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
PIK3CB_chr3_138647698_138839928	138693945	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	206	0.0049	-21	c.189 others(38): Show c.1892+820_1892+840delATATATATATATATATATATA	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	14/23			chr3	TogoVar
PIK3CB_chr3_138647698_138839928	138705169	AAAAACAA others(14): Show AAAAACAAAAAACAAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02615.hp1 HG02630.hp2 others(5): Show HG01255.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG03130.hp1 HG03225.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0003 a0001c0001t0006 a0001c0002t0003	a0001c0001t0006g0063 a0001c0001t0006g0065 a0001c0001t0006g0067 others(5): Show a0001c0001t0006g0063 a0001c0001t0006g0065 a0001c0001t0006g0067 a0001c0002t0003g0051 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0062	8	206	0.0388	-21	c.153 others(38): Show c.1531-697_1531-677delGTTTGTTTTGTTTTTTGTTTT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	11/23			chr3	TogoVar
PIK3CD_chr1_9646731_9734114	9702500	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG01099.hp2 others(36): Show HG00423.hp1 HG00558.hp1 HG01099.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01952.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp2 HG02155.hp2 HG03490.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18983.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19066.hp1 NA19070.hp2 NA19087.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0018 a0001c0001 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0006c0018t0002	a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0037 others(36): Show a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0219 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0119 a0001c0001t0002g0306 a0001c0001t0009g0164 a0001c0001t0009g0285 a0001c0001t0016g0198 a0006c0018t0002g0294	39	318	0.1226	-21	c.-32 others(38): Show c.-32-7907_-32-7887delTTTTTTTTTTTTTTTTTTTTT	PIK3CD	ENSG00000171608.18	transcript	ENST00000377346.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIK3R1_chr5_68210756_68306821	68223123	AATCATCA others(14): Show AATCATCATCATCATCATCATC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02896.hp1 others(1): Show HG02572.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0003 a0002c0004 a0001c0008 a0002c0003 a0002c0004	a0001c0008t0177 a0002c0003t0174 a0002c0004t0175 others(1): Show a0001c0008t0177 a0002c0003t0174 a0002c0004t0175 a0002c0004t0176	a0001c0008t0177g0297 a0002c0003t0174g0295 a0002c0004t0175g0296 others(1): Show a0001c0008t0177g0297 a0002c0003t0174g0295 a0002c0004t0175g0296 a0002c0004t0176g0298	4	308	0.0130	-21	c.-38 others(40): Show c.-386-3141_-386-3121delTCATCATCATCATCATCATCA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R4_chr3_130673934_130751829	130747251	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01496.hp2 HG01891.hp1 others(28): Show HG00609.hp1 HG01496.hp2 HG01891.hp1 HG02132.hp2 HG02615.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 NA18939.hp1 NA18947.hp2 NA18952.hp2 NA18983.hp2 NA18989.hp2 NA18994.hp2 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19080.hp2 NA19082.hp2 NA21309.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0008 a0006c0011 a0001c0001 a0003c0008 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 a0006c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(25): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0144 a0001c0001t0002g0199 a0001c0001t0002g0203 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0232 a0003c0008t0001g0046 a0006c0011t0001g0044	31	304	0.1020	-21	c.-10 others(31): Show c.-1001_-981delAAAAAAAAAAAAAAAAAAAAA	PIK3R4	ENSG00000196455.8	transcript	ENST00000356763.8	protein_coding		423		chr3	TogoVar
PIK3R6_chr17_8797722_8872674	8803499	CAGAGCTG others(14): Show CAGAGCTGTTATTGTAGGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02976.hp2 HG02647.hp1 HG02723.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0231 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0231	3	354	0.0085	-21	c.210 others(36): Show c.2109-91_2109-71delAGGCCCTACAATAACAGCTCT	PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	19/19			chr17	TogoVar
PIK3R6_chr17_8797722_8872674	8827741	GGGAGAGA others(14): Show GGGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG01978.hp2 others(3): Show HG00597.hp2 HG00639.hp1 HG01978.hp2 HG02717.hp2 HG03195.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0001g0233 a0001c0001t0001g0292 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0233 a0001c0001t0001g0292 a0001c0001t0002g0027 a0001c0001t0002g0143 a0001c0001t0002g0253	6	354	0.0170	-21	c.139 others(38): Show c.1392+350_1392+370delTCTCTCTCTCTCTCTCTCTCC	PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	12/19			chr17	TogoVar
PINX1_chr8_10759961_10844875	10787195	TACACATA others(14): Show TACACATATTTTATGCACACAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03098.hp1 HG03471.hp2 others(1): Show HG02818.hp1 HG03098.hp1 HG03471.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070	4	352	0.0114	-21	c.472 others(40): Show c.472-21300_472-21280delGTGTGTGCATAAAATATGTGT	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PIP4K2A_chr10_22529854_22719578	22627591	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02970.hp2 HG00642.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0194 a0001c0001t0026g0195 a0001c0001t0026g0194 a0001c0001t0026g0195	2	206	0.0097	-21	c.145 others(40): Show c.145-17895_145-17875delTTTTTTTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22646937	ACAAAACA others(14): Show ACAAAACAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0119 a0002c0003t0007g0119	1	206	0.0049	-21	c.145 others(40): Show c.145-37241_145-37221delGTTTTGTTTTGTTTTGTTTTG	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4P2_chr8_90988802_91045859	91040835	CGCTGCTG others(14): Show CGCTGCTGCCGCTGCAGCTGCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0317 a0001c0001t0014g0317	1	342	0.0029	-21	c.-10 others(29): Show c.-107_-87delAGCAGCTGCAGCGGCAGCAGC	PIP4P2	ENSG00000155099.8	transcript	ENST00000285419.8	protein_coding	1/7	87		chr8	TogoVar
PIP5K1A_chr1_151193552_151254531	151216900	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(185): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(177): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0002g0212 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0008g0316 a0001c0001t0008g0317 a0001c0001t0008g0318 a0001c0001t0009g0013 a0001c0001t0009g0227 a0001c0001t0010g0174 a0001c0001t0010g0177 a0001c0001t0011g0012 a0001c0001t0014g0242 a0001c0001t0015g0219 a0001c0001t0016g0218 a0001c0001t0019g0209 a0001c0001t0020g0223 a0001c0001t0021g0315 a0001c0003t0001g0002 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0154 a0001c0003t0001g0172 a0001c0003t0001g0176 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0285 a0001c0003t0001g0312 a0001c0005t0001g0200 a0001c0006t0001g0235	188	334	0.5629	-21	c.86- others(36): Show c.86-7335_86-7315delTTTTTTTTTTTTTTTTTTTTT	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIP5K1A_chr1_151193552_151254531	151229881	AGATCATC others(14): Show AGATCATCCTGGCTAACACGGT	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19083.hp1 NA19085.hp2 NA19064.hp1 NA19083.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0022 a0001c0002t0002g0040 a0001c0002t0002g0041	3	334	0.0090	-21	c.238 others(38): Show c.238-1787_238-1767delTCATCCTGGCTAACACGGTGA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIP5K1A_chr1_151193552_151254531	151253953	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0086	1	334	0.0030	-21	c.60 others(32): Show c.6089_*6109delAAAAAAAAAAAAAAAAAAAAA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding		4423		chr1	TogoVar
PIR_chrX_15379799_15498333	15414164	GTATTAGA others(14): Show GTATTAGAATGCCCTAGAAGCT	G G	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	272	0.0037	-21	c.566 others(38): Show c.566-6635_566-6615delAGCTTCTAGGGCATTCTAATA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	6/9			chrX	TogoVar
PISD_chr22_31613491_31667215	31637153	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	328	0.0031	-21	c.321 others(40): Show c.321+10927_321+10947delATATATATATTTTTTTTTTTT	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PISD_chr22_31613491_31667215	31637155	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19074.hp1 NA19005.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0239 a0001c0001t0003g0299 a0001c0001t0001g0239 a0001c0001t0003g0299	2	328	0.0061	-21	c.321 others(40): Show c.321+10925_321+10945delATATATATATATTTTTTTTTT	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PISD_chr22_31613491_31667215	31637159	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG02818.hp2 others(1): Show HG02717.hp1 HG02723.hp1 HG02818.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013	a0001c0001t0002g0071 a0001c0001t0005g0073 a0001c0001t0005g0111 others(1): Show a0001c0001t0002g0071 a0001c0001t0005g0073 a0001c0001t0005g0111 a0001c0001t0013g0092	4	328	0.0122	-21	c.321 others(40): Show c.321+10921_321+10941delATATATATATATATATTTTTT	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PISD_chr22_31613491_31667215	31637161	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	328	0.0031	-21	c.321 others(40): Show c.321+10919_321+10939delATATATATATATATATATTTT	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PITPNB_chr22_27846669_27924256	27885212	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02135.hp1 HG02055.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0226 a0001c0001t0001g0232	2	366	0.0055	-21	c.456 others(38): Show c.456+9322_456+9342delTTTTTTTTTTTTTTTTTTTTT	PITPNB	ENSG00000180957.19	transcript	ENST00000335272.10	protein_coding	7/11			chr22	TogoVar
PITPNC1_chr17_67372281_67702256	67495040	GTTTTTTT others(14): Show GTTTTTTTTTTTGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0215 a0001c0001t0041g0215	1	218	0.0046	-21	c.49- others(38): Show c.49-37750_49-37730delGTTTTTTTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599014	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	218	0.0046	-21	c.366 others(40): Show c.366+20759_366+20779delATATATATATATATATATATT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM2_chr12_122978480_123156090	122979814	CCCAGTGG others(14): Show CCCAGTGGACTCGGGTGGGCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	230	0.0044	-21	c.61 others(32): Show c.6192_*6212delTGGCCCACCCGAGTCCACTGG	PITPNM2	ENSG00000090975.14	transcript	ENST00000320201.10	protein_coding		3665		chr12	TogoVar
PITPNM3_chr17_6446263_6561555	6451852	TCCAGGGC others(14): Show TCCAGGGCACTTGGCACCCAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0088 a0002c0005t0088	a0002c0005t0088g0073 a0002c0005t0088g0073	1	218	0.0046	-21	c.34 others(32): Show c.3465_*3485delTTTGGGTGCCAAGTGCCCTGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	20/20	3465		chr17	TogoVar
PIWIL2_chr8_22270316_22362568	22296020	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	296	0.0034	-21	c.118 others(40): Show c.1181+5692_1181+5712delTTTTTTTTTTTTTTTTTTTTT	PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
PIWIL2_chr8_22270316_22362568	22296038	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0186 a0001c0001t0014g0186	1	296	0.0034	-21	c.118 others(40): Show c.1181+5695_1181+5715delTTTTTTTTTTTTTTTTTTGTT	PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
PIWIL4_chr11_94562368_94626421	94611529	GATTGATA others(14): Show GATTGATATAGTTTGTTCAAAT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0190 a0001c0003t0001g0190	1	384	0.0026	-21	c.194 others(40): Show c.1943+2859_1943+2879delTCAAATATTGATATAGTTTGT	PIWIL4	ENSG00000134627.12	transcript	ENST00000299001.11	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKD1L3_chr16_71924538_72005402	71945303	TATACACA others(14): Show TATACACACACACACACACATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0127 a0004c0005t0001g0127	1	308	0.0033	-21	c.371 others(40): Show c.3719-1154_3719-1134delTATGTGTGTGTGTGTGTGTAT	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71964309	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp1 HG02145.hp2 others(11): Show HG00738.hp2 HG01884.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02717.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03139.hp1 NA19057.hp2 NA21309.hp2	a0003 a0005 a0032 others(1): Show a0003 a0005 a0032 a0036	a0003c0004 a0003c0016 a0003c0074 others(3): Show a0003c0004 a0003c0016 a0003c0074 a0005c0003 a0032c0079 a0036c0076	a0003c0004t0001 a0003c0016t0001 a0003c0074t0001 others(3): Show a0003c0004t0001 a0003c0016t0001 a0003c0074t0001 a0005c0003t0001 a0032c0079t0001 a0036c0076t0001	a0003c0004t0001g0159 a0003c0004t0001g0192 a0003c0004t0001g0222 others(11): Show a0003c0004t0001g0159 a0003c0004t0001g0192 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0252 a0003c0016t0001g0049 a0003c0016t0001g0190 a0003c0016t0001g0242 a0003c0016t0001g0243 a0003c0016t0001g0244 a0003c0074t0001g0149 a0005c0003t0001g0165 a0032c0079t0001g0256 a0036c0076t0001g0245	14	308	0.0455	-21	c.246 others(38): Show c.2466-979_2466-959delAAAAAAAAAAAAAAAAAAAAA	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	15/29			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314993	AGGAAGGA others(14): Show AGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18522.hp1 HG02698.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0029 a0001c0002t0001g0019 a0001c0002t0001g0029	2	306	0.0065	-21	c.349 others(40): Show c.349+14197_349+14217delCTTCCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L2_chr5_137884457_137947747	137910231	CAATAATA others(14): Show CAATAATAATAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	336	0.0030	-21	c.132 others(40): Show c.1328+1309_1328+1329delTAATAATAATAATAATAATAA	PKD2L2	ENSG00000078795.17	transcript	ENST00000508883.6	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PKD2L2_chr5_137884457_137947747	137924434	TTCTATTC others(14): Show TTCTATTCTTCAAAAAGTGGAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(253): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0012 a0004c0006 others(2): Show a0001c0001 a0001c0012 a0004c0006 a0005c0008 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0012t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0012t0001 a0004c0006t0001 a0005c0008t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(228): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0003g0112 a0001c0012t0001g0023 a0004c0006t0001g0115 a0004c0006t0001g0130 a0005c0008t0001g0034 a0006c0009t0001g0190	256	336	0.7619	-21	c.155 others(38): Show c.1552-602_1552-582delATTCTTCAAAAAGTGGAATCT	PKD2L2	ENSG00000078795.17	transcript	ENST00000508883.6	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PKDREJ_chr22_46250663_46268343	46254085	AAAAAAAG others(14): Show AAAAAAAGAAAGAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	304	0.0033	-21	c.24 others(32): Show c.2455_*2475delCTTTTTTTTTCTTTCTTTTTT	PKDREJ	ENSG00000130943.7	transcript	ENST00000253255.7	protein_coding		1577		chr22	TogoVar
PKHD1L1_chr8_109357461_109542207	109414961	CATTATTA others(14): Show CATTATTATTATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG02970.hp1 others(3): Show HG01109.hp1 HG02257.hp2 HG02970.hp1 HG02976.hp2 HG03540.hp1 NA20129.hp1	a0017 a0027 a0050 others(2): Show a0017 a0027 a0050 a0056 a0067	a0017c0017 a0027c0029 a0050c0043 others(2): Show a0017c0017 a0027c0029 a0050c0043 a0056c0076 a0067c0041	a0017c0017t0004 a0027c0029t0023 a0050c0043t0030 others(2): Show a0017c0017t0004 a0027c0029t0023 a0050c0043t0030 a0056c0076t0022 a0067c0041t0022	a0017c0017t0004g0273 a0017c0017t0004g0274 a0027c0029t0023g0272 others(3): Show a0017c0017t0004g0273 a0017c0017t0004g0274 a0027c0029t0023g0272 a0050c0043t0030g0277 a0056c0076t0022g0106 a0067c0041t0022g0134	6	282	0.0213	-21	c.236 others(40): Show c.2360+1447_2360+1467delATTATTATTATTATTATTATT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	21/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1_chr6_51610299_52092613	51777679	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp2 HG00741.hp2 others(29): Show HG00423.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01175.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02155.hp2 HG02683.hp1 HG02698.hp1 HG03239.hp1 HG03669.hp2 HG03704.hp1 HG04184.hp1 HG04204.hp1 NA18747.hp2 NA18971.hp1 NA18988.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19054.hp1 NA19090.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0010 a0012 a0013 a0016 a0019 a0021 a0023 a0036 a0040	a0001c0002 a0001c0019 a0001c0032 others(20): Show a0001c0002 a0001c0019 a0001c0032 a0002c0004 a0002c0033 a0002c0080 a0002c0092 a0003c0007 a0003c0012 a0003c0015 a0003c0036 a0004c0014 a0004c0064 a0010c0026 a0010c0028 a0012c0027 a0013c0095 a0016c0090 a0019c0049 a0021c0045 a0023c0044 a0036c0074 a0040c0081	a0001c0002t0001 a0001c0019t0001 a0001c0032t0001 others(22): Show a0001c0002t0001 a0001c0019t0001 a0001c0032t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0010 a0002c0033t0002 a0002c0080t0002 a0002c0092t0004 a0003c0007t0001 a0003c0012t0001 a0003c0015t0001 a0003c0036t0001 a0004c0014t0004 a0004c0064t0003 a0010c0026t0001 a0010c0028t0001 a0012c0027t0002 a0013c0095t0014 a0016c0090t0001 a0019c0049t0001 a0021c0045t0001 a0023c0044t0001 a0036c0074t0003 a0040c0081t0001	a0001c0002t0001g0107 a0001c0002t0001g0113 a0001c0002t0001g0117 others(29): Show a0001c0002t0001g0107 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0019t0001g0097 a0001c0032t0001g0075 a0002c0004t0003g0085 a0002c0004t0003g0126 a0002c0004t0004g0115 a0002c0004t0010g0101 a0002c0033t0002g0017 a0002c0080t0002g0121 a0002c0092t0004g0002 a0003c0007t0001g0037 a0003c0007t0001g0043 a0003c0007t0001g0049 a0003c0012t0001g0025 a0003c0012t0001g0032 a0003c0015t0001g0039 a0003c0036t0001g0042 a0004c0014t0004g0024 a0004c0014t0004g0033 a0004c0064t0003g0053 a0010c0026t0001g0013 a0010c0028t0001g0009 a0012c0027t0002g0005 a0013c0095t0014g0122 a0016c0090t0001g0120 a0019c0049t0001g0035 a0021c0045t0001g0036 a0023c0044t0001g0044 a0036c0074t0003g0108 a0040c0081t0001g0124	32	134	0.2388	-21	c.844 others(40): Show c.8441-1779_8441-1759delTTTTTTTTTTTTTTTTTTTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	53/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	52013578	TATAAGCA others(14): Show TATAAGCATATATATATGCAAC	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0001 a0007c0003t0001	a0007c0003t0001g0011 a0007c0003t0001g0011	1	134	0.0075	-21	c.560 others(40): Show c.5601-3140_5601-3120delGTTGCATATATATATGCTTAT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	34/66			chr6	TogoVar
PKLR_chr1_155284293_155306438	155290989	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02630.hp2 others(4): Show HG01109.hp2 HG01884.hp1 HG02630.hp2 HG03471.hp1 HG03516.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 others(4): Show a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0202	7	311	0.0225	-21	c.161 others(38): Show c.1619-332_1619-312delATTATTATTATTATTATTATT	PKLR	ENSG00000143627.19	transcript	ENST00000342741.6	protein_coding	10/10			chr1	TogoVar
PKLR_chr1_155284293_155306438	155299023	TTTCTTTC others(14): Show TTTCTTTCTTTCTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	311	0.0032	-21	c.283 others(38): Show c.283+1054_283+1074delGAAAGAAAGAGAAAGAAAGAA	PKLR	ENSG00000143627.19	transcript	ENST00000342741.6	protein_coding	2/10			chr1	TogoVar
PKNOX1_chr21_42969562_43038931	43018475	CACACACA others(14): Show CACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00735.hp1 others(23): Show HG00099.hp2 HG00323.hp1 HG00735.hp1 HG01099.hp2 HG01261.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp1 HG02109.hp2 HG02132.hp2 HG02809.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 NA18940.hp1 NA18950.hp1 NA18951.hp1 NA19007.hp1 NA19030.hp1 NA19058.hp1 NA19067.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 others(4): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 a0001c0001t0027 a0001c0001t0033 a0002c0004t0005	a0001c0001t0005g0156 a0001c0001t0005g0159 a0001c0001t0005g0162 others(22): Show a0001c0001t0005g0156 a0001c0001t0005g0159 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0173 a0001c0001t0005g0257 a0001c0001t0006g0003 a0001c0001t0006g0174 a0001c0001t0006g0176 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0011g0262 a0001c0001t0020g0154 a0001c0001t0020g0165 a0001c0001t0027g0155 a0001c0001t0027g0170 a0001c0001t0033g0166 a0002c0004t0005g0158	26	362	0.0718	-21	c.720 others(36): Show c.720+246_720+266delACACACACACACACACACACA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	7/10			chr21	TogoVar
PKNOX1_chr21_42969562_43038931	43018477	CACACACA others(14): Show CACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp2 HG03942.hp1 others(2): Show HG00423.hp1 HG00733.hp2 HG03942.hp1 NA18963.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0157 a0001c0001t0005g0160 a0001c0001t0005g0161 others(2): Show a0001c0001t0005g0157 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0181 a0001c0001t0006g0177	5	362	0.0138	-21	c.720 others(36): Show c.720+248_720+268delACACACACACACACACACACA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	7/10			chr21	TogoVar
PKNOX2_chr11_125159751_125438389	125178576	AGGAAGGA others(14): Show AGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	222	0.0045	-21	c.-20 others(42): Show c.-201+13802_-201+13822delGAAGGAAGGAAGGAAGGAAGG	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401765	CCCCCGCC others(14): Show CCCCCGCCCCGCTCACCCCCGA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0006 a0001c0007t0001g0006	1	216	0.0046	-21	c.173 others(40): Show c.1737+1065_1737+1085delGCCCCGCTCACCCCCGACCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402639	CCCCGACC others(14): Show CCCCGACCCCGCTCACCCCCGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0005 a0001c0007t0001g0005	1	216	0.0046	-21	c.173 others(38): Show c.1738-435_1738-415delGACCCCGCTCACCCCCGACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA1A_chr3_119592885_119634811	119622146	GGAGGAAG others(14): Show GGAGGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0002 a0008c0014t0002	a0008c0014t0002g0233 a0008c0014t0002g0233	1	420	0.0024	-21	c.101 others(40): Show c.1012+2497_1012+2517delGGAAGAAGAAGAAGAAGAAGA	PLA1A	ENSG00000144837.9	transcript	ENST00000273371.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLA1A_chr3_119592885_119634811	119622190	AAGAAGAA others(14): Show AAGAAGAAGAAGAAGAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	420	0.0024	-21	c.101 others(40): Show c.1012+2542_1012+2562delAGAAGAAGAAGAAGAAGGAGA	PLA1A	ENSG00000144837.9	transcript	ENST00000273371.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLA2G12A_chr4_109704989_109735070	109720587	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0246 a0001c0002t0002g0246	1	412	0.0024	-21	c.209 others(38): Show c.209-1849_209-1829delATATTTTTTTTTTTTTTTTTT	PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding	1/3			chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109720591	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03834.hp1 HG03491.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0007 a0001c0001t0017	a0001c0001t0007g0071 a0001c0001t0017g0094 a0001c0001t0007g0071 a0001c0001t0017g0094	2	412	0.0049	-21	c.209 others(38): Show c.209-1853_209-1833delATATATATTTTTTTTTTTTTT	PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding	1/3			chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109720593	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0095 a0001c0001t0017g0095	1	412	0.0024	-21	c.209 others(38): Show c.209-1855_209-1835delATATATATATTTTTTTTTTTT	PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding	1/3			chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109720595	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0073 a0001c0001t0007g0073	1	412	0.0024	-21	c.209 others(38): Show c.209-1857_209-1837delATATATATATATTTTTTTTTT	PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding	1/3			chr4	TogoVar
PLA2G12A_chr4_109704989_109735070	109720599	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0139 a0001c0001t0042g0139	1	412	0.0024	-21	c.209 others(38): Show c.209-1861_209-1841delATATATATATATATATTTTTT	PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding	1/3			chr4	TogoVar

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