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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PAK5_chr20_9532370_9844076	9766478	TATATATA others(10): Show TATATATATTCAAGCAGA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0151 a0001c0005t0010g0151	1	206	0.0049	-17	c.-16 others(38): Show c.-161-55060_-161-55044delTCTGCTTGAATATATAT		PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9						chr20	TogoVar
PALLD_chr4_168492052_168933441	168750122	ATTTTTGT others(10): Show ATTTTTGTAGAGACGGCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02040.hp1 HG02055.hp2 others(15): Show HG00597.hp1 HG02040.hp1 HG02055.hp2 HG02258.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03486.hp2 NA18972.hp1 NA18989.hp1 NA19001.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19043.hp2 NA19068.hp2 NA19077.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0019 a0002c0003 a0002c0010 a0002c0018	a0001c0001t0001 a0001c0001t0022 a0001c0002t0010 others(12): Show a0001c0001t0001 a0001c0001t0022 a0001c0002t0010 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0011 a0001c0004t0018 a0001c0019t0006 a0002c0003t0005 a0002c0003t0006 a0002c0010t0001 a0002c0010t0004 a0002c0018t0007	a0001c0001t0001g0001 a0001c0001t0001g0078 a0001c0001t0022g0146 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0078 a0001c0001t0022g0146 a0001c0002t0010g0093 a0001c0004t0002g0108 a0001c0004t0002g0118 a0001c0004t0002g0119 a0001c0004t0003g0020 a0001c0004t0005g0148 a0001c0004t0006g0092 a0001c0004t0011g0126 a0001c0004t0018g0021 a0001c0019t0006g0150 a0002c0003t0005g0120 a0002c0003t0006g0144 a0002c0010t0001g0082 a0002c0010t0004g0026 a0002c0018t0007g0012	18	154	0.1169	-17	c.196 others(38): Show c.1964+38203_1964+38219delTTGTAGAGACGGCGTTT		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168759203	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	131	0.0076	-17	c.196 others(38): Show c.1964+47281_1964+47297delTATATATATATATATAT		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21						chr4	TogoVar
PALLD_chr4_168492052_168933441	168838667	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	69	0.0145	-17	c.196 others(38): Show c.1965-52245_1965-52229delTTTTTTTTTTTTTTTTT		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110002408	CACATCAA others(10): Show CACATCAAATAAAATACT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp2 HG02886.hp2 others(3): Show HG01109.hp1 HG02451.hp2 HG02886.hp2 HG03471.hp1 HG03486.hp1 NA18522.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0008c0010	a0001c0001t0001 a0001c0001t0008 a0001c0006t0007 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0006t0007 a0001c0007t0001 a0008c0010t0012	a0001c0001t0001g0202 a0001c0001t0001g0222 a0001c0001t0008g0049 others(3): Show a0001c0001t0001g0202 a0001c0001t0001g0222 a0001c0001t0008g0049 a0001c0006t0007g0175 a0001c0007t0001g0178 a0008c0010t0012g0045	6	220	0.0273	-17	c.497 others(36): Show c.497-13545_497-13529delACATCAAATAAAATACT		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10						chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110010520	TTATATAA others(10): Show TTATATAAATTCTCTACA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18522.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0222 a0001c0001t0008g0049 a0001c0001t0001g0222 a0001c0001t0008g0049	2	220	0.0091	-17	c.497 others(34): Show c.497-5421_497-5405delCTACATATATAAATTCT		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110010638	ATATAGAA others(10): Show ATATAGAATACTTAAATT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18522.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0222 a0001c0001t0008g0049 a0001c0001t0001g0222 a0001c0001t0008g0049	2	220	0.0091	-17	c.497 others(34): Show c.497-5299_497-5283delTTATAGAATACTTAAAT		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110014800	AAAAATGT others(10): Show AAAAATGTATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG01891.hp1 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0031 a0002c0004t0002 a0001c0001t0031 a0002c0004t0002	a0001c0001t0031g0177 a0002c0004t0002g0220 a0001c0001t0031g0177 a0002c0004t0002g0220	2	194	0.0103	-17	c.497 others(34): Show c.497-1152_497-1136delAAATGTATATATATATA		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110014802	AAATGTAT others(10): Show AAATGTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18944.hp2 NA18960.hp2 HG03017.hp2 NA18944.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0090 a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0090	3	140	0.0214	-17	c.497 others(34): Show c.497-1150_497-1134delATGTATATATATATATA		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM3_chr19_14048367_14067076	14067040	AATATATT others(10): Show AATATATTAATATATTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01192.hp1 HG01891.hp2 others(17): Show HG00639.hp1 HG01192.hp1 HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp1 HG03041.hp1 HG03579.hp2 HG03927.hp2 HG06807.hp2 NA19043.hp1 NA20129.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0006 a0001c0012 others(3): Show a0001c0001 a0001c0006 a0001c0012 a0002c0003 a0003c0002 a0010c0014	a0001c0001t0001 a0001c0006t0001 a0001c0012t0001 others(5): Show a0001c0001t0001 a0001c0006t0001 a0001c0012t0001 a0002c0003t0002 a0003c0002t0001 a0003c0002t0002 a0010c0014t0001 a0010c0014t0002	a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0124 others(10): Show a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0124 a0001c0006t0001g0013 a0001c0012t0001g0027 a0002c0003t0002g0012 a0003c0002t0001g0076 a0003c0002t0002g0005 a0003c0002t0002g0038 a0003c0002t0002g0075 a0010c0014t0001g0078 a0010c0014t0002g0074 a0010c0014t0002g0077	20	436	0.0459	-17	c.-50 others(28): Show c.-5077_-5061delATAATATATTAATATAT		PALM3	ENSG00000187867.10	transcript	ENST00000669674.2	protein_coding					4965		chr19	TogoVar
PALS1_chr14_67236435_67341061	67284547	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0019 a0004c0005t0019	a0004c0005t0019g0288 a0004c0005t0019g0288	1	137	0.0073	-17	c.367 others(34): Show c.367+5035_367+5051delAAAAAAAAAAAAAAAAA		PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr14	TogoVar
PAMR1_chr11_35426827_35530616	35502803	TGATTGTT others(10): Show TGATTGTTTCCTTTGCTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp2 others(142): Show HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0011 a0012 a0013 a0014 a0017 a0019	a0001c0001 a0001c0003 a0002c0002 others(12): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0003c0018 a0004c0007 a0005c0006 a0007c0010 a0009c0021 a0011c0022 a0012c0011 a0013c0009 a0014c0012 a0017c0014 a0019c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0002c0002t0003 a0003c0004t0003 a0003c0018t0003 a0004c0007t0001 a0005c0006t0001 a0005c0006t0002 a0007c0010t0001 a0009c0021t0002 a0011c0022t0001 a0012c0011t0003 a0013c0009t0001 a0014c0012t0003 a0017c0014t0001 a0019c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(136): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0280 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0369 a0001c0001t0002g0001 a0001c0001t0002g0032 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0139 a0001c0001t0002g0155 a0001c0001t0002g0189 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0309 a0001c0001t0003g0047 a0001c0001t0003g0079 a0001c0001t0003g0100 a0001c0001t0003g0156 a0001c0003t0002g0013 a0001c0003t0002g0030 a0001c0003t0002g0051 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0115 a0002c0002t0003g0009 a0002c0002t0003g0011 a0002c0002t0003g0016 a0002c0002t0003g0114 a0002c0002t0003g0123 a0002c0002t0003g0297 a0003c0004t0003g0070 a0003c0004t0003g0072 a0003c0004t0003g0099 a0003c0004t0003g0144 a0003c0004t0003g0282 a0003c0018t0003g0120 a0004c0007t0001g0117 a0005c0006t0001g0046 a0005c0006t0001g0311 a0005c0006t0002g0036 a0007c0010t0001g0010 a0009c0021t0002g0034 a0011c0022t0001g0116 a0012c0011t0003g0075 a0013c0009t0001g0140 a0014c0012t0003g0281 a0017c0014t0001g0039 a0019c0015t0001g0119	145	376	0.3856	-17	c.74- others(32): Show c.74-8548_74-8532delCAGCAAAGGAAACAATC		PAMR1	ENSG00000149090.13	transcript	ENST00000619888.5	protein_coding	1/10						chr11	TogoVar
PAM_chr5_102750305_103034716	102794928	ACCTGTAA others(10): Show ACCTGTAATCCTAGCACT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG01496.hp2 others(18): Show HG00642.hp2 HG01123.hp1 HG01496.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02486.hp2 HG03486.hp1 HG03540.hp2 NA18747.hp1 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18981.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19064.hp2 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 a0005c0009t0002	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(18): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0085 a0001c0001t0002g0108 a0001c0001t0007g0022 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0075 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0110 a0005c0009t0002g0011	21	186	0.1129	-17	c.-37 others(38): Show c.-374+39582_-374+39598delCTGTAATCCTAGCACTC		PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
PANK2_chr20_3884387_3934887	3918770	TTGAAAGC others(10): Show TTGAAAGCACTTTTTTCG	T T	frameshift_variant frameshift_variant	HIGH	HG04115.hp2 HG04115.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0058 a0004c0008t0058	a0004c0008t0058g0140 a0004c0008t0058g0140	1	420	0.0024	-17	c.130 others(26): Show c.1307_1323delTGAAAGCACTTTTTTCG	p.Leu others(5): Show p.Leu436fs	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding	6/7	1351/8020	1307/1383	436/460			chr20	TogoVar
PAPOLB_chr7_4852738_4867030	4855055	TGCTTTTC others(10): Show TGCTTTTCCCTCAACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	436	0.0023	-17	c.48 others(28): Show c.4825_*4841delCATGTTGAGGGAAAAGC		PAPOLB	ENSG00000218823.2	transcript	ENST00000404991.2	protein_coding					2682		chr7	TogoVar
PAPPA2_chr1_176458175_176850601	176781365	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0004 a0010c0012t0004	a0010c0012t0004g0096 a0010c0012t0004g0096	1	20	0.0500	-17	c.471 others(36): Show c.4716-8427_4716-8411delTTTTTTTTTTTTTTTTT		PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	17/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA_chr9_116148791_116407321	116213455	GATTCCCA others(10): Show GATTCCCACTGGGCTCCC	G G	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0076 a0001c0002t0008g0076	1	232	0.0043	-17	c.191 others(36): Show c.1918+1531_1918+1547delCTGGGCTCCCATTCCCA		PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	4/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPPA_chr9_116148791_116407321	116277930	AGTGCTGG others(10): Show AGTGCTGGGATTACAGGC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0032 a0002c0016t0032	a0002c0016t0032g0011 a0002c0016t0032g0011	1	232	0.0043	-17	c.295 others(36): Show c.2953+6518_2953+6534delCTGGGATTACAGGCGTG		PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPPA_chr9_116148791_116407321	116314060	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 NA18522.hp2 HG02622.hp2 HG02630.hp1 NA18522.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0024 a0005c0025 a0001c0001 a0005c0024 a0005c0025	a0001c0001t0006 a0005c0024t0012 a0005c0025t0055 a0001c0001t0006 a0005c0024t0012 a0005c0025t0055	a0001c0001t0006g0170 a0005c0024t0012g0024 a0005c0025t0055g0020 a0001c0001t0006g0170 a0005c0024t0012g0024 a0005c0025t0055g0020	3	106	0.0283	-17	c.314 others(38): Show c.3147+11124_3147+11140delTTTTTTTTTTTTTTTTT		PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPSS2_chr10_87654878_87752705	87676872	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0318 a0001c0001t0036g0318	1	63	0.0159	-17	c.27+ others(34): Show c.27+16887_27+16903delAAAAAAAAAAAAAAAAA		PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300879	TTCTTTCT others(10): Show TTCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0095 a0001c0003t0003g0095	1	280	0.0036	-17	c.-27 others(36): Show c.-277+1824_-277+1840delTCTTTCTTTCTTTCTTC		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8						chr15	TogoVar
PAQR5_chr15_69293912_69412780	69355277	CTCTTTCT others(10): Show CTCTTTCTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	282	0.0035	-17	c.-11 others(36): Show c.-115-4675_-115-4659delTCTTTCTTTCTTTCTTT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	205054426	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0003 a0007c0028t0003	a0007c0028t0003g0007 a0007c0028t0003g0007	1	48	0.0208	-17	c.504 others(34): Show c.504+6738_504+6754delATATATATATTTTTTTT		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205126752	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0011 a0008c0014t0001g0011	1	9	0.1111	-17	c.143 others(36): Show c.1434+1034_1434+1050delAAAAAAAAAAAAAAAAA		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	10/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205133688	TGTGCCTT others(10): Show TGTGCCTTTTTGGCTATG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0021 a0003c0010t0006g0021	1	54	0.0185	-17	c.143 others(36): Show c.1434+7952_1434+7968delGTGCCTTTTTGGCTATG		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	10/22						chr2	TogoVar
PARD3B_chr2_204540475_205625162	205322889	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0016 a0002c0004t0014g0016	1	2	0.5000	-17	c.263 others(38): Show c.2630+21214_2630+21230delTTTTTTTTTTTTTTTTT		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380633	ATTATATA others(10): Show ATTATATATTATATAAAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0046 a0001c0003t0016g0046	1	44	0.0227	-17	c.263 others(38): Show c.2631-20379_2631-20363delTTATATATTATATAAAG		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22						chr2	TogoVar
PARD3_chr10_34104561_34820296	34309548	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01109.hp1 others(1): Show HG00735.hp1 HG01099.hp1 HG01109.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0001t0001 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0084 a0001c0001t0005g0098 a0001c0002t0002g0002 others(1): Show a0001c0001t0001g0084 a0001c0001t0005g0098 a0001c0002t0002g0002 a0001c0002t0002g0005	4	29	0.1379	-17	c.306 others(36): Show c.3065+7542_3065+7558delTTTTTTTTTTTTTTTTT		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	20/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34371516	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0031 a0001c0002t0007g0031	1	98	0.0102	-17	c.170 others(34): Show c.1707+965_1707+981delGTTTTTTTTTTTTTTTT		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	12/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34447480	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02818.hp2 others(4): Show HG01243.hp1 HG02145.hp2 HG02818.hp2 HG03139.hp2 HG03471.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0012 a0001c0002t0003 others(2): Show a0001c0001t0003 a0001c0001t0012 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001	a0001c0001t0003g0055 a0001c0001t0012g0052 a0001c0002t0003g0071 others(4): Show a0001c0001t0003g0055 a0001c0001t0012g0052 a0001c0002t0003g0071 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0003t0001g0070	7	12	0.5833	-17	c.714 others(34): Show c.714+2820_714+2836delTTTTTTTTTTTTTTTTT		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	5/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34605971	CTATATCT others(10): Show CTATATCTCCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00735.hp1 others(25): Show HG00099.hp1 HG00544.hp1 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01358.hp2 HG02083.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp2 HG02818.hp2 HG02896.hp2 HG03098.hp2 HG03139.hp2 HG03486.hp1 HG03688.hp1 HG03704.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0011 a0003c0012 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 a0001c0003t0014 a0001c0003t0019 a0001c0004t0002 a0001c0010t0002 a0001c0011t0002 a0003c0012t0013 a0004c0007t0008	a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0084 others(25): Show a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0084 a0001c0001t0004g0019 a0001c0001t0005g0098 a0001c0001t0015g0008 a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0003g0071 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0020g0060 a0001c0003t0001g0062 a0001c0003t0001g0070 a0001c0003t0002g0010 a0001c0003t0008g0046 a0001c0003t0010g0042 a0001c0003t0010g0045 a0001c0003t0014g0009 a0001c0003t0019g0089 a0001c0004t0002g0003 a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0010t0002g0026 a0001c0011t0002g0011 a0003c0012t0013g0097 a0004c0007t0008g0043	28	30	0.9333	-17	c.223 others(36): Show c.223-88829_223-88813delTATATATAGGAGATATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34681754	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0014 a0001c0019t0002g0014	1	95	0.0105	-17	c.222 others(36): Show c.222+14547_222+14563delAAATATATATATATATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARG_chr10_49813279_49947027	49824619	ATACTCAC others(10): Show ATACTCACACCACAAGTG	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	290	0.0034	-17	c.264 others(36): Show c.2648-4343_2648-4327delCACTTGTGGTGTGAGTA		PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	16/17						chr10	TogoVar
PARN_chr16_14430701_14635260	14472655	CTAGTAAT others(10): Show CTAGTAATAAGAGCAATG	C C	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	168	0.0060	-17	c.167 others(36): Show c.1670+9966_1670+9982delCATTGCTCTTATTACTA		PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	22/23						chr16	TogoVar
PARP10_chr8_143972158_143991460	143980319	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0267 a0002c0002t0002g0267	1	125	0.0080	-17	c.255 others(36): Show c.2557-2255_2557-2239delTTTTTTTTTTTTTTTTT		PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10						chr8	TogoVar
PARP12_chr7_140018749_140067951	140024472	TAAAAGTT others(10): Show TAAAAGTTTCTGTTTAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0089 a0001c0001t0007g0089	1	358	0.0028	-17	c.71 others(24): Show c.71_*87delTTTAAACAGAAACTTTT		PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	12/12				71		chr7	TogoVar
PARP15_chr3_122572650_122644047	122582747	TTCTCCTG others(10): Show TTCTCCTGTACCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00621.hp2 others(57): Show HG00323.hp2 HG00438.hp1 HG00621.hp2 HG00741.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01943.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02451.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp2 NA18959.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18980.hp1 NA18988.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19056.hp2 NA19062.hp1 NA19067.hp2 NA19079.hp2 NA19089.hp2	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0014 a0020 a0028 a0032	a0001c0008 a0005c0005 a0005c0029 others(7): Show a0001c0008 a0005c0005 a0005c0029 a0005c0030 a0005c0031 a0006c0006 a0014c0015 a0020c0032 a0028c0027 a0032c0028	a0001c0008t0004 a0005c0005t0001 a0005c0005t0005 others(17): Show a0001c0008t0004 a0005c0005t0001 a0005c0005t0005 a0005c0005t0006 a0005c0005t0007 a0005c0005t0011 a0005c0005t0015 a0005c0005t0032 a0005c0029t0009 a0005c0030t0034 a0005c0031t0004 a0006c0006t0002 a0006c0006t0003 a0006c0006t0006 a0006c0006t0007 a0006c0006t0013 a0014c0015t0001 a0020c0032t0046 a0028c0027t0024 a0032c0028t0017	a0001c0008t0004g0282 a0001c0008t0004g0283 a0005c0005t0001g0254 others(57): Show a0001c0008t0004g0282 a0001c0008t0004g0283 a0005c0005t0001g0254 a0005c0005t0001g0285 a0005c0005t0001g0289 a0005c0005t0001g0294 a0005c0005t0001g0299 a0005c0005t0001g0300 a0005c0005t0001g0303 a0005c0005t0001g0307 a0005c0005t0001g0310 a0005c0005t0001g0313 a0005c0005t0001g0319 a0005c0005t0001g0320 a0005c0005t0001g0321 a0005c0005t0001g0327 a0005c0005t0001g0329 a0005c0005t0001g0331 a0005c0005t0001g0334 a0005c0005t0001g0338 a0005c0005t0005g0335 a0005c0005t0005g0339 a0005c0005t0006g0333 a0005c0005t0007g0288 a0005c0005t0007g0293 a0005c0005t0011g0284 a0005c0005t0011g0295 a0005c0005t0011g0296 a0005c0005t0015g0297 a0005c0005t0032g0312 a0005c0029t0009g0336 a0005c0030t0034g0328 a0005c0031t0004g0332 a0006c0006t0002g0290 a0006c0006t0002g0291 a0006c0006t0002g0304 a0006c0006t0002g0306 a0006c0006t0002g0308 a0006c0006t0002g0309 a0006c0006t0002g0311 a0006c0006t0002g0316 a0006c0006t0002g0322 a0006c0006t0002g0330 a0006c0006t0002g0342 a0006c0006t0002g0343 a0006c0006t0003g0286 a0006c0006t0003g0287 a0006c0006t0003g0314 a0006c0006t0003g0315 a0006c0006t0006g0302 a0006c0006t0006g0305 a0006c0006t0006g0317 a0006c0006t0006g0323 a0006c0006t0007g0292 a0006c0006t0013g0298 a0014c0015t0001g0318 a0014c0015t0001g0326 a0020c0032t0046g0337 a0028c0027t0024g0325 a0032c0028t0017g0324	60	354	0.1695	-17	c.186 others(34): Show c.186+4899_186+4915delCTGTACCTTCCTCTCTC		PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP2_chr14_20338635_20362904	20347384	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG02630.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0096 a0001c0002t0001g0038 a0001c0001t0001g0096 a0001c0002t0001g0038	2	412	0.0049	-17	c.324 others(32): Show c.324+473_324+489delATATATATATATATTTT		PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP6_chr15_72236181_72277554	72255784	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01192.hp1 HG01884.hp1 others(22): Show HG01168.hp2 HG01192.hp1 HG01884.hp1 HG02055.hp2 HG02083.hp2 HG02615.hp1 HG02622.hp1 HG02809.hp2 HG02976.hp2 HG03041.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA18942.hp2 NA18946.hp1 NA18947.hp2 NA18960.hp2 NA18963.hp2 NA18971.hp1 NA19001.hp1 NA19068.hp1 NA19080.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0057 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186	25	33	0.7576	-17	c.112 others(34): Show c.1125+664_1125+680delAAAAAAAAAAAAAAAAA		PARP6	ENSG00000137817.17	transcript	ENST00000569795.6	protein_coding	14/23						chr15	TogoVar
PARPBP_chr12_102115183_102202520	102131934	TGGCTAAT others(10): Show TGGCTAATGCCTGTAATC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	342	0.0029	-17	c.153 others(34): Show c.153+7894_153+7910delGGCTAATGCCTGTAATC		PARPBP	ENSG00000185480.12	transcript	ENST00000327680.7	protein_coding	2/10						chr12	TogoVar
PASD1_chrX_151558675_151681739	151559866	TAGCATGA others(10): Show TAGCATGACATCTCTCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0217 a0001c0003t0003g0217	1	219	0.0046	-17	c.-40 others(28): Show c.-4000_-3984delAGCATGACATCTCTCCA		PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding					3808		chrX	TogoVar
PATJ_chr1_61737480_62168915	61965121	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03471.hp1 HG02280.hp1 HG03471.hp1	a0002 a0055 a0002 a0055	a0002c0029 a0055c0066 a0002c0029 a0055c0066	a0002c0029t0002 a0055c0066t0002 a0002c0029t0002 a0055c0066t0002	a0002c0029t0002g0132 a0055c0066t0002g0123 a0002c0029t0002g0132 a0055c0066t0002g0123	2	21	0.0952	-17	c.367 others(38): Show c.3671-25023_3671-25007delAAAAAAAAAAAAAAAAA		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43					INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62125247	AAAAAAAC others(10): Show AAAAAAACAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02559.hp1 HG03516.hp1 HG01978.hp1 HG02559.hp1 HG03516.hp1	a0007 a0020 a0022 a0007 a0020 a0022	a0007c0013 a0020c0127 a0022c0036 a0007c0013 a0020c0127 a0022c0036	a0007c0013t0014 a0020c0127t0006 a0022c0036t0006 a0007c0013t0014 a0020c0127t0006 a0022c0036t0006	a0007c0013t0014g0156 a0020c0127t0006g0031 a0022c0036t0006g0145 a0007c0013t0014g0156 a0020c0127t0006g0031 a0022c0036t0006g0145	3	150	0.0200	-17	c.504 others(36): Show c.5043+2196_5043+2212delCAAAAAAAAACAAAAAA		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	39/43					INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59652064	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG02056.hp1 others(7): Show HG00642.hp2 HG01123.hp1 HG02056.hp1 HG02559.hp1 HG02735.hp2 HG02818.hp1 HG02896.hp1 HG02976.hp1 NA18948.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0004 a0001c0010t0014 a0001c0001t0004 a0001c0010t0014	a0001c0001t0004g0012 a0001c0001t0004g0168 a0001c0001t0004g0195 others(5): Show a0001c0001t0004g0012 a0001c0001t0004g0168 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0010t0014g0209	10	36	0.2778	-17	c.142 others(34): Show c.1426+383_1426+399delTTTTTTTTTTTTTTTTT		PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	11/18						chr11	TogoVar
PAWR_chr12_79579879_79695964	79639869	TATTCCTA others(10): Show TATTCCTATTCCTATTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp1 HG03688.hp1 HG02145.hp1 HG02976.hp1 HG03688.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0005c0007t0033 a0005c0007t0034 a0001c0001t0002 a0005c0007t0033 a0005c0007t0034	a0001c0001t0002g0080 a0005c0007t0033g0255 a0005c0007t0034g0254 a0001c0001t0002g0080 a0005c0007t0033g0255 a0005c0007t0034g0254	3	246	0.0122	-17	c.517 others(36): Show c.517-18679_517-18663delGGAATAGGAATAGGAAT		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79639975	TCTAAGCG others(10): Show TCTAAGCGCAACCACCAC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0246 a0002c0002t0005g0246	1	254	0.0039	-17	c.517 others(36): Show c.517-18785_517-18769delGTGGTGGTTGCGCTTAG		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6						chr12	TogoVar
PAX3_chr2_222194887_222303998	222209696	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	3	0.3333	-17	c.117 others(36): Show c.1174-7523_1174-7507delTTTTTTTTTTTTTTTTT		PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	7/8						chr2	TogoVar
PAX5_chr9_36828269_37039268	36870086	AAATGGAT others(10): Show AAATGGATGGATGGATGG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0201 a0001c0002t0006g0201	1	269	0.0037	-17	c.101 others(38): Show c.1012+11901_1012+11917delCCATCCATCCATCCATT		PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	8/9						chr9	TogoVar
PAX5_chr9_36828269_37039268	36924731	AGGTGGAA others(10): Show AGGTGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02896.hp2 HG02897.hp1 HG02280.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0012 a0001c0002t0011 a0001c0002t0012	a0001c0002t0011g0235 a0001c0002t0012g0233 a0001c0002t0012g0234 a0001c0002t0011g0235 a0001c0002t0012g0233 a0001c0002t0012g0234	3	125	0.0240	-17	c.781 others(34): Show c.781-1264_781-1248delCCTTCCTTCCTTCCACC		PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	6/9						chr9	TogoVar
PAX6_chr11_31784026_31816322	31794453	CACACACA others(10): Show CACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0209 a0001c0001t0013g0209	1	374	0.0027	-17	c.724 others(32): Show c.724+160_724+176delTGTGTGTGTGTGTGTGT		PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding	9/13						chr11	TogoVar

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