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
PAXBP1_chr21_32728899_32776755	32771895	AGAGAGAG others(71): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGCGAGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02976.hp2 HG02809.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0249 a0002c0005t0001g0035 a0001c0001t0001g0249 a0002c0005t0001g0035	2	360	0.0056	-78	c.-30 others(87): Show c.-305_-228delGCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		141		chr21	TogoVar
PBX3_chr9_125742373_125972377	125779952	CCCTCCCG others(71): Show CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCAGCCGGGCAGAGGCGCCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00609.hp1 others(31): Show HG00408.hp2 HG00544.hp1 HG00609.hp1 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02129.hp1 HG02735.hp2 HG04228.hp2 NA18939.hp1 NA18956.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18979.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19079.hp1 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0014	a0001c0002t0003g0142 a0001c0002t0004g0118 a0001c0002t0004g0135 others(31): Show a0001c0002t0003g0142 a0001c0002t0004g0118 a0001c0002t0004g0135 a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0002t0004g0139 a0001c0002t0004g0140 a0001c0002t0004g0141 a0001c0002t0004g0143 a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0164 a0001c0002t0004g0165 a0001c0002t0004g0166 a0001c0002t0013g0134 a0001c0002t0014g0151	34	294	0.1157	-78	c.274 others(97): Show c.274+31359_274+31436delAGGGGCTCCTCACTTCCCAGTAGGGG CAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AG	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45852425	CAGCCACC others(71): Show CAGCCACCCTGACTTCTGTTCGGAAGGAACACAGCCCTGTAGCCACCCTG ACTTTTGTTCAGAAGGAACACAGCCCTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp1 others(97): Show HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18970.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0006 others(2): Show a0001c0001 a0001c0002 a0002c0006 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0024 a0001c0002t0001 a0002c0006t0001 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(97): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0002g0001 a0001c0001t0002g0034 a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0013g0180 a0001c0001t0013g0182 a0001c0001t0024g0236 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0150 a0001c0002t0001g0152 a0002c0006t0001g0174 a0003c0005t0001g0177 a0004c0007t0001g0137	100	292	0.3425	-78	c.10+ others(93): Show c.10+2345_10+2422delCTGTTCGGAAGGAACACAGCCCTGTAGCCA CCCTGACTTTTGTTCAGAAGGAACACAGCCCTGTAGCCACCCTGACTT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45852563	AGAAGGAA others(71): Show AGAAGGAACACAGCCCTGCAGCCATGCTGATTTTTGTTCAGAAGGAACAC AGCCCTGCGGCCACCCTGACTTCTGTTCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01928.hp2 HG01943.hp1 others(30): Show HG01243.hp1 HG01928.hp2 HG01943.hp1 HG02027.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02257.hp1 HG02280.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG03195.hp1 HG03471.hp1 HG04204.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18951.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18982.hp2 NA18985.hp1 NA19002.hp2 NA19005.hp1 NA19064.hp2 NA19065.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0021	a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0029 others(30): Show a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0098 a0001c0001t0003g0118 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0015g0003 a0001c0001t0021g0085	33	292	0.1130	-78	c.10+ others(93): Show c.10+2526_10+2603delGGCCACCCTGACTTCTGTTCGGAAGGAACA CAGCCCTGCAGCCATGCTGATTTTTGTTCAGAAGGAACACAGCCCTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45898286	CCCCTCTG others(71): Show CCCCTCTGCACACCGTCCTCACAGTCTCCCTCTGCACACCGTCCTCACAG CCTCCCTCTGCACACCATCCTCATGGTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp2 others(130): Show HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18970.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0006 others(2): Show a0001c0001 a0001c0002 a0002c0006 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0024 a0001c0002t0001 a0002c0006t0001 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(130): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0289 a0001c0001t0002g0001 a0001c0001t0002g0034 a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0231 a0001c0001t0002g0241 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0003g0007 a0001c0001t0003g0036 a0001c0001t0003g0051 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0079 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0113 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0013g0180 a0001c0001t0024g0236 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0150 a0001c0002t0001g0152 a0002c0006t0001g0174 a0003c0005t0001g0177 a0004c0007t0001g0137	133	292	0.4555	-78	c.166 others(95): Show c.166-1289_166-1212delTCTCCCTCTGCACACCGTCCTCACAGCC TCCCTCTGCACACCATCCTCATGGTCTCCCTCTGCACACCGTCCTCACAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH15_chr10_53797771_54806231	54307018	ATATATAT others(71): Show ATATATATATATGTGTGTGTGTGTATATATATATATATATATATATATAT ATATATATATATACATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0001 a0017c0024t0001	a0017c0024t0001g0053 a0017c0024t0001g0053	1	102	0.0098	-78	c.876 others(97): Show c.876+10175_876+10252delCACATATATATATATGTATATATATA TATATATATATATATATATATATATATATACACACACACACATATATATA TA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54307038	GTGTATAT others(71): Show GTGTATATATATATATATATATATATATATATATATATATATACATATAT ATATATGTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	102	0.0098	-78	c.876 others(97): Show c.876+10155_876+10232delTATATATATATACACACACACACATA TATATATATGTATATATATATATATATATATATATATATATATATATATA CA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54397841	GACCTTTT others(71): Show GACCTTTTAAAATTAAGATATTCTGTTTCAAAGTCAATGTACAAATTCCC CTAAGTTCTTAAAAAATAGGGGCAGGTTT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0036 a0005c0005t0005g0036	1	102	0.0098	-78	c.158 others(97): Show c.158-18977_158-18900delAAACCTGCCCCTATTTTTTAAGAACT TAGGGGAATTTGTACATTGACTTTGAAACAGAATATCTTAATTTTAAAAG GT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307018	ATATATAT others(71): Show ATATATATATATGTGTGTGTGTGTATATATATATATATATATATATATAT ATATATATATATACATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0012 a0012	a0012c0031 a0012c0031	a0012c0031t0001 a0012c0031t0001	a0012c0031t0001g0051 a0012c0031t0001g0051	1	94	0.0106	-78	c.876 others(97): Show c.876+10175_876+10252delCACATATATATATATGTATATATATA TATATATATATATATATATATATATATATACACACACACACATATATATA TA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307038	GTGTATAT others(71): Show GTGTATATATATATATATATATATATATATATATATATATATACATATAT ATATATGTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0079 a0001c0007t0001g0079	1	94	0.0106	-78	c.876 others(97): Show c.876+10155_876+10232delTATATATATATACACACACACACATA TATATATATGTATATATATATATATATATATATATATATATATATATATA CA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54397841	GACCTTTT others(71): Show GACCTTTTAAAATTAAGATATTCTGTTTCAAAGTCAATGTACAAATTCCC CTAAGTTCTTAAAAAATAGGGGCAGGTTT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0033 a0005c0009t0001g0033	1	94	0.0106	-78	c.158 others(97): Show c.158-18977_158-18900delAAACCTGCCCCTATTTTTTAAGAACT TAGGGGAATTTGTACATTGACTTTGAAACAGAATATCTTAATTTTAAAAG GT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	3/32			chr10	TogoVar
PGBD5_chr1_230309490_230431332	230315995	TAAGTATA others(71): Show TAAGTATATGTGTACACATATATGTATGTGTATACATACATAAGTATATG TGTACACATATATGTATGTGTATACATAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01175.hp1 HG03927.hp2 HG01069.hp2 HG01175.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0094 a0001c0001t0039 a0001c0001t0094	a0001c0001t0039g0063 a0001c0001t0039g0223 a0001c0001t0094g0224 a0001c0001t0039g0063 a0001c0001t0039g0223 a0001c0001t0094g0224	3	288	0.0104	-78	c.73 others(89): Show c.7352_*7429delGTATGTATACACATACATATATGTGTACACATAT ACTTATGTATGTATACACATACATATATGTGTACACATATACTT	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	7/7	7352		chr1	TogoVar
PHF11_chr13_49490953_49533976	49504481	CGCCCGGC others(71): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(126): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02135.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02738.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18991.hp2 NA18997.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp1 NA19078.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19089.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0005t0002	a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0226 others(96): Show a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0226 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0118 a0001c0001t0002g0132 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0287 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0004t0002g0008 a0001c0005t0002g0162 a0001c0005t0002g0178	129	414	0.3116	-78	c.95- others(93): Show c.95-2126_95-2049delTGAGGGGCGCCTCTGCCTGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG	PHF11	ENSG00000136147.18	transcript	ENST00000378319.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
PHRF1_chr11_571470_617222	611796	TATGCCCG others(71): Show TATGCCCGGGGAGCTGTCGGGAGTGGCGGGAATCGGGGCCATGCCCGGGG AGCTGTCGGGAGTGGCGGGAATCGGGGCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0010 a0003c0008t0010	a0003c0008t0010g0068 a0003c0008t0010g0068	1	279	0.0036	-78	c.51 others(86): Show c.51_*128delTCGGGGCCATGCCCGGGGAGCTGTCGGGAGTGGCGGG AATCGGGGCCATGCCCGGGGAGCTGTCGGGAGTGGCGGGAA	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	18/18	51	INFO_REALIGN_3_PRIME	chr11	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(71): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	350	0.0029	-78	c.51 others(89): Show c.5139_*5216delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PIEZO2_chr18_10665247_11154569	10757446	GTGGGGAT others(71): Show GTGGGGATAAGAATGAGCTATGGGGATGAAGATGAAAAATGGAGGATGAG TAGGAGAGACAGAAGATGAGGAGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00609.hp1 others(103): Show HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18945.hp1 NA18957.hp1 NA18957.hp2 NA18970.hp1 NA18970.hp2 NA18994.hp2 NA18998.hp2 NA19005.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(20): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0015 a0017 a0019 a0020 a0021 a0022 a0023 a0026 a0027 a0029 a0030 a0032	a0001c0003 a0001c0006 a0001c0021 others(60): Show a0001c0003 a0001c0006 a0001c0021 a0001c0024 a0001c0039 a0001c0040 a0001c0044 a0001c0047 a0001c0058 a0001c0082 a0001c0084 a0001c0087 a0002c0001 a0002c0015 a0002c0018 a0002c0023 a0002c0038 a0002c0045 a0002c0055 a0002c0069 a0002c0071 a0002c0072 a0002c0074 a0002c0076 a0004c0005 a0004c0022 a0004c0049 a0004c0073 a0004c0075 a0005c0008 a0005c0013 a0005c0046 a0005c0056 a0005c0080 a0006c0086 a0007c0004 a0007c0077 a0009c0034 a0009c0054 a0009c0068 a0009c0070 a0010c0010 a0010c0032 a0011c0085 a0012c0064 a0012c0078 a0012c0079 a0013c0057 a0013c0083 a0015c0019 a0015c0060 a0017c0016 a0019c0030 a0020c0066 a0020c0067 a0021c0031 a0022c0091 a0023c0092 a0026c0035 a0027c0053 a0029c0061 a0030c0048 a0032c0081	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(71): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0006t0001 a0001c0021t0002 a0001c0024t0001 a0001c0039t0001 a0001c0040t0001 a0001c0044t0002 a0001c0047t0002 a0001c0058t0001 a0001c0082t0002 a0001c0084t0001 a0001c0087t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0015t0002 a0002c0018t0001 a0002c0018t0002 a0002c0023t0001 a0002c0023t0002 a0002c0038t0001 a0002c0045t0001 a0002c0055t0002 a0002c0069t0001 a0002c0071t0002 a0002c0072t0001 a0002c0074t0001 a0002c0076t0002 a0004c0005t0001 a0004c0005t0002 a0004c0022t0002 a0004c0049t0002 a0004c0073t0002 a0004c0075t0002 a0005c0008t0001 a0005c0013t0001 a0005c0013t0002 a0005c0046t0001 a0005c0056t0001 a0005c0080t0002 a0006c0086t0001 a0007c0004t0001 a0007c0004t0003 a0007c0077t0006 a0009c0034t0002 a0009c0054t0001 a0009c0068t0001 a0009c0070t0002 a0010c0010t0001 a0010c0010t0002 a0010c0032t0003 a0011c0085t0001 a0012c0064t0002 a0012c0078t0002 a0012c0079t0002 a0013c0057t0002 a0013c0083t0002 a0015c0019t0001 a0015c0060t0003 a0017c0016t0003 a0019c0030t0001 a0019c0030t0003 a0020c0066t0002 a0020c0067t0001 a0021c0031t0001 a0022c0091t0001 a0023c0092t0002 a0026c0035t0001 a0027c0053t0002 a0029c0061t0008 a0030c0048t0001 a0032c0081t0002	a0001c0003t0001g0118 a0001c0003t0002g0029 a0001c0003t0002g0147 others(103): Show a0001c0003t0001g0118 a0001c0003t0002g0029 a0001c0003t0002g0147 a0001c0003t0003g0102 a0001c0006t0001g0099 a0001c0006t0001g0115 a0001c0006t0001g0138 a0001c0006t0001g0148 a0001c0021t0002g0088 a0001c0021t0002g0093 a0001c0024t0001g0156 a0001c0039t0001g0004 a0001c0040t0001g0106 a0001c0044t0002g0073 a0001c0047t0002g0144 a0001c0058t0001g0150 a0001c0082t0002g0092 a0001c0084t0001g0074 a0001c0087t0001g0033 a0002c0001t0001g0011 a0002c0001t0001g0038 a0002c0001t0001g0043 a0002c0001t0001g0055 a0002c0001t0001g0057 a0002c0001t0001g0063 a0002c0001t0001g0087 a0002c0001t0001g0117 a0002c0001t0001g0123 a0002c0001t0001g0135 a0002c0001t0001g0139 a0002c0001t0001g0158 a0002c0001t0002g0039 a0002c0001t0002g0040 a0002c0001t0002g0146 a0002c0001t0002g0151 a0002c0001t0005g0008 a0002c0001t0005g0094 a0002c0015t0002g0107 a0002c0015t0002g0145 a0002c0018t0001g0026 a0002c0018t0002g0068 a0002c0023t0001g0021 a0002c0023t0002g0103 a0002c0038t0001g0024 a0002c0045t0001g0071 a0002c0055t0002g0140 a0002c0069t0001g0136 a0002c0071t0002g0125 a0002c0072t0001g0044 a0002c0074t0001g0028 a0002c0076t0002g0111 a0004c0005t0001g0137 a0004c0005t0002g0006 a0004c0005t0002g0045 a0004c0005t0002g0080 a0004c0022t0002g0042 a0004c0022t0002g0085 a0004c0049t0002g0101 a0004c0073t0002g0062 a0004c0075t0002g0072 a0005c0008t0001g0023 a0005c0008t0001g0027 a0005c0008t0001g0157 a0005c0013t0001g0022 a0005c0013t0001g0049 a0005c0013t0002g0010 a0005c0046t0001g0129 a0005c0056t0001g0061 a0005c0080t0002g0089 a0006c0086t0001g0009 a0007c0004t0001g0120 a0007c0004t0001g0152 a0007c0004t0003g0084 a0007c0004t0003g0149 a0007c0077t0006g0001 a0009c0034t0002g0069 a0009c0054t0001g0077 a0009c0068t0001g0153 a0009c0070t0002g0127 a0010c0010t0001g0076 a0010c0010t0002g0075 a0010c0010t0002g0154 a0010c0032t0003g0086 a0011c0085t0001g0064 a0012c0064t0002g0059 a0012c0078t0002g0141 a0012c0079t0002g0122 a0013c0057t0002g0112 a0013c0083t0002g0132 a0015c0019t0001g0104 a0015c0019t0001g0105 a0015c0060t0003g0078 a0017c0016t0003g0015 a0017c0016t0003g0090 a0019c0030t0001g0079 a0019c0030t0003g0025 a0020c0066t0002g0119 a0020c0067t0001g0051 a0021c0031t0001g0066 a0022c0091t0001g0019 a0023c0092t0002g0046 a0026c0035t0001g0014 a0027c0053t0002g0067 a0029c0061t0008g0109 a0030c0048t0001g0047 a0032c0081t0002g0095	106	158	0.6709	-78	c.392 others(95): Show c.3923+445_3923+522delTCCCTCCTCCTCATCTTCTGTCTCTCCT ACTCATCCTCCATTTTTCATCTTCATCCCCATAGCTCATTCTTATCCCCA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	27/55			chr18	TogoVar
PIH1D1_chr19_49441298_49456814	49444173	TTTTTTTC others(71): Show TTTTTTTCTTTCCTTCCTTCATTCCTTCTTTCTCTGTCTTCCTTCCTTTC CCCTTCCTCCTTCCTTTTTCTTTCTCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG01884.hp2 HG02257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0018 a0004c0004t0001g0018	2	366	0.0055	-78	c.21 others(89): Show c.2131_*2208delGAAGAGAAAGAAAAAGGAAGGAGGAAGGGGAAAG GAAGGAAGACAGAGAAAGAAGGAATGAAGGAAGGAAAGAAAAAA	PIH1D1	ENSG00000104872.11	transcript	ENST00000262265.10	protein_coding		2124		chr19	TogoVar
PJA2_chr5_109329722_109414974	109354491	TATAATAT others(71): Show TATAATATCATAGATATCTATATCGATATTAGATATCTATAATATCTATA GATATCTATATCGATATTAGATATCTATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp1 NA19030.hp1 HG02970.hp2 HG03195.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0329 a0001c0001t0001g0333 a0001c0001t0001g0219 a0001c0001t0001g0329 a0001c0001t0001g0333	3	346	0.0087	-78	c.176 others(97): Show c.1764+1346_1764+1423delTATAGATATCTAATATCGATATAGAT ATCTATAGATATTATAGATATCTAATATCGATATAGATATCTATGATATT AT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKP3_chr11_389209_409908	401500	CCCCCGGC others(71): Show CCCCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCGCTCACCCCCGGCCCCGCTCACA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02004.hp2 HG02056.hp1 others(1): Show HG00673.hp2 HG02004.hp2 HG02056.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0005t0004 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0005t0004 a0001c0006t0001 a0001c0009t0001	a0001c0001t0001g0062 a0001c0005t0004g0002 a0001c0006t0001g0206 others(1): Show a0001c0001t0001g0062 a0001c0005t0004g0002 a0001c0006t0001g0206 a0001c0009t0001g0171	4	216	0.0185	-78	c.173 others(95): Show c.1737+799_1737+876delCGGCCCCGTTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCGCTCACCCCCGGCCCCGCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401949	ACCCCCGG others(71): Show ACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTC CACTGACCCCGGCCCCGCTCACCCCGGAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19030.hp2 HG02258.hp1 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0019 a0001c0005t0001g0025 a0001c0005t0001g0019 a0001c0005t0001g0025	2	216	0.0093	-78	c.173 others(97): Show c.1738-1125_1738-1048delCCGGCCCCGCTCACCCCCGACCCCCG GCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACC CC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G1B_chr12_120317115_120332779	120330537	ACCCTCTC others(71): Show ACCCTCTCTTGGAATTTGTGTGTGTGTGTGTGTGGGTGTGTGTGTGTGTG TTTGTTGTAGTCTCACTCTGTCGCCCAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	404	0.0025	-78	c.-28 others(89): Show c.-2862_-2785delCCTGGGCGACAGAGTGAGACTACAACAAACACAC ACACACACACCCACACACACACACACACAAATTCCAAGAGAGGG	PLA2G1B	ENSG00000170890.14	transcript	ENST00000308366.9	protein_coding		2759		chr12	TogoVar
PLEKHA7_chr11_16772297_17019414	16907623	TGGCCGCC others(71): Show TGGCCGCCCCTACTGGGAAGTAAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	244	0.0041	-78	c.222 others(97): Show c.222-36519_222-36442delGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGGCGG CC	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLXDC2_chr10_19811432_20294856	20126459	AACACACG others(71): Show AACACACGTTATATATGTATATATAACACACACGTTATATATGTATATAT AACACACACGTTATATATGTATATATAAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02280.hp1 HG02897.hp1 others(2): Show HG00642.hp2 HG02280.hp1 HG02897.hp1 HG03492.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0031 a0001c0001t0088 a0001c0001t0116 others(2): Show a0001c0001t0031 a0001c0001t0088 a0001c0001t0116 a0002c0002t0006 a0002c0002t0101	a0001c0001t0031g0004 a0001c0001t0088g0143 a0001c0001t0116g0052 others(2): Show a0001c0001t0031g0004 a0001c0001t0088g0143 a0001c0001t0116g0052 a0002c0002t0006g0151 a0002c0002t0101g0177	5	180	0.0278	-78	c.542 others(97): Show c.542-16701_542-16624delACGTTATATATGTATATATAACACAC ACGTTATATATGTATATATAACACACACGTTATATATGTATATATAACAC AC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126695	CGTTATAT others(71): Show CGTTATATATGTATATATAACACACACGTTATATATGTATATAGAACACA CACGTTATATATGTATATAGAACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp2 HG01069.hp1 others(25): Show HG00323.hp2 HG00673.hp2 HG01069.hp1 HG01106.hp2 HG01192.hp1 HG01975.hp2 HG01978.hp1 HG02080.hp2 HG02129.hp2 HG03239.hp2 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG04228.hp2 NA18747.hp1 NA18945.hp2 NA18954.hp1 NA18961.hp1 NA18965.hp2 NA18973.hp2 NA18978.hp2 NA18982.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0025 a0001c0001t0057 others(21): Show a0001c0001t0001 a0001c0001t0025 a0001c0001t0057 a0001c0001t0074 a0002c0002t0002 a0002c0002t0007 a0002c0002t0034 a0002c0002t0035 a0002c0002t0048 a0002c0002t0090 a0002c0002t0091 a0002c0002t0114 a0002c0002t0120 a0003c0003t0009 a0003c0003t0043 a0003c0003t0073 a0003c0003t0080 a0003c0003t0081 a0003c0003t0104 a0003c0003t0107 a0003c0003t0109 a0003c0003t0124 a0004c0004t0008 a0004c0004t0022	a0001c0001t0001g0029 a0001c0001t0025g0026 a0001c0001t0057g0162 others(25): Show a0001c0001t0001g0029 a0001c0001t0025g0026 a0001c0001t0057g0162 a0001c0001t0074g0110 a0002c0002t0002g0167 a0002c0002t0002g0172 a0002c0002t0002g0175 a0002c0002t0007g0037 a0002c0002t0007g0050 a0002c0002t0034g0094 a0002c0002t0035g0116 a0002c0002t0048g0084 a0002c0002t0090g0148 a0002c0002t0091g0149 a0002c0002t0114g0064 a0002c0002t0120g0044 a0003c0003t0009g0020 a0003c0003t0009g0180 a0003c0003t0043g0025 a0003c0003t0073g0031 a0003c0003t0080g0093 a0003c0003t0081g0092 a0003c0003t0104g0081 a0003c0003t0107g0070 a0003c0003t0109g0039 a0003c0003t0124g0059 a0004c0004t0008g0016 a0004c0004t0022g0065	28	180	0.1556	-78	c.542 others(97): Show c.542-16583_542-16506delTAACACACACGTTATATATGTATATA GAACACACACGTTATATATGTATATAGAACACACATGTTATATATGTATA TA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNC1_chr12_94143577_94312675	94177152	TATATATA others(71): Show TATATATATGTATATATATATATACGTATATATATGTATATATATATACG TATATATATATGTGTGTGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG01081.hp1 others(50): Show HG00438.hp1 HG00738.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01515.hp2 HG01978.hp1 HG02145.hp1 HG02257.hp2 HG02559.hp2 HG02572.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18957.hp1 NA18965.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18988.hp2 NA18992.hp2 NA19000.hp1 NA19001.hp2 NA19030.hp2 NA19070.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0018 a0001c0028 a0001c0034 a0001c0035 a0001c0044 a0002c0019 a0002c0021 a0002c0030 a0003c0025	a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 others(27): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0017 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0007t0003 a0001c0007t0013 a0001c0008t0001 a0001c0008t0004 a0001c0009t0003 a0001c0012t0002 a0001c0014t0003 a0001c0018t0001 a0001c0018t0011 a0001c0028t0001 a0001c0034t0001 a0001c0035t0001 a0001c0044t0001 a0002c0019t0001 a0002c0021t0001 a0002c0021t0002 a0002c0030t0003 a0003c0025t0003	a0001c0001t0001g0008 a0001c0001t0001g0153 a0001c0001t0001g0289 others(50): Show a0001c0001t0001g0008 a0001c0001t0001g0153 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0015g0064 a0001c0002t0001g0080 a0001c0002t0001g0190 a0001c0002t0001g0241 a0001c0002t0001g0246 a0001c0002t0004g0239 a0001c0003t0001g0056 a0001c0003t0001g0058 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0176 a0001c0003t0001g0285 a0001c0003t0001g0288 a0001c0003t0004g0182 a0001c0003t0005g0291 a0001c0003t0009g0157 a0001c0003t0017g0156 a0001c0004t0001g0191 a0001c0004t0001g0198 a0001c0004t0001g0243 a0001c0005t0001g0230 a0001c0005t0001g0231 a0001c0005t0001g0240 a0001c0005t0001g0242 a0001c0005t0001g0253 a0001c0007t0001g0012 a0001c0007t0003g0060 a0001c0007t0013g0002 a0001c0008t0001g0287 a0001c0008t0004g0286 a0001c0009t0003g0237 a0001c0012t0002g0213 a0001c0014t0003g0016 a0001c0014t0003g0017 a0001c0018t0001g0057 a0001c0018t0011g0177 a0001c0028t0001g0055 a0001c0034t0001g0194 a0001c0035t0001g0234 a0001c0044t0001g0172 a0002c0019t0001g0059 a0002c0021t0001g0014 a0002c0021t0002g0015 a0002c0030t0003g0063 a0003c0025t0003g0278	53	298	0.1779	-78	c.120 others(97): Show c.1204-4285_1204-4208delGTATATATATATATACGTATATATAT GTATATATATATACGTATATATATATGTGTGTGTATATATATACATATAT AT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PODXL2_chr3_127624185_127677802	127643960	TTTTTACA others(71): Show TTTTTACATTTAAGTCCAATCTAGCTGTAATTTATTTTTGTGTGTGGTGT AAGATAAGGATCTAATTTCATTTTCTCCA	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18974.hp2 NA18747.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0189 a0001c0001t0001g0190	2	402	0.0050	-78	c.349 others(95): Show c.349+4439_349+4516delTTTACATTTAAGTCCAATCTAGCTGTAA TTTATTTTTGTGTGTGGTGTAAGATAAGGATCTAATTTCATTTTCTCCAT	PODXL2	ENSG00000114631.11	transcript	ENST00000342480.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
POFUT2_chr21_45258935_45292895	45268926	CGCCTGGC others(71): Show CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGCAAAGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0198 a0001c0001t0012g0198	1	436	0.0023	-78	c.101 others(95): Show c.1012+835_1012+912delAGAGGGGCTCTTTGCTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGC	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	7/8			chr21	TogoVar
POLD1_chr19_50379347_50423014	50400132	GATTTTTT others(71): Show GATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGATTTTCCTCTGT TGCCCAGGCTGGAGTGCACCTGGCCAATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	336	0.0030	-78	c.316 others(93): Show c.316+676_316+753delTTGAGACAAGATTTTCCTCTGTTGCCCAGG CTGGAGTGCACCTGGCCAATAATTTTTTTTTTTTTTTTTTTTTTTTTT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLE_chr12_132618762_132692342	132688629	TGCGGGTG others(71): Show TGCGGGTGAAGACAGGGCCAGGGGAGCGGGTCTGCGGGGCACGGGTGAAG ACAGGGCGAGGGGAGCGGGTCTTGGGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03491.hp1 HG03492.hp2 others(2): Show HG03017.hp1 HG03491.hp1 HG03492.hp2 NA18962.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0067 a0001c0001t0001g0078 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0111	5	292	0.0171	-78	c.-13 others(89): Show c.-1392_-1315delGCCCCCAAGACCCGCTCCCCTCGCCCTGTCTTCA CCCGTGCCCCGCAGACCCGCTCCCCTGGCCCTGTCTTCACCCGC	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding		1288		chr12	TogoVar
POR_chr7_75910155_75991855	75988705	GTGGAGGG others(71): Show GTGGAGGGGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGCCAGGTGGGGGG CTGGAGGGGAAGAAGGCCGGGTGGGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00621.hp1 others(40): Show HG00323.hp1 HG00438.hp2 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01928.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02148.hp2 HG02293.hp1 HG02602.hp2 HG02630.hp2 HG02698.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03831.hp2 HG04115.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18954.hp2 NA18971.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18985.hp2 NA18990.hp2 NA19060.hp1 NA19070.hp2 NA19079.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0005c0021	a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 others(2): Show a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0005c0021t0001	a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0059 others(40): Show a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0090 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0195 a0001c0002t0001g0219 a0001c0002t0001g0246 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0005t0001g0027 a0001c0005t0001g0029 a0001c0005t0001g0132 a0001c0006t0001g0007 a0005c0021t0001g0102	43	278	0.1547	-78	c.22 others(89): Show c.2225_*2302delTGGAGGGGAAGGCCGGGTGGGGGGCTGGAGGGGA AGGCCAGGTGGGGGGCTGGAGGGGAAGAAGGCCGGGTGGGGGGC	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1851		chr7	TogoVar
POTEG_chr14_19397486_19439341	19432404	ACACACAC others(71): Show ACACACACATGTATATATATGTATATACGTATATATATATATACATATAT ATATACATATATACATATATATACATGTG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0038 a0004c0038	a0004c0038t0005 a0004c0038t0005	a0004c0038t0005g0025 a0004c0038t0005g0025	1	111	0.0090	-78	c.521 others(95): Show c.521+1287_521+1364delCACATGTATATATATGTATATATGTATA TATATATGTATATATATATATACGTATATACATATATATACATGTGTGTG	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding	1/10			chr14	TogoVar
POTEM_chr14_18962434_19008752	18969279	ATATACAC others(71): Show ATATACACATGTATATATATGTATATACGTATATATATGTATATATATAT ATATACGTATATACATATATATACATGTG	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	67	0.0149	-78	c.521 others(95): Show c.521+1278_521+1355delCACATGTATATATATGTATATACGTATA TATATGTATATATATATATATACGTATATACATATATATACATGTGTATA	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP4R2_chr3_72991811_73074198	73016735	TTTTATTA others(71): Show TTTTATTATTTTTTTTTTTTAATACAGAGTCTCACTCTGTCACCCATTCT GTTAACTGGCTTTACTGGTTCATTGTTTC	T T	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0018 a0001c0002t0023g0018	1	360	0.0028	-78	c.116 others(97): Show c.116+18581_116+18658delATTATTTTTTTTTTTTAATACAGAGT CTCACTCTGTCACCCATTCTGTTAACTGGCTTTACTGGTTCATTGTTTCT TT	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRDM15_chr21_41793225_41884344	41806006	TCACCACC others(71): Show TCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCACC ACCATCACCATCACCACCACCATCACCAC	T T	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0214 a0001c0003t0001g0214	1	406	0.0025	-78	c.265 others(97): Show c.2653-1470_2653-1393delGTGGTGATGGTGGTGGTGATGGTGAT GGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3433482	GCTGCCTG others(71): Show GCTGCCTGTCTGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCT GGGATGGCCCGCCCTGCCCACGCGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01070.hp1 others(32): Show HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01081.hp2 HG01109.hp2 HG01496.hp1 HG01517.hp1 HG02004.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19080.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0002c0003 a0002c0030 a0003c0005 a0005c0024	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(23): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0023 a0001c0001t0045 a0001c0001t0046 a0001c0001t0082 a0001c0001t0083 a0001c0001t0086 a0001c0001t0087 a0001c0002t0001 a0001c0002t0050 a0001c0002t0084 a0001c0004t0007 a0001c0004t0010 a0001c0004t0063 a0001c0004t0081 a0001c0006t0011 a0001c0008t0085 a0001c0012t0009 a0002c0003t0007 a0002c0003t0009 a0002c0003t0051 a0002c0030t0047 a0003c0005t0009 a0005c0024t0007	a0001c0001t0001g0161 a0001c0001t0007g0054 a0001c0001t0011g0022 others(32): Show a0001c0001t0001g0161 a0001c0001t0007g0054 a0001c0001t0011g0022 a0001c0001t0011g0047 a0001c0001t0023g0112 a0001c0001t0045g0024 a0001c0001t0046g0042 a0001c0001t0082g0067 a0001c0001t0083g0027 a0001c0001t0086g0033 a0001c0001t0087g0062 a0001c0002t0001g0058 a0001c0002t0050g0017 a0001c0002t0084g0138 a0001c0004t0007g0038 a0001c0004t0007g0063 a0001c0004t0007g0071 a0001c0004t0010g0032 a0001c0004t0010g0034 a0001c0004t0010g0130 a0001c0004t0010g0174 a0001c0004t0063g0016 a0001c0004t0081g0031 a0001c0006t0011g0039 a0001c0006t0011g0065 a0001c0008t0085g0003 a0001c0012t0009g0113 a0001c0012t0009g0193 a0002c0003t0007g0103 a0002c0003t0009g0078 a0002c0003t0051g0079 a0002c0030t0047g0206 a0003c0005t0009g0010 a0003c0005t0009g0136 a0005c0024t0007g0173	35	210	0.1667	-78	c.369 others(94): Show c.3697-107_3697-30delTGGGATGGCCCGCCCTGCCCACGCGCTCA CCTGCCTGTCTGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAA1_chr5_40754389_40803374	40800917	CCGGCCAG others(71): Show CCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	402	0.0025	-78	c.-28 others(89): Show c.-2806_-2729delAGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCTGGCCG	PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding		2544		chr5	TogoVar
PRKAG2_chr7_151551127_151882115	151874240	TATGTATA others(71): Show TATGTATATGTATATGATGTATATGTATATGTATATGATATATATGTATA TGTATATGATGTATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG02809.hp2 others(1): Show HG00639.hp1 HG01109.hp2 HG02809.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0015 a0001c0006t0002 a0001c0001t0002 a0001c0001t0015 a0001c0006t0002	a0001c0001t0002g0110 a0001c0001t0002g0139 a0001c0001t0015g0240 others(1): Show a0001c0001t0002g0110 a0001c0001t0002g0139 a0001c0001t0015g0240 a0001c0006t0002g0104	4	252	0.0159	-78	c.114 others(95): Show c.114+2189_114+2266delCATATACATATACATATACATCATATAC ATATACATATATATCATATACATATACATATACATCATATACATATACAT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798890	GTGGTGGT others(71): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02615.hp1 others(1): Show HG01884.hp2 HG02055.hp2 HG02615.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0014 a0001c0002t0064 a0001c0002t0009 a0001c0002t0014 a0001c0002t0064	a0001c0002t0009g0110 a0001c0002t0014g0041 a0001c0002t0014g0051 others(1): Show a0001c0002t0009g0110 a0001c0002t0014g0041 a0001c0002t0014g0051 a0001c0002t0064g0038	4	178	0.0225	-78	c.185 others(97): Show c.1855-4953_1855-4876delATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGG TG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123409	GGTGGTGG others(71): Show GGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTG TGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0259 a0001c0003t0001g0259	1	286	0.0035	-78	c.335 others(97): Show c.335-11838_335-11761delTGTGGTGGTTAGGGTCGTGGCGGTGG TTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGG GT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	52302211	TACATGTA others(71): Show TACATGTATACACATGTATATACACACATATGTATACACATGTATACACA CACATATGTATACACATGTATATACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0056 a0001c0007t0004g0056	1	64	0.0156	-78	c.83 others(89): Show c.8312_*8389delACATGTATACACATGTATATACACACATATGTAT ACACATGTATACACACACATATGTATACACATGTATATACACAC	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding		3862		chr10	TogoVar
PRPF8_chr17_1645629_1689867	1689349	ATCCCGGA others(71): Show ATCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCGCTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	291	0.0034	-78	c.-46 others(89): Show c.-4659_-4582delGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGCGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4483		chr17	TogoVar
PSD3_chr8_18522303_19018703	18594132	TTATATAT others(71): Show TTATATATATATTATATAATATATATTATTATATACATATTATATAATAT ATATTATTATATACATATTATATAATATA	T T	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0220 a0002c0003t0004g0220	1	228	0.0044	-78	c.248 others(97): Show c.2481+6154_2481+6231delTATATTATATAATATGTATATAATAA TATATATTATATAATATGTATATAATAATATATATTATATAATATATATA TA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73183966	GGGCAGAG others(71): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGAGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02486.hp1 HG02809.hp2 others(3): Show HG01074.hp2 HG02486.hp1 HG02809.hp2 HG03471.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0019 a0001c0001t0027 a0001c0001t0011 a0001c0001t0019 a0001c0001t0027	a0001c0001t0011g0306 a0001c0001t0011g0308 a0001c0001t0011g0309 others(3): Show a0001c0001t0011g0306 a0001c0001t0011g0308 a0001c0001t0011g0309 a0001c0001t0011g0310 a0001c0001t0019g0311 a0001c0001t0027g0307	6	378	0.0159	-78	c.481 others(95): Show c.481-2883_481-2806delAGAGGGGCTCCTCACTTCCCAGTAGGAG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSPC1_chr13_19697500_19787945	19779572	CGCCCGGC others(71): Show CGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0037 a0001c0001t0011g0037	1	258	0.0039	-78	c.372 others(95): Show c.372+2736_372+2813delAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PTGFR_chr1_78485974_78545701	78532404	ATGTGTAT others(71): Show ATGTGTATATATATGTGTGTATATATGTGTATATATTTGTGTGTGTATAT GTGTATATATTTGTGTGTGTATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	386	0.0026	-78	c.799 others(95): Show c.799-3998_799-3921delGTATATATATGTGTGTATATATGTGTAT ATATTTGTGTGTGTATATGTGTATATATTTGTGTGTGTATATATGTGTGT	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPN12_chr7_77532295_77645069	77533544	CCCACCCG others(71): Show CCCACCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCCCACCTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19079.hp1 NA19088.hp2 NA19056.hp1 NA19079.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0177 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0177	3	310	0.0097	-78	c.-40 others(89): Show c.-4002_-3925delCCACCCGGACGGGGCGGCTGGCCAGGCAGAGGGG CTCCCCACCTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3750		chr7	TogoVar
PTPN9_chr15_75458251_75584315	75503623	GCCCCGTC others(71): Show GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCTGGCCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19057.hp2 HG02056.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0245 a0001c0001t0002g0222 a0001c0001t0002g0245	2	326	0.0061	-78	c.968 others(95): Show c.968+1974_968+2051delTGGCTGGCCAGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75503922	CGGCCAGC others(71): Show CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCG	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	326	0.0031	-78	c.968 others(95): Show c.968+1675_968+1752delCGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	7/12			chr15	TogoVar
PTPRD_chr9_8309246_10618002	8782058	CGTTTATG others(71): Show CGTTTATGGTATAAAACATACCATAATGTTTATGGTATAAAACATACCAT AATGTTTATGGTATAAAACATACCATAAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG02559.hp1 others(3): Show HG01099.hp2 HG01109.hp2 HG02559.hp1 HG03225.hp2 HG03834.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0004c0009	a0001c0001t0002 a0001c0002t0003 a0001c0002t0015 others(3): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0015 a0001c0003t0004 a0001c0011t0005 a0004c0009t0006	a0001c0001t0002g0013 a0001c0002t0003g0024 a0001c0002t0015g0010 others(3): Show a0001c0001t0002g0013 a0001c0002t0003g0024 a0001c0002t0015g0010 a0001c0003t0004g0027 a0001c0011t0005g0021 a0004c0009t0006g0007	6	34	0.1765	-78	c.-10 others(99): Show c.-103-48190_-103-48113delATTATGGTATGTTTTATACCATAA ACATTATGGTATGTTTTATACCATAAACATTATGGTATGTTTTATACCAT AAAC	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRO_chr12_15317508_15603331	15513084	GAAAGAAA others(71): Show GAAAGAAAGAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGAAAGAAAGAAAGAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG01109.hp2 others(22): Show HG00423.hp1 HG00735.hp2 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01243.hp1 HG01516.hp1 HG02300.hp1 HG02738.hp1 HG03017.hp2 HG03195.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 NA18946.hp2 NA18961.hp2 NA18989.hp2 NA19056.hp1 NA19066.hp2 NA19240.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0002c0011t0001	a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0128 others(22): Show a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0128 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0006g0094 a0001c0001t0008g0011 a0001c0002t0001g0008 a0001c0002t0001g0018 a0001c0002t0001g0117 a0001c0002t0001g0141 a0001c0002t0008g0052 a0001c0003t0001g0051 a0001c0004t0001g0005 a0001c0004t0001g0007 a0001c0004t0001g0017 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0043 a0001c0004t0001g0055 a0001c0004t0001g0142 a0001c0004t0001g0159 a0001c0007t0001g0053 a0001c0007t0001g0112 a0002c0011t0001g0092	25	164	0.1524	-78	c.146 others(97): Show c.1465-2411_1465-2334delAGAAAGAAGAAAGAAAGAAAGAAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAAAGA AA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar

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