Joint Open Genome and Omics Platform (JoGo)

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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
PASD1_chrX_151558675_151681739	151567045	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0172 a0001c0002t0002g0172	1	221	0.0045	-20	c.-28 others(37): Show c.-28+3238_-28+3257delTAAATAAATAAATAAATAAA	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653747	CTTCCTTC others(13): Show CTTCCTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 homoSapiens_chm13v2.hp1 HG01070.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0020 a0001c0002 a0007c0020	a0001c0002t0006 a0007c0020t0002 a0001c0002t0006 a0007c0020t0002	a0001c0002t0006g0122 a0007c0020t0002g0090 a0001c0002t0006g0122 a0007c0020t0002g0090	2	221	0.0091	-20	c.717 others(37): Show c.717+5049_717+5068delCTTCTTTCTTTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	221	0.0045	-20	c.717 others(37): Show c.717+5220_717+5239delCTTTCTTTCTTTCTTTCTTT	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PATJ_chr1_61737480_62168915	61796658	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0029 a0001c0022t0029	a0001c0022t0029g0111 a0001c0022t0029g0111	1	158	0.0063	-20	c.126 others(37): Show c.1261-581_1261-562delCTTTCTTTCTTTCTTTCTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	10/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61810699	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0056 a0056	a0056c0034 a0056c0034	a0056c0034t0005 a0056c0034t0005	a0056c0034t0005g0122 a0056c0034t0005g0122	1	158	0.0063	-20	c.168 others(39): Show c.1683+2197_1683+2216delTAAATAAATAAATAAATAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61812354	TAGAGAGA others(13): Show TAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02970.hp2 HG03209.hp1 HG01070.hp1 HG02970.hp2 HG03209.hp1	a0001 a0048 a0001 a0048	a0001c0001 a0001c0008 a0048c0086 a0001c0001 a0001c0008 a0048c0086	a0001c0001t0002 a0001c0008t0016 a0048c0086t0013 a0001c0001t0002 a0001c0008t0016 a0048c0086t0013	a0001c0001t0002g0076 a0001c0008t0016g0047 a0048c0086t0013g0013 a0001c0001t0002g0076 a0001c0008t0016g0047 a0048c0086t0013g0013	3	158	0.0190	-20	c.168 others(39): Show c.1683+3846_1683+3865delGAGAGAGAGAGAGAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61813334	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02615.hp1 others(7): Show HG01109.hp1 HG01884.hp1 HG02615.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02965.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp2	a0001 a0003 a0007 others(5): Show a0001 a0003 a0007 a0009 a0041 a0046 a0054 a0056	a0001c0026 a0001c0047 a0001c0059 others(7): Show a0001c0026 a0001c0047 a0001c0059 a0003c0003 a0007c0031 a0009c0054 a0041c0060 a0046c0035 a0054c0028 a0056c0034	a0001c0026t0001 a0001c0047t0035 a0001c0059t0009 others(7): Show a0001c0026t0001 a0001c0047t0035 a0001c0059t0009 a0003c0003t0017 a0007c0031t0015 a0009c0054t0004 a0041c0060t0001 a0046c0035t0022 a0054c0028t0002 a0056c0034t0005	a0001c0026t0001g0116 a0001c0047t0035g0126 a0001c0059t0009g0045 others(7): Show a0001c0026t0001g0116 a0001c0047t0035g0126 a0001c0059t0009g0045 a0003c0003t0017g0015 a0007c0031t0015g0119 a0009c0054t0004g0127 a0041c0060t0001g0128 a0046c0035t0022g0117 a0054c0028t0002g0118 a0056c0034t0005g0122	10	158	0.0633	-20	c.168 others(39): Show c.1683+4830_1683+4849delTATATATATATATATATATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61813362	TATATATA others(13): Show TATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0004 a0004	a0004c0057 a0004c0057	a0004c0057t0004 a0004c0057t0004	a0004c0057t0004g0096 a0004c0057t0004g0096	1	158	0.0063	-20	c.168 others(39): Show c.1683+4834_1683+4853delTATATATATATATATACACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61813366	TATATATA others(13): Show TATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03579.hp1 NA20129.hp2 HG00323.hp1 HG03579.hp1 NA20129.hp2	a0007 a0011 a0063 a0007 a0011 a0063	a0007c0006 a0011c0007 a0063c0067 a0007c0006 a0011c0007 a0063c0067	a0007c0006t0001 a0011c0007t0003 a0063c0067t0003 a0007c0006t0001 a0011c0007t0003 a0063c0067t0003	a0007c0006t0001g0044 a0011c0007t0003g0063 a0063c0067t0003g0110 a0007c0006t0001g0044 a0011c0007t0003g0063 a0063c0067t0003g0110	3	158	0.0190	-20	c.168 others(39): Show c.1683+4838_1683+4857delTATATATATATACACACACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62024657	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA20129.hp2 HG03654.hp1 NA20129.hp2	a0006 a0063 a0006 a0063	a0006c0119 a0063c0067 a0006c0119 a0063c0067	a0006c0119t0009 a0063c0067t0003 a0006c0119t0009 a0063c0067t0003	a0006c0119t0009g0154 a0063c0067t0003g0110 a0006c0119t0009g0154 a0063c0067t0003g0110	2	158	0.0127	-20	c.395 others(39): Show c.3959+6750_3959+6769delCACACACACACACACACACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62094558	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00642.hp2 others(18): Show HG00280.hp2 HG00323.hp2 HG00642.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01975.hp1 HG01978.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG03453.hp1 HG03453.hp2 HG03927.hp1 HG04115.hp1 NA18906.hp1 NA19030.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0016 a0017 a0021 a0029 a0030 a0035 a0042 a0043 a0054 a0060	a0001c0024 a0001c0104 a0002c0049 others(16): Show a0001c0024 a0001c0104 a0002c0049 a0002c0094 a0002c0106 a0003c0003 a0003c0099 a0004c0101 a0005c0122 a0016c0120 a0017c0018 a0021c0033 a0029c0078 a0030c0136 a0035c0081 a0042c0089 a0043c0133 a0054c0028 a0060c0103	a0001c0024t0001 a0001c0104t0014 a0002c0049t0004 others(17): Show a0001c0024t0001 a0001c0104t0014 a0002c0049t0004 a0002c0094t0002 a0002c0106t0012 a0003c0003t0004 a0003c0003t0017 a0003c0099t0006 a0004c0101t0017 a0005c0122t0002 a0016c0120t0012 a0017c0018t0004 a0021c0033t0006 a0029c0078t0004 a0030c0136t0013 a0035c0081t0031 a0042c0089t0004 a0043c0133t0014 a0054c0028t0002 a0060c0103t0020	a0001c0024t0001g0139 a0001c0104t0014g0114 a0002c0049t0004g0029 others(18): Show a0001c0024t0001g0139 a0001c0104t0014g0114 a0002c0049t0004g0029 a0002c0094t0002g0002 a0002c0106t0012g0104 a0003c0003t0004g0093 a0003c0003t0017g0015 a0003c0099t0006g0009 a0004c0101t0017g0098 a0005c0122t0002g0064 a0016c0120t0012g0061 a0017c0018t0004g0054 a0017c0018t0004g0062 a0021c0033t0006g0120 a0029c0078t0004g0070 a0030c0136t0013g0099 a0035c0081t0031g0040 a0042c0089t0004g0066 a0043c0133t0014g0101 a0054c0028t0002g0118 a0060c0103t0020g0074	21	158	0.1329	-20	c.437 others(39): Show c.4377+9942_4377+9961delCACACACACACACACACACA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59672310	CTATATAT others(13): Show CTATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	276	0.0036	-20	c.-34 others(31): Show c.-3435_-3416delTATATATATATATATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3274		chr11	TogoVar
PAWR_chr12_79579879_79695964	79632292	TATACATA others(13): Show TATACATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02257.hp1 HG02027.hp2 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0017 a0002c0002t0001 a0002c0002t0017	a0002c0002t0001g0191 a0002c0002t0017g0184 a0002c0002t0001g0191 a0002c0002t0017g0184	2	256	0.0078	-20	c.517 others(39): Show c.517-11105_517-11086delGTATGTATATATATATGTAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX1_chr20_21700664_21723481	21721352	GTATGTAT others(13): Show GTATGTATATATATATGTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00099.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0001 a0001c0001t0039g0001 a0001c0001t0001g0001 a0001c0001t0039g0001	2	400	0.0050	-20	c.67 others(31): Show c.6791_*6810delTATGTATATATATATGTATA	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		2872		chr20	TogoVar
PAX2_chr10_100740582_100834944	100742843	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0007 a0001c0002t0016g0007	1	232	0.0043	-20	c.-34 others(31): Show c.-3417_-3398delTTTTTTTTTTTTTTTTTTTT	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding		2738		chr10	TogoVar
PAX2_chr10_100740582_100834944	100805016	TCTCACAT others(13): Show TCTCACATACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01106.hp1 others(9): Show HG00280.hp1 HG00735.hp2 HG01106.hp1 HG01255.hp1 HG02015.hp1 NA18939.hp2 NA18947.hp1 NA18959.hp1 NA18980.hp1 NA18983.hp1 NA19004.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0007 a0001c0003t0003 a0001c0003t0007	a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0027 others(9): Show a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0027 a0001c0003t0003g0028 a0001c0003t0003g0050 a0001c0003t0003g0058 a0001c0003t0003g0061 a0001c0003t0003g0074 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0007g0127 a0001c0003t0007g0147	12	232	0.0517	-20	c.617 others(37): Show c.617-1412_617-1393delTCACATACACACACACACAC	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX2_chr10_100740582_100834944	100815273	GGGAGTCT others(13): Show GGGAGTCTCCTAGTCTTGTCT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01106.hp1 others(28): Show HG00280.hp1 HG00735.hp2 HG01106.hp1 HG01255.hp1 HG02015.hp1 HG02155.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG03098.hp2 HG03225.hp1 HG03654.hp2 HG03704.hp2 HG04204.hp2 NA18939.hp2 NA18944.hp1 NA18947.hp1 NA18959.hp1 NA18980.hp1 NA18983.hp1 NA18994.hp1 NA19004.hp2 NA19030.hp2 NA19043.hp2 NA19068.hp1 NA19080.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0003 a0001c0003t0006 a0001c0003t0007 others(3): Show a0001c0003t0003 a0001c0003t0006 a0001c0003t0007 a0001c0003t0020 a0001c0003t0045 a0004c0007t0007	a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0019 others(28): Show a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0019 a0001c0003t0003g0027 a0001c0003t0003g0028 a0001c0003t0003g0050 a0001c0003t0003g0058 a0001c0003t0003g0061 a0001c0003t0003g0067 a0001c0003t0003g0074 a0001c0003t0003g0076 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0120 a0001c0003t0003g0123 a0001c0003t0003g0134 a0001c0003t0003g0150 a0001c0003t0003g0170 a0001c0003t0006g0203 a0001c0003t0007g0098 a0001c0003t0007g0104 a0001c0003t0007g0127 a0001c0003t0007g0128 a0001c0003t0007g0131 a0001c0003t0007g0133 a0001c0003t0007g0147 a0001c0003t0007g0169 a0001c0003t0020g0217 a0001c0003t0020g0224 a0001c0003t0045g0097 a0004c0007t0007g0099	31	232	0.1336	-20	c.919 others(37): Show c.919+6039_919+6058delGAGTCTCCTAGTCTTGTCTG	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX3_chr2_222194887_222303998	222260571	TTTTTTTG others(13): Show TTTTTTTGTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp2 HG02922.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0095 a0001c0001t0006g0299 a0001c0001t0001g0095 a0001c0001t0006g0299	2	328	0.0061	-20	c.587 others(39): Show c.587-28308_587-28289delCAAAAAAAAAAAACAAAAAA	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX4_chr7_127605292_127623142	127612934	AGGATGGA others(13): Show AGGATGGATGGATGGATGGAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0026 a0009c0018t0026	a0009c0018t0026g0118 a0009c0018t0026g0118	1	428	0.0023	-20	c.715 others(33): Show c.715+68_715+87delATCCATCCATCCATCCATCC	PAX4	ENSG00000106331.19	transcript	ENST00000639438.3	protein_coding	9/11			chr7	TogoVar
PAX5_chr9_36828269_37039268	36870095	GATGGATG others(13): Show GATGGATGGATGGATGGATAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG03041.hp2 others(2): Show HG02615.hp1 HG02615.hp2 HG03041.hp2 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0036 a0001c0002t0004 a0001c0002t0009 others(2): Show a0001c0001t0036 a0001c0002t0004 a0001c0002t0009 a0001c0002t0061 a0001c0002t0107	a0001c0001t0036g0263 a0001c0002t0004g0203 a0001c0002t0009g0253 others(2): Show a0001c0001t0036g0263 a0001c0002t0004g0203 a0001c0002t0009g0253 a0001c0002t0061g0024 a0001c0002t0107g0219	5	274	0.0183	-20	c.101 others(41): Show c.1012+11889_1012+11908delTTATCCATCCATCCATCCAT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	8/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36929235	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00558.hp2 others(41): Show HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01074.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp2 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG02976.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp2 HG03654.hp1 HG03669.hp1 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18939.hp1 NA18945.hp2 NA18952.hp2 NA18960.hp1 NA18965.hp1 NA18966.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18990.hp1 NA19064.hp1 NA19074.hp2 NA19090.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0030 a0001c0001t0036 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0051 a0001c0001t0054 a0001c0001t0066 a0001c0001t0072 a0001c0001t0074 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0102 a0001c0001t0103 a0001c0001t0117 a0001c0001t0119 a0001c0001t0121 a0001c0002t0017 a0001c0002t0027 a0001c0002t0035 a0001c0002t0084 a0001c0002t0109 a0001c0002t0110 a0001c0004t0014 a0001c0006t0025 a0003c0007t0076	a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0107 others(41): Show a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0157 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0002g0084 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0228 a0001c0001t0003g0038 a0001c0001t0010g0035 a0001c0001t0013g0081 a0001c0001t0019g0083 a0001c0001t0030g0177 a0001c0001t0036g0266 a0001c0001t0041g0003 a0001c0001t0043g0005 a0001c0001t0047g0006 a0001c0001t0051g0017 a0001c0001t0054g0015 a0001c0001t0066g0055 a0001c0001t0072g0070 a0001c0001t0074g0051 a0001c0001t0090g0206 a0001c0001t0091g0168 a0001c0001t0092g0165 a0001c0001t0102g0167 a0001c0001t0103g0132 a0001c0001t0117g0258 a0001c0001t0119g0271 a0001c0001t0121g0273 a0001c0002t0017g0250 a0001c0002t0027g0256 a0001c0002t0035g0222 a0001c0002t0084g0194 a0001c0002t0109g0137 a0001c0002t0110g0080 a0001c0004t0014g0169 a0001c0006t0025g0093 a0001c0006t0025g0095 a0003c0007t0076g0074	44	274	0.1606	-20	c.781 others(37): Show c.781-5771_781-5752delTCCTTCCTTCCTTCCTTCCT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	6/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36936816	GCACACAC others(13): Show GCACACACACACATGCACACA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0193 a0001c0002t0004g0193	1	274	0.0037	-20	c.781 others(39): Show c.781-13352_781-13333delTGTGTGCATGTGTGTGTGTG	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	6/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36973115	GAAAGGAA others(13): Show GAAAGGAAAGGAAAGGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02055.hp2 HG03516.hp1 others(2): Show HG01071.hp2 HG02055.hp2 HG03516.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0050 a0001c0002t0004 a0001c0002t0006 others(2): Show a0001c0001t0050 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0069	a0001c0001t0050g0012 a0001c0002t0004g0246 a0001c0002t0006g0066 others(2): Show a0001c0001t0050g0012 a0001c0002t0004g0246 a0001c0002t0006g0066 a0001c0002t0009g0201 a0001c0002t0069g0058	5	274	0.0183	-20	c.605 others(37): Show c.605-6411_605-6392delTCTTTCCTTTCCTTTCCTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX6_chr11_31784026_31816322	31794420	CCACACAC others(13): Show CCACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(142): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(77): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0002g0003 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0218 a0001c0001t0003g0014 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0117 a0001c0001t0003g0140 a0001c0001t0003g0154 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0199 a0001c0001t0003g0225 a0001c0001t0004g0219 a0001c0001t0005g0166 a0001c0001t0007g0110 a0001c0001t0011g0155 a0001c0001t0013g0189 a0001c0002t0003g0230 a0001c0002t0003g0231	145	376	0.3856	-20	c.724 others(35): Show c.724+190_724+209delTGTGTGTGTGTGTGTGTGTG	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding	9/13			chr11	TogoVar
PAX7_chr1_18625846_18753866	18635511	TAGGAAGG others(13): Show TAGGAAGGAAGGAAGGAAAGA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG02280.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0025 a0001c0001t0009 a0001c0002t0025	a0001c0001t0009g0007 a0001c0002t0025g0008 a0001c0001t0009g0007 a0001c0002t0025g0008	2	302	0.0066	-20	c.451 others(35): Show c.451+291_451+310delAAGGAAGGAAGGAAGGAAAG	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX7_chr1_18625846_18753866	18679800	GTTGTTCA others(13): Show GTTGTTCATTCATTCAGGCAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	302	0.0033	-20	c.587 others(39): Show c.587-11938_587-11919delGGCATTTGTTCATTCATTCA	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX7_chr1_18625846_18753866	18681691	ATTTATTT others(13): Show ATTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00639.hp1 others(84): Show HG00423.hp1 HG00438.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG04199.hp1 NA18906.hp1 NA18962.hp1 NA18964.hp2 NA18970.hp1 NA18979.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp1 NA19010.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0013 a0003c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0026 a0001c0001t0036 a0001c0001t0040 a0001c0001t0054 a0001c0001t0055 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0023 a0001c0002t0029 a0001c0002t0041 a0001c0002t0060 a0001c0003t0034 a0001c0006t0016 a0001c0011t0005 a0001c0013t0021 a0003c0016t0002	a0001c0001t0001g0018 a0001c0001t0001g0062 a0001c0001t0001g0064 others(84): Show a0001c0001t0001g0018 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0238 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0002g0057 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0150 a0001c0001t0002g0178 a0001c0001t0002g0189 a0001c0001t0002g0222 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0113 a0001c0001t0003g0118 a0001c0001t0003g0281 a0001c0001t0004g0063 a0001c0001t0004g0107 a0001c0001t0005g0004 a0001c0001t0005g0031 a0001c0001t0006g0089 a0001c0001t0006g0103 a0001c0001t0007g0115 a0001c0001t0007g0279 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0015 a0001c0001t0008g0021 a0001c0001t0009g0007 a0001c0001t0009g0286 a0001c0001t0010g0095 a0001c0001t0010g0111 a0001c0001t0012g0108 a0001c0001t0012g0273 a0001c0001t0012g0274 a0001c0001t0016g0094 a0001c0001t0016g0110 a0001c0001t0019g0023 a0001c0001t0019g0030 a0001c0001t0026g0288 a0001c0001t0036g0120 a0001c0001t0040g0040 a0001c0001t0054g0085 a0001c0001t0055g0190 a0001c0002t0002g0090 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0011g0293 a0001c0002t0012g0260 a0001c0002t0013g0292 a0001c0002t0023g0127 a0001c0002t0029g0294 a0001c0002t0041g0256 a0001c0002t0060g0122 a0001c0003t0034g0138 a0001c0006t0016g0116 a0001c0011t0005g0001 a0001c0013t0021g0109 a0003c0016t0002g0081	87	302	0.2881	-20	c.587 others(39): Show c.587-10019_587-10000delATTTTATTTTATTTTATTTT	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX8_chr2_113210997_113283921	113212481	AGGTGCCT others(13): Show AGGTGCCTTGGCTTCAGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02976.hp2 HG02257.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0026 a0001c0003t0013g0027 a0001c0003t0013g0026 a0001c0003t0013g0027	2	300	0.0067	-20	c.60 others(31): Show c.6032_*6051delCTCCCTGAAGCCAAGGCACC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding		3515		chr2	TogoVar
PAX8_chr2_113210997_113283921	113224839	TATAAAAT others(13): Show TATAAAATAAAATAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02071.hp1 HG02074.hp1 others(29): Show HG00323.hp2 HG02071.hp1 HG02074.hp1 HG02698.hp1 HG03669.hp1 NA18612.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18967.hp1 NA18980.hp1 NA18983.hp1 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003	a0001c0001t0002g0085 a0001c0001t0003g0008 a0001c0001t0003g0009 others(23): Show a0001c0001t0002g0085 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0043 a0001c0001t0003g0062 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0002t0003g0017 a0001c0002t0003g0129 a0001c0002t0003g0137	32	300	0.1067	-20	c.118 others(39): Show c.1189+2296_1189+2315delTTTATTTTATTTTATTTTAT	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	10/11			chr2	TogoVar
PAXBP1_chr21_32728899_32776755	32771929	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	-20	c.-28 others(29): Show c.-281_-262delGCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		175		chr21	TogoVar
PBDC1_chrX_76168062_76183314	76170001	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA19084.hp1 NA18949.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	293	0.0068	-20	c.-31 others(31): Show c.-3137_-3118delAAATAAATAAATAAATAAAT	PBDC1	ENSG00000102390.11	transcript	ENST00000373358.8	protein_coding		3060		chrX	TogoVar
PBLD_chr10_68277660_68337928	68330709	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19063.hp1 HG02896.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0274 a0002c0002t0002g0347 a0001c0001t0001g0274 a0002c0002t0002g0347	2	364	0.0055	-20	c.-60 others(37): Show c.-60+2055_-60+2074delACACACACACACACACACAC	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	1/9			chr10	TogoVar
PBOV1_chr6_138210986_138223491	138215873	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGAAAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00558.hp2 others(69): Show HG00140.hp2 HG00408.hp1 HG00558.hp2 HG00673.hp2 HG01099.hp1 HG01255.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02602.hp2 HG02615.hp2 HG03017.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp2 NA18976.hp1 NA18977.hp1 NA18978.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0020 a0002c0002t0002 a0002c0002t0020	a0002c0002t0002g0000 a0002c0002t0020g0000 a0002c0002t0002g0000 a0002c0002t0020g0000	72	384	0.1875	-20	c.20 others(31): Show c.2095_*2114delTCTTTCACACACACACACAC	PBOV1	ENSG00000254440.3	transcript	ENST00000527246.3	protein_coding		112		chr6	TogoVar
PBRM1_chr3_52540367_52690913	52596436	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp1 HG02074.hp1 others(9): Show HG01123.hp2 HG01261.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02970.hp1 NA18906.hp1 NA18949.hp2 NA18995.hp1 NA19007.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003	a0001c0001t0002g0074 a0001c0002t0001g0157 a0001c0002t0001g0166 others(9): Show a0001c0001t0002g0074 a0001c0002t0001g0157 a0001c0002t0001g0166 a0001c0002t0001g0171 a0001c0002t0001g0206 a0001c0002t0001g0214 a0001c0002t0001g0225 a0001c0002t0001g0287 a0001c0002t0001g0289 a0001c0002t0003g0201 a0001c0002t0003g0213 a0001c0002t0003g0248	12	300	0.0400	-20	c.282 others(39): Show c.2824+7065_2824+7084delTTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	19/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52676133	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03516.hp2 NA18522.hp1 others(1): Show HG02572.hp1 HG03516.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0024 a0001c0001t0002g0090 a0001c0001t0002g0096 others(1): Show a0001c0001t0002g0024 a0001c0001t0002g0090 a0001c0001t0002g0096 a0001c0001t0019g0122	4	300	0.0133	-20	c.236 others(37): Show c.236+2347_236+2366delATTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	3/31			chr3	TogoVar
PBX1_chr1_164554184_164856831	164571873	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0049 a0002c0002t0002g0049	1	184	0.0054	-20	c.265 others(37): Show c.265+8586_265+8605delATATATATATATATATATAT	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164706068	AGACACTT others(13): Show AGACACTTGTGACTTACTAAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0052 a0001c0001t0036g0052	1	184	0.0054	-20	c.266 others(39): Show c.266-86423_266-86404delCACTTGTGACTTACTAAGGA	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX1_chr1_164554184_164856831	164716685	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0061 a0001c0001t0014g0061	1	184	0.0054	-20	c.266 others(39): Show c.266-75783_266-75764delCACACACACACACACACACA	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX3_chr9_125742373_125972377	125943352	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02723.hp2 others(3): Show HG02258.hp2 HG02572.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0181 a0001c0001t0001g0198 a0001c0001t0001g0283 others(3): Show a0001c0001t0001g0181 a0001c0001t0001g0198 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0011g0290	6	294	0.0204	-20	c.843 others(37): Show c.843+7773_843+7792delAAAAAAAAAAAAAAAAAAAA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP2_chr12_53447102_53486162	53451331	CATATATA others(13): Show CATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	348	0.0029	-20	c.-11 others(31): Show c.-1120_-1101delATATATATATATATATATAT	PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding		770		chr12	TogoVar
PCBP3_chr21_45638725_45947450	45669805	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19240.hp1 HG01891.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0217 a0001c0001t0002g0218	2	292	0.0069	-20	c.-20 others(37): Show c.-200+875_-200+894delATATATATATATATATATAT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100298629	CCCCTCCC others(13): Show CCCCTCCCTCCCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	174	0.0058	-20	c.106 others(39): Show c.1066-2804_1066-2785delCTCCCTCCCTCCCTCCCTCC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100298656	CTCCCTCC others(13): Show CTCCCTCCCTCCCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG02132.hp1 others(5): Show HG00099.hp1 HG01099.hp2 HG02132.hp1 HG02735.hp2 HG02818.hp1 HG03098.hp1 HG03486.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0010t0001	a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0001t0001g0111 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0003g0152 a0001c0002t0001g0086 a0001c0010t0001g0060	8	174	0.0460	-20	c.106 others(39): Show c.1066-2800_1066-2781delCTCCCTCCCTCCCTCCTTCC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100298660	CTCCCTCC others(13): Show CTCCCTCCCTCCCTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG00735.hp1 others(20): Show HG00408.hp2 HG00639.hp2 HG00735.hp1 HG01346.hp2 HG01361.hp1 HG01517.hp1 HG02145.hp2 HG02300.hp1 HG02559.hp2 HG02723.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG04199.hp2 NA18945.hp2 NA18979.hp1 NA19064.hp2 NA19081.hp1 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0002t0001 a0005c0006t0001 a0001c0001t0001 a0001c0002t0001 a0005c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0002t0001g0102 a0005c0006t0001g0166	23	174	0.1322	-20	c.106 others(39): Show c.1066-2796_1066-2777delCTCCCTCCCTCCTTCCTTCC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100298664	CTCCCTCC others(13): Show CTCCCTCCCTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18956.hp2 HG02818.hp2 NA18956.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0065 a0007c0007t0001g0167 a0001c0001t0001g0065 a0007c0007t0001g0167	2	174	0.0115	-20	c.106 others(39): Show c.1066-2792_1066-2773delCTCCCTCCTTCCTTCCTTCC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100321591	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	174	0.0058	-20	c.143 others(39): Show c.1430-8944_1430-8925delGTGTGTGTGTGTGTGTGTGT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100348727	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	174	0.0058	-20	c.164 others(39): Show c.1643+8512_1643+8531delTCTTTCTTTCTTTCTTTCTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100348775	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03453.hp1 HG02258.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0148 a0001c0001t0001g0149	2	174	0.0115	-20	c.164 others(39): Show c.1643+8520_1643+8539delTCTTTCTTTCTTCCTTCCTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100348779	TCTTTCTT others(13): Show TCTTTCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp2 HG02148.hp2 others(9): Show HG00099.hp2 HG01255.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG03710.hp1 NA18968.hp2 NA18983.hp1 NA18989.hp2 NA18999.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0052 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0052 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0165	12	174	0.0690	-20	c.164 others(39): Show c.1643+8524_1643+8543delTCTTTCTTCCTTCCTTCCTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100348783	TCTTTCTT others(13): Show TCTTTCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	174	0.0058	-20	c.164 others(39): Show c.1643+8528_1643+8547delTCTTCCTTCCTTCCTTCCTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar

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