Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(11): Show TATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01934.hp2 others(7): Show HG00735.hp1 HG01167.hp2 HG01934.hp2 HG02083.hp1 HG02293.hp1 HG02717.hp2 HG03017.hp2 NA18952.hp2 NA19001.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000	10	462	0.0217	18	c.-28 others(29): Show c.-2870_-2869insGTGTGTATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(11): Show TATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	462	0.0022	18	c.-28 others(29): Show c.-2870_-2869insGTATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1_chrX_107623510_107656026	107623571	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01106.hp1 others(15): Show HG00639.hp1 HG01074.hp1 HG01106.hp1 HG01891.hp1 HG01943.hp1 HG02083.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03225.hp1 HG03540.hp2 HG03834.hp1 NA18967.hp1 NA18988.hp1 NA18990.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0081 a0001c0001t0001g0110 a0001c0001t0001g0144 a0001c0001t0002g0011	18	245	0.0735	18	c.-50 others(29): Show c.-5058_-5057insTCTTTCTTTCTTTCTTTC	PRPS1	ENSG00000147224.13	transcript	ENST00000372435.10	protein_coding		4938		chrX	TogoVar
PRPS2_chrX_12786412_12829222	12801221	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00639.hp1 others(32): Show HG00408.hp2 HG00423.hp1 HG00639.hp1 HG00741.hp2 HG01257.hp2 HG01993.hp1 HG02015.hp1 HG02071.hp1 HG02109.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02738.hp1 HG02970.hp2 HG02976.hp2 HG03486.hp1 HG03492.hp1 HG03831.hp2 HG03927.hp2 HG04199.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18967.hp1 NA18969.hp1 NA18981.hp1 NA18983.hp1 NA18999.hp1 NA19007.hp1 NA19057.hp2 NA19064.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0016	a0001c0001t0001g0070 a0001c0001t0001g0197 a0001c0001t0001g0201 others(31): Show a0001c0001t0001g0070 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0244 a0001c0002t0001g0246 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0002g0225 a0001c0002t0002g0238 a0001c0002t0005g0245 a0001c0002t0006g0247 a0001c0002t0009g0010 a0001c0002t0009g0248 a0001c0002t0016g0249	35	334	0.1048	18	c.306 others(35): Show c.306+1846_306+1863dupGTGTGTGTGTGTGTGTGT	PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRPS2_chrX_12786412_12829222	12808288	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0295 a0001c0002t0001g0295	1	334	0.0030	18	c.307 others(33): Show c.307-936_307-919dupGTGTGTGTGTGTGTGTGT	PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRPS2_chrX_12786412_12829222	12826648	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 NA18940.hp1 NA18943.hp1 others(10): Show HG02647.hp1 NA18940.hp1 NA18943.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18969.hp1 NA18991.hp2 NA19057.hp2 NA19066.hp1 NA19072.hp1 NA19085.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0002t0001g0256 a0001c0002t0001g0283 a0001c0002t0001g0300	13	334	0.0389	18	c.38 others(29): Show c.3852_*3853insAAAAAAAAAAAAAAAAAA	PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding		2427		chrX	TogoVar
PRPSAP1_chr17_76304478_76358916	76347484	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18979.hp2 NA19066.hp1 NA18957.hp2 NA18979.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020	a0001c0001t0002g0213 a0001c0001t0003g0214 a0001c0001t0020g0212 a0001c0001t0002g0213 a0001c0001t0003g0214 a0001c0001t0020g0212	3	366	0.0082	18	c.223 others(35): Show c.223+1027_223+1044dupTTTTTTTTTTTTTTTTTT	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	2/9			chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18858098	T T	TCCCGCCC others(11): Show TCCCGCCCCCCGCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	392	0.0026	18	c.-29 others(27): Show c.-292_-291insCCCGCCCCCCGCCCCGCC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding		32		chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18858098	T T	TCCCGCCC others(11): Show TCCCGCCCCCGCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	392	0.0026	18	c.-29 others(27): Show c.-292_-291insCCCGCCCCCGCCCCGCCC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding		32		chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18869836	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18984.hp1 NA19240.hp2 HG02738.hp1 NA18984.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0125 a0001c0002t0002g0172 a0001c0002t0002g0058 a0001c0002t0002g0125 a0001c0002t0002g0172	3	392	0.0077	18	c.172 others(35): Show c.172+2503_172+2504insGTGTGTGTGTGTGTGTGT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18869865	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp2 HG02293.hp1 others(1): Show HG01123.hp2 HG01168.hp2 HG02293.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 others(1): Show a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0023	4	392	0.0102	18	c.172 others(35): Show c.172+2532_172+2533insTGTGTGTGTGTGTGTGAG	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18892727	G G	GTGTGTGT others(11): Show GTGTGTGTGTTTATTTATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp2 HG01257.hp2 others(11): Show HG00733.hp2 HG01099.hp2 HG01257.hp2 HG03490.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp2 NA18979.hp2 NA18984.hp1 NA19005.hp2 NA19007.hp1 NA19056.hp2 NA19080.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0049 a0001c0002t0002g0052 others(11): Show a0001c0002t0002g0036 a0001c0002t0002g0049 a0001c0002t0002g0052 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0065 a0001c0002t0002g0072 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0102 a0001c0002t0002g0109 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117	14	392	0.0357	18	c.584 others(35): Show c.584+2851_584+2852insGTGTGTGTTTATTTATTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18897450	G G	GTGTTGTT others(11): Show GTGTTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02145.hp2 others(9): Show HG01109.hp1 HG01891.hp2 HG02145.hp2 HG02559.hp2 HG02615.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG06807.hp1 NA18955.hp1 NA19011.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0156 a0001c0002t0002g0053 a0001c0002t0002g0064 others(9): Show a0001c0001t0002g0156 a0001c0002t0002g0053 a0001c0002t0002g0064 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0169 a0001c0002t0002g0172 a0001c0002t0002g0173	12	392	0.0306	18	c.584 others(35): Show c.584+7575_584+7576insTTGTTGTTGTTGTTGTTG	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18897453	G G	GTGTTGTT others(11): Show GTGTTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02572.hp1 HG01433.hp2 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0164 a0001c0002t0002g0160 a0001c0002t0002g0164	2	392	0.0051	18	c.584 others(35): Show c.584+7584_584+7601dupGTTGTTGTTGTTGTTGTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18914249	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0140 a0001c0002t0004g0140	1	392	0.0026	18	c.733 others(35): Show c.733+3007_733+3024dupTTTTTTTTTTTTTTTTTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18929358	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0359 a0001c0002t0007g0359	1	392	0.0026	18	c.951 others(33): Show c.951+417_951+434dupAATAATAATAATAATAAT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18935502	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0390 a0001c0001t0001g0390	1	392	0.0026	18	c.48 others(29): Show c.4804_*4805insATATATATATATATATAT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding		4216		chr17	TogoVar
PRR12_chr19_49586182_49631439	49607361	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03831.hp2 HG03710.hp1 HG03831.hp2	a0002 a0010 a0002 a0010	a0002c0004 a0010c0032 a0002c0004 a0010c0032	a0002c0004t0004 a0010c0032t0004 a0002c0004t0004 a0010c0032t0004	a0002c0004t0004g0040 a0010c0032t0004g0046 a0002c0004t0004g0040 a0010c0032t0004g0046	2	322	0.0062	18	c.477 others(37): Show c.4773+5444_4773+5445insGCGCACACACACACACAC	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR13_chr12_53436734_53451638	53447466	G G	GAAACCTC others(11): Show GAAACCTCGTCTCTACTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	388	0.0026	18	c.14 others(29): Show c.1407_*1408insAAACCTCGTCTCTACTAA	PRR13	ENSG00000205352.11	transcript	ENST00000429243.7	protein_coding		829		chr12	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0004 a0010c0011t0004	a0010c0011t0004g0088 a0010c0011t0004g0088	1	316	0.0032	18	c.79 others(29): Show c.7922_*7923insATATATATATTTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0189 a0002c0002t0008g0189	1	316	0.0032	18	c.79 others(29): Show c.7922_*7923insATATATATATATTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAATATA others(11): Show AAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0071 a0002c0002t0003g0071	1	316	0.0032	18	c.79 others(29): Show c.7922_*7923insATATATATATATATATTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR16_chr5_120459300_120692314	120575318	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03017.hp2 HG03540.hp2 HG01496.hp2 HG03017.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0048 a0001c0001t0001g0151 a0002c0002t0001g0101 a0001c0001t0001g0048 a0001c0001t0001g0151 a0002c0002t0001g0101	3	170	0.0177	18	c.160 others(39): Show c.160-110617_160-110600dupACACACACACACACACAC	PRR16	ENSG00000184838.15	transcript	ENST00000407149.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRR16_chr5_120459300_120692314	120646048	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02965.hp1 NA20129.hp2 HG00323.hp1 HG02965.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0114 a0001c0001t0001g0157 a0001c0001t0001g0018 a0001c0001t0001g0114 a0001c0001t0001g0157	3	170	0.0177	18	c.160 others(37): Show c.160-39896_160-39879dupATATATATATATATATAT	PRR16	ENSG00000184838.15	transcript	ENST00000407149.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRR20D_chr13_57155632_57168653	57166006	G G	GCCCCGCC others(11): Show GCCCCGCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	146	0.0069	18	c.33 others(29): Show c.3301_*3302insCCCCGCCCCCCCCCCCCC	PRR20D	ENSG00000227151.4	transcript	ENST00000452123.3	protein_coding		2354		chr13	TogoVar
PRR23A_chr3_138998962_139011268	139010701	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03486.hp1 HG03927.hp2 others(5): Show HG02109.hp1 HG03486.hp1 HG03927.hp2 NA18940.hp2 NA18966.hp2 NA19000.hp2 NA19056.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	8	384	0.0208	18	c.-44 others(29): Show c.-4451_-4434dupAAAAAAAAAAAAAAAAAA	PRR23A	ENSG00000206260.4	transcript	ENST00000383163.4	protein_coding		4434		chr3	TogoVar
PRR23C_chr3_139037102_139049892	139047999	G G	GATATAGA others(11): Show GATATAGAGATATAGATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	426	0.0024	18	c.-33 others(29): Show c.-3380_-3379insATATCTATATCTCTATAT	PRR23C	ENSG00000233701.3	transcript	ENST00000413199.1	protein_coding		3108		chr3	TogoVar
PRR23C_chr3_139037102_139049892	139047999	G G	GATATAGA others(11): Show GATATAGAGATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA18943.hp1 NA18964.hp1 others(3): Show HG02074.hp1 NA18943.hp1 NA18964.hp1 NA18970.hp2 NA19005.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	426	0.0141	18	c.-33 others(29): Show c.-3380_-3379insATATATATATCTCTATAT	PRR23C	ENSG00000233701.3	transcript	ENST00000413199.1	protein_coding		3108		chr3	TogoVar
PRR23E_chr3_127188131_127203185	127189874	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 NA19003.hp2 HG01255.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	2	456	0.0044	18	c.-34 others(29): Show c.-3497_-3496insTATATATATATATATATA	PRR23E	ENSG00000214324.5	transcript	ENST00000624688.2	protein_coding		3256		chr3	TogoVar
PRR23E_chr3_127188131_127203185	127189876	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	456	0.0022	18	c.-34 others(29): Show c.-3495_-3494insTATATATATATATATATA	PRR23E	ENSG00000214324.5	transcript	ENST00000624688.2	protein_coding		3254		chr3	TogoVar
PRR23E_chr3_127188131_127203185	127201395	A A	AACACAGA others(11): Show AACACAGATAGACAGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	456	0.0022	18	c.39 others(29): Show c.3981_*3982insACACAGATAGACAGCCCT	PRR23E	ENSG00000214324.5	transcript	ENST00000624688.2	protein_coding		3211		chr3	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	444	0.0023	18	c.649 others(35): Show c.649-1142_649-1141insCTCTCTCTCTCTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG04184.hp2 NA18969.hp1 others(2): Show HG01258.hp2 HG04184.hp2 NA18969.hp1 NA19001.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0068 a0001c0001t0001 a0001c0001t0017 a0001c0001t0068	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0017g0039 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0017g0039 a0001c0001t0068g0123	5	444	0.0113	18	c.649 others(35): Show c.649-1142_649-1141insCTCTCTCTCTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(11): Show CTCTCTCTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02071.hp1 HG03486.hp1 others(15): Show HG00423.hp2 HG02071.hp1 HG03486.hp1 NA18747.hp2 NA18945.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18964.hp1 NA18973.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19081.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0005 a0001c0001 a0008c0005	a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 a0001c0001t0020 a0001c0001t0067 a0008c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0041 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0077 a0001c0001t0001g0128 a0001c0001t0001g0144 a0001c0001t0011g0143 a0001c0001t0017g0107 a0001c0001t0020g0142 a0001c0001t0067g0141 a0008c0005t0001g0041	18	444	0.0405	18	c.649 others(35): Show c.649-1142_649-1141insCTCTCTCTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(11): Show CTCTCTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01167.hp2 HG02080.hp1 others(4): Show HG00544.hp2 HG01167.hp2 HG02080.hp1 NA18998.hp2 NA19058.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0001t0001 a0001c0001t0003 a0001c0001t0023	a0001c0001t0001g0087 a0001c0001t0001g0150 a0001c0001t0001g0151 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0023g0112	7	444	0.0158	18	c.649 others(35): Show c.649-1142_649-1141insCTCTCTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTGT others(11): Show CTCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp1 HG01255.hp2 others(3): Show HG01123.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG03942.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0031 a0001c0001t0001g0163 a0001c0001t0001g0164 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0003g0118 a0001c0001t0008g0117	6	444	0.0135	18	c.649 others(35): Show c.649-1142_649-1141insCTCTGTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0120 a0001c0001t0008g0120	1	444	0.0023	18	c.649 others(35): Show c.649-1142_649-1141insCTGTGTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0200 a0001c0001t0029g0200	1	444	0.0023	18	c.649 others(35): Show c.649-1129_649-1112dupGTGTGTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70161156	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02004.hp1 NA18961.hp1 others(2): Show HG01167.hp2 HG02004.hp1 NA18961.hp1 NA18984.hp1 NA19001.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0068 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0068 a0009c0009t0001	a0001c0001t0001g0152 a0001c0001t0005g0245 a0001c0001t0068g0123 others(1): Show a0001c0001t0001g0152 a0001c0001t0005g0245 a0001c0001t0068g0123 a0009c0009t0001g0046	5	444	0.0113	18	c.649 others(33): Show c.649-423_649-406dupTATATATATATATATATA	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR36_chr19_7863719_7879390	7878618	A A	ATATATAT others(11): Show ATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	386	0.0026	18	c.-43 others(29): Show c.-4341_-4340insAAAATATATATATATATA	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding		4229		chr19	TogoVar
PRR36_chr19_7863719_7879390	7878618	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	386	0.0026	18	c.-43 others(29): Show c.-4341_-4340insAAAAAAAATATATATATA	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding		4229		chr19	TogoVar
PRR36_chr19_7863719_7879390	7879145	C C	CAGCTGGG others(11): Show CAGCTGGGCCCCTTTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	386	0.0026	18	c.-48 others(29): Show c.-4868_-4867insAGAGAAAGGGGCCCAGCT	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding		4756		chr19	TogoVar
PRR5L_chr11_36291288_36470204	36351274	A A	ATATATTT others(11): Show ATATATTTATATATATTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	272	0.0037	18	c.-12 others(39): Show c.-125-49718_-125-49717insTTATATATATTTTTATAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5L_chr11_36291288_36470204	36420834	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18991.hp2 NA18948.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0153 a0001c0001t0003g0236 a0001c0001t0001g0153 a0001c0001t0003g0236	2	272	0.0074	18	c.294 others(35): Show c.294+1558_294+1575dupACACACACACACACACAC	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5_chr22_44697204_44742681	44740483	C C	CGTGTGTG others(11): Show CGTGTGTGGGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0209 a0002c0003t0002g0209	1	442	0.0023	18	c.32 others(29): Show c.3236_*3237insGTGTGTGGGTGTGTGTGT	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding		2803		chr22	TogoVar
PRR5_chr22_44697204_44742681	44740588	G G	GTGTGTGT others(11): Show GTGTGTGTATGTGTGTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(47): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00673.hp1 HG01099.hp1 HG02015.hp2 HG02056.hp1 HG02135.hp2 HG02145.hp1 HG02280.hp2 HG02523.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 NA18942.hp2 NA18943.hp2 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18989.hp2 NA18997.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19063.hp2 NA19074.hp1 NA19082.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19240.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0010 a0002c0003 a0004c0010	a0002c0003t0002 a0002c0003t0003 a0002c0003t0021 others(1): Show a0002c0003t0002 a0002c0003t0003 a0002c0003t0021 a0004c0010t0002	a0002c0003t0002g0002 a0002c0003t0002g0064 a0002c0003t0002g0093 others(46): Show a0002c0003t0002g0002 a0002c0003t0002g0064 a0002c0003t0002g0093 a0002c0003t0002g0094 a0002c0003t0002g0100 a0002c0003t0002g0117 a0002c0003t0002g0119 a0002c0003t0002g0120 a0002c0003t0002g0121 a0002c0003t0002g0123 a0002c0003t0002g0125 a0002c0003t0002g0136 a0002c0003t0002g0145 a0002c0003t0002g0148 a0002c0003t0002g0149 a0002c0003t0002g0150 a0002c0003t0002g0154 a0002c0003t0002g0155 a0002c0003t0002g0156 a0002c0003t0002g0171 a0002c0003t0002g0209 a0002c0003t0002g0255 a0002c0003t0002g0256 a0002c0003t0002g0257 a0002c0003t0002g0259 a0002c0003t0002g0286 a0002c0003t0002g0291 a0002c0003t0002g0298 a0002c0003t0002g0303 a0002c0003t0002g0306 a0002c0003t0002g0307 a0002c0003t0002g0311 a0002c0003t0002g0319 a0002c0003t0002g0321 a0002c0003t0002g0325 a0002c0003t0002g0327 a0002c0003t0002g0328 a0002c0003t0002g0333 a0002c0003t0002g0338 a0002c0003t0002g0351 a0002c0003t0002g0354 a0002c0003t0002g0362 a0002c0003t0002g0376 a0002c0003t0002g0384 a0002c0003t0002g0402 a0002c0003t0002g0417 a0002c0003t0003g0115 a0002c0003t0021g0048 a0004c0010t0002g0002	50	442	0.1131	18	c.33 others(29): Show c.3341_*3342insTGTGTGTATGTGTGTGCA	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding		2908		chr22	TogoVar
PRR5_chr22_44697204_44742681	44742345	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01928.hp2 HG01978.hp2 others(3): Show HG01346.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG03491.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0304 a0001c0001t0001g0390 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0304 a0001c0001t0001g0390 a0001c0001t0001g0392 a0001c0002t0001g0210	6	442	0.0136	18	c.50 others(29): Show c.5098_*5099insTTTTTTTTTTTTTTTTTT	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding		4665		chr22	TogoVar
PRRC2B_chr9_131389086_131505193	131420481	C C	CTTTCTTT others(11): Show CTTTCTTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0040 a0002c0026t0040	a0002c0026t0040g0178 a0002c0026t0040g0178	1	216	0.0046	18	c.-51 others(35): Show c.-51-9606_-51-9605insTCTTTCTTTCTTTTCTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp2 HG02647.hp2 HG02922.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0042 a0001c0001 a0014c0042	a0001c0001t0001 a0014c0042t0001 a0001c0001t0001 a0014c0042t0001	a0001c0001t0001g0004 a0014c0042t0001g0173 a0001c0001t0001g0004 a0014c0042t0001g0173	2	216	0.0093	18	c.-51 others(35): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131430561	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0205 a0005c0005t0002g0205	1	216	0.0046	18	c.115 others(33): Show c.115+320_115+337dupGTGTGTGTGTGTGTGTGT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr9	TogoVar

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