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
PTPRU_chr1_29231522_29331800	29269219	CATATATA others(1): Show CATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02683.hp2 HG03490.hp2 others(1): Show HG01975.hp1 HG02683.hp2 HG03490.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 others(1): Show a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0002c0002t0001g0081	4	296	0.0135	-8	c.114 others(27): Show c.1145-6208_1145-6201delATATATAT	PTPRU	ENSG00000060656.20	transcript	ENST00000373779.8	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRZ1_chr7_121868161_122067036	121892679	CATATATA others(1): Show CATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01256.hp1 HG01258.hp1 others(4): Show HG00621.hp1 HG01256.hp1 HG01258.hp1 HG02257.hp1 NA18947.hp2 NA18953.hp2 NA19043.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0002c0002 a0004c0005 others(2): Show a0001c0001 a0002c0002 a0004c0005 a0005c0004 a0006c0007	a0001c0001t0004 a0002c0002t0001 a0004c0005t0004 others(2): Show a0001c0001t0004 a0002c0002t0001 a0004c0005t0004 a0005c0004t0002 a0006c0007t0003	a0001c0001t0004g0024 a0002c0002t0001g0003 a0004c0005t0004g0020 others(3): Show a0001c0001t0004g0024 a0002c0002t0001g0003 a0004c0005t0004g0020 a0005c0004t0002g0099 a0005c0004t0002g0100 a0006c0007t0003g0186	7	312	0.0224	-8	c.58+ others(25): Show c.58+19159_58+19166delATATATAT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPRZ1_chr7_121868161_122067036	121929827	AAAATAAA others(1): Show AAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG02895.hp2 others(4): Show HG01109.hp1 HG01496.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03453.hp1 NA20300.hp2	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0001 a0004c0008 a0004c0026 others(1): Show a0001c0001 a0004c0008 a0004c0026 a0015c0028	a0001c0001t0002 a0004c0008t0002 a0004c0026t0002 others(1): Show a0001c0001t0002 a0004c0008t0002 a0004c0026t0002 a0015c0028t0002	a0001c0001t0002g0002 a0001c0001t0002g0047 a0004c0008t0002g0036 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0047 a0004c0008t0002g0036 a0004c0008t0002g0046 a0004c0026t0002g0045 a0015c0028t0002g0044	7	312	0.0224	-8	c.124 others(25): Show c.124+1632_124+1639delAATAAATA	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPRZ1_chr7_121868161_122067036	121935540	TTTTTTTT others(1): Show TTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00735.hp1 others(47): Show HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01243.hp1 HG01358.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18947.hp1 NA18955.hp1 NA18960.hp1 NA18980.hp2 NA18986.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA19080.hp1 NA19091.hp2 NA19240.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0008 a0011 a0018	a0001c0001 a0002c0006 a0002c0015 others(6): Show a0001c0001 a0002c0006 a0002c0015 a0004c0005 a0005c0004 a0006c0007 a0008c0012 a0011c0035 a0018c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0006t0001 a0002c0015t0001 a0004c0005t0001 a0004c0005t0004 a0004c0005t0005 a0005c0004t0001 a0006c0007t0003 a0008c0012t0006 a0008c0012t0009 a0011c0035t0006 a0018c0030t0004	a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0222 others(47): Show a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0264 a0001c0001t0001g0305 a0001c0001t0002g0120 a0001c0001t0003g0204 a0001c0001t0004g0017 a0001c0001t0004g0021 a0001c0001t0004g0024 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0005g0026 a0002c0006t0001g0221 a0002c0006t0001g0223 a0002c0006t0001g0302 a0002c0006t0001g0303 a0002c0006t0001g0304 a0002c0015t0001g0268 a0002c0015t0001g0269 a0004c0005t0001g0238 a0004c0005t0001g0241 a0004c0005t0001g0242 a0004c0005t0001g0260 a0004c0005t0001g0262 a0004c0005t0001g0263 a0004c0005t0001g0265 a0004c0005t0004g0020 a0004c0005t0004g0023 a0004c0005t0005g0013 a0005c0004t0001g0256 a0005c0004t0001g0258 a0005c0004t0001g0259 a0005c0004t0001g0298 a0005c0004t0001g0299 a0006c0007t0003g0186 a0006c0007t0003g0187 a0006c0007t0003g0188 a0006c0007t0003g0189 a0006c0007t0003g0190 a0006c0007t0003g0197 a0006c0007t0003g0199 a0006c0007t0003g0200 a0006c0007t0003g0201 a0006c0007t0003g0202 a0008c0012t0006g0133 a0008c0012t0006g0135 a0008c0012t0009g0208 a0011c0035t0006g0134 a0018c0030t0004g0022	50	312	0.1603	-8	c.124 others(25): Show c.124+7323_124+7330delTTTTGTTT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPRZ1_chr7_121868161_122067036	121935544	TTTTGTTT others(1): Show TTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00558.hp2 others(106): Show HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18980.hp1 NA18987.hp1 NA18992.hp1 NA18998.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19054.hp1 NA19062.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19083.hp1 NA19086.hp1 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0014 a0015 a0016 a0020	a0001c0001 a0002c0002 a0002c0006 others(13): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0004c0005 a0004c0008 a0004c0026 a0005c0004 a0005c0031 a0007c0016 a0007c0034 a0010c0010 a0014c0027 a0015c0028 a0016c0029 a0020c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0002c0002t0001 a0002c0006t0002 a0003c0003t0003 a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 a0004c0008t0002 a0004c0008t0004 a0004c0026t0002 a0005c0004t0001 a0005c0004t0002 a0005c0004t0004 a0005c0031t0002 a0007c0016t0006 a0007c0034t0006 a0010c0010t0003 a0014c0027t0001 a0015c0028t0002 a0016c0029t0002 a0020c0032t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0248 others(104): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0002g0002 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0005g0001 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0007g0086 a0002c0002t0001g0283 a0002c0006t0002g0053 a0002c0006t0002g0079 a0002c0006t0002g0080 a0002c0006t0002g0105 a0002c0006t0002g0121 a0002c0006t0002g0122 a0003c0003t0003g0144 a0003c0003t0003g0156 a0003c0003t0003g0181 a0003c0003t0003g0194 a0004c0005t0001g0054 a0004c0005t0001g0055 a0004c0005t0002g0041 a0004c0005t0002g0043 a0004c0005t0002g0067 a0004c0005t0002g0117 a0004c0005t0002g0118 a0004c0005t0005g0025 a0004c0008t0002g0036 a0004c0008t0002g0046 a0004c0008t0004g0009 a0004c0026t0002g0045 a0005c0004t0001g0245 a0005c0004t0002g0038 a0005c0004t0002g0039 a0005c0004t0002g0040 a0005c0004t0002g0066 a0005c0004t0002g0069 a0005c0004t0002g0087 a0005c0004t0002g0096 a0005c0004t0002g0098 a0005c0004t0002g0099 a0005c0004t0002g0100 a0005c0004t0002g0104 a0005c0004t0002g0106 a0005c0004t0002g0107 a0005c0004t0002g0108 a0005c0004t0002g0109 a0005c0004t0002g0112 a0005c0004t0002g0113 a0005c0004t0002g0115 a0005c0004t0002g0127 a0005c0004t0002g0131 a0005c0004t0002g0132 a0005c0004t0004g0011 a0005c0004t0004g0012 a0005c0031t0002g0124 a0007c0016t0006g0212 a0007c0016t0006g0213 a0007c0034t0006g0214 a0010c0010t0003g0142 a0010c0010t0003g0143 a0010c0010t0003g0203 a0014c0027t0001g0271 a0015c0028t0002g0044 a0016c0029t0002g0091 a0020c0032t0001g0126	109	312	0.3494	-8	c.124 others(25): Show c.124+7351_124+7358delGTTTGTTT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPRZ1_chr7_121868161_122067036	121955429	CTTTGTTT others(1): Show CTTTGTTTG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01361.hp1 HG02486.hp1 others(6): Show HG00558.hp2 HG01361.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02818.hp2 HG03225.hp1 HG03486.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0004c0008t0004	a0001c0001t0001g0207 a0001c0001t0002g0095 a0001c0001t0002g0102 others(6): Show a0001c0001t0001g0207 a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0003g0204 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0034 a0001c0001t0004g0035 a0004c0008t0004g0019	9	312	0.0289	-8	c.125 others(27): Show c.125-12494_125-12487delGTTTGTTT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPRZ1_chr7_121868161_122067036	122000646	CATATATA others(1): Show CATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG02145.hp1 others(8): Show HG00544.hp2 HG00558.hp1 HG02145.hp1 HG02818.hp2 HG03017.hp2 NA18939.hp1 NA18970.hp1 NA18980.hp1 NA19004.hp2 NA19054.hp1 NA19085.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0005c0004	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0006t0001 a0003c0003t0003 a0005c0004t0002	a0001c0001t0002g0097 a0001c0001t0004g0035 a0002c0002t0001g0307 others(8): Show a0001c0001t0002g0097 a0001c0001t0004g0035 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0006t0001g0221 a0003c0003t0003g0148 a0003c0003t0003g0158 a0003c0003t0003g0184 a0005c0004t0002g0107 a0005c0004t0002g0109 a0005c0004t0002g0113	11	312	0.0353	-8	c.124 others(27): Show c.1240+2689_1240+2696delATATATAT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	10/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPRZ1_chr7_121868161_122067036	122040729	CGTGTGTG others(1): Show CGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02148.hp1 others(28): Show HG01243.hp1 HG02109.hp2 HG02148.hp1 HG02258.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02895.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03710.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18971.hp1 NA18975.hp1 NA18988.hp2 NA18994.hp2 NA19043.hp2 NA19082.hp1 NA19091.hp1 NA20129.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0007 a0008 a0013	a0001c0001 a0004c0005 a0004c0013 others(6): Show a0001c0001 a0004c0005 a0004c0013 a0005c0004 a0006c0007 a0007c0016 a0007c0034 a0008c0012 a0013c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 a0004c0013t0001 a0005c0004t0001 a0005c0004t0002 a0005c0004t0004 a0006c0007t0003 a0007c0016t0006 a0007c0034t0006 a0008c0012t0009 a0013c0025t0001	a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0002g0065 others(28): Show a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0002g0065 a0001c0001t0004g0007 a0001c0001t0004g0021 a0001c0001t0005g0028 a0001c0001t0005g0033 a0004c0005t0001g0260 a0004c0005t0002g0043 a0004c0005t0002g0058 a0004c0005t0002g0059 a0004c0005t0002g0075 a0004c0005t0002g0078 a0004c0005t0002g0117 a0004c0005t0002g0118 a0004c0005t0005g0013 a0004c0013t0001g0244 a0004c0013t0001g0261 a0005c0004t0001g0258 a0005c0004t0001g0259 a0005c0004t0002g0069 a0005c0004t0004g0011 a0005c0004t0004g0012 a0006c0007t0003g0149 a0006c0007t0003g0192 a0006c0007t0003g0193 a0007c0016t0006g0212 a0007c0016t0006g0213 a0007c0034t0006g0214 a0008c0012t0009g0208 a0013c0025t0001g0227	31	312	0.0994	-8	c.563 others(23): Show c.5638-40_5638-33delGTGTGTGT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	20/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTTG1IP2_chr7_90464639_90518397	90472279	AACACACA others(1): Show AACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00609.hp2 others(71): Show HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18978.hp2 NA18979.hp1 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19006.hp1 NA19011.hp2 NA19012.hp2 NA19076.hp1 NA19078.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0025 others(62): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0072 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0326	74	384	0.1927	-8	c.145 others(25): Show c.145+2383_145+2390delACACACAC	PTTG1IP2	ENSG00000251154.2	transcript	ENST00000509356.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTTG1IP2_chr7_90464639_90518397	90472314	ACACACAC others(1): Show ACACACACC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02258.hp2 NA18906.hp2 HG01081.hp2 HG02258.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129	3	384	0.0078	-8	c.145 others(25): Show c.145+2385_145+2392delACACACCC	PTTG1IP2	ENSG00000251154.2	transcript	ENST00000509356.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTX3_chr3_157431850_157448633	157438033	GCGCGCAC others(1): Show GCGCGCACA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02451.hp2 others(9): Show HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03130.hp2 HG03540.hp2 NA19043.hp2 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0011 a0003c0003t0004g0049 a0003c0003t0004g0050 others(1): Show a0003c0003t0004g0011 a0003c0003t0004g0049 a0003c0003t0004g0050 a0003c0003t0004g0051	12	472	0.0254	-8	c.532 others(23): Show c.532+121_532+128delGCGCACAC	PTX3	ENSG00000163661.4	transcript	ENST00000295927.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
PUDP_chrX_7043920_7153153	7044031	ATAAACAT others(1): Show ATAAACATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0102 a0002c0003t0013g0102	1	260	0.0039	-8	c.62 others(19): Show c.6257_*6264delCATGTTTA	PUDP	ENSG00000130021.15	transcript	ENST00000381077.10	protein_coding		4888		chrX	TogoVar
PUDP_chrX_7043920_7153153	7122215	ATGTGTGT others(1): Show ATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0041 a0002c0003t0002g0041	1	260	0.0039	-8	c.62- others(25): Show c.62-16385_62-16378delCACACACA	PUDP	ENSG00000130021.15	transcript	ENST00000381077.10	protein_coding	1/3			chrX	TogoVar
PUDP_chrX_7043920_7153153	7136870	AGTATCAC others(1): Show AGTATCACT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG02145.hp1 others(8): Show HG01074.hp1 HG01106.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02886.hp2 HG02976.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0091 a0001c0001t0005g0092 others(8): Show a0001c0001t0005g0018 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0005g0099 a0001c0001t0005g0183	11	260	0.0423	-8	c.61+ others(25): Show c.61+11175_61+11182delAGTGATAC	PUDP	ENSG00000130021.15	transcript	ENST00000381077.10	protein_coding	1/3			chrX	TogoVar
PUF60_chr8_143811344_143834315	143824264	GGGCGGGC others(1): Show GGGCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG04204.hp2 others(2): Show HG00408.hp2 HG00621.hp2 HG04204.hp2 NA18963.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0024 a0001c0001t0001g0081 a0001c0001t0001g0089	5	397	0.0126	-8	c.111 others(21): Show c.111+41_111+48delTGCCCGCC	PUF60	ENSG00000179950.15	transcript	ENST00000526683.6	protein_coding	2/11			chr8	TogoVar
PUM1_chr1_30926506_31070717	30933439	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02486.hp1 HG02723.hp2 others(2): Show HG01255.hp2 HG02486.hp1 HG02723.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0016 a0001c0002t0001 a0001c0002t0016	a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0050 others(2): Show a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0050 a0001c0002t0001g0243 a0001c0002t0016g0206	5	334	0.0150	-8	c.343 others(24): Show c.3436-105_3436-98delGTGTGTGT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	21/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30938876	GAGATAGA others(1): Show GAGATAGAT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG02055.hp1 others(7): Show HG00639.hp1 HG01109.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02622.hp2 HG02922.hp2 HG03225.hp2 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0035 a0001c0001t0001g0128 a0001c0001t0001g0130 others(7): Show a0001c0001t0001g0035 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0002g0071 a0001c0001t0016g0129 a0001c0001t0017g0264	10	334	0.0299	-8	c.324 others(27): Show c.3243-2049_3243-2042delATCTATCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	20/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30938900	TAGATAGA others(1): Show TAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(63): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00642.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02896.hp2 HG02922.hp1 HG03239.hp1 HG04184.hp2 NA18612.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19057.hp2 NA19059.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0002t0004 a0001c0002t0023 a0001c0008t0004	a0001c0001t0001g0136 a0001c0001t0002g0040 a0001c0001t0002g0056 others(63): Show a0001c0001t0001g0136 a0001c0001t0002g0040 a0001c0001t0002g0056 a0001c0001t0002g0182 a0001c0001t0005g0059 a0001c0001t0006g0147 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0324 a0001c0001t0006g0325 a0001c0001t0006g0326 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0006g0329 a0001c0001t0012g0122 a0001c0001t0012g0260 a0001c0001t0012g0261 a0001c0001t0014g0270 a0001c0002t0004g0010 a0001c0002t0004g0170 a0001c0002t0004g0172 a0001c0002t0004g0203 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0234 a0001c0002t0004g0235 a0001c0002t0004g0237 a0001c0002t0004g0238 a0001c0002t0004g0239 a0001c0002t0004g0273 a0001c0002t0004g0274 a0001c0002t0004g0275 a0001c0002t0004g0276 a0001c0002t0004g0277 a0001c0002t0004g0278 a0001c0002t0004g0280 a0001c0002t0004g0281 a0001c0002t0004g0282 a0001c0002t0004g0283 a0001c0002t0004g0285 a0001c0002t0004g0286 a0001c0002t0004g0287 a0001c0002t0004g0288 a0001c0002t0004g0289 a0001c0002t0004g0291 a0001c0002t0004g0294 a0001c0002t0004g0295 a0001c0002t0004g0297 a0001c0002t0004g0304 a0001c0002t0004g0311 a0001c0002t0004g0312 a0001c0002t0004g0313 a0001c0002t0004g0315 a0001c0002t0004g0316 a0001c0002t0004g0317 a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0004g0322 a0001c0002t0023g0319 a0001c0008t0004g0171	66	334	0.1976	-8	c.324 others(27): Show c.3243-2073_3243-2066delGTCTATCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	20/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30938904	TAGACAGA others(1): Show TAGACAGAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp2 HG03225.hp1 others(1): Show HG01069.hp1 HG02055.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0010 a0001c0005t0010 a0001c0002t0010 a0001c0005t0010	a0001c0002t0010g0032 a0001c0005t0010g0033 a0001c0005t0010g0034 others(1): Show a0001c0002t0010g0032 a0001c0005t0010g0033 a0001c0005t0010g0034 a0001c0005t0010g0174	4	334	0.0120	-8	c.324 others(27): Show c.3243-2077_3243-2070delGTCTGTCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	20/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30942191	TTATATAT others(1): Show TTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG01361.hp2 others(33): Show HG00408.hp1 HG00423.hp1 HG01361.hp2 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp1 HG02922.hp2 HG03017.hp2 HG03471.hp1 HG03540.hp2 HG03704.hp2 HG04199.hp1 NA18612.hp1 NA18946.hp2 NA18947.hp2 NA18954.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp1 NA18979.hp2 NA18980.hp2 NA18993.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp2 NA19083.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0004 a0001c0002t0015 a0001c0002t0023	a0001c0001t0001g0130 a0001c0001t0001g0187 a0001c0001t0001g0188 others(33): Show a0001c0001t0001g0130 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0240 a0001c0001t0005g0118 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0124 a0001c0002t0001g0053 a0001c0002t0001g0245 a0001c0002t0001g0249 a0001c0002t0001g0301 a0001c0002t0004g0170 a0001c0002t0004g0172 a0001c0002t0004g0203 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0237 a0001c0002t0004g0238 a0001c0002t0004g0273 a0001c0002t0004g0280 a0001c0002t0004g0281 a0001c0002t0004g0283 a0001c0002t0004g0284 a0001c0002t0004g0285 a0001c0002t0004g0289 a0001c0002t0004g0295 a0001c0002t0004g0314 a0001c0002t0004g0316 a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0004g0322 a0001c0002t0015g0269 a0001c0002t0023g0319	36	334	0.1078	-8	c.299 others(23): Show c.2995-76_2995-69delTATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	18/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30952672	AGCGGGGG others(1): Show AGCGGGGGG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19057.hp2 NA19059.hp2 NA18945.hp2 NA19057.hp2 NA19059.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0282 a0001c0002t0004g0291 a0001c0002t0004g0297 a0001c0002t0004g0282 a0001c0002t0004g0291 a0001c0002t0004g0297	3	334	0.0090	-8	c.259 others(25): Show c.2592-317_2592-310delCCCCCCGC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	15/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30999606	CAAAAAAA others(1): Show CAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01109.hp1 others(17): Show HG00140.hp2 HG00639.hp1 HG01109.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02622.hp2 HG02922.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03654.hp1 HG04199.hp2 HG04204.hp2 NA19043.hp2 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0002t0004 a0001c0004t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0035 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0035 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0187 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0002g0071 a0001c0001t0002g0200 a0001c0001t0005g0112 a0001c0001t0005g0115 a0001c0001t0005g0123 a0001c0001t0016g0129 a0001c0001t0017g0264 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0004g0285 a0001c0004t0002g0073 a0001c0004t0002g0141	20	334	0.0599	-8	c.721 others(25): Show c.721-4394_721-4387delTTTTTTTT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	5/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31005791	AAGAGAGA others(1): Show AAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp1 HG03453.hp1 others(2): Show HG02280.hp2 HG03130.hp1 HG03453.hp1 HG03831.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0003 a0001c0006t0008 others(1): Show a0001c0001t0002 a0001c0006t0003 a0001c0006t0008 a0001c0006t0013	a0001c0001t0002g0014 a0001c0001t0002g0067 a0001c0006t0003g0007 others(2): Show a0001c0001t0002g0014 a0001c0001t0002g0067 a0001c0006t0003g0007 a0001c0006t0008g0008 a0001c0006t0013g0009	5	334	0.0150	-8	c.720 others(21): Show c.720+54_720+61delCTCTCTCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	5/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31054535	TAAAAAAA others(1): Show TAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02622.hp2 others(3): Show HG01109.hp1 HG02109.hp2 HG02622.hp2 HG02922.hp2 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0017 a0001c0001t0001 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0035 a0001c0001t0001g0128 a0001c0001t0001g0130 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0187 a0001c0001t0016g0129 a0001c0001t0017g0264	6	334	0.0180	-8	c.363 others(25): Show c.363+4661_363+4668delTTTTTTTT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31056609	CTTTTTTT others(1): Show CTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01175.hp1 HG02071.hp1 others(23): Show HG00438.hp2 HG01175.hp1 HG02071.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG04199.hp2 NA18942.hp1 NA18966.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19059.hp1 NA19060.hp1 NA19065.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0024 a0001c0002t0021 a0001c0004t0002	a0001c0001t0001g0204 a0001c0001t0002g0017 a0001c0001t0002g0038 others(23): Show a0001c0001t0001g0204 a0001c0001t0002g0017 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0138 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0005g0057 a0001c0001t0005g0115 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0175 a0001c0001t0005g0178 a0001c0001t0005g0263 a0001c0001t0007g0066 a0001c0001t0012g0261 a0001c0001t0024g0176 a0001c0002t0021g0030 a0001c0004t0002g0141 a0001c0004t0002g0177	26	334	0.0778	-8	c.363 others(25): Show c.363+2587_363+2594delAAAAAAAA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31067183	CACATATA others(1): Show CACATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02886.hp1 HG03225.hp1 others(1): Show HG01069.hp1 HG02886.hp1 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0010 a0001c0002t0003 a0001c0005t0010	a0001c0002t0003g0310 a0001c0005t0010g0033 a0001c0005t0010g0034 others(1): Show a0001c0002t0003g0310 a0001c0005t0010g0033 a0001c0005t0010g0034 a0001c0005t0010g0174	4	334	0.0120	-8	c.-15 others(19): Show c.-1587_-1580delATATATGT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding		1467		chr1	TogoVar
PUM2_chr2_20243737_20355844	20261394	CAAAAAAA others(1): Show CAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02717.hp1 others(3): Show HG02055.hp1 HG02486.hp1 HG02717.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0011g0340	6	358	0.0168	-8	c.222 others(25): Show c.2226-936_2226-929delTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	14/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20267712	TATGGTCC others(1): Show TATGGTCCA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG01261.hp2 others(1): Show HG01099.hp1 HG01109.hp2 HG01261.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0208 a0001c0001t0003g0241 a0001c0001t0010g0350 others(1): Show a0001c0001t0003g0208 a0001c0001t0003g0241 a0001c0001t0010g0350 a0001c0001t0010g0353	4	358	0.0112	-8	c.195 others(27): Show c.1958-4260_1958-4253delTGGACCAT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20323908	CAAAAAAA others(1): Show CAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02559.hp1 others(4): Show HG01884.hp2 HG01891.hp2 HG02559.hp1 HG02717.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0181	7	358	0.0196	-8	c.51+ others(23): Show c.51+3394_51+3401delTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	2/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20336748	CTGTGTGT others(1): Show CTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00558.hp1 others(14): Show HG00099.hp1 HG00408.hp2 HG00558.hp1 HG01256.hp1 HG02056.hp2 HG02071.hp1 HG02280.hp2 HG02559.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG04228.hp2 NA18612.hp2 NA19058.hp2 NA19080.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0004t0003	a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 others(14): Show a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0215 a0001c0001t0001g0269 a0001c0001t0001g0336 a0001c0001t0003g0178 a0001c0001t0010g0349 a0001c0004t0003g0176	17	358	0.0475	-8	c.-18 others(25): Show c.-18-9378_-18-9371delCACACACA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	1/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20355265	AATTTATT others(1): Show AATTTATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00597.hp1 others(106): Show HG00140.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19060.hp1 NA19063.hp2 NA19067.hp1 NA19070.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0021	a0001c0001t0001g0069 a0001c0001t0001g0143 a0001c0001t0001g0145 others(106): Show a0001c0001t0001g0069 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0267 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0003g0178 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0045 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0061 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0077 a0001c0001t0005g0179 a0001c0001t0005g0199 a0001c0001t0005g0205 a0001c0001t0005g0242 a0001c0001t0006g0341 a0001c0001t0006g0342 a0001c0001t0006g0343 a0001c0001t0006g0345 a0001c0001t0006g0346 a0001c0001t0006g0357 a0001c0001t0006g0358 a0001c0001t0010g0349 a0001c0001t0016g0057 a0001c0001t0016g0058 a0001c0001t0021g0344	109	358	0.3045	-8	c.-46 others(19): Show c.-4695_-4688delAAATAAAT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding		4422		chr2	TogoVar
PUS1_chr12_131924276_131950896	131935858	TTTCTGCT others(1): Show TTTCTGCTG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp1 HG02071.hp2 others(11): Show HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02132.hp1 HG02135.hp2 HG03490.hp1 HG03492.hp2 NA18953.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp1 NA18999.hp1 NA19000.hp2 NA19089.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0010 a0001c0001 a0001c0005 a0005c0010	a0001c0001t0001 a0001c0005t0001 a0005c0010t0001 a0001c0001t0001 a0001c0005t0001 a0005c0010t0001	a0001c0001t0001g0005 a0001c0001t0001g0067 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0005t0001g0005 a0005c0010t0001g0005	14	382	0.0367	-8	c.442 others(25): Show c.442-3312_442-3305delCTGCTGTT	PUS1	ENSG00000177192.14	transcript	ENST00000376649.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PUS7_chr7_105451503_105527271	105496194	CACATATA others(1): Show CACATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02622.hp1 others(2): Show HG02280.hp2 HG02486.hp2 HG02622.hp1 HG02723.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0004t0001g0093	5	350	0.0143	-8	c.731 others(23): Show c.731-949_731-942delATATATGT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	5/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105496196	CATATATA others(1): Show CATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG02615.hp2 others(8): Show HG01074.hp1 HG01081.hp2 HG02615.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp2 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0030 a0001c0001t0001g0198 a0001c0001t0001g0199 others(8): Show a0001c0001t0001g0030 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0224 a0001c0001t0003g0205 a0001c0001t0005g0223	11	350	0.0314	-8	c.731 others(23): Show c.731-951_731-944delATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	5/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105520519	AAAATAAA others(1): Show AAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp1 HG01361.hp1 others(11): Show HG00741.hp1 HG01261.hp1 HG01361.hp1 HG01516.hp1 HG02486.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02976.hp1 HG03130.hp1 HG03490.hp1 NA18522.hp1 NA19064.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0001t0001 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(11): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0004g0333 a0001c0004t0001g0081 a0001c0004t0001g0082	14	350	0.0400	-8	c.-33 others(25): Show c.-33+1525_-33+1532delATTTATTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PVALB_chr22_36795703_36822035	36800320	TCCACCCA others(1): Show TCCACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00642.hp2 others(86): Show HG00423.hp1 HG00558.hp1 HG00642.hp2 HG01069.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02630.hp1 HG03139.hp2 HG03471.hp1 HG03491.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 NA18612.hp1 NA18942.hp1 NA18944.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18991.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0003g0175 a0001c0001t0003g0176 a0002c0002t0001g0070	89	421	0.2114	-8	c.56 others(17): Show c.562_*569delGTGGGTGG	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding		382		chr22	TogoVar
PVALB_chr22_36795703_36822035	36814268	AGTGTGTG others(1): Show AGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG01346.hp1 others(12): Show HG00099.hp1 HG00438.hp2 HG01346.hp1 HG01978.hp2 HG01981.hp1 HG02109.hp2 HG02132.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG04115.hp1 HG06807.hp1 NA18989.hp1 NA19043.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0056 others(9): Show a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0056 a0001c0001t0002g0068 a0001c0001t0002g0083 a0001c0001t0002g0091 a0001c0001t0002g0112 a0001c0001t0002g0160 a0001c0001t0002g0229 a0001c0001t0002g0246 a0001c0001t0002g0256 a0001c0001t0002g0263	15	421	0.0356	-8	c.195 others(23): Show c.195-521_195-514delACACACAC	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding	2/3			chr22	TogoVar
PVALB_chr22_36795703_36822035	36821799	TTTTGTTT others(1): Show TTTTGTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02647.hp1 others(4): Show HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG03041.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0110 others(4): Show a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0231 a0001c0001t0002g0240 a0001c0001t0002g0244	7	421	0.0166	-8	c.-48 others(19): Show c.-4802_-4795delCAAACAAA	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding		4765		chr22	TogoVar
PVR_chr19_44638910_44671162	44642555	CTCTCTCT others(1): Show CTCTCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02258.hp1 others(11): Show HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02818.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0007	a0001c0001t0019 a0001c0001t0046 a0002c0002t0085 others(10): Show a0001c0001t0019 a0001c0001t0046 a0002c0002t0085 a0003c0003t0007 a0003c0003t0045 a0003c0003t0046 a0003c0003t0107 a0003c0003t0108 a0003c0003t0111 a0003c0003t0112 a0003c0003t0113 a0003c0003t0115 a0004c0007t0056	a0001c0001t0019g0226 a0001c0001t0046g0095 a0002c0002t0085g0064 others(11): Show a0001c0001t0019g0226 a0001c0001t0046g0095 a0002c0002t0085g0064 a0003c0003t0007g0033 a0003c0003t0045g0034 a0003c0003t0045g0096 a0003c0003t0046g0097 a0003c0003t0107g0032 a0003c0003t0108g0113 a0003c0003t0111g0032 a0003c0003t0112g0034 a0003c0003t0113g0112 a0003c0003t0115g0033 a0004c0007t0056g0164	14	412	0.0340	-8	c.-15 others(19): Show c.-1541_-1534delTCTCTCTT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1354		chr19	TogoVar
PVR_chr19_44638910_44671162	44645413	GTGTATAT others(1): Show GTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18946.hp2 NA18973.hp2 others(3): Show HG03654.hp1 NA18946.hp2 NA18973.hp2 NA18980.hp1 NA19010.hp2 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0016 a0002c0002t0021 a0002c0002t0006 a0002c0002t0016 a0002c0002t0021	a0002c0002t0006g0008 a0002c0002t0016g0008 a0002c0002t0021g0008 a0002c0002t0006g0008 a0002c0002t0016g0008 a0002c0002t0021g0008	6	412	0.0146	-8	c.79+ others(23): Show c.79+1240_79+1247delGTATATAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44668647	GTATATAA others(1): Show GTATATAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02055.hp1 others(23): Show HG01109.hp2 HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02602.hp1 HG02717.hp1 HG02717.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03654.hp1 HG03831.hp1 NA18945.hp2 NA18949.hp1 NA18951.hp2 NA18973.hp2 NA18980.hp1 NA19005.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp2 NA19079.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0040 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0040 a0001c0001t0048 a0001c0001t0077 a0001c0001t0092 a0001c0001t0094 a0001c0001t0101 a0001c0001t0102 a0001c0001t0120 a0002c0002t0006 a0002c0002t0016 a0003c0003t0007 a0003c0003t0104 a0003c0003t0119	a0001c0001t0002g0003 a0001c0001t0002g0044 a0001c0001t0005g0170 others(20): Show a0001c0001t0002g0003 a0001c0001t0002g0044 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0040g0153 a0001c0001t0048g0165 a0001c0001t0077g0168 a0001c0001t0092g0155 a0001c0001t0094g0154 a0001c0001t0101g0030 a0001c0001t0102g0030 a0001c0001t0120g0149 a0002c0002t0006g0008 a0002c0002t0006g0041 a0002c0002t0006g0129 a0002c0002t0006g0132 a0002c0002t0016g0002 a0002c0002t0016g0008 a0002c0002t0016g0041 a0002c0002t0016g0130 a0003c0003t0007g0014 a0003c0003t0104g0014 a0003c0003t0119g0070	26	412	0.0631	-8	c.68 others(19): Show c.6837_*6844delTATATAAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2486		chr19	TogoVar
PWWP2A_chr5_160086339_160124450	160109757	GAAAAAAA others(1): Show GAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02080.hp2 HG03017.hp1 others(3): Show HG00099.hp2 HG02080.hp2 HG03017.hp1 HG03654.hp2 NA19004.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0037	a0001c0001t0002g0222 a0001c0001t0002g0307 a0001c0001t0003g0221 others(3): Show a0001c0001t0002g0222 a0001c0001t0002g0307 a0001c0001t0003g0221 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0037g0194	6	384	0.0156	-8	c.584 others(25): Show c.584+9040_584+9047delTTTTTTTT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109768	AAAAAAAA others(1): Show AAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02055.hp2 HG02258.hp2 others(14): Show HG01069.hp2 HG02055.hp2 HG02258.hp2 HG02559.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG03130.hp2 HG03225.hp2 HG03516.hp1 HG03710.hp2 HG04204.hp1 NA18949.hp1 NA18964.hp1 NA18998.hp1 NA19005.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0026 a0001c0001t0044 a0001c0007t0004	a0001c0001t0002g0223 a0001c0001t0002g0233 a0001c0001t0002g0308 others(14): Show a0001c0001t0002g0223 a0001c0001t0002g0233 a0001c0001t0002g0308 a0001c0001t0003g0066 a0001c0001t0003g0249 a0001c0001t0003g0265 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0006g0240 a0001c0001t0008g0248 a0001c0001t0015g0263 a0001c0001t0026g0182 a0001c0001t0044g0286 a0001c0007t0004g0264 a0001c0007t0004g0282	17	384	0.0443	-8	c.584 others(25): Show c.584+9029_584+9036delATTTTTTT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109770	AAAAAATA others(1): Show AAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02280.hp1 HG02630.hp1 others(15): Show HG00735.hp2 HG02280.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02895.hp2 HG02896.hp2 HG03834.hp2 NA18522.hp1 NA18954.hp1 NA18954.hp2 NA18973.hp2 NA18993.hp1 NA18994.hp1 NA19011.hp1 NA19056.hp2 NA19083.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0011 a0001c0001 a0001c0003 a0005c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0003t0006 a0005c0011t0006	a0001c0001t0002g0211 a0001c0001t0002g0231 a0001c0001t0002g0309 others(15): Show a0001c0001t0002g0211 a0001c0001t0002g0231 a0001c0001t0002g0309 a0001c0001t0003g0052 a0001c0001t0003g0224 a0001c0001t0003g0268 a0001c0001t0003g0292 a0001c0001t0004g0239 a0001c0001t0004g0253 a0001c0001t0004g0269 a0001c0001t0004g0291 a0001c0001t0009g0287 a0001c0001t0010g0295 a0001c0001t0011g0225 a0001c0001t0014g0254 a0001c0001t0014g0255 a0001c0003t0006g0276 a0005c0011t0006g0067	18	384	0.0469	-8	c.584 others(25): Show c.584+9027_584+9034delATATTTTT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2B_chr10_132392200_132422859	132409628	ACCACCCA others(1): Show ACCACCCAC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG00735.hp2 others(47): Show HG00621.hp2 HG00673.hp1 HG00735.hp2 HG01175.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03471.hp1 HG03516.hp2 HG03942.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18951.hp2 NA18954.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19030.hp1 NA19057.hp1 NA19083.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0011 a0001c0021 others(7): Show a0001c0001 a0001c0011 a0001c0021 a0002c0002 a0003c0004 a0003c0005 a0003c0010 a0003c0013 a0003c0019 a0004c0006	a0001c0001t0001 a0001c0011t0001 a0001c0021t0001 others(7): Show a0001c0001t0001 a0001c0011t0001 a0001c0021t0001 a0002c0002t0001 a0003c0004t0001 a0003c0005t0001 a0003c0010t0001 a0003c0013t0001 a0003c0019t0001 a0004c0006t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0011t0001g0051 others(35): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0011t0001g0051 a0001c0011t0001g0223 a0001c0021t0001g0180 a0002c0002t0001g0100 a0003c0004t0001g0004 a0003c0004t0001g0011 a0003c0004t0001g0026 a0003c0004t0001g0051 a0003c0004t0001g0054 a0003c0004t0001g0055 a0003c0004t0001g0056 a0003c0004t0001g0066 a0003c0004t0001g0079 a0003c0004t0001g0113 a0003c0004t0001g0117 a0003c0004t0001g0120 a0003c0004t0001g0125 a0003c0004t0001g0126 a0003c0004t0001g0139 a0003c0004t0001g0140 a0003c0004t0001g0198 a0003c0004t0001g0202 a0003c0004t0001g0203 a0003c0004t0001g0236 a0003c0005t0001g0018 a0003c0005t0001g0238 a0003c0005t0001g0249 a0003c0005t0001g0251 a0003c0005t0001g0256 a0003c0010t0001g0080 a0003c0010t0001g0081 a0003c0010t0001g0082 a0003c0010t0001g0206 a0003c0013t0001g0196 a0003c0019t0001g0095 a0004c0006t0001g0064	50	374	0.1337	-8	c.16 others(25): Show c.16+3360_*16+3367delCCACCCAC	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132415637	ACACCCAC others(1): Show ACACCCACT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp2 others(40): Show HG00280.hp1 HG00408.hp2 HG00544.hp2 HG00642.hp2 HG01109.hp2 HG01123.hp2 HG01358.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG03492.hp1 HG03654.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 NA18522.hp2 NA18962.hp1 NA18984.hp2 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0003c0010 a0004c0006	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0003c0010t0001 a0004c0006t0001	a0001c0001t0001g0019 a0001c0001t0001g0060 a0001c0001t0001g0182 others(26): Show a0001c0001t0001g0019 a0001c0001t0001g0060 a0001c0001t0001g0182 a0001c0001t0001g0253 a0002c0002t0001g0037 a0002c0002t0001g0149 a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0016 a0002c0003t0001g0032 a0002c0003t0001g0035 a0002c0003t0001g0037 a0002c0003t0001g0042 a0002c0003t0001g0049 a0002c0003t0001g0109 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0128 a0002c0003t0001g0170 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0178 a0003c0010t0001g0080 a0003c0010t0001g0081 a0003c0010t0001g0082 a0003c0010t0001g0206 a0004c0006t0001g0166	43	374	0.1150	-8	c.17 others(25): Show c.17-1420_*17-1413delCCACTCAC	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
PWWP3B_chrX_106163305_106213956	106212475	TGATAGAT others(1): Show TGATAGATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00642.hp1 others(54): Show HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp1 HG03225.hp1 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp1 NA18522.hp1 NA18944.hp1 NA18950.hp1 NA18962.hp1 NA18977.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19043.hp1 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0005t0001 a0001c0009t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0002g0014 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0005g0036 a0001c0001t0006g0054 a0001c0001t0007g0113 a0001c0005t0001g0140 a0001c0009t0008g0132	57	248	0.2298	-8	c.49 others(19): Show c.4953_*4960delGATAGATA	PWWP3B	ENSG00000157502.13	transcript	ENST00000357175.6	protein_coding		3520		chrX	TogoVar
PWWP3B_chrX_106163305_106213956	106213829	GATAAATA others(1): Show GATAAATAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02630.hp2 others(2): Show HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0048 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049	5	248	0.0202	-8	c.63 others(19): Show c.6307_*6314delATAAATAA	PWWP3B	ENSG00000157502.13	transcript	ENST00000357175.6	protein_coding		4874		chrX	TogoVar
PWWP4_chrX_153261152_153284145	153269146	CGTGTGTG others(1): Show CGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0019 a0005c0006t0002g0019	1	141	0.0071	-8	c.-39 others(27): Show c.-393+1146_-393+1153delTGTGTGTG	PWWP4	ENSG00000278803.3	transcript	ENST00000458091.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PWWP4_chrX_153261152_153284145	153269188	TGTGTGTG others(1): Show TGTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0048 a0048	a0048c0016 a0048c0016	a0048c0016t0009 a0048c0016t0009	a0048c0016t0009g0026 a0048c0016t0009g0026	1	141	0.0071	-8	c.-39 others(27): Show c.-393+1147_-393+1154delGTGTGTGG	PWWP4	ENSG00000278803.3	transcript	ENST00000458091.5	protein_coding	2/3			chrX	TogoVar

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