0001g0025 a0003c0012t0001g0032 a0003c0015t0001g0039 a0003c0015t0001g0041 a0003c0036t0001g0042 a0003c0041t0001g0046 a0004c0008t0011g0026 a0004c0014t0004g0024 a0004c0014t0004g0033 a0004c0043t0015g0057 a0004c0064t0003g0053 a0005c0037t0001g0038 a0006c0078t0005g0104 a0007c0003t0001g0006 a0007c0003t0001g0008 a0007c0003t0001g0011 a0007c0003t0001g0012 a0010c0026t0001g0013 a0010c0028t0001g0009 a0010c0030t0001g0007 a0012c0027t0002g0005 a0012c0029t0002g0010 a0013c0095t0014g0122 a0016c0090t0001g0120 a0019c0049t0001g0035 a0021c0045t0001g0036 a0023c0044t0001g0044 a0024c0068t0001g0091 a0027c0069t0018g0092 a0032c0058t0001g0070 a0036c0074t0003g0108 a0040c0081t0001g0124 a0042c0035t0006g0059 a0044c0075t0001g0119	66	134	0.4925	27	c.844 others(46): Show c.8441-7479_8441-7478insGTATTATTTAAATAATATAAAATAAA T	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	53/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02896.hp1 HG02015.hp1 HG02896.hp1	a0004 a0031 a0004 a0031	a0004c0014 a0031c0057 a0004c0014 a0031c0057	a0004c0014t0004 a0031c0057t0013 a0004c0014t0004 a0031c0057t0013	a0004c0014t0004g0033 a0031c0057t0013g0067 a0004c0014t0004g0033 a0031c0057t0013g0067	2	134	0.0149	27	c.590 others(46): Show c.5908+9649_5908+9650insATATATATATATATATATATATATTT T	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51976944	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0045 a0045	a0045c0084 a0045c0084	a0045c0084t0006 a0045c0084t0006	a0045c0084t0006g0087 a0045c0084t0006g0087	1	134	0.0075	27	c.575 others(48): Show c.5752-16919_5752-16918insTTTTTTTTTTTTTTTTTTTTTTTT TTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKLR_chr1_155284293_155306438	155297378	T T	TCCTTATG others(20): Show TCCTTATGGCAAAAACCTCAGAGTCACC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0215 a0001c0001t0008g0215	1	311	0.0032	27	c.284 others(44): Show c.284-1649_284-1623dupGGTGACTCTGAGGTTTTTGCCATAAGG	PKLR	ENSG00000143627.19	transcript	ENST00000342741.6	protein_coding	2/10			chr1	TogoVar
PKN3_chr9_128697503_128725916	128717117	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	360	0.0028	27	c.198 others(44): Show c.1985+220_1985+221insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PKN3	ENSG00000160447.7	transcript	ENST00000291906.5	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr9	TogoVar

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