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

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PAWR_chr12_79579879_79695964	79584268	ATTTTCTG others(3): Show ATTTTCTGTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	256	0.0039	-10	c.83 others(21): Show c.8329_*8338delGTACAGAAAA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding		610		chr12	TogoVar
PAWR_chr12_79579879_79695964	79613977	ATATTTTT others(3): Show ATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	256	0.0039	-10	c.649 others(25): Show c.649-378_649-369delAAAAAAAATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613979	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG01928.hp2 others(4): Show HG00438.hp1 HG01891.hp1 HG01928.hp2 HG03927.hp2 HG06807.hp2 NA18952.hp1 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0003 a0002c0002t0001 a0001c0001t0002 a0001c0003t0003 a0002c0002t0001	a0001c0001t0002g0064 a0001c0001t0002g0108 a0001c0001t0002g0112 others(4): Show a0001c0001t0002g0064 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0003t0003g0103 a0001c0003t0003g0254 a0002c0002t0001g0219	7	256	0.0273	-10	c.649 others(25): Show c.649-380_649-371delAAAAAAAAAA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79632302	TATATACA others(3): Show TATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp2 HG02300.hp1 others(10): Show HG00621.hp1 HG01069.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02630.hp2 HG03688.hp2 HG03927.hp2 HG04228.hp1 NA18946.hp2 NA18967.hp2 NA18985.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0003 a0001c0003t0013 others(3): Show a0001c0001t0002 a0001c0003t0003 a0001c0003t0013 a0002c0002t0001 a0002c0002t0005 a0002c0002t0012	a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0003t0003g0078 others(10): Show a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0003t0003g0078 a0001c0003t0003g0083 a0001c0003t0003g0143 a0001c0003t0003g0254 a0001c0003t0013g0041 a0001c0003t0013g0095 a0002c0002t0001g0206 a0002c0002t0001g0210 a0002c0002t0001g0226 a0002c0002t0005g0243 a0002c0002t0012g0221	13	256	0.0508	-10	c.517 others(29): Show c.517-11105_517-11096delGTATGTATAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79632353	ATATATAT others(3): Show ATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02080.hp2 NA18959.hp1 HG01952.hp2 HG02080.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0053 a0001c0001t0002g0119 a0001c0003t0003g0046 a0001c0001t0002g0053 a0001c0001t0002g0119 a0001c0003t0003g0046	3	256	0.0117	-10	c.517 others(29): Show c.517-11156_517-11147delAATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79638790	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp1 HG02145.hp1 HG02976.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0033 a0005c0007t0034 a0005c0007t0033 a0005c0007t0034	a0005c0007t0033g0256 a0005c0007t0034g0255 a0005c0007t0033g0256 a0005c0007t0034g0255	2	256	0.0078	-10	c.517 others(29): Show c.517-17593_517-17584delACACACACAC	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79639881	TATTCCAT others(3): Show TATTCCATTCC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0109 a0001c0001t0025g0109	1	256	0.0039	-10	c.517 others(29): Show c.517-18684_517-18675delGGAATGGAAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79644665	TAGCAAAA others(3): Show TAGCAAAAACA	T T	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	256	0.0039	-10	c.517 others(29): Show c.517-23468_517-23459delTGTTTTTGCT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX2_chr10_100740582_100834944	100742843	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02886.hp2 HG02976.hp2 HG01884.hp1 HG02886.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0014 a0001c0002t0008 a0001c0002t0014	a0001c0002t0008g0095 a0001c0002t0014g0008 a0001c0002t0014g0010 a0001c0002t0008g0095 a0001c0002t0014g0008 a0001c0002t0014g0010	3	232	0.0129	-10	c.-34 others(21): Show c.-3417_-3408delTTTTTTTTTT	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding		2738		chr10	TogoVar
PAX2_chr10_100740582_100834944	100751769	AGCAGCAC others(3): Show AGCAGCACTGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01109.hp2 others(45): Show HG00639.hp2 HG00733.hp1 HG01109.hp2 HG01243.hp2 HG01358.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0017 a0001c0001t0032 others(20): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0032 a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0040 a0001c0002t0041 a0001c0002t0044 a0001c0002t0046 a0001c0002t0047 a0001c0002t0049 a0001c0003t0009 a0001c0004t0016 a0002c0005t0008	a0001c0001t0001g0190 a0001c0001t0017g0129 a0001c0001t0017g0130 others(44): Show a0001c0001t0001g0190 a0001c0001t0017g0129 a0001c0001t0017g0130 a0001c0001t0032g0100 a0001c0002t0001g0014 a0001c0002t0008g0095 a0001c0002t0008g0125 a0001c0002t0008g0126 a0001c0002t0008g0167 a0001c0002t0008g0174 a0001c0002t0008g0175 a0001c0002t0009g0001 a0001c0002t0013g0091 a0001c0002t0013g0092 a0001c0002t0013g0138 a0001c0002t0014g0008 a0001c0002t0014g0009 a0001c0002t0014g0010 a0001c0002t0014g0011 a0001c0002t0015g0136 a0001c0002t0015g0137 a0001c0002t0015g0186 a0001c0002t0016g0007 a0001c0002t0017g0176 a0001c0002t0024g0012 a0001c0002t0024g0013 a0001c0002t0025g0193 a0001c0002t0025g0198 a0001c0002t0026g0016 a0001c0002t0026g0017 a0001c0002t0040g0184 a0001c0002t0041g0188 a0001c0002t0044g0181 a0001c0002t0046g0226 a0001c0002t0047g0210 a0001c0002t0049g0219 a0001c0003t0009g0105 a0001c0003t0009g0168 a0001c0003t0009g0177 a0001c0003t0009g0178 a0001c0003t0009g0179 a0001c0003t0009g0185 a0001c0003t0009g0187 a0001c0004t0016g0182 a0001c0004t0016g0183 a0002c0005t0008g0172 a0002c0005t0008g0173	48	232	0.2069	-10	c.410 others(25): Show c.410+881_410+890delAGCACTGGGC	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX2_chr10_100740582_100834944	100769624	AAGAATAA others(3): Show AAGAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0210 a0001c0002t0047g0210	1	232	0.0043	-10	c.411 others(27): Show c.411-9872_411-9863delGAATAAAATA	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX2_chr10_100740582_100834944	100805016	TCTCACAT others(3): Show TCTCACATACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02572.hp1 others(2): Show HG01884.hp1 HG02258.hp2 HG02572.hp1 HG02738.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0014 a0001c0002t0016 others(1): Show a0001c0002t0012 a0001c0002t0014 a0001c0002t0016 a0001c0002t0019	a0001c0002t0012g0148 a0001c0002t0014g0010 a0001c0002t0014g0011 others(2): Show a0001c0002t0012g0148 a0001c0002t0014g0010 a0001c0002t0014g0011 a0001c0002t0016g0007 a0001c0002t0019g0103	5	232	0.0216	-10	c.617 others(27): Show c.617-1412_617-1403delTCACATACAC	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX2_chr10_100740582_100834944	100805018	TCACATAC others(3): Show TCACATACACA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02451.hp2 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0023 a0001c0002t0001 a0001c0002t0023	a0001c0002t0001g0014 a0001c0002t0023g0015 a0001c0002t0001g0014 a0001c0002t0023g0015	2	232	0.0086	-10	c.617 others(27): Show c.617-1407_617-1398delTACACACACA	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX2_chr10_100740582_100834944	100805023	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02015.hp2 HG02155.hp2 others(10): Show HG00597.hp2 HG02015.hp2 HG02155.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG03041.hp1 HG03239.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG04184.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0022 a0001c0001t0027 a0001c0001t0032 a0001c0001t0036 a0001c0001t0050	a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0069 others(10): Show a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0110 a0001c0001t0002g0034 a0001c0001t0004g0194 a0001c0001t0017g0129 a0001c0001t0017g0130 a0001c0001t0022g0081 a0001c0001t0027g0051 a0001c0001t0032g0100 a0001c0001t0036g0141 a0001c0001t0050g0231	13	232	0.0560	-10	c.617 others(27): Show c.617-1364_617-1355delACACACACAC	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX2_chr10_100740582_100834944	100824353	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03471.hp1 HG01261.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0013 a0001c0001t0018 a0001c0002t0013	a0001c0001t0018g0112 a0001c0002t0013g0138 a0001c0001t0018g0112 a0001c0002t0013g0138	2	232	0.0086	-10	c.920 others(25): Show c.920-261_920-252delCACACACACA	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX3_chr2_222194887_222303998	222203012	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18948.hp2 NA18949.hp1 others(4): Show NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18955.hp1 NA18995.hp2 NA19065.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0007t0002 a0001c0001t0002 a0001c0001t0003 a0001c0007t0002	a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 others(4): Show a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0003g0108 a0001c0001t0003g0155 a0001c0001t0003g0219 a0001c0007t0002g0117	7	328	0.0213	-10	c.117 others(27): Show c.1174-832_1174-823delATATATATAT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	7/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222209696	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp2 HG01123.hp1 others(32): Show HG00438.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01928.hp1 HG01981.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02293.hp1 HG02602.hp1 HG02723.hp2 HG02970.hp2 HG03471.hp1 HG03704.hp1 HG03831.hp2 NA18940.hp2 NA18941.hp2 NA18949.hp1 NA18962.hp2 NA18967.hp2 NA18972.hp1 NA18973.hp1 NA18978.hp2 NA18983.hp1 NA18986.hp2 NA18994.hp1 NA19043.hp2 NA19060.hp2 NA19067.hp2 NA19078.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0001c0010 others(1): Show a0001c0001 a0001c0007 a0001c0010 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0002 a0001c0010t0002 a0003c0005t0002	a0001c0001t0001g0002 a0001c0001t0001g0143 a0001c0001t0001g0151 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0222 a0001c0001t0001g0280 a0001c0001t0001g0308 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0161 a0001c0001t0002g0189 a0001c0001t0002g0238 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0271 a0001c0001t0003g0039 a0001c0007t0002g0117 a0001c0010t0002g0149 a0003c0005t0002g0181 a0003c0005t0002g0305	35	328	0.1067	-10	c.117 others(29): Show c.1174-7516_1174-7507delTTTTTTTTTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	7/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222212622	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	328	0.0031	-10	c.117 others(29): Show c.1173+7508_1173+7517delGTGTGTGTGT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	7/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222233079	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(46): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01934.hp2 HG02056.hp1 HG02083.hp1 HG02155.hp1 HG02735.hp1 HG03239.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG04204.hp1 NA18942.hp1 NA18949.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18972.hp2 NA19005.hp2 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19077.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0035 others(46): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0266 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0002g0139 a0001c0001t0004g0265 a0001c0001t0012g0057 a0001c0001t0013g0177 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087	49	328	0.1494	-10	c.587 others(25): Show c.587-806_587-797delTTTTTTTTTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222255917	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0321 a0001c0003t0002g0321	1	328	0.0031	-10	c.587 others(29): Show c.587-23644_587-23635delAAAAAAAAAA	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222260568	TTTTTTTT others(3): Show TTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00735.hp2 others(45): Show HG00323.hp1 HG00408.hp1 HG00735.hp2 HG01106.hp1 HG01256.hp2 HG01515.hp2 HG01517.hp1 HG02015.hp1 HG02040.hp2 HG02074.hp1 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02738.hp2 HG03239.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04115.hp1 HG04115.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18948.hp1 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18972.hp2 NA18979.hp2 NA18986.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19084.hp1 NA19087.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0002c0004t0003 a0003c0005t0002	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0027 others(45): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0060 a0001c0001t0001g0208 a0001c0001t0001g0231 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0025 a0001c0001t0003g0032 a0001c0001t0003g0038 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0062 a0001c0001t0003g0157 a0001c0001t0003g0202 a0001c0001t0003g0216 a0001c0001t0003g0261 a0001c0001t0004g0199 a0001c0001t0010g0125 a0001c0001t0012g0057 a0002c0004t0003g0047 a0003c0005t0002g0181 a0003c0005t0002g0305	48	328	0.1463	-10	c.587 others(29): Show c.587-28295_587-28286delCAAAAAAAAA	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222299317	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01257.hp2 HG01884.hp2 others(1): Show HG01099.hp2 HG01257.hp2 HG01884.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0004g0313 others(1): Show a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0004g0313 a0001c0001t0005g0316	4	328	0.0122	-10	c.-71 others(19): Show c.-712_-703delCACACACACA	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding		320		chr2	TogoVar
PAX4_chr7_127605292_127623142	127607990	CACACACA others(3): Show CACACACACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03831.hp1 HG02970.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0005 a0001c0001t0002 a0001c0003t0005	a0001c0001t0002g0001 a0001c0003t0005g0044 a0001c0001t0002g0001 a0001c0003t0005g0044	2	428	0.0047	-10	c.30 others(21): Show c.3064_*3073delCTGTGTGTGT	PAX4	ENSG00000106331.19	transcript	ENST00000639438.3	protein_coding		2301		chr7	TogoVar
PAX4_chr7_127605292_127623142	127608002	CACACACA others(3): Show CACACACACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA19065.hp2 NA18970.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0018	2	428	0.0047	-10	c.30 others(21): Show c.3052_*3061delCTGTGTGTGT	PAX4	ENSG00000106331.19	transcript	ENST00000639438.3	protein_coding		2289		chr7	TogoVar
PAX5_chr9_36828269_37039268	36834417	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02970.hp2 HG02257.hp1 HG02559.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0098 a0001c0002t0016g0174 a0001c0002t0016g0220 a0001c0002t0016g0098 a0001c0002t0016g0174 a0001c0002t0016g0220	3	274	0.0110	-10	c.61 others(21): Show c.6133_*6142delACACACACAC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	10/10	6133		chr9	TogoVar
PAX5_chr9_36828269_37039268	36854865	GCACAATG others(3): Show GCACAATGTGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19240.hp1 NA19240.hp2 HG02723.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0004 a0001c0002t0056 a0002c0007t0076 a0001c0002t0004 a0001c0002t0056 a0002c0007t0076	a0001c0002t0004g0193 a0001c0002t0056g0018 a0002c0007t0076g0074 a0001c0002t0004g0193 a0001c0002t0056g0018 a0002c0007t0076g0074	3	274	0.0110	-10	c.101 others(29): Show c.1013-7946_1013-7937delACACATTGTG	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	8/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36919839	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18939.hp2 NA19077.hp2 NA18612.hp2 NA18939.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0038 a0001c0001t0001 a0001c0001t0002 a0001c0001t0038	a0001c0001t0001g0088 a0001c0001t0002g0225 a0001c0001t0038g0259 a0001c0001t0001g0088 a0001c0001t0002g0225 a0001c0001t0038g0259	3	274	0.0110	-10	c.910 others(27): Show c.910+3506_910+3515delTTTTTTTTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	7/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36955796	TATATATA others(3): Show TATATATACCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0098 a0001c0002t0016g0098	1	274	0.0037	-10	c.780 others(29): Show c.780+10743_780+10752delGGGTATATAT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	6/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36973125	GAAAGGAA others(3): Show GAAAGGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02572.hp1 HG01433.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0064 a0001c0002t0082 a0001c0001t0064 a0001c0002t0082	a0001c0001t0064g0029 a0001c0002t0082g0196 a0001c0001t0064g0029 a0001c0002t0082g0196	2	274	0.0073	-10	c.605 others(27): Show c.605-6411_605-6402delTCTTTCCTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36973135	AAAAGGAA others(3): Show AAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0034 a0003c0003t0034	a0003c0003t0034g0078 a0003c0003t0034g0078	1	274	0.0037	-10	c.605 others(27): Show c.605-6421_605-6412delCCTTTCCTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36988662	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0193 a0001c0002t0004g0193	1	274	0.0037	-10	c.604 others(29): Show c.604+13976_604+13985delTTTTTTTTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36988677	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00558.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0047 a0001c0001t0001 a0001c0001t0047	a0001c0001t0001g0161 a0001c0001t0047g0006 a0001c0001t0001g0161 a0001c0001t0047g0006	2	274	0.0073	-10	c.604 others(29): Show c.604+13961_604+13970delCTTTTTTTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX6_chr11_31784026_31816322	31794420	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00733.hp2 others(7): Show HG00280.hp1 HG00323.hp2 HG00733.hp2 HG01192.hp2 HG01978.hp2 HG02572.hp1 HG03453.hp2 HG03710.hp2 HG03927.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0067 others(7): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0175 a0001c0001t0002g0049 a0001c0001t0002g0074 a0001c0001t0003g0069	10	376	0.0266	-10	c.724 others(25): Show c.724+200_724+209delTGTGTGTGTG	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding	9/13			chr11	TogoVar
PAX6_chr11_31784026_31816322	31797145	GTGGGGGA others(3): Show GTGGGGGACAC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02630.hp1 HG02895.hp1 others(4): Show HG01496.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0146 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148	7	376	0.0186	-10	c.566 others(27): Show c.566-2367_566-2358delGTGTCCCCCA	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding	8/13			chr11	TogoVar
PAX7_chr1_18625846_18753866	18655770	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00621.hp1 others(28): Show HG00280.hp1 HG00597.hp1 HG00621.hp1 HG01106.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02135.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02630.hp2 HG03041.hp2 HG03486.hp1 HG03492.hp1 HG04115.hp1 NA18747.hp1 NA18950.hp1 NA18957.hp1 NA18983.hp1 NA19004.hp1 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp2 NA19087.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0023 a0001c0002t0025 a0001c0002t0028 a0001c0002t0056 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0003t0001 a0001c0003t0005 a0001c0003t0043 a0001c0004t0002 a0001c0004t0013 a0001c0007t0009 a0002c0009t0002	a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0003g0042 others(28): Show a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0007g0045 a0001c0001t0012g0043 a0001c0001t0022g0124 a0001c0001t0022g0126 a0001c0002t0001g0242 a0001c0002t0001g0251 a0001c0002t0002g0246 a0001c0002t0002g0255 a0001c0002t0010g0253 a0001c0002t0023g0121 a0001c0002t0023g0127 a0001c0002t0025g0008 a0001c0002t0028g0006 a0001c0002t0056g0239 a0001c0002t0058g0056 a0001c0002t0059g0123 a0001c0002t0060g0122 a0001c0002t0061g0125 a0001c0003t0001g0241 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0005g0020 a0001c0003t0043g0254 a0001c0004t0002g0240 a0001c0004t0013g0300 a0001c0007t0009g0301 a0002c0009t0002g0252	31	302	0.1027	-10	c.586 others(29): Show c.586+19430_586+19439delGTGTGTGTGT	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX7_chr1_18625846_18753866	18681691	ATTTATTT others(3): Show ATTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02615.hp1 HG03041.hp1 others(6): Show HG02135.hp2 HG02615.hp1 HG03041.hp1 HG03669.hp1 HG03831.hp2 HG04115.hp1 HG04204.hp1 NA19043.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 a0001c0002t0032 a0001c0003t0002 a0001c0004t0001 a0001c0004t0013 a0001c0007t0009	a0001c0001t0001g0230 a0001c0001t0015g0276 a0001c0002t0003g0054 others(6): Show a0001c0001t0001g0230 a0001c0001t0015g0276 a0001c0002t0003g0054 a0001c0002t0032g0005 a0001c0003t0002g0158 a0001c0004t0001g0162 a0001c0004t0001g0166 a0001c0004t0013g0300 a0001c0007t0009g0301	9	302	0.0298	-10	c.587 others(29): Show c.587-10009_587-10000delATTTTATTTT	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX7_chr1_18625846_18753866	18700077	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(68): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG01069.hp2 HG01256.hp1 HG01257.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03471.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19079.hp1 NA19087.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0009 a0002c0014 a0004c0010	a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 others(30): Show a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0017 a0001c0002t0018 a0001c0002t0027 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0041 a0001c0002t0046 a0001c0002t0050 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0009 a0001c0003t0014 a0001c0003t0034 a0001c0003t0035 a0001c0003t0043 a0001c0003t0049 a0001c0003t0052 a0002c0009t0002 a0002c0014t0005 a0004c0010t0048	a0001c0001t0044g0084 a0001c0002t0001g0209 a0001c0002t0001g0213 others(68): Show a0001c0001t0044g0084 a0001c0002t0001g0209 a0001c0002t0001g0213 a0001c0002t0001g0242 a0001c0002t0001g0271 a0001c0002t0002g0039 a0001c0002t0002g0060 a0001c0002t0002g0079 a0001c0002t0002g0090 a0001c0002t0002g0100 a0001c0002t0002g0156 a0001c0002t0004g0010 a0001c0002t0004g0037 a0001c0002t0004g0086 a0001c0002t0005g0022 a0001c0002t0007g0104 a0001c0002t0008g0012 a0001c0002t0008g0013 a0001c0002t0008g0026 a0001c0002t0009g0287 a0001c0002t0011g0298 a0001c0002t0017g0291 a0001c0002t0018g0016 a0001c0002t0018g0019 a0001c0002t0027g0297 a0001c0002t0029g0294 a0001c0002t0030g0024 a0001c0002t0031g0028 a0001c0002t0041g0256 a0001c0002t0046g0278 a0001c0002t0050g0038 a0001c0003t0001g0058 a0001c0003t0001g0073 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0143 a0001c0003t0001g0169 a0001c0003t0001g0182 a0001c0003t0001g0188 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0241 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0268 a0001c0003t0002g0133 a0001c0003t0002g0158 a0001c0003t0002g0175 a0001c0003t0002g0184 a0001c0003t0002g0199 a0001c0003t0002g0207 a0001c0003t0002g0208 a0001c0003t0002g0237 a0001c0003t0002g0248 a0001c0003t0002g0249 a0001c0003t0004g0185 a0001c0003t0005g0020 a0001c0003t0006g0141 a0001c0003t0006g0142 a0001c0003t0006g0198 a0001c0003t0006g0269 a0001c0003t0009g0299 a0001c0003t0014g0076 a0001c0003t0034g0138 a0001c0003t0035g0236 a0001c0003t0043g0254 a0001c0003t0049g0183 a0001c0003t0052g0258 a0002c0009t0002g0252 a0002c0014t0005g0025 a0004c0010t0048g0181	71	302	0.2351	-10	c.787 others(25): Show c.787-545_787-536delGTGTGTGTGT	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX7_chr1_18625846_18753866	18726145	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00639.hp1 others(51): Show HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01167.hp1 HG01167.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01517.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 NA18522.hp2 NA18947.hp2 NA18950.hp2 NA18962.hp1 NA18962.hp2 NA18973.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19010.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0002c0009 a0002c0012 a0002c0014 a0003c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0020 a0001c0001t0022 a0001c0001t0057 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0002t0011 a0001c0002t0021 a0001c0002t0031 a0001c0002t0047 a0001c0003t0001 a0001c0003t0002 a0001c0003t0034 a0001c0003t0052 a0001c0004t0002 a0001c0007t0009 a0001c0008t0001 a0002c0009t0002 a0002c0012t0002 a0002c0014t0005 a0003c0016t0002	a0001c0001t0001g0074 a0001c0001t0001g0102 a0001c0001t0001g0112 others(51): Show a0001c0001t0001g0074 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0147 a0001c0001t0001g0161 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0057 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0004g0106 a0001c0001t0005g0004 a0001c0001t0009g0286 a0001c0001t0020g0266 a0001c0001t0022g0124 a0001c0001t0057g0070 a0001c0002t0002g0039 a0001c0002t0002g0255 a0001c0002t0003g0054 a0001c0002t0004g0048 a0001c0002t0005g0022 a0001c0002t0009g0287 a0001c0002t0011g0289 a0001c0002t0011g0293 a0001c0002t0011g0298 a0001c0002t0021g0195 a0001c0002t0031g0028 a0001c0002t0047g0135 a0001c0003t0001g0058 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0143 a0001c0003t0001g0227 a0001c0003t0002g0133 a0001c0003t0002g0199 a0001c0003t0002g0207 a0001c0003t0002g0248 a0001c0003t0002g0249 a0001c0003t0034g0138 a0001c0003t0052g0258 a0001c0004t0002g0240 a0001c0007t0009g0301 a0001c0008t0001g0173 a0002c0009t0002g0252 a0002c0012t0002g0172 a0002c0014t0005g0025 a0003c0016t0002g0081	54	302	0.1788	-10	c.115 others(29): Show c.1156-9462_1156-9453delGTGTGTGTGT	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX7_chr1_18625846_18753866	18727368	TCATACAC others(3): Show TCATACACACA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp2 HG02970.hp1 others(3): Show HG02280.hp1 HG02723.hp2 HG02970.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0002t0012 a0001c0002t0023	a0001c0001t0003g0113 a0001c0001t0012g0043 a0001c0001t0012g0108 others(3): Show a0001c0001t0003g0113 a0001c0001t0012g0043 a0001c0001t0012g0108 a0001c0001t0013g0302 a0001c0002t0012g0260 a0001c0002t0023g0127	6	302	0.0199	-10	c.115 others(29): Show c.1156-8261_1156-8252delTACACACACA	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX7_chr1_18625846_18753866	18727371	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0290 a0001c0001t0009g0290	1	302	0.0033	-10	c.115 others(29): Show c.1156-8231_1156-8222delCACACACACA	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX8_chr2_113210997_113283921	113224836	AAATATAA others(3): Show AAATATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0236 a0001c0001t0014g0236	1	300	0.0033	-10	c.118 others(29): Show c.1189+2309_1189+2318delATTTTATATT	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	10/11			chr2	TogoVar
PAX8_chr2_113210997_113283921	113224839	TATAAAAT others(3): Show TATAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02922.hp2 others(3): Show HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03453.hp2 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 a0001c0001t0002 a0001c0001t0006 a0001c0001t0021	a0001c0001t0002g0006 a0001c0001t0002g0032 a0001c0001t0006g0224 others(1): Show a0001c0001t0002g0006 a0001c0001t0002g0032 a0001c0001t0006g0224 a0001c0001t0021g0029	6	300	0.0200	-10	c.118 others(29): Show c.1189+2306_1189+2315delTTTATTTTAT	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	10/11			chr2	TogoVar
PAX8_chr2_113210997_113283921	113255254	GGGAGGAG others(3): Show GGGAGGAGGGA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0168 a0001c0001t0008g0168	1	300	0.0033	-10	c.26- others(25): Show c.26-8345_26-8336delTCCCTCCTCC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	2/11			chr2	TogoVar
PAX8_chr2_113210997_113283921	113256626	ATATATGT others(3): Show ATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG02647.hp1 others(6): Show HG02258.hp2 HG02622.hp2 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03471.hp1 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0002 a0001c0001t0009 a0001c0001t0016	a0001c0001t0002g0006 a0001c0001t0002g0032 a0001c0001t0009g0031 others(4): Show a0001c0001t0002g0006 a0001c0001t0002g0032 a0001c0001t0009g0031 a0001c0001t0009g0119 a0001c0001t0009g0120 a0001c0001t0009g0121 a0001c0001t0016g0033	9	300	0.0300	-10	c.26- others(25): Show c.26-9717_26-9708delCACACATATA	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	2/11			chr2	TogoVar
PAX8_chr2_113210997_113283921	113280156	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00639.hp2 others(52): Show HG00099.hp2 HG00408.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp1 HG01884.hp2 HG01981.hp1 HG02015.hp2 HG02040.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03471.hp1 HG03486.hp1 HG03834.hp1 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18948.hp2 NA18954.hp2 NA18963.hp1 NA18966.hp2 NA18973.hp1 NA18977.hp1 NA18989.hp2 NA19002.hp2 NA19009.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0006t0002 a0001c0007t0005	a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0002g0004 others(38): Show a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0125 a0001c0001t0005g0002 a0001c0001t0005g0100 a0001c0001t0005g0105 a0001c0001t0007g0087 a0001c0001t0007g0103 a0001c0001t0009g0119 a0001c0001t0009g0120 a0001c0001t0009g0121 a0001c0001t0015g0098 a0001c0001t0015g0111 a0001c0001t0017g0020 a0001c0001t0022g0124 a0001c0001t0024g0250 a0001c0006t0002g0101 a0001c0007t0005g0102	55	300	0.1833	-10	c.-14 others(21): Show c.-1411_-1402delCACACACACA	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding		1236		chr2	TogoVar
PAX9_chr14_36656860_36684362	36672852	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02258.hp2 HG02630.hp1 others(2): Show HG00738.hp1 HG02258.hp2 HG02630.hp1 HG02886.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0008 a0002c0002t0010 others(1): Show a0001c0001t0001 a0002c0002t0008 a0002c0002t0010 a0002c0002t0024	a0001c0001t0001g0279 a0002c0002t0008g0083 a0002c0002t0008g0085 others(2): Show a0001c0001t0001g0279 a0002c0002t0008g0083 a0002c0002t0008g0085 a0002c0002t0010g0102 a0002c0002t0024g0084	5	446	0.0112	-10	c.772 others(27): Show c.772-3325_772-3316delTTTTTTTTTT	PAX9	ENSG00000198807.13	transcript	ENST00000361487.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAXBP1_chr21_32728899_32776755	32771849	AGAGAGAG others(3): Show AGAGAGAGAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	360	0.0028	-10	c.-19 others(19): Show c.-191_-182delACTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		95		chr21	TogoVar
PAXIP1_chr7_154938690_155008124	154975523	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01169.hp2 others(9): Show HG01109.hp1 HG01167.hp2 HG01169.hp2 HG02559.hp1 HG02717.hp2 HG02723.hp2 HG02976.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0109 others(7): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0109 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0003g0239 a0001c0002t0001g0079	12	362	0.0332	-10	c.107 others(27): Show c.1074+163_1074+172delGTGTGTGTGT	PAXIP1	ENSG00000157212.20	transcript	ENST00000404141.6	protein_coding	6/20			chr7	TogoVar
PAXX_chr9_136987422_136998976	136998478	TGCGTGGC others(3): Show TGCGTGGCGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-10	c.46 others(21): Show c.4674_*4683delGCGTGGCGTG	PAXX	ENSG00000148362.11	transcript	ENST00000371620.4	protein_coding		4503		chr9	TogoVar
PBK_chr8_27804624_27842817	27805287	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	392	0.0026	-10	c.50 others(21): Show c.5008_*5017delTTTTTTTTTT	PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding		4336		chr8	TogoVar

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