Joint Open Genome and Omics Platform (JoGo)

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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
PALLD_chr4_168492052_168933441	168759202	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0093 a0001c0002t0010g0093	1	156	0.0064	-20	c.196 others(41): Show c.1964+47303_1964+47322delTATATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168816817	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18522.hp1 NA19077.hp2 HG02040.hp1 NA18522.hp1 NA19077.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0023 a0001c0001 a0008c0023	a0001c0001t0001 a0008c0023t0001 a0001c0001t0001 a0008c0023t0001	a0001c0001t0001g0078 a0001c0001t0001g0086 a0008c0023t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0086 a0008c0023t0001g0056	3	156	0.0192	-20	c.196 others(41): Show c.1965-74068_1965-74049delGTGTGTGTGTGTGTGTGTGT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168819327	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0016 a0002c0015t0016	a0002c0015t0016g0035 a0002c0015t0016g0035	1	156	0.0064	-20	c.196 others(41): Show c.1965-71578_1965-71559delTGTGTGTGTGTGTGTGTGTG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168832671	CCCCGACC others(13): Show CCCCGACCTGAGCCGAGCCCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0021 a0001c0004t0018g0021	1	156	0.0064	-20	c.196 others(41): Show c.1965-58247_1965-58228delGACCTGAGCCGAGCCCTCCC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109844952	TGTGTGTG others(13): Show TGTGTGTGCATGTGCACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0194 a0005c0008t0006g0194	1	222	0.0045	-20	c.46- others(37): Show c.46-22537_46-22518delTGTGTGCATGTGCACACACG	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110014801	AAAATGTA others(13): Show AAAATGTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19011.hp1 NA19090.hp1 NA18999.hp2 NA19011.hp1 NA19090.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0035 a0003c0003t0001 a0002c0002t0001 a0002c0002t0035 a0003c0003t0001	a0002c0002t0001g0054 a0002c0002t0035g0072 a0003c0003t0001g0076 a0002c0002t0001g0054 a0002c0002t0035g0072 a0003c0003t0001g0076	3	222	0.0135	-20	c.497 others(37): Show c.497-1151_497-1132delAATGTATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110032691	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp2 HG01074.hp1 others(39): Show HG00423.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01433.hp2 HG01516.hp2 HG01975.hp1 HG01978.hp2 HG02055.hp2 HG02056.hp2 HG02155.hp2 HG02602.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG04115.hp2 HG04199.hp1 NA18747.hp1 NA18942.hp1 NA18944.hp2 NA18968.hp2 NA18971.hp2 NA18982.hp1 NA18982.hp2 NA18989.hp1 NA18990.hp1 NA19002.hp1 NA19060.hp1 NA19062.hp1 NA19080.hp1 NA19080.hp2 NA19086.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0013 a0015	a0001c0001 a0002c0002 a0002c0004 others(5): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0003c0021 a0004c0005 a0013c0019 a0015c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0030 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0017 a0002c0002t0021 a0002c0002t0035 a0002c0004t0001 a0002c0004t0002 a0003c0003t0001 a0003c0021t0001 a0004c0005t0002 a0013c0019t0001 a0015c0014t0004	a0001c0001t0001g0028 a0001c0001t0001g0061 a0001c0001t0001g0085 others(39): Show a0001c0001t0001g0028 a0001c0001t0001g0061 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0002g0071 a0001c0001t0002g0096 a0001c0001t0002g0113 a0001c0001t0002g0135 a0001c0001t0005g0108 a0001c0001t0009g0069 a0001c0001t0030g0045 a0002c0002t0003g0003 a0002c0002t0003g0007 a0002c0002t0003g0013 a0002c0002t0003g0059 a0002c0002t0003g0124 a0002c0002t0004g0119 a0002c0002t0004g0152 a0002c0002t0004g0176 a0002c0002t0004g0177 a0002c0002t0004g0184 a0002c0002t0005g0110 a0002c0002t0005g0111 a0002c0002t0017g0142 a0002c0002t0021g0019 a0002c0002t0035g0072 a0002c0004t0001g0183 a0002c0004t0002g0107 a0002c0004t0002g0144 a0002c0004t0002g0155 a0002c0004t0002g0179 a0003c0003t0001g0062 a0003c0003t0001g0185 a0003c0021t0001g0193 a0004c0005t0002g0139 a0004c0005t0002g0178 a0013c0019t0001g0010 a0015c0014t0004g0126	42	222	0.1892	-20	c.582 others(39): Show c.582+16684_582+16703delTAAATAAATAAATAAATAAA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110140158	CATGGATT others(13): Show CATGGATTCCTGTGATATTCA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	222	0.0045	-20	c.299 others(39): Show c.2995+1647_2995+1666delCCTGTGATATTCAATGGATT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM3_chr19_14048367_14067076	14050141	GATCATGC others(13): Show GATCATGCAAAGACAAACTAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	-20	c.34 others(31): Show c.3444_*3463delTTAGTTTGTCTTTGCATGAT	PALM3	ENSG00000187867.10	transcript	ENST00000669674.2	protein_coding		3225		chr19	TogoVar
PALMD_chr1_99641113_99699535	99650285	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(119): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18964.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19076.hp1 NA19077.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0007c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0007c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(114): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0292 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0351 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0006g0157 a0001c0001t0007g0162 a0001c0001t0008g0168 a0001c0002t0001g0362 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0355 a0001c0002t0002g0369 a0001c0005t0001g0296 a0007c0015t0001g0139	122	380	0.3211	-20	c.45+ others(35): Show c.45+3938_45+3957delAAAAAAAAAAAAAAAAAAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99652659	AGAAAGGA others(13): Show AGAAAGGAAAGGAAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp1 HG01346.hp1 others(2): Show HG00738.hp2 HG01123.hp1 HG01346.hp1 HG02148.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0067 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0152	5	380	0.0132	-20	c.45+ others(35): Show c.45+6317_45+6336delGGAAAGGAAAGGAAAGGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99652679	GGAAAGGA others(13): Show GGAAAGGAAAGGAAAGGAAAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp2 HG01891.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0360 a0001c0001t0001g0301 a0001c0001t0001g0360	2	380	0.0053	-20	c.45+ others(35): Show c.45+6322_45+6341delGGAAAGGAAAGGAAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99683003	CTCCAAAA others(13): Show CTCCAAAAAGAAAGAAGGAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0081 a0002c0003t0001g0081	1	380	0.0026	-20	c.252 others(37): Show c.252-3672_252-3653delTCCAAAAAGAAAGAAGGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7			chr1	TogoVar
PALMD_chr1_99641113_99699535	99683080	GAGAGAGA others(13): Show GAGAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	380	0.0026	-20	c.252 others(37): Show c.252-3592_252-3573delGAGAGAGAAAGAAAGAAAGA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALS1_chr14_67236435_67341061	67284547	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	290	0.0035	-20	c.367 others(37): Show c.367+5032_367+5051delAAAAAAAAAAAAAAAAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS2_chr7_24568452_24699193	24595559	CTATATAT others(13): Show CTATATATAAATATATATAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03688.hp1 HG01891.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0131 a0001c0001t0009 a0001c0001t0131	a0001c0001t0009g0055 a0001c0001t0131g0082 a0001c0001t0009g0055 a0001c0001t0131g0082	2	378	0.0053	-20	c.-3+ others(37): Show c.-3+21985_-3+22004delAATATATATAAATATATATA	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PALS2_chr7_24568452_24699193	24607555	ATGTGTAT others(13): Show ATGTGTATATATACATATATG	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0044 a0001c0001t0011g0044	1	378	0.0027	-20	c.-2- others(37): Show c.-2-16085_-2-16066delATATATACATATATGTGTGT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PALS2_chr7_24568452_24699193	24691405	GTATATAT others(13): Show GTATATATATATATATATATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18993.hp2 NA19075.hp1 NA19078.hp1 others(2): Show NA18993.hp2 NA19075.hp1 NA19078.hp1 NA19083.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0293 a0001c0002t0017g0294 a0001c0002t0017g0295 others(2): Show a0001c0002t0017g0293 a0001c0002t0017g0294 a0001c0002t0017g0295 a0001c0002t0017g0296 a0001c0002t0017g0318	5	378	0.0132	-20	c.38 others(31): Show c.3812_*3831delTATATATATATATATATATA	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	12/12	3812	INFO_REALIGN_3_PRIME	chr7	TogoVar
PAM_chr5_102750305_103034716	102758068	ATTTTGTT others(13): Show ATTTTGTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp1 NA18954.hp1 others(1): Show HG02723.hp1 HG02922.hp1 NA18954.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0003 a0001c0001 a0001c0002 a0003c0003	a0001c0001t0001 a0001c0002t0004 a0003c0003t0001 a0001c0001t0001 a0001c0002t0004 a0003c0003t0001	a0001c0001t0001g0043 a0001c0002t0004g0041 a0001c0002t0004g0042 others(1): Show a0001c0001t0001g0043 a0001c0002t0004g0041 a0001c0002t0004g0042 a0003c0003t0001g0040	4	188	0.0213	-20	c.-37 others(39): Show c.-374+2725_-374+2744delGTTTTTTTTTTTTTTTTTTT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102780749	CTTTCTCT others(13): Show CTTTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0107	1	188	0.0053	-20	c.-37 others(41): Show c.-374+25403_-374+25422delTTCTCTTTCTTTCTTTCTTT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102780753	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02896.hp1 NA18951.hp2 HG02056.hp1 HG02896.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0126 a0001c0001t0001g0179 a0001c0002t0002g0004 a0001c0001t0001g0126 a0001c0001t0001g0179 a0001c0002t0002g0004	3	188	0.0160	-20	c.-37 others(41): Show c.-374+25469_-374+25488delTTCTTTCTTTCTTTCTTTCT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102803146	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG02602.hp1 others(1): Show HG00621.hp1 HG00621.hp2 HG02602.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0001t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0096 a0001c0001t0001g0128 a0001c0002t0003g0173 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0128 a0001c0002t0003g0173 a0001c0002t0004g0160	4	188	0.0213	-20	c.-37 others(41): Show c.-374+47841_-374+47860delGGAAGGAAGGAAGGAAGGAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102803189	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01346.hp1 homoSapiens_chm13v2.hp1 HG01106.hp1 HG01346.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0042 a0001c0002t0004g0067 a0001c0002t0004g0088 a0001c0002t0004g0042 a0001c0002t0004g0067 a0001c0002t0004g0088	3	188	0.0160	-20	c.-37 others(41): Show c.-374+47861_-374+47880delAGAAGGAAGGAAGGAAGGAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102882052	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18983.hp1 NA19005.hp1 NA18975.hp2 NA18983.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0149 a0001c0002t0002g0181 a0001c0002t0004g0078 a0001c0002t0002g0149 a0001c0002t0002g0181 a0001c0002t0004g0078	3	188	0.0160	-20	c.210 others(39): Show c.210+14699_210+14718delTATATATATATATATATATA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAN3_chr13_28133545_28300335	28215548	TGAACCAT others(13): Show TGAACCATTCAGGCTAAATCA	T T	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	252	0.0040	-20	c.853 others(37): Show c.853-4681_853-4662delAACCATTCAGGCTAAATCAG	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK1_chr10_89577988_89650242	89595833	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02615.hp2 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0261 a0001c0003t0002g0264 a0001c0003t0002g0261 a0001c0003t0002g0264	2	366	0.0055	-20	c.900 others(37): Show c.900-1864_900-1845delATATATATATATATATATAT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar
PANK2_chr20_3884387_3934887	3929958	CTTCCCAC others(13): Show CTTCCCACATTAGTAGGAGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG03098.hp1 others(1): Show HG01884.hp1 HG02257.hp2 HG03098.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0087 a0001c0001t0118 a0001c0001t0049 a0001c0001t0087 a0001c0001t0118	a0001c0001t0049g0080 a0001c0001t0049g0082 a0001c0001t0087g0055 others(1): Show a0001c0001t0049g0080 a0001c0001t0049g0082 a0001c0001t0087g0055 a0001c0001t0118g0081	4	422	0.0095	-20	c.66 others(31): Show c.6665_*6684delTTCCCACATTAGTAGGAGCG	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding		72		chr20	TogoVar
PANX1_chr11_94123841_94186968	94164095	ATTTTATT others(13): Show ATTTTATTTATTTGGTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02818.hp2 others(2): Show HG02055.hp2 HG02109.hp1 HG02818.hp2 HG03453.hp1 NA21309.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0012 a0006c0006t0003g0076 a0006c0006t0003g0329 a0006c0006t0003g0012 a0006c0006t0003g0076 a0006c0006t0003g0329	5	408	0.0123	-20	c.321 others(39): Show c.321+10470_321+10489delATTTATTTGGTCTTTCTTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX2_chr22_50165731_50185295	50165905	GCCTGCAA others(13): Show GCCTGCAATCCCAGCATGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	440	0.0023	-20	c.-48 others(31): Show c.-4825_-4806delCCTGCAATCCCAGCATGGCT	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		4825		chr22	TogoVar
PANX3_chr11_124606428_124625356	124607336	TAGAAAGA others(13): Show TAGAAAGAAAGAAAGAAAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 NA18947.hp2 NA18963.hp1 others(4): Show HG02559.hp1 NA18947.hp2 NA18963.hp1 NA18985.hp1 NA18988.hp1 NA19082.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0001c0001t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0003g0084 a0002c0003t0001g0017 a0001c0001t0001g0001 a0001c0001t0003g0084 a0002c0003t0001g0017	7	420	0.0167	-20	c.-42 others(31): Show c.-4220_-4201delAGAAAGAAAGAAAGAAAGAA	PANX3	ENSG00000154143.3	transcript	ENST00000284288.3	protein_coding		4091		chr11	TogoVar
PAOX_chr10_133374262_133396694	133379055	CCCTCCCC others(13): Show CCCTCCCCGCCCCTCCCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02615.hp1 HG02886.hp1 HG00099.hp2 HG02615.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0048 a0001c0002t0002g0032 a0001c0001t0001g0048 a0001c0002t0002g0032	3	346	0.0087	-20	c.-26 others(29): Show c.-261_-242delCCTCCCCGCCCCTCCCCGCG	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		206		chr10	TogoVar
PAOX_chr10_133374262_133396694	133379065	CCCTCCCC others(13): Show CCCTCCCCGCGCCTCCCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0153 a0001c0002t0003g0153	1	346	0.0029	-20	c.-25 others(29): Show c.-251_-232delCCTCCCCGCGCCTCCCCGCG	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		196		chr10	TogoVar
PAOX_chr10_133374262_133396694	133379095	GCCTCCCC others(13): Show GCCTCCCCGCGCCTCCCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	346	0.0029	-20	c.-22 others(29): Show c.-221_-202delCCTCCCCGCGCCTCCCCGCC	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		166		chr10	TogoVar
PAOX_chr10_133374262_133396694	133379165	CCCTCCCC others(13): Show CCCTCCCCGCCCCTCCCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	346	0.0029	-20	c.-15 others(29): Show c.-151_-132delCCTCCCCGCCCCTCCCCGCG	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		96		chr10	TogoVar
PAPLN_chr14_73232506_73279623	73247796	CCGTGTGT others(13): Show CCGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00609.hp2 others(106): Show HG00408.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01123.hp2 HG01175.hp1 HG01256.hp1 HG01358.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp1 HG02723.hp2 HG03017.hp1 HG03453.hp2 HG03654.hp2 HG03710.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19091.hp1 NA21309.hp2	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0012 a0021 a0022 a0023 a0036	a0001c0004 a0003c0002 a0003c0012 others(8): Show a0001c0004 a0003c0002 a0003c0012 a0003c0032 a0003c0065 a0006c0008 a0012c0017 a0021c0033 a0022c0035 a0023c0034 a0036c0063	a0001c0004t0001 a0003c0002t0001 a0003c0002t0003 others(16): Show a0001c0004t0001 a0003c0002t0001 a0003c0002t0003 a0003c0002t0010 a0003c0002t0021 a0003c0002t0024 a0003c0002t0028 a0003c0002t0029 a0003c0012t0001 a0003c0032t0001 a0003c0065t0001 a0006c0008t0001 a0006c0008t0010 a0006c0008t0016 a0012c0017t0001 a0021c0033t0001 a0022c0035t0001 a0023c0034t0001 a0036c0063t0001	a0001c0004t0001g0003 a0001c0004t0001g0004 a0001c0004t0001g0056 others(100): Show a0001c0004t0001g0003 a0001c0004t0001g0004 a0001c0004t0001g0056 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0001g0089 a0003c0002t0001g0006 a0003c0002t0001g0007 a0003c0002t0001g0008 a0003c0002t0001g0028 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0050 a0003c0002t0001g0106 a0003c0002t0001g0107 a0003c0002t0001g0108 a0003c0002t0001g0112 a0003c0002t0001g0123 a0003c0002t0001g0129 a0003c0002t0001g0130 a0003c0002t0001g0131 a0003c0002t0001g0133 a0003c0002t0001g0138 a0003c0002t0001g0139 a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 a0003c0002t0001g0147 a0003c0002t0001g0148 a0003c0002t0001g0150 a0003c0002t0001g0151 a0003c0002t0001g0152 a0003c0002t0001g0154 a0003c0002t0001g0155 a0003c0002t0001g0156 a0003c0002t0001g0157 a0003c0002t0001g0159 a0003c0002t0001g0161 a0003c0002t0001g0162 a0003c0002t0001g0163 a0003c0002t0001g0164 a0003c0002t0001g0165 a0003c0002t0001g0166 a0003c0002t0001g0167 a0003c0002t0001g0168 a0003c0002t0001g0169 a0003c0002t0001g0178 a0003c0002t0001g0179 a0003c0002t0001g0180 a0003c0002t0001g0184 a0003c0002t0001g0187 a0003c0002t0001g0195 a0003c0002t0001g0197 a0003c0002t0001g0198 a0003c0002t0003g0132 a0003c0002t0010g0006 a0003c0002t0010g0136 a0003c0002t0021g0153 a0003c0002t0024g0113 a0003c0002t0028g0135 a0003c0002t0029g0134 a0003c0012t0001g0010 a0003c0012t0001g0171 a0003c0012t0001g0181 a0003c0012t0001g0182 a0003c0012t0001g0183 a0003c0032t0001g0022 a0003c0032t0001g0023 a0003c0065t0001g0196 a0006c0008t0001g0005 a0006c0008t0001g0114 a0006c0008t0001g0115 a0006c0008t0001g0118 a0006c0008t0001g0119 a0006c0008t0001g0120 a0006c0008t0001g0121 a0006c0008t0001g0122 a0006c0008t0001g0124 a0006c0008t0001g0125 a0006c0008t0001g0126 a0006c0008t0001g0127 a0006c0008t0001g0146 a0006c0008t0010g0145 a0006c0008t0016g0143 a0006c0008t0016g0144 a0012c0017t0001g0051 a0012c0017t0001g0109 a0012c0017t0001g0110 a0012c0017t0001g0116 a0012c0017t0001g0117 a0021c0033t0001g0137 a0021c0033t0001g0177 a0022c0035t0001g0170 a0022c0035t0001g0172 a0023c0034t0001g0149 a0023c0034t0001g0158 a0036c0063t0001g0160	109	418	0.2608	-20	c.334 others(37): Show c.334+1622_334+1641delCGTGTGTGTGTGTGTGTGTG	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	5/26			chr14	TogoVar
PAPPA2_chr1_176458175_176850601	176481252	GCACACAC others(13): Show GCACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01071.hp1 others(25): Show HG00099.hp1 HG00323.hp2 HG01071.hp1 HG01081.hp2 HG01175.hp2 HG02055.hp1 HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03834.hp2 NA18522.hp1 NA19043.hp1 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0037 a0001c0001t0040 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0002t0002 a0001c0002t0015 a0001c0002t0042 a0001c0003t0003 a0001c0006t0033 a0002c0004t0016 a0002c0004t0038 a0005c0013t0007	a0001c0001t0001g0009 a0001c0001t0001g0064 a0001c0001t0002g0010 others(25): Show a0001c0001t0001g0009 a0001c0001t0001g0064 a0001c0001t0002g0010 a0001c0001t0002g0033 a0001c0001t0004g0102 a0001c0001t0005g0030 a0001c0001t0010g0019 a0001c0001t0010g0106 a0001c0001t0020g0012 a0001c0001t0023g0115 a0001c0001t0024g0037 a0001c0001t0025g0085 a0001c0001t0026g0036 a0001c0001t0037g0018 a0001c0001t0040g0022 a0001c0001t0047g0017 a0001c0001t0048g0112 a0001c0001t0049g0026 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0015g0005 a0001c0002t0042g0038 a0001c0003t0003g0060 a0001c0003t0003g0075 a0001c0006t0033g0032 a0002c0004t0016g0025 a0002c0004t0038g0023 a0005c0013t0007g0110	28	118	0.2373	-20	c.-91 others(41): Show c.-917+17863_-917+17882delCACACACACACACACACACA	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA2_chr1_176458175_176850601	176623557	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03453.hp1 HG03516.hp2 HG03041.hp2 HG03453.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0015 a0003c0005t0022 a0001c0001t0001 a0001c0002t0015 a0003c0005t0022	a0001c0001t0001g0020 a0001c0002t0015g0114 a0003c0005t0022g0111 a0001c0001t0001g0020 a0001c0002t0015g0114 a0003c0005t0022g0111	3	118	0.0254	-20	c.199 others(41): Show c.1991+27981_1991+28000delCTCCTTCCTTCCTTCCTTCC	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA2_chr1_176458175_176850601	176634947	GTAGATAG others(13): Show GTAGATAGATAGATAGATAAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp2 HG02717.hp1 others(6): Show HG01081.hp1 HG02257.hp2 HG02717.hp1 HG03453.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0005 a0001c0001 a0001c0006 a0003c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0021 a0001c0006t0002 a0003c0005t0009 a0003c0005t0022	a0001c0001t0002g0033 a0001c0001t0002g0052 a0001c0001t0005g0008 others(6): Show a0001c0001t0002g0033 a0001c0001t0002g0052 a0001c0001t0005g0008 a0001c0001t0007g0084 a0001c0001t0011g0056 a0001c0001t0021g0071 a0001c0006t0002g0061 a0003c0005t0009g0011 a0003c0005t0022g0111	9	118	0.0763	-20	c.199 others(41): Show c.1992-36004_1992-35985delAATAGATAGATAGATAGATA	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA2_chr1_176458175_176850601	176695966	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(39): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp1 HG02055.hp2 HG02083.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04204.hp2 HG06807.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0015 a0002c0004 a0008c0007 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0001c0002t0028 a0001c0002t0035 a0001c0002t0036 a0001c0002t0042 a0001c0003t0003 a0001c0003t0029 a0001c0003t0030 a0001c0003t0032 a0001c0006t0002 a0001c0015t0008 a0002c0004t0005 a0002c0004t0014 a0008c0007t0002 a0009c0008t0003	a0001c0001t0001g0020 a0001c0001t0002g0033 a0001c0001t0002g0052 others(39): Show a0001c0001t0001g0020 a0001c0001t0002g0033 a0001c0001t0002g0052 a0001c0001t0004g0077 a0001c0001t0005g0008 a0001c0001t0007g0084 a0001c0001t0011g0056 a0001c0001t0011g0067 a0001c0001t0018g0002 a0001c0001t0018g0024 a0001c0001t0020g0012 a0001c0001t0021g0071 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0008g0013 a0001c0002t0008g0046 a0001c0002t0015g0005 a0001c0002t0015g0114 a0001c0002t0016g0068 a0001c0002t0028g0003 a0001c0002t0035g0021 a0001c0002t0036g0015 a0001c0002t0042g0038 a0001c0003t0003g0041 a0001c0003t0003g0050 a0001c0003t0003g0051 a0001c0003t0003g0060 a0001c0003t0003g0075 a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0029g0080 a0001c0003t0030g0069 a0001c0003t0032g0057 a0001c0006t0002g0061 a0001c0015t0008g0093 a0002c0004t0005g0014 a0002c0004t0014g0031 a0002c0004t0014g0042 a0008c0007t0002g0088 a0009c0008t0003g0100	42	118	0.3559	-20	c.274 others(37): Show c.2746+129_2746+148delGTGTGTGTGTGTGTGTGTGT	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA_chr9_116148791_116407321	116231660	CGGATGGA others(13): Show CGGATGGATGGATGGATGGAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG00735.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0046 a0001c0002 a0001c0046	a0001c0002t0008 a0001c0046t0036 a0001c0002t0008 a0001c0046t0036	a0001c0002t0008g0174 a0001c0046t0036g0141 a0001c0002t0008g0174 a0001c0046t0036g0141	2	234	0.0086	-20	c.223 others(39): Show c.2234-3438_2234-3419delGGATGGATGGATGGATGGAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPPA_chr9_116148791_116407321	116385234	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00544.hp1 others(102): Show HG00099.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18945.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp2 NA18999.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0013 a0017 a0018 a0019	a0001c0001 a0001c0002 a0001c0005 others(34): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0036 a0001c0046 a0002c0003 a0002c0004 a0002c0006 a0002c0010 a0002c0016 a0002c0018 a0002c0019 a0002c0049 a0002c0050 a0002c0053 a0002c0057 a0003c0007 a0003c0012 a0003c0020 a0003c0021 a0004c0014 a0004c0015 a0004c0026 a0005c0024 a0005c0025 a0006c0008 a0007c0034 a0007c0051 a0008c0058 a0008c0059 a0010c0054 a0012c0043 a0013c0028 a0017c0035 a0018c0055 a0019c0041	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(72): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0060 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0017 a0001c0002t0022 a0001c0002t0033 a0001c0002t0039 a0001c0002t0041 a0001c0002t0063 a0001c0002t0064 a0001c0005t0002 a0001c0005t0003 a0001c0005t0005 a0001c0005t0012 a0001c0011t0009 a0001c0036t0005 a0001c0046t0036 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0015 a0002c0003t0027 a0002c0003t0045 a0002c0004t0004 a0002c0004t0007 a0002c0004t0009 a0002c0004t0013 a0002c0004t0016 a0002c0004t0017 a0002c0004t0020 a0002c0004t0026 a0002c0004t0044 a0002c0004t0052 a0002c0004t0057 a0002c0006t0015 a0002c0010t0005 a0002c0010t0011 a0002c0016t0024 a0002c0016t0032 a0002c0018t0002 a0002c0019t0046 a0002c0049t0053 a0002c0050t0013 a0002c0053t0054 a0002c0057t0004 a0003c0007t0004 a0003c0007t0008 a0003c0007t0037 a0003c0012t0011 a0003c0020t0011 a0003c0021t0007 a0004c0014t0006 a0004c0015t0004 a0004c0015t0024 a0004c0026t0012 a0005c0024t0012 a0005c0025t0055 a0006c0008t0005 a0007c0034t0020 a0007c0051t0009 a0008c0058t0012 a0008c0059t0013 a0010c0054t0001 a0012c0043t0009 a0013c0028t0004 a0017c0035t0011 a0018c0055t0043 a0019c0041t0016	a0001c0001t0001g0132 a0001c0001t0005g0123 a0001c0001t0005g0145 others(102): Show a0001c0001t0001g0132 a0001c0001t0005g0123 a0001c0001t0005g0145 a0001c0001t0005g0151 a0001c0001t0011g0028 a0001c0001t0011g0049 a0001c0001t0012g0161 a0001c0001t0060g0129 a0001c0002t0004g0060 a0001c0002t0004g0080 a0001c0002t0004g0128 a0001c0002t0004g0183 a0001c0002t0004g0228 a0001c0002t0007g0059 a0001c0002t0007g0063 a0001c0002t0007g0068 a0001c0002t0007g0179 a0001c0002t0008g0076 a0001c0002t0008g0158 a0001c0002t0008g0174 a0001c0002t0008g0212 a0001c0002t0008g0219 a0001c0002t0008g0227 a0001c0002t0009g0216 a0001c0002t0013g0012 a0001c0002t0017g0042 a0001c0002t0022g0121 a0001c0002t0022g0173 a0001c0002t0033g0017 a0001c0002t0039g0176 a0001c0002t0041g0047 a0001c0002t0063g0188 a0001c0002t0064g0225 a0001c0005t0002g0102 a0001c0005t0003g0093 a0001c0005t0005g0103 a0001c0005t0012g0087 a0001c0011t0009g0094 a0001c0011t0009g0096 a0001c0011t0009g0104 a0001c0036t0005g0140 a0001c0046t0036g0141 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0003g0186 a0002c0003t0003g0218 a0002c0003t0005g0084 a0002c0003t0005g0191 a0002c0003t0015g0169 a0002c0003t0015g0202 a0002c0003t0027g0038 a0002c0003t0045g0010 a0002c0004t0004g0226 a0002c0004t0007g0113 a0002c0004t0007g0146 a0002c0004t0009g0114 a0002c0004t0013g0004 a0002c0004t0013g0159 a0002c0004t0013g0163 a0002c0004t0016g0081 a0002c0004t0016g0167 a0002c0004t0017g0008 a0002c0004t0017g0040 a0002c0004t0020g0005 a0002c0004t0026g0108 a0002c0004t0044g0085 a0002c0004t0052g0039 a0002c0004t0057g0045 a0002c0006t0015g0025 a0002c0010t0005g0135 a0002c0010t0011g0150 a0002c0016t0024g0007 a0002c0016t0032g0011 a0002c0018t0002g0233 a0002c0019t0046g0126 a0002c0049t0053g0232 a0002c0050t0013g0234 a0002c0053t0054g0100 a0002c0057t0004g0208 a0003c0007t0004g0134 a0003c0007t0004g0137 a0003c0007t0008g0133 a0003c0007t0037g0138 a0003c0012t0011g0136 a0003c0020t0011g0131 a0003c0021t0007g0130 a0004c0014t0006g0023 a0004c0015t0004g0127 a0004c0015t0024g0147 a0004c0026t0012g0001 a0005c0024t0012g0024 a0005c0025t0055g0020 a0006c0008t0005g0032 a0006c0008t0005g0172 a0006c0008t0005g0195 a0007c0034t0020g0187 a0007c0051t0009g0014 a0008c0058t0012g0162 a0008c0059t0013g0221 a0010c0054t0001g0098 a0012c0043t0009g0194 a0013c0028t0004g0223 a0017c0035t0011g0078 a0018c0055t0043g0097 a0019c0041t0016g0022	105	234	0.4487	-20	c.477 others(39): Show c.4776+2772_4776+2791delATAAATAAATAAATAAATAA	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPSS1_chr4_107608666_107725234	107639177	ACATTTTT others(13): Show ACATTTTTTCCCTATGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02109.hp2 HG02486.hp2 others(5): Show HG01975.hp2 HG02109.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02897.hp2 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(5): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0005t0001g0032 a0001c0005t0001g0042	8	276	0.0290	-20	c.150 others(39): Show c.1506+5605_1506+5624delCTTTTCATAGGGAAAAAATG	PAPSS1	ENSG00000138801.9	transcript	ENST00000265174.5	protein_coding	10/11			chr4	TogoVar
PAPSS2_chr10_87654878_87752705	87676872	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp1 HG01891.hp2 others(11): Show HG01243.hp2 HG01433.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02717.hp2 HG02818.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0057 a0001c0001t0059 others(2): Show a0001c0001t0009 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061	a0001c0001t0009g0155 a0001c0001t0009g0212 a0001c0001t0009g0213 others(11): Show a0001c0001t0009g0155 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0215 a0001c0001t0009g0216 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0009g0220 a0001c0001t0009g0221 a0001c0001t0009g0222 a0001c0001t0057g0154 a0001c0001t0059g0214 a0001c0001t0060g0153 a0001c0001t0061g0217	14	372	0.0376	-20	c.27+ others(37): Show c.27+16884_27+16903delAAAAAAAAAAAAAAAAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87701315	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0156 a0001c0001t0049g0156	1	372	0.0027	-20	c.28- others(35): Show c.28-7877_28-7858delCCTTCCTTCCTTTCTTTCTT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87701323	CCTTCCTT others(13): Show CCTTCCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	372	0.0027	-20	c.28- others(35): Show c.28-7869_28-7850delCCTTTCTTTCTTTCTTTCTT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87734663	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA21309.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0305 a0001c0001t0025g0306 a0001c0001t0025g0305 a0001c0001t0025g0306	2	372	0.0054	-20	c.108 others(39): Show c.1087-6548_1087-6529delATATATATATATATATATAT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300590	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG06807.hp1 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0237 a0001c0001t0002g0236 a0001c0001t0001g0237 a0001c0001t0002g0236	2	284	0.0070	-20	c.-27 others(39): Show c.-277+1577_-277+1596delCTTTCTTTCTTTCTTTCTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300841	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01891.hp1 HG02602.hp1 others(6): Show HG00423.hp2 HG01891.hp1 HG02602.hp1 HG03225.hp2 NA18954.hp1 NA18957.hp1 NA18968.hp1 NA19009.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0065 a0001c0001t0001g0066 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0002g0144	9	284	0.0317	-20	c.-27 others(39): Show c.-277+1820_-277+1839delTCTTTCTTTCTTTCTTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300876	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0227 a0002c0002t0009g0227	1	284	0.0035	-20	c.-27 others(39): Show c.-277+1824_-277+1843delTCTTTCTTTCTTTCTTCCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69301859	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18959.hp1 NA18959.hp2 NA18947.hp1 NA18959.hp1 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0003 a0002c0002t0002 a0001c0001t0001 a0001c0003t0003 a0002c0002t0002	a0001c0001t0001g0119 a0001c0003t0003g0068 a0002c0002t0002g0112 a0001c0001t0001g0119 a0001c0003t0003g0068 a0002c0002t0002g0112	3	284	0.0106	-20	c.-27 others(39): Show c.-277+2821_-277+2840delTTTTTTTTTTTTTTTTTTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar

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