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
PRRX2_chr9_129660647_129727674	129700645	TCTGAACC others(10): Show TCTGAACCTGTCACCCAG	T T	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	356	0.0028	-17	c.260 others(36): Show c.260-18585_260-18569delCTGAACCTGTCACCCAG	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3			chr9	TogoVar
PRSS22_chr16_2847730_2863170	2860268	ACCTGCTG others(10): Show ACCTGCTGTATGTCAGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	-17	c.-21 others(28): Show c.-2181_-2165delGCCTGACATACAGCAGG	PRSS22	ENSG00000005001.10	transcript	ENST00000161006.8	protein_coding		2099		chr16	TogoVar
PRSS27_chr16_2707422_2725224	2722519	CCTGTAGA others(10): Show CCTGTAGACCCAGCTACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	380	0.0026	-17	c.-23 others(28): Show c.-2376_-2360delAGTAGCTGGGTCTACAG	PRSS27	ENSG00000172382.10	transcript	ENST00000302641.8	protein_coding		2296		chr16	TogoVar
PRTG_chr15_55606544_55748152	55670901	AAACACAC others(10): Show AAACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0058 a0001c0001t0018g0058	1	277	0.0036	-17	c.204 others(36): Show c.2041+1527_2041+1543delGTGTGTGTGTGTGTGTT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRTG_chr15_55606544_55748152	55708148	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(83): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00639.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02148.hp2 HG02273.hp2 HG02486.hp2 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG03098.hp1 HG03225.hp2 HG03239.hp1 HG03491.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19064.hp1 NA19066.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19082.hp1 NA20300.hp1	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0014 a0015	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0011c0016 a0014c0018 a0015c0023	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0029 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0066 a0001c0001t0071 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0003t0004 a0002c0002t0089 a0002c0002t0109 a0011c0016t0029 a0014c0018t0006 a0015c0023t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 others(83): Show a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0004g0142 a0001c0001t0004g0188 a0001c0001t0005g0137 a0001c0001t0005g0141 a0001c0001t0005g0180 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0006g0138 a0001c0001t0006g0140 a0001c0001t0006g0148 a0001c0001t0008g0145 a0001c0001t0008g0159 a0001c0001t0008g0197 a0001c0001t0008g0198 a0001c0001t0015g0116 a0001c0001t0015g0169 a0001c0001t0015g0201 a0001c0001t0029g0092 a0001c0001t0036g0151 a0001c0001t0036g0157 a0001c0001t0039g0199 a0001c0001t0040g0135 a0001c0001t0040g0136 a0001c0001t0066g0094 a0001c0001t0071g0143 a0001c0001t0075g0167 a0001c0001t0077g0174 a0001c0001t0078g0149 a0001c0001t0079g0178 a0001c0001t0080g0202 a0001c0001t0081g0171 a0001c0003t0004g0173 a0001c0003t0004g0225 a0002c0002t0089g0163 a0002c0002t0109g0236 a0011c0016t0029g0093 a0014c0018t0006g0170 a0015c0023t0001g0235	86	130	0.6615	-17	c.398 others(36): Show c.398-24234_398-24218delTTTTTTTTTTTTTTTTT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	2/19			chr15	TogoVar
PRTN3_chr19_835999_853175	844220	CCGCCTCT others(10): Show CCGCCTCTCCCCCGCCCG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02572.hp2 others(8): Show HG01884.hp1 HG02257.hp1 HG02572.hp2 HG02723.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0001g0265 others(8): Show a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0001g0265 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0333 a0001c0001t0002g0295 a0001c0001t0002g0300	11	366	0.0301	-17	c.369 others(32): Show c.369+215_369+231delCGCCCGCGCCTCTCCCC	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRTN3_chr19_835999_853175	844267	GCGCGCCT others(10): Show GCGCGCCTCTCCCCCGCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp1 others(41): Show HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00597.hp1 HG01074.hp1 HG01168.hp1 HG01361.hp1 HG01496.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02523.hp1 HG02970.hp2 HG03669.hp1 HG04184.hp1 NA18948.hp1 NA18954.hp2 NA18959.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18997.hp2 NA18999.hp2 NA19011.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19074.hp1 NA19086.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0328 a0001c0001t0003g0032 a0001c0001t0003g0286 a0001c0001t0004g0251 a0001c0001t0004g0280 a0001c0001t0005g0187	44	362	0.1215	-17	c.369 others(32): Show c.369+280_369+296delCCGCCCGCGCCTCTCCC	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRTN3_chr19_835999_853175	844503	GCCTCTCC others(10): Show GCCTCTCCCCTGCCTGCC	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	414	0.0024	-17	c.369 others(32): Show c.369+486_369+502delCCCTCTCCCCTGCCTGC	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRTN3_chr19_835999_853175	849688	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	191	0.0052	-17	c.17 others(28): Show c.1720_*1736delTTTTTTTTTTTTTTTTT	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding		1514		chr19	TogoVar
PRXL2C_chr9_96634577_96660317	96644881	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03579.hp2 HG01884.hp1 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0006 a0002c0002t0005g0006	2	53	0.0377	-17	c.553 others(33): Show c.553+995_553+1011delAAAAAAAAAAAAAAAAA	PRXL2C	ENSG00000158122.12	transcript	ENST00000375234.8	protein_coding	5/5			chr9	TogoVar
PRX_chr19_40388768_40418378	40418211	TTTTCTTT others(10): Show TTTTCTTTTCTTTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(70): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02129.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03453.hp1 HG03490.hp2 HG03540.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18952.hp1 NA18954.hp1 NA18987.hp2 NA18992.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19030.hp2 NA19064.hp1 NA19082.hp2 NA19085.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0006 a0009 a0010 a0012 a0015 a0018 a0022	a0001c0001 a0003c0003 a0003c0011 others(9): Show a0001c0001 a0003c0003 a0003c0011 a0004c0004 a0006c0006 a0009c0009 a0010c0014 a0012c0013 a0015c0028 a0015c0037 a0018c0036 a0022c0027	a0001c0001t0001 a0003c0003t0001 a0003c0011t0001 others(9): Show a0001c0001t0001 a0003c0003t0001 a0003c0011t0001 a0004c0004t0001 a0006c0006t0001 a0009c0009t0001 a0010c0014t0001 a0012c0013t0001 a0015c0028t0001 a0015c0037t0001 a0018c0036t0001 a0022c0027t0005	a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0211 others(52): Show a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0211 a0003c0003t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0020 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0066 a0003c0003t0001g0073 a0003c0003t0001g0075 a0003c0003t0001g0077 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0109 a0003c0003t0001g0148 a0003c0003t0001g0158 a0003c0011t0001g0023 a0003c0011t0001g0151 a0004c0004t0001g0010 a0004c0004t0001g0011 a0004c0004t0001g0022 a0004c0004t0001g0106 a0004c0004t0001g0107 a0004c0004t0001g0108 a0004c0004t0001g0110 a0004c0004t0001g0111 a0004c0004t0001g0112 a0004c0004t0001g0113 a0004c0004t0001g0122 a0004c0004t0001g0124 a0004c0004t0001g0136 a0006c0006t0001g0097 a0009c0009t0001g0060 a0009c0009t0001g0089 a0009c0009t0001g0115 a0009c0009t0001g0116 a0010c0014t0001g0072 a0010c0014t0001g0076 a0010c0014t0001g0101 a0012c0013t0001g0009 a0015c0028t0001g0086 a0015c0037t0001g0084 a0018c0036t0001g0078 a0022c0027t0005g0074	73	304	0.2401	-17	c.-51 others(28): Show c.-5133_-5117delGGAAGAAAGAAAAGAAA	PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding		4834		chr19	TogoVar
PSD3_chr8_18522303_19018703	18562914	AAAAAGAA others(10): Show AAAAAGAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02572.hp2 HG02818.hp1 others(1): Show HG01256.hp2 HG02572.hp2 HG02818.hp1 NA19074.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0026 a0001c0001t0055 a0002c0003t0001 others(1): Show a0001c0001t0026 a0001c0001t0055 a0002c0003t0001 a0003c0004t0011	a0001c0001t0026g0161 a0001c0001t0055g0167 a0002c0003t0001g0053 others(1): Show a0001c0001t0026g0161 a0001c0001t0055g0167 a0002c0003t0001g0053 a0003c0004t0011g0203	4	226	0.0177	-17	c.278 others(36): Show c.2785-6579_2785-6563delCTTTTTCTTTTTCTTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	14/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18617649	AACTTGAA others(10): Show AACTTGAAAAACCAGTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02071.hp1 HG02300.hp1 others(14): Show HG01496.hp2 HG02071.hp1 HG02300.hp1 NA18939.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18981.hp1 NA18981.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp2 NA19060.hp2 NA19081.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0013 others(8): Show a0001c0001 a0001c0002 a0001c0013 a0001c0027 a0002c0005 a0002c0015 a0002c0032 a0002c0033 a0003c0004 a0003c0008 a0004c0006	a0001c0001t0001 a0001c0001t0014 a0001c0001t0024 others(12): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0024 a0001c0001t0029 a0001c0001t0054 a0001c0002t0081 a0001c0013t0001 a0001c0027t0037 a0002c0005t0016 a0002c0015t0001 a0002c0032t0046 a0002c0033t0016 a0003c0004t0041 a0003c0008t0024 a0004c0006t0001	a0001c0001t0001g0047 a0001c0001t0014g0210 a0001c0001t0024g0028 others(14): Show a0001c0001t0001g0047 a0001c0001t0014g0210 a0001c0001t0024g0028 a0001c0001t0029g0045 a0001c0001t0029g0098 a0001c0001t0054g0054 a0001c0002t0081g0223 a0001c0013t0001g0013 a0001c0027t0037g0107 a0002c0005t0016g0051 a0002c0005t0016g0143 a0002c0015t0001g0129 a0002c0032t0046g0097 a0002c0033t0016g0052 a0003c0004t0041g0126 a0003c0008t0024g0120 a0004c0006t0001g0041	17	226	0.0752	-17	c.241 others(38): Show c.2410+14947_2410+14963delAAACTGGTTTTTCAAGT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	11/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18721295	AAGGGGTG others(10): Show AAGGGGTGGGGAAGGCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00621.hp1 others(28): Show HG00140.hp2 HG00609.hp1 HG00621.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01934.hp2 HG01978.hp2 HG02300.hp2 HG02486.hp1 HG02698.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG04204.hp2 HG04228.hp1 NA18960.hp1 NA18964.hp2 NA18981.hp2 NA19005.hp1 NA19060.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0002 a0001c0027 others(6): Show a0001c0001 a0001c0002 a0001c0027 a0002c0003 a0002c0005 a0002c0033 a0003c0004 a0003c0008 a0011c0036	a0001c0001t0001 a0001c0001t0064 a0001c0001t0069 others(21): Show a0001c0001t0001 a0001c0001t0064 a0001c0001t0069 a0001c0001t0073 a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0048 a0001c0027t0037 a0002c0003t0001 a0002c0003t0004 a0002c0003t0009 a0002c0005t0016 a0002c0033t0016 a0003c0004t0001 a0003c0004t0003 a0003c0004t0011 a0003c0004t0035 a0003c0004t0045 a0003c0004t0082 a0003c0008t0007 a0003c0008t0011 a0003c0008t0024 a0011c0036t0001	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0076 others(28): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0076 a0001c0001t0001g0096 a0001c0001t0001g0142 a0001c0001t0064g0034 a0001c0001t0069g0018 a0001c0001t0073g0022 a0001c0002t0001g0019 a0001c0002t0008g0108 a0001c0002t0009g0088 a0001c0002t0048g0026 a0001c0027t0037g0107 a0002c0003t0001g0062 a0002c0003t0004g0225 a0002c0003t0009g0017 a0002c0003t0009g0094 a0002c0005t0016g0051 a0002c0005t0016g0143 a0002c0033t0016g0052 a0003c0004t0001g0014 a0003c0004t0003g0093 a0003c0004t0011g0203 a0003c0004t0011g0204 a0003c0004t0035g0021 a0003c0004t0045g0082 a0003c0004t0082g0215 a0003c0008t0007g0128 a0003c0008t0011g0025 a0003c0008t0024g0120 a0011c0036t0001g0127	31	225	0.1378	-17	c.217 others(38): Show c.2172+44137_2172+44153delGTGCCTTCCCCACCCCT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865265	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19007.hp1 HG01109.hp1 NA19007.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0055 a0003c0004t0003g0093 a0001c0001t0001g0055 a0003c0004t0003g0093	2	223	0.0090	-17	c.163 others(36): Show c.1634+2392_1634+2408delTATATATATATATATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865269	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01934.hp2 HG02572.hp2 HG01099.hp2 HG01934.hp2 HG02572.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0026 a0003c0004t0001 a0003c0004t0051 a0001c0001t0026 a0003c0004t0001 a0003c0004t0051	a0001c0001t0026g0161 a0003c0004t0001g0014 a0003c0004t0051g0024 a0001c0001t0026g0161 a0003c0004t0001g0014 a0003c0004t0051g0024	3	219	0.0137	-17	c.163 others(36): Show c.1634+2388_1634+2404delTATATATATATATATAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865270	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0015 a0001c0023t0015	a0001c0023t0015g0189 a0001c0023t0015g0189	1	222	0.0045	-17	c.163 others(36): Show c.1634+2387_1634+2403delATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18949239	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0148 a0001c0001t0026g0148	1	219	0.0046	-17	c.22- others(34): Show c.22-13114_22-13098delATATATATATATTTTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73202445	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0154 a0001c0001t0007g0154	1	375	0.0027	-17	c.869 others(34): Show c.869-3940_869-3924delATATATATATATATATA	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11			chr14	TogoVar
PSEN1_chr14_73131507_73228691	73202446	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG01243.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0155 a0001c0001t0007g0156	2	371	0.0054	-17	c.869 others(34): Show c.869-3938_869-3922delATATATATATATATATT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73202456	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01074.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	2	366	0.0055	-17	c.869 others(34): Show c.869-3928_869-3912delATATATTTTTTTTTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG11_chr19_43002656_43031469	43023136	CTTCAGAG others(10): Show CTTCAGAGTTACATGAGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0162 a0004c0004t0002g0162	1	398	0.0025	-17	c.430 others(34): Show c.430+1538_430+1554delCCTCATGTAACTCTGAA	PSG11	ENSG00000243130.8	transcript	ENST00000320078.12	protein_coding	2/5			chr19	TogoVar
PSG2_chr19_43059209_43087701	43065539	TTTAGAAA others(10): Show TTTAGAAATGTTTTCCAG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	422	0.0024	-17	c.41 others(32): Show c.41-955_*41-939delCTGGAAAACATTTCTAA	PSG2	ENSG00000242221.9	transcript	ENST00000406487.6	protein_coding	5/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933290	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	413	0.0024	-17	c.430 others(34): Show c.430+2097_430+2113delTATATATATATATATAT	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG8_chr19_42749233_42770678	42761820	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp2 HG02622.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	125	0.0160	-17	c.430 others(34): Show c.430+2079_430+2095delAAAAAAAAAAAAAAAAA	PSG8	ENSG00000124467.20	transcript	ENST00000306511.5	protein_coding	2/4			chr19	TogoVar
PSG9_chr19_43248282_43274530	43269769	CACACACA others(10): Show CACACACACACAGAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG03225.hp1 HG02723.hp2 HG02809.hp2 HG03225.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0001 a0010c0008t0001	a0010c0008t0001g0021 a0010c0008t0001g0055 a0010c0008t0001g0021 a0010c0008t0001g0055	3	210	0.0143	-17	c.-35 others(26): Show c.-355_-339delCTCTTCTGTGTGTGTGT	PSG9	ENSG00000183668.18	transcript	ENST00000270077.8	protein_coding		240		chr19	TogoVar
PSKH1_chr16_67888254_67934676	67895859	TGGGCTTT others(10): Show TGGGCTTTGGTGTCAGAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG02559.hp1 others(16): Show HG01109.hp2 HG02451.hp1 HG02559.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG03041.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029	a0001c0001t0001g0011 a0001c0001t0001g0137 a0001c0001t0003g0011 others(13): Show a0001c0001t0001g0011 a0001c0001t0001g0137 a0001c0001t0003g0011 a0001c0001t0003g0017 a0001c0001t0003g0033 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0008g0011 a0001c0001t0008g0133 a0001c0001t0008g0134 a0001c0001t0010g0138 a0001c0001t0010g0139 a0001c0001t0023g0130 a0001c0001t0028g0132 a0001c0001t0029g0011	19	228	0.0833	-17	c.-71 others(34): Show c.-71+2489_-71+2505delGGGCTTTGGTGTCAGAA	PSKH1	ENSG00000159792.10	transcript	ENST00000291041.6	protein_coding	1/2			chr16	TogoVar
PSMB2_chr1_35594541_35646526	35628593	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19057.hp1 NA18960.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0016 a0001c0001t0003g0086 a0001c0001t0001g0016 a0001c0001t0003g0086	2	261	0.0077	-17	c.285 others(34): Show c.285+2664_285+2680delATATATATATATATTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628595	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18942.hp1 NA18955.hp1 others(3): Show HG01433.hp2 NA18942.hp1 NA18955.hp1 NA18973.hp2 NA18980.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0090 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0090 a0001c0001t0001g0170 a0001c0001t0003g0202 a0001c0001t0012g0084	6	292	0.0205	-17	c.285 others(34): Show c.285+2662_285+2678delATATATATATATATATT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628619	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	298	0.0034	-17	c.285 others(34): Show c.285+2638_285+2654delAAAAATATATATATATA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35642214	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG01934.hp1 others(9): Show HG00741.hp1 HG01175.hp2 HG01934.hp1 HG02257.hp2 HG03516.hp2 NA18939.hp2 NA18956.hp1 NA18960.hp1 NA18968.hp1 NA18977.hp2 NA18991.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015	a0001c0001t0002g0058 a0001c0001t0002g0112 a0001c0001t0002g0121 others(9): Show a0001c0001t0002g0058 a0001c0001t0002g0112 a0001c0001t0002g0121 a0001c0001t0002g0131 a0001c0001t0002g0208 a0001c0001t0007g0018 a0001c0001t0007g0063 a0001c0001t0007g0118 a0001c0001t0007g0126 a0001c0001t0007g0209 a0001c0001t0009g0008 a0001c0001t0015g0177	12	13	0.9231	-17	c.-79 others(26): Show c.-799_-783delTTTTTTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding		689		chr1	TogoVar
PSMC4_chr19_39966165_39986764	39981866	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 NA21309.hp1 HG02055.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	2	234	0.0085	-17	c.56 others(26): Show c.562_*578delTTTTTTTTTTTTTTTTT	PSMC4	ENSG00000013275.8	transcript	ENST00000157812.7	protein_coding		103		chr19	TogoVar
PSMD12_chr17_67332916_67371577	67361873	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0288 a0001c0002t0001g0288	1	68	0.0147	-17	c.109 others(34): Show c.109-4312_109-4296delTTTTTTTTTTTTTTTTT	PSMD12	ENSG00000197170.10	transcript	ENST00000356126.8	protein_coding	1/10			chr17	TogoVar
PSMD2_chr3_184294241_184314050	184296561	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 NA19002.hp2 NA19077.hp1 others(1): Show HG02602.hp2 NA19002.hp2 NA19077.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0031	4	62	0.0645	-17	c.-27 others(28): Show c.-2705_-2689delAAAAAAAAAAAAAAAAA	PSMD2	ENSG00000175166.17	transcript	ENST00000310118.9	protein_coding		2679		chr3	TogoVar
PSMD5_chr9_120811053_120847922	120826629	CGAAATCA others(10): Show CGAAATCAGCTCATTAAG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0044 a0001c0007t0011g0044	1	354	0.0028	-17	c.814 others(32): Show c.814+119_814+135delCTTAATGAGCTGATTTC	PSMD5	ENSG00000095261.14	transcript	ENST00000210313.8	protein_coding	6/9			chr9	TogoVar
PSMD6_chr3_64005551_64028494	64011670	ATACTACC others(10): Show ATACTACCTGAATTCAAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	424	0.0024	-17	c.996 others(32): Show c.996-732_996-716delGTTGAATTCAGGTAGTA	PSMD6	ENSG00000163636.11	transcript	ENST00000295901.9	protein_coding	6/7			chr3	TogoVar
PSME3IP1_chr16_57147466_57191039	57165034	AAAAAGAA others(10): Show AAAAAGAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	362	0.0028	-17	c.483 others(32): Show c.483-986_483-970delCTTTTTCTTTTTCTTTT	PSME3IP1	ENSG00000172775.18	transcript	ENST00000309137.13	protein_coding	5/6			chr16	TogoVar
PSME3IP1_chr16_57147466_57191039	57168943	AAAAAAAA others(10): Show AAAAAAAAACAAAAATGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	362	0.0028	-17	c.349 others(34): Show c.349-1734_349-1718delCCATTTTTGTTTTTTTT	PSME3IP1	ENSG00000172775.18	transcript	ENST00000309137.13	protein_coding	4/6			chr16	TogoVar
PSME4_chr2_53859069_53975993	53923913	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp2 others(66): Show HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00621.hp2 HG01255.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03195.hp2 HG03471.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18941.hp1 NA18945.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18999.hp2 NA19001.hp1 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19067.hp2 NA19072.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19087.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0002c0010 others(4): Show a0001c0009 a0002c0002 a0002c0010 a0002c0015 a0002c0020 a0002c0029 a0002c0032	a0001c0009t0013 a0002c0002t0002 a0002c0002t0004 others(5): Show a0001c0009t0013 a0002c0002t0002 a0002c0002t0004 a0002c0010t0002 a0002c0015t0002 a0002c0020t0002 a0002c0029t0002 a0002c0032t0004	a0001c0009t0013g0292 a0002c0002t0002g0022 a0002c0002t0002g0023 others(66): Show a0001c0009t0013g0292 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0050 a0002c0002t0002g0054 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0068 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0151 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0355 a0002c0002t0002g0356 a0002c0002t0002g0357 a0002c0002t0002g0358 a0002c0002t0004g0048 a0002c0002t0004g0064 a0002c0002t0004g0095 a0002c0002t0004g0118 a0002c0002t0004g0123 a0002c0010t0002g0018 a0002c0010t0002g0051 a0002c0010t0002g0056 a0002c0015t0002g0359 a0002c0020t0002g0219 a0002c0029t0002g0307 a0002c0032t0004g0374	69	133	0.5188	-17	c.181 others(34): Show c.1810-511_1810-495delTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	14/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53940923	TATATAAT others(10): Show TATATAATACATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0238 a0001c0001t0001g0204 a0001c0001t0001g0238	2	382	0.0052	-17	c.501 others(32): Show c.501-940_501-924delTTATATATGTATTATAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53967649	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0183 a0003c0004t0001g0183	1	82	0.0122	-17	c.242 others(34): Show c.242+2877_242+2893delTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	1/46			chr2	TogoVar
PSTPIP2_chr18_45978536_46077260	46052094	GAACAGAG others(10): Show GAACAGAGTGAGACACCA	G G	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0107 a0002c0002t0002g0107	1	314	0.0032	-17	c.34- others(34): Show c.34-12064_34-12048delTGGTGTCTCACTCTGTT	PSTPIP2	ENSG00000152229.18	transcript	ENST00000409746.5	protein_coding	1/14			chr18	TogoVar
PTBP1_chr19_792452_817312	808771	TGGGCCGG others(10): Show TGGGCCGGGGGGCTCATG	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0058 a0001c0006t0001g0058	1	386	0.0026	-17	c.146 others(32): Show c.1463+20_1463+36delGCTCATGGGGCCGGGGG	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
PTBP3_chr9_112213435_112338619	112249065	TAATGCTT others(10): Show TAATGCTTTAAAGTATTG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp2 HG02559.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0257 a0001c0001t0009g0303 a0001c0001t0009g0257 a0001c0001t0009g0303	2	340	0.0059	-17	c.802 others(34): Show c.802+1847_802+1863delCAATACTTTAAAGCATT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99432588	AGCGCAGG others(10): Show AGCGCAGGTCCTCCGTAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp2 HG03453.hp2 others(1): Show HG02451.hp2 HG03130.hp2 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0039 a0001c0001t0006 a0001c0001t0022 a0001c0001t0039	a0001c0001t0006g0052 a0001c0001t0006g0164 a0001c0001t0022g0166 others(1): Show a0001c0001t0006g0052 a0001c0001t0006g0164 a0001c0001t0022g0166 a0001c0001t0039g0165	4	378	0.0106	-17	c.594 others(32): Show c.594+673_594+689delATACGGAGGACCTGCGC	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding	3/7			chr7	TogoVar
PTCH1_chr9_95437980_95514266	95440487	AAGGAGGG others(10): Show AAGGAGGGAGAAGGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02970.hp2 HG02976.hp2 others(4): Show HG01884.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03516.hp2 NA19030.hp2 NA20905.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0003 a0003c0005t0007 a0003c0005t0002 a0003c0005t0003 a0003c0005t0007	a0003c0005t0002g0199 a0003c0005t0003g0008 a0003c0005t0003g0081 others(3): Show a0003c0005t0002g0199 a0003c0005t0003g0008 a0003c0005t0003g0081 a0003c0005t0003g0082 a0003c0005t0007g0193 a0003c0005t0007g0212	7	279	0.0251	-17	c.58 others(28): Show c.5889_*5905delCCCCCCTTCTCCCTCCT	PTCH1	ENSG00000185920.19	transcript	ENST00000331920.11	protein_coding		2492		chr9	TogoVar
PTCH1_chr9_95437980_95514266	95504022	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0081 a0003c0005t0003g0081	1	168	0.0060	-17	c.394 others(34): Show c.394+2368_394+2384delTTTTTTTTTTTTTTTTT	PTCH1	ENSG00000185920.19	transcript	ENST00000331920.11	protein_coding	2/23			chr9	TogoVar
PTCH1_chr9_95437980_95521971	95440487	AAGGAGGG others(10): Show AAGGAGGGAGAAGGGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG03195.hp1 others(3): Show HG01884.hp2 HG02976.hp2 HG03195.hp1 HG03516.hp2 NA19030.hp2 NA20905.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0002 a0003c0005t0001 a0003c0005t0002	a0003c0005t0001g0219 a0003c0005t0002g0065 a0003c0005t0002g0066 others(3): Show a0003c0005t0001g0219 a0003c0005t0002g0065 a0003c0005t0002g0066 a0003c0005t0002g0067 a0003c0005t0002g0184 a0003c0005t0002g0216	6	272	0.0221	-17	c.58 others(28): Show c.5889_*5905delCCCCCCTTCTCCCTCCT	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding		2492		chr9	TogoVar
PTCH1_chr9_95437980_95521971	95504022	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0065 a0003c0005t0002g0065	1	164	0.0061	-17	c.391 others(34): Show c.391+2368_391+2384delTTTTTTTTTTTTTTTTT	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding	2/23			chr9	TogoVar
PTCHD4_chr6_47851673_48116197	47961401	CATGCCTC others(10): Show CATGCCTCAGCTTTCCAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0140 a0001c0001t0095g0140	1	180	0.0056	-17	c.898 others(36): Show c.898+47216_898+47232delTTGGAAAGCTGAGGCAT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar

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