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
POU2F1_chr1_167215886_167432340	167237746	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0286 a0001c0001t0078g0286	1	292	0.0034	28	c.61+ others(45): Show c.61+16789_61+16790insGTGTGTATATATATATATATATATATAT	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
POU6F1_chr12_51181936_51223062	51219847	A A	ATATACAT others(21): Show ATATACATATGTACGTGTATGTATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19081.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0012	a0001c0001 a0002c0002 a0006c0012 others(2): Show a0001c0001 a0002c0002 a0006c0012 a0007c0010 a0012c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0051 a0001c0001t0052 a0001c0001t0057 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0074 a0001c0001t0078 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0098 a0001c0001t0100 a0001c0001t0102 a0001c0001t0103 a0002c0002t0003 a0002c0002t0005 a0002c0002t0025 a0002c0002t0037 a0006c0012t0005 a0007c0010t0001 a0012c0013t0020	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0021 others(145): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0002g0124 a0001c0001t0003g0108 a0001c0001t0003g0116 a0001c0001t0003g0131 a0001c0001t0003g0169 a0001c0001t0003g0174 a0001c0001t0003g0181 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0198 a0001c0001t0003g0208 a0001c0001t0003g0211 a0001c0001t0004g0016 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0109 a0001c0001t0004g0113 a0001c0001t0004g0117 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0155 a0001c0001t0004g0162 a0001c0001t0004g0190 a0001c0001t0004g0192 a0001c0001t0004g0205 a0001c0001t0004g0215 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0005g0018 a0001c0001t0005g0140 a0001c0001t0005g0148 a0001c0001t0005g0168 a0001c0001t0005g0176 a0001c0001t0005g0210 a0001c0001t0005g0224 a0001c0001t0006g0147 a0001c0001t0006g0149 a0001c0001t0008g0166 a0001c0001t0008g0231 a0001c0001t0009g0011 a0001c0001t0009g0122 a0001c0001t0009g0138 a0001c0001t0009g0156 a0001c0001t0009g0157 a0001c0001t0009g0172 a0001c0001t0009g0182 a0001c0001t0009g0221 a0001c0001t0010g0035 a0001c0001t0010g0355 a0001c0001t0010g0357 a0001c0001t0010g0358 a0001c0001t0010g0359 a0001c0001t0010g0360 a0001c0001t0010g0361 a0001c0001t0011g0129 a0001c0001t0011g0170 a0001c0001t0011g0171 a0001c0001t0011g0173 a0001c0001t0011g0186 a0001c0001t0013g0074 a0001c0001t0014g0158 a0001c0001t0014g0163 a0001c0001t0015g0111 a0001c0001t0015g0123 a0001c0001t0015g0125 a0001c0001t0015g0200 a0001c0001t0015g0202 a0001c0001t0016g0006 a0001c0001t0016g0014 a0001c0001t0019g0110 a0001c0001t0019g0206 a0001c0001t0020g0217 a0001c0001t0022g0033 a0001c0001t0022g0348 a0001c0001t0022g0349 a0001c0001t0024g0017 a0001c0001t0025g0183 a0001c0001t0028g0141 a0001c0001t0029g0015 a0001c0001t0033g0188 a0001c0001t0034g0013 a0001c0001t0035g0114 a0001c0001t0035g0165 a0001c0001t0036g0153 a0001c0001t0036g0184 a0001c0001t0038g0227 a0001c0001t0039g0128 a0001c0001t0039g0201 a0001c0001t0043g0350 a0001c0001t0043g0352 a0001c0001t0051g0041 a0001c0001t0052g0160 a0001c0001t0057g0178 a0001c0001t0064g0290 a0001c0001t0065g0159 a0001c0001t0068g0291 a0001c0001t0074g0187 a0001c0001t0078g0161 a0001c0001t0081g0204 a0001c0001t0082g0189 a0001c0001t0084g0197 a0001c0001t0085g0152 a0001c0001t0086g0199 a0001c0001t0087g0229 a0001c0001t0092g0164 a0001c0001t0093g0222 a0001c0001t0094g0126 a0001c0001t0095g0127 a0001c0001t0098g0115 a0001c0001t0100g0343 a0001c0001t0102g0340 a0001c0001t0103g0342 a0002c0002t0003g0146 a0002c0002t0005g0119 a0002c0002t0025g0118 a0002c0002t0037g0120 a0002c0002t0037g0130 a0006c0012t0005g0185 a0007c0010t0001g0207 a0012c0013t0020g0216	167	440	0.3796	28	c.-22 others(39): Show c.-2254_-2253insCACACATACATACACGTACATATGTATA	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding		1786		chr12	TogoVar
POU6F1_chr12_51181936_51223062	51219905	A A	ATACATAT others(21): Show ATACATATGTACGTGTATGTATGTGTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01106.hp1 HG01175.hp1 others(33): Show HG00558.hp1 HG01106.hp1 HG01175.hp1 HG01257.hp2 HG01515.hp1 HG01975.hp1 HG01978.hp1 HG02074.hp1 HG02258.hp1 HG02523.hp2 HG02723.hp1 HG02965.hp2 HG03209.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18966.hp1 NA18966.hp2 NA18972.hp1 NA18977.hp2 NA18981.hp2 NA19000.hp1 NA19005.hp2 NA19010.hp2 NA19055.hp1 NA19090.hp2 NA19091.hp1 NA21309.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0005c0005 a0009c0008 a0001c0001 a0005c0005 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0019 a0001c0001t0058 a0001c0001t0066 a0001c0001t0067 a0001c0001t0072 a0001c0001t0083 a0001c0001t0090 a0001c0001t0099 a0005c0005t0002 a0009c0008t0003	a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 others(30): Show a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0103 a0001c0001t0003g0082 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0004g0005 a0001c0001t0006g0079 a0001c0001t0011g0101 a0001c0001t0011g0102 a0001c0001t0019g0085 a0001c0001t0019g0089 a0001c0001t0058g0097 a0001c0001t0066g0094 a0001c0001t0067g0088 a0001c0001t0072g0106 a0001c0001t0083g0090 a0001c0001t0090g0339 a0001c0001t0099g0105 a0005c0005t0002g0012 a0009c0008t0003g0104	36	440	0.0818	28	c.-23 others(39): Show c.-2312_-2311insAACACACATACATACACGTACATATGTA	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding		1844		chr12	TogoVar
POU6F1_chr12_51181936_51223062	51219905	A A	ATACATAT others(21): Show ATACATATGTATGTGTATGTATGTGTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(24): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG02040.hp2 HG02080.hp2 HG02155.hp1 HG03017.hp2 NA18946.hp2 NA18949.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18982.hp1 NA18988.hp2 NA18999.hp1 NA19007.hp1 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0014	a0001c0001 a0003c0003 a0011c0009 others(1): Show a0001c0001 a0003c0003 a0011c0009 a0014c0007	a0001c0001t0007 a0001c0001t0030 a0001c0001t0044 others(11): Show a0001c0001t0007 a0001c0001t0030 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0003c0003t0007 a0003c0003t0030 a0003c0003t0107 a0011c0009t0106 a0014c0007t0046	a0001c0001t0007g0365 a0001c0001t0007g0375 a0001c0001t0007g0380 others(23): Show a0001c0001t0007g0365 a0001c0001t0007g0375 a0001c0001t0007g0380 a0001c0001t0007g0382 a0001c0001t0007g0383 a0001c0001t0007g0385 a0001c0001t0030g0374 a0001c0001t0030g0381 a0001c0001t0044g0373 a0001c0001t0044g0384 a0001c0001t0045g0367 a0001c0001t0045g0372 a0001c0001t0046g0387 a0001c0001t0108g0369 a0001c0001t0109g0366 a0001c0001t0110g0379 a0001c0001t0111g0370 a0003c0003t0007g0036 a0003c0003t0007g0371 a0003c0003t0007g0376 a0003c0003t0007g0377 a0003c0003t0007g0388 a0003c0003t0030g0364 a0003c0003t0107g0386 a0011c0009t0106g0378 a0014c0007t0046g0368	27	440	0.0614	28	c.-23 others(39): Show c.-2312_-2311insAACACACATACATACACATACATATGTA	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding		1844		chr12	TogoVar
POU6F1_chr12_51181936_51223062	51219921	A A	ATGTATGT others(21): Show ATGTATGTGTGTGTATATACATATGTACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02486.hp2 others(3): Show HG01167.hp1 HG01169.hp2 HG02486.hp2 HG02572.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0028 a0001c0001t0033 others(2): Show a0001c0001t0014 a0001c0001t0028 a0001c0001t0033 a0001c0001t0079 a0001c0001t0080	a0001c0001t0014g0233 a0001c0001t0014g0237 a0001c0001t0028g0235 others(3): Show a0001c0001t0014g0233 a0001c0001t0014g0237 a0001c0001t0028g0235 a0001c0001t0033g0234 a0001c0001t0079g0238 a0001c0001t0080g0239	6	440	0.0136	28	c.-23 others(39): Show c.-2328_-2327insCGTACATATGTATATACACACACATACA	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding		1860		chr12	TogoVar
POU6F2_chr7_38972909_39473601	39005484	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0037 a0002c0004t0002g0037	1	170	0.0059	28	c.105 others(47): Show c.105+27430_105+27457dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39068490	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG04228.hp1 HG00438.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0003 a0002c0008t0006 a0001c0001t0003 a0002c0008t0006	a0001c0001t0003g0162 a0002c0008t0006g0152 a0001c0001t0003g0162 a0002c0008t0006g0152	2	170	0.0118	28	c.106 others(47): Show c.106-17353_106-17352insTATATATATATATATATATATATATA TA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39278088	A A	AGAGGGAG others(21): Show AGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	170	0.0059	28	c.599 others(47): Show c.599-61533_599-61532insAGGGAGGGAGGGAGGGAGGGAGGGAG GG	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39397814	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0080 a0001c0005t0013g0081 a0001c0005t0013g0080 a0001c0005t0013g0081	2	170	0.0118	28	c.973 others(45): Show c.973-8766_973-8765insTATATATATATATATATATATATATATA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39419072	C C	CACACATA others(21): Show CACACATATATACGTATATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG01256.hp2 others(5): Show HG00621.hp2 HG00639.hp2 HG01256.hp2 HG02083.hp2 HG02735.hp1 HG04184.hp1 NA18964.hp2 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0001c0001t0023 a0002c0004t0003 others(1): Show a0001c0001t0003 a0001c0001t0023 a0002c0004t0003 a0002c0004t0024	a0001c0001t0003g0027 a0001c0001t0003g0039 a0001c0001t0003g0096 others(5): Show a0001c0001t0003g0027 a0001c0001t0003g0039 a0001c0001t0003g0096 a0001c0001t0023g0077 a0002c0004t0003g0009 a0002c0004t0003g0075 a0002c0004t0003g0132 a0002c0004t0024g0103	8	170	0.0471	28	c.111 others(49): Show c.1113+12351_1113+12378dupGTGTATATATACACATATATACGT ATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PP2D1_chr3_19980346_20017264	20012956	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG03540.hp2 HG00140.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0142 a0001c0001t0003g0088 a0001c0001t0001g0142 a0001c0001t0003g0088	2	396	0.0051	28	c.-88 others(37): Show c.-885_-884insTATATATATATATATATATATATATATA	PP2D1	ENSG00000183977.14	transcript	ENST00000389050.5	protein_coding		693		chr3	TogoVar
PPA2_chr4_105364077_105479062	105450601	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18957.hp1 HG00140.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0011 a0002c0002t0002g0013 a0002c0002t0001g0011 a0002c0002t0002g0013	2	366	0.0055	28	c.268 others(45): Show c.268-1199_268-1198insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	3/11			chr4	TogoVar
PPA2_chr4_105364077_105479062	105460856	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	366	0.0027	28	c.158 others(45): Show c.158-4112_158-4111insATATATATATATATATATATATATATAT	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	1/11			chr4	TogoVar
PPA2_chr4_105364077_105479062	105460858	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	366	0.0027	28	c.158 others(45): Show c.158-4114_158-4113insATATATATATATATATATATATATATAT	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	1/11			chr4	TogoVar
PPARD_chr6_35337558_35433178	35337588	C C	CTTTGGTT others(21): Show CTTTGGTTTAATTAGATCCCATTTGTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	238	0.0042	28	c.-52 others(39): Show c.-5279_-5278insTTTGGTTTAATTAGATCCCATTTGTCAA	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding		4969		chr6	TogoVar
PPARD_chr6_35337558_35433178	35377871	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG02735.hp1 others(12): Show HG00438.hp1 HG00673.hp2 HG02735.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 NA18966.hp1 NA18967.hp1 NA18974.hp2 NA18977.hp2 NA19002.hp1 NA19070.hp1 NA19081.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0024 a0001c0001t0028 others(2): Show a0001c0001t0001 a0001c0001t0024 a0001c0001t0028 a0001c0002t0003 a0001c0004t0001	a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0089 others(12): Show a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0024g0113 a0001c0001t0028g0088 a0001c0002t0003g0038 a0001c0004t0001g0108	15	238	0.0630	28	c.-10 others(49): Show c.-102+30732_-102+30733insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARD_chr6_35337558_35433178	35415778	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01192.hp1 others(7): Show HG00733.hp2 HG01074.hp2 HG01192.hp1 HG01884.hp1 HG02080.hp2 HG02257.hp2 HG02723.hp2 HG02818.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0003 a0001c0002t0005 others(5): Show a0001c0001t0007 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0017 a0001c0002t0018 a0001c0002t0033	a0001c0001t0007g0083 a0001c0002t0003g0032 a0001c0002t0003g0043 others(7): Show a0001c0001t0007g0083 a0001c0002t0003g0032 a0001c0002t0003g0043 a0001c0002t0005g0055 a0001c0002t0006g0029 a0001c0002t0011g0008 a0001c0002t0011g0009 a0001c0002t0017g0041 a0001c0002t0018g0034 a0001c0002t0033g0047	10	238	0.0420	28	c.131 others(45): Show c.131-4324_131-4323insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARGC1B_chr5_149725310_149860022	149729545	T T	TATATATA others(21): Show TATATATACATACATATATATACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0074 a0002c0002t0010g0074	1	320	0.0031	28	c.-79 others(37): Show c.-798_-797insATATATACATACATATATATACACATAC	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding		764		chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149750453	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG02895.hp1 others(4): Show HG00408.hp2 HG00741.hp1 HG02895.hp1 NA19000.hp2 NA19010.hp2 NA19030.hp2 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0021 a0002c0008t0071	a0001c0001t0001g0157 a0001c0001t0001g0312 a0001c0001t0003g0172 others(4): Show a0001c0001t0001g0157 a0001c0001t0001g0312 a0001c0001t0003g0172 a0001c0001t0007g0183 a0001c0001t0007g0187 a0001c0001t0021g0140 a0002c0008t0071g0184	7	320	0.0219	28	c.78+ others(45): Show c.78+20042_78+20069dupATATATATATATATATATATATATATAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149755052	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0011 a0004c0005t0001g0011	1	320	0.0031	28	c.78+ others(45): Show c.78+24653_78+24654insTATATATATATATATATATATATATATA	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPEF2_chr4_75854867_75907452	75877006	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	270	0.0037	28	c.934 others(43): Show c.934-361_934-334dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70277058	A A	ATTATAAT others(21): Show ATTATAATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0055 a0001c0004t0004g0055	1	282	0.0036	28	c.264 others(45): Show c.264+4623_264+4624insTATAATATATATATATATATATATTTTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70279905	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03098.hp1 others(6): Show HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG04184.hp2 NA19240.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0005 a0003c0007 a0001c0003 a0001c0005 a0003c0007	a0001c0003t0003 a0001c0005t0007 a0003c0007t0003 a0001c0003t0003 a0001c0005t0007 a0003c0007t0003	a0001c0003t0003g0014 a0001c0003t0003g0031 a0001c0003t0003g0046 others(6): Show a0001c0003t0003g0014 a0001c0003t0003g0031 a0001c0003t0003g0046 a0001c0003t0003g0281 a0001c0005t0007g0045 a0003c0007t0003g0164 a0003c0007t0003g0165 a0003c0007t0003g0166 a0003c0007t0003g0167	9	282	0.0319	28	c.264 others(45): Show c.264+7482_264+7483insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA2_chr12_81252975_81764350	81462585	C C	CATATATA others(21): Show CATATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	168	0.0060	28	c.304 others(45): Show c.304-4720_304-4719insATATGTATATATATATATATATATATAT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81462585	C C	CATATATA others(21): Show CATATATATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19000.hp1 NA18994.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0156 a0001c0001t0001g0116 a0001c0001t0001g0156	2	168	0.0119	28	c.304 others(45): Show c.304-4720_304-4719insATGTATATATATATATATATATATATAT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPHLN1_chr12_42321167_42447181	42360110	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02129.hp1 HG02135.hp1 others(7): Show HG01192.hp2 HG02129.hp1 HG02135.hp1 HG02523.hp1 HG02970.hp1 HG03486.hp2 HG06807.hp1 NA18966.hp2 NA18973.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 others(7): Show a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0133 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0215	10	376	0.0266	28	c.299 others(45): Show c.299+4901_299+4902insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPIE_chr1_39733882_39761769	39737966	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	434	0.0023	28	c.-93 others(37): Show c.-935_-934insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PPIE	ENSG00000084072.17	transcript	ENST00000324379.10	protein_coding		915		chr1	TogoVar
PPIG_chr2_169579351_169646406	169606591	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0335 a0002c0001t0005g0335	1	382	0.0026	28	c.244 others(43): Show c.244+462_244+463insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PPIG	ENSG00000138398.17	transcript	ENST00000260970.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPIL1_chr6_36849829_36879803	36859811	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	410	0.0024	28	c.212 others(45): Show c.212-3185_212-3158dupCACACACACACACACACACACACACACA	PPIL1	ENSG00000137168.8	transcript	ENST00000373699.6	protein_coding	2/3			chr6	TogoVar
PPIL2_chr22_21661012_21702907	21664958	A A	AAAATACA others(21): Show AAAATACAAAAAATTAGCCTACTAAACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01358.hp1 HG01952.hp2 others(17): Show HG00741.hp1 HG01358.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02280.hp1 HG02559.hp2 HG02735.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG04199.hp2 NA18522.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021	a0001c0001t0003g0021 a0001c0001t0003g0198 a0001c0001t0003g0199 others(16): Show a0001c0001t0003g0021 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0268 a0001c0001t0006g0227 a0001c0001t0006g0267 a0001c0001t0006g0272 a0001c0001t0008g0188 a0001c0001t0008g0189 a0001c0001t0008g0191 a0001c0001t0021g0276	20	378	0.0529	28	c.-11 others(39): Show c.-1142_-1141insAAATACAAAAAATTAGCCTACTAAACAC	PPIL2	ENSG00000100023.20	transcript	ENST00000398831.8	protein_coding		1053		chr22	TogoVar
PPIP5K1_chr15_43528475_43595208	43567118	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03225.hp2 HG02083.hp1 HG03225.hp2	a0007 a0010 a0007 a0010	a0007c0020 a0010c0011 a0007c0020 a0010c0011	a0007c0020t0004 a0010c0011t0002 a0007c0020t0004 a0010c0011t0002	a0007c0020t0004g0087 a0010c0011t0002g0100 a0007c0020t0004g0087 a0010c0011t0002g0100	2	114	0.0175	28	c.304 others(47): Show c.3046+1344_3046+1345insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PPIP5K1	ENSG00000168781.24	transcript	ENST00000420765.6	protein_coding	26/31			chr15	TogoVar
PPIP5K2_chr5_103115301_103217799	103117581	T T	TATATACA others(21): Show TATATACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02602.hp1 NA18974.hp1 others(3): Show HG01106.hp2 HG02602.hp1 NA18974.hp1 NA18981.hp1 NA19004.hp1 NA19086.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0017 a0001c0002 a0009c0017	a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 others(1): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0009c0017t0002	a0001c0002t0002g0204 a0001c0002t0002g0238 a0001c0002t0002g0274 others(3): Show a0001c0002t0002g0204 a0001c0002t0002g0238 a0001c0002t0002g0274 a0001c0002t0009g0256 a0001c0002t0010g0221 a0009c0017t0002g0247	6	284	0.0211	28	c.-31 others(39): Show c.-3192_-3191insATATACACACACACACACACACACACAC	PPIP5K2	ENSG00000145725.21	transcript	ENST00000358359.8	protein_coding		2719		chr5	TogoVar
PPIP5K2_chr5_103115301_103217799	103216088	C C	CTTTAAGT others(21): Show CTTTAAGTTGAACTTAAATGCTCACAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00597.hp2 others(148): Show HG00099.hp2 HG00423.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19074.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0003c0006 a0004c0008 a0008c0016 a0009c0017 a0010c0014 a0011c0011	a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 others(37): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 a0001c0001t0020 a0001c0001t0042 a0001c0001t0043 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0018 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0030 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0048 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0005t0011 a0001c0007t0019 a0002c0003t0002 a0003c0006t0014 a0004c0008t0023 a0004c0008t0047 a0008c0016t0008 a0009c0017t0002 a0010c0014t0002 a0011c0011t0011	a0001c0001t0003g0125 a0001c0001t0005g0009 a0001c0001t0005g0014 others(146): Show a0001c0001t0003g0125 a0001c0001t0005g0009 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0025 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0017g0020 a0001c0001t0017g0023 a0001c0001t0017g0024 a0001c0001t0020g0066 a0001c0001t0020g0081 a0001c0001t0042g0026 a0001c0001t0043g0019 a0001c0002t0002g0196 a0001c0002t0002g0200 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0227 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0246 a0001c0002t0002g0250 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0274 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0280 a0001c0002t0004g0193 a0001c0002t0004g0202 a0001c0002t0004g0217 a0001c0002t0004g0219 a0001c0002t0004g0220 a0001c0002t0004g0222 a0001c0002t0004g0229 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0234 a0001c0002t0004g0248 a0001c0002t0004g0249 a0001c0002t0004g0251 a0001c0002t0004g0252 a0001c0002t0004g0257 a0001c0002t0004g0263 a0001c0002t0004g0267 a0001c0002t0007g0002 a0001c0002t0007g0003 a0001c0002t0007g0169 a0001c0002t0007g0171 a0001c0002t0007g0173 a0001c0002t0007g0174 a0001c0002t0007g0177 a0001c0002t0007g0179 a0001c0002t0008g0004 a0001c0002t0008g0210 a0001c0002t0008g0211 a0001c0002t0008g0264 a0001c0002t0008g0265 a0001c0002t0008g0266 a0001c0002t0009g0241 a0001c0002t0009g0256 a0001c0002t0009g0270 a0001c0002t0009g0271 a0001c0002t0009g0272 a0001c0002t0009g0275 a0001c0002t0009g0279 a0001c0002t0010g0206 a0001c0002t0010g0213 a0001c0002t0010g0221 a0001c0002t0010g0230 a0001c0002t0010g0233 a0001c0002t0010g0235 a0001c0002t0012g0189 a0001c0002t0012g0190 a0001c0002t0012g0191 a0001c0002t0012g0192 a0001c0002t0018g0170 a0001c0002t0018g0175 a0001c0002t0018g0176 a0001c0002t0025g0180 a0001c0002t0025g0181 a0001c0002t0026g0218 a0001c0002t0026g0228 a0001c0002t0027g0166 a0001c0002t0027g0167 a0001c0002t0028g0161 a0001c0002t0028g0162 a0001c0002t0030g0186 a0001c0002t0031g0172 a0001c0002t0033g0168 a0001c0002t0034g0185 a0001c0002t0048g0178 a0001c0002t0050g0226 a0001c0002t0051g0262 a0001c0002t0052g0273 a0001c0002t0053g0278 a0001c0002t0054g0194 a0001c0002t0055g0160 a0001c0002t0056g0201 a0001c0005t0011g0008 a0001c0005t0011g0021 a0001c0005t0011g0022 a0001c0005t0011g0048 a0001c0007t0019g0163 a0001c0007t0019g0164 a0001c0007t0019g0165 a0002c0003t0002g0195 a0002c0003t0002g0214 a0002c0003t0002g0216 a0002c0003t0002g0236 a0002c0003t0002g0242 a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0003t0002g0245 a0003c0006t0014g0197 a0003c0006t0014g0198 a0003c0006t0014g0199 a0004c0008t0023g0182 a0004c0008t0023g0184 a0004c0008t0047g0183 a0008c0016t0008g0004 a0009c0017t0002g0247 a0010c0014t0002g0237 a0011c0011t0011g0049	151	284	0.5317	28	c.14 others(41): Show c.14454_*14455insTTTAAGTTGAACTTAAATGCTCACAGAG	PPIP5K2	ENSG00000145725.21	transcript	ENST00000358359.8	protein_coding		3290		chr5	TogoVar
PPM1B_chr2_44163875_44236472	44167255	A A	AAAAAATA others(21): Show AAAAAATACATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	358	0.0028	28	c.-20 others(39): Show c.-2034_-2033insAAAAATACATATATATATATATATATAT	PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding		1619		chr2	TogoVar
PPM1B_chr2_44163875_44236472	44167255	A A	AAAATACA others(21): Show AAAATACATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02056.hp2 HG03654.hp2 others(2): Show HG00621.hp1 HG02056.hp2 HG03654.hp2 HG03834.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0198 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0198 a0001c0001t0001g0333 a0001c0001t0001g0342	5	358	0.0140	28	c.-20 others(39): Show c.-2034_-2033insAAATACATATATATATATATATATATAT	PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding		1619		chr2	TogoVar
PPM1B_chr2_44163875_44236472	44205354	G G	GGTGTGTG others(21): Show GGTGTGTGTGTCGGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00621.hp1 others(55): Show HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01123.hp2 HG01884.hp2 HG01891.hp1 HG02040.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02523.hp2 HG02683.hp2 HG02735.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03942.hp1 NA18522.hp1 NA18906.hp1 NA18945.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18962.hp1 NA18968.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA18993.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp2 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19088.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0102 others(53): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342	58	358	0.1620	28	c.846 others(45): Show c.846+3319_846+3320insCGGGGTGTGTGTGTGTGTGTGTGTGTGT	PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPM1B_chr2_44163875_44236472	44236402	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	358	0.0028	28	c.56 others(39): Show c.5684_*5685insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding		4931		chr2	TogoVar
PPM1E_chr17_58750854_58990179	58785458	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0300 a0007c0006t0001g0300	1	312	0.0032	28	c.464 others(47): Show c.464+29002_464+29029dupTATATATATATATATATATATATATA TA	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1H_chr12_62638994_62940150	62673715	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03704.hp2 HG00639.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0189 a0001c0001t0003g0106 a0001c0001t0003g0189	2	252	0.0079	28	c.124 others(47): Show c.1246-6414_1246-6387dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	8/9			chr12	TogoVar
PPM1H_chr12_62638994_62940150	62692932	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp1 HG02922.hp1 HG02486.hp1 HG02723.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0043 a0001c0002t0027 a0001c0002t0061 a0001c0001t0043 a0001c0002t0027 a0001c0002t0061	a0001c0001t0043g0048 a0001c0002t0027g0193 a0001c0002t0061g0110 a0001c0001t0043g0048 a0001c0002t0027g0193 a0001c0002t0061g0110	3	252	0.0119	28	c.113 others(46): Show c.1137+976_1137+1003dupGTGTGTGTGTGTGTGTGTGTGTGTGTG T	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	7/9			chr12	TogoVar
PPM1H_chr12_62638994_62940150	62867564	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19043.hp2 NA18990.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0024 a0001c0001t0002 a0001c0002t0024	a0001c0001t0002g0129 a0001c0002t0024g0246 a0001c0001t0002g0129 a0001c0002t0024g0246	2	252	0.0079	28	c.246 others(47): Show c.246-35313_246-35286dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	1/9			chr12	TogoVar
PPM1J_chr1_112704998_112720332	112706476	A A	ACCACACA others(21): Show ACCACACACACACACACACACCCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG03491.hp1 HG02004.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	422	0.0047	28	c.36 others(39): Show c.3686_*3687insGTGTGGGGGTGTGTGTGTGTGTGTGTGG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3521		chr1	TogoVar
PPM1J_chr1_112704998_112720332	112706478	A A	ACCACACA others(21): Show ACCACACACACACACACACACCCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02257.hp2 HG02895.hp1 others(1): Show HG00733.hp1 HG02257.hp2 HG02895.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0003 a0002c0002t0001g0008 a0003c0003t0001g0015 a0001c0001t0001g0003 a0002c0002t0001g0008 a0003c0003t0001g0015	4	422	0.0095	28	c.36 others(39): Show c.3684_*3685insGTGTGGGGGTGTGTGTGTGTGTGTGTGG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3519		chr1	TogoVar
PPM1J_chr1_112704998_112720332	112706480	A A	ACCACACA others(21): Show ACCACACACACACACACACACCCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02056.hp1 HG02280.hp2 others(2): Show HG00609.hp2 HG02056.hp1 HG02280.hp2 NA18973.hp2 NA18997.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0002c0002t0001g0008 a0001c0001t0001g0003 a0002c0002t0001g0008	5	422	0.0119	28	c.36 others(39): Show c.3682_*3683insGTGTGGGGGTGTGTGTGTGTGTGTGTGG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3517		chr1	TogoVar
PPM1J_chr1_112704998_112720332	112706482	A A	ACCACACA others(21): Show ACCACACACACACACACACACCCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 NA20905.hp2 HG02735.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0003c0003t0001g0015 a0001c0001t0001g0001 a0003c0003t0001g0015	2	422	0.0047	28	c.36 others(39): Show c.3680_*3681insGTGTGGGGGTGTGTGTGTGTGTGTGTGG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3515		chr1	TogoVar
PPM1L_chr3_160751231_161083902	160903164	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	206	0.0049	28	c.400 others(47): Show c.400-58570_400-58543dupTGTGTGTGTGTGTGTGTGTGTGTGTG TG	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160944879	C C	CATATGTT others(21): Show CATATGTTATATATAATATGTTATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01255.hp2 HG02055.hp1 others(7): Show HG00323.hp1 HG01255.hp2 HG02055.hp1 HG02809.hp1 NA18956.hp2 NA18982.hp1 NA19030.hp1 NA19070.hp1 NA19072.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0021 a0001c0001t0045	a0001c0001t0001g0021 a0001c0001t0001g0067 a0001c0001t0001g0070 others(7): Show a0001c0001t0001g0021 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0004g0094 a0001c0001t0004g0173 a0001c0001t0004g0199 a0001c0001t0011g0027 a0001c0001t0011g0206 a0001c0001t0021g0187 a0001c0001t0045g0172	10	206	0.0485	28	c.400 others(47): Show c.400-16853_400-16852insGTTATATATAATATGTTATATATAAT AT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPM1L_chr3_160751231_161083902	160945124	T T	TATATAAC others(21): Show TATATAACATGTTATATATAACATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01346.hp2 others(1): Show HG00280.hp1 HG01069.hp2 HG01346.hp2 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0059 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0060	4	206	0.0194	28	c.400 others(47): Show c.400-16612_400-16611insATATAACATGTTATATATAACATATA TG	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3			chr3	TogoVar
PPM1L_chr3_160751231_161083902	161058118	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03688.hp1 HG00639.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0085 a0001c0001t0001g0095	2	206	0.0097	28	c.575 others(45): Show c.575-7261_575-7260insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R12B_chr1_202343699_202597702	202347833	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0234 a0001c0001t0025g0234	1	254	0.0039	28	c.-10 others(39): Show c.-1019_-1018insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding		865		chr1	TogoVar

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