Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PTPRR_chr12_70633079_70925738	70737486	A A	ATTATCTA others(6): Show ATTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0106 a0005c0006t0001g0106	1	204	0.0049	13	c.100 others(32): Show c.1007+8331_1007+8332insGATAGATAGATAA		PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	6/13						chr12	TogoVar
PTPRR_chr12_70633079_70925738	70872694	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp2 HG03710.hp2 others(3): Show HG02486.hp2 HG03130.hp2 HG03710.hp2 NA19002.hp2 NA19030.hp1 NA19058.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0008c0009t0001 a0001c0001t0001 a0008c0009t0001	a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0159 others(3): Show a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0008c0009t0001g0044	6	204	0.0294	13	c.357 others(32): Show c.357+19972_357+19984dupTTTTTTTTTTTTT		PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13						chr12	TogoVar
PTPRR_chr12_70633079_70925738	70884871	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02723.hp2 others(9): Show HG01069.hp1 HG01071.hp1 HG02723.hp2 HG02809.hp1 HG02970.hp1 HG03225.hp1 HG03490.hp1 HG04228.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0014	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0005c0013 a0006c0007 a0007c0008 a0014c0014	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0004c0005t0001 a0005c0013t0002 a0006c0007t0001 a0007c0008t0001 a0014c0014t0001	a0001c0001t0001g0014 a0002c0002t0001g0012 a0002c0002t0001g0097 others(9): Show a0001c0001t0001g0014 a0002c0002t0001g0012 a0002c0002t0001g0097 a0002c0002t0003g0046 a0003c0003t0001g0073 a0003c0003t0001g0138 a0004c0005t0001g0013 a0005c0013t0002g0035 a0006c0007t0001g0083 a0007c0008t0001g0063 a0007c0008t0001g0064 a0014c0014t0001g0005	12	204	0.0588	13	c.357 others(30): Show c.357+7795_357+7807dupTTTTTTTTTTTTT		PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13						chr12	TogoVar
PTPRS_chr19_5200508_5345812	5203846	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA18522.hp2 HG02258.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0022t0013 a0001c0001t0001 a0001c0022t0013	a0001c0001t0001g0148 a0001c0022t0013g0084 a0001c0001t0001g0148 a0001c0022t0013g0084	2	276	0.0073	13	c.29 others(24): Show c.2915_*2927dupAAAAAAAAAAAAA		PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding					1661		chr19	TogoVar
PTPRS_chr19_5200508_5345812	5228345	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03710.hp1 NA18906.hp1 HG03486.hp2 HG03710.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0011 a0001c0003 a0001c0004 a0001c0011	a0001c0003t0004 a0001c0004t0010 a0001c0011t0028 a0001c0003t0004 a0001c0004t0010 a0001c0011t0028	a0001c0003t0004g0207 a0001c0004t0010g0180 a0001c0011t0028g0118 a0001c0003t0004g0207 a0001c0004t0010g0180 a0001c0011t0028g0118	3	276	0.0109	13	c.237 others(30): Show c.2376+970_2376+971insTTTTTTTTTTTTT		PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	16/37						chr19	TogoVar
PTPRS_chr19_5200508_5345812	5232759	A A	AATTGTGG others(6): Show AATTGTGGTAAGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(112): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18960.hp2 NA18963.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18990.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19074.hp1 NA19079.hp2 NA19084.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0010 a0012 a0016	a0001c0001 a0001c0002 a0001c0004 others(28): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0014 a0001c0018 a0001c0020 a0001c0021 a0001c0025 a0001c0026 a0001c0030 a0001c0046 a0001c0053 a0001c0059 a0001c0067 a0001c0069 a0001c0070 a0001c0073 a0002c0043 a0002c0065 a0003c0058 a0003c0071 a0005c0038 a0006c0041 a0010c0052 a0012c0045 a0016c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0002t0015 a0001c0002t0017 a0001c0004t0010 a0001c0005t0001 a0001c0006t0001 a0001c0006t0007 a0001c0006t0011 a0001c0006t0020 a0001c0007t0001 a0001c0007t0006 a0001c0010t0007 a0001c0010t0011 a0001c0010t0020 a0001c0013t0038 a0001c0013t0040 a0001c0014t0001 a0001c0014t0012 a0001c0018t0001 a0001c0020t0001 a0001c0021t0011 a0001c0021t0012 a0001c0025t0014 a0001c0026t0001 a0001c0030t0007 a0001c0046t0012 a0001c0053t0001 a0001c0059t0001 a0001c0067t0012 a0001c0069t0001 a0001c0070t0036 a0001c0073t0030 a0002c0043t0025 a0002c0065t0001 a0003c0058t0001 a0003c0071t0013 a0005c0038t0001 a0006c0041t0001 a0010c0052t0001 a0012c0045t0001 a0016c0032t0002	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(112): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0060 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0002g0038 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0132 a0001c0001t0002g0160 a0001c0001t0002g0191 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0002g0241 a0001c0001t0003g0074 a0001c0001t0006g0076 a0001c0001t0008g0103 a0001c0001t0008g0152 a0001c0001t0008g0170 a0001c0001t0008g0175 a0001c0001t0008g0225 a0001c0001t0008g0245 a0001c0001t0008g0269 a0001c0001t0018g0130 a0001c0001t0018g0174 a0001c0001t0023g0276 a0001c0001t0024g0022 a0001c0001t0024g0023 a0001c0001t0025g0184 a0001c0002t0015g0221 a0001c0002t0017g0005 a0001c0004t0010g0030 a0001c0005t0001g0155 a0001c0005t0001g0218 a0001c0006t0001g0018 a0001c0006t0007g0014 a0001c0006t0007g0033 a0001c0006t0007g0142 a0001c0006t0007g0247 a0001c0006t0011g0217 a0001c0006t0020g0216 a0001c0007t0001g0077 a0001c0007t0001g0102 a0001c0007t0001g0120 a0001c0007t0001g0266 a0001c0007t0006g0004 a0001c0007t0006g0082 a0001c0007t0006g0114 a0001c0010t0007g0039 a0001c0010t0007g0041 a0001c0010t0011g0064 a0001c0010t0020g0159 a0001c0013t0038g0083 a0001c0013t0040g0087 a0001c0014t0001g0019 a0001c0014t0001g0138 a0001c0014t0001g0144 a0001c0014t0012g0050 a0001c0018t0001g0224 a0001c0018t0001g0231 a0001c0020t0001g0147 a0001c0020t0001g0178 a0001c0021t0011g0139 a0001c0021t0012g0137 a0001c0025t0014g0055 a0001c0025t0014g0058 a0001c0026t0001g0162 a0001c0030t0007g0001 a0001c0046t0012g0141 a0001c0053t0001g0143 a0001c0059t0001g0212 a0001c0067t0012g0015 a0001c0069t0001g0197 a0001c0070t0036g0049 a0001c0073t0030g0206 a0002c0043t0025g0183 a0002c0065t0001g0275 a0003c0058t0001g0235 a0003c0071t0013g0151 a0005c0038t0001g0029 a0006c0041t0001g0265 a0010c0052t0001g0123 a0012c0045t0001g0253 a0016c0032t0002g0258	115	276	0.4167	13	c.185 others(32): Show c.1850-1157_1850-1145dupGCCTTACCACAAT		PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	13/37						chr19	TogoVar
PTPRS_chr19_5200508_5345812	5233946	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02055.hp1 HG02622.hp2	a0001 a0001	a0001c0014 a0001c0021 a0001c0014 a0001c0021	a0001c0014t0001 a0001c0021t0011 a0001c0014t0001 a0001c0021t0011	a0001c0014t0001g0019 a0001c0021t0011g0139 a0001c0014t0001g0019 a0001c0021t0011g0139	2	276	0.0073	13	c.185 others(32): Show c.1850-2344_1850-2332dupTTTTTTTTTTTTT		PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	13/37						chr19	TogoVar
PTPRS_chr19_5200508_5345812	5331127	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0046 a0001c0012t0001g0046	1	276	0.0036	13	c.-95 others(30): Show c.-95+9536_-95+9537insTTTTTTTTTTTTT		PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37						chr19	TogoVar
PTPRT_chr20_42067756_43194906	42086753	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0044 a0001c0002t0023g0044	1	62	0.0161	13	c.384 others(30): Show c.3847-901_3847-900insATATATATATATA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30						chr20	TogoVar
PTPRT_chr20_42067756_43194906	42569077	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0052 a0001c0002t0014g0052	1	62	0.0161	13	c.115 others(34): Show c.1154-96516_1154-96515insATATATATATATA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30						chr20	TogoVar
PTPRT_chr20_42067756_43194906	43016552	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0007 a0001c0026t0007	a0001c0026t0007g0059 a0001c0026t0007g0059	1	62	0.0161	13	c.89- others(32): Show c.89-130633_89-130621dupAAAAAAAAAAAAA		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30						chr20	TogoVar
PTPRT_chr20_42067756_43194906	43051625	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp2 HG02622.hp2 HG03471.hp2	a0001 a0007 a0001 a0007	a0001c0022 a0007c0012 a0001c0022 a0007c0012	a0001c0022t0021 a0007c0012t0005 a0001c0022t0021 a0007c0012t0005	a0001c0022t0021g0045 a0007c0012t0005g0017 a0001c0022t0021g0045 a0007c0012t0005g0017	2	62	0.0323	13	c.88+ others(32): Show c.88+138008_88+138020dupTTTTTTTTTTTTT		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30						chr20	TogoVar
PTPRT_chr20_42067756_43194906	43068028	A A	AGGAGGAA others(6): Show AGGAGGAAGGGAGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0027 a0002c0004t0010g0027	1	62	0.0161	13	c.88+ others(32): Show c.88+121605_88+121617dupCCTCCCTTCCTCC		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30						chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	121891451	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03139.hp1 HG01496.hp2 HG03139.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0033 a0001c0001 a0015c0033	a0001c0001t0002 a0015c0033t0001 a0001c0001t0002 a0015c0033t0001	a0001c0001t0002g0052 a0015c0033t0001g0126 a0001c0001t0002g0052 a0015c0033t0001g0126	2	312	0.0064	13	c.58+ others(30): Show c.58+17912_58+17924dupTTTTTTTTTTTTT		PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPRZ1_chr7_121868161_122067036	122000702	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0058 a0004c0005t0002g0058	1	312	0.0032	13	c.124 others(32): Show c.1240+2696_1240+2697insATATATATATATA		PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	10/29						chr7	TogoVar
PTTG1IP2_chr7_90464639_90518397	90466483	T T	TCCATTCA others(6): Show TCCATTCACCAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	384	0.0026	13	c.-33 others(24): Show c.-3304_-3303insCCATTCACCAAGG		PTTG1IP2	ENSG00000251154.2	transcript	ENST00000509356.2	protein_coding					3155		chr7	TogoVar
PUM1_chr1_30926506_31070717	30933485	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA18946.hp1 NA19002.hp1 HG01169.hp2 NA18946.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0181 a0001c0001t0002g0202 a0001c0001t0002g0072 a0001c0001t0002g0181 a0001c0001t0002g0202	3	334	0.0090	13	c.343 others(30): Show c.3436-144_3436-143insTGTGTGTGTGTGT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	21/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31009782	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp1 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0013 a0001c0006t0003 a0001c0006t0013	a0001c0006t0003g0007 a0001c0006t0013g0009 a0001c0006t0003g0007 a0001c0006t0013g0009	2	334	0.0060	13	c.433 others(30): Show c.433-2681_433-2680insGTTTTTTTTTTTT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	3/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31009782	A A	AAAAAAAC others(6): Show AAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00738.hp1 others(22): Show HG00140.hp1 HG00438.hp2 HG00738.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01884.hp1 HG02056.hp2 HG02109.hp1 HG02145.hp2 HG02622.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp2 HG03486.hp1 HG03704.hp1 NA18951.hp1 NA18968.hp1 NA18979.hp2 NA19003.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0004t0002	a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 others(22): Show a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0202 a0001c0001t0003g0189 a0001c0001t0005g0111 a0001c0001t0005g0124 a0001c0001t0005g0175 a0001c0001t0005g0178 a0001c0001t0005g0180 a0001c0001t0005g0184 a0001c0001t0005g0263 a0001c0004t0002g0073 a0001c0004t0002g0141 a0001c0004t0002g0177	25	334	0.0749	13	c.433 others(30): Show c.433-2681_433-2680insGTTTTTGTTTTTT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	3/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31009782	A A	ACAAAAAC others(6): Show ACAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp2 HG03225.hp1 others(1): Show HG01069.hp1 HG02055.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0010 a0001c0005t0010 a0001c0002t0010 a0001c0005t0010	a0001c0002t0010g0032 a0001c0005t0010g0033 a0001c0005t0010g0034 others(1): Show a0001c0002t0010g0032 a0001c0005t0010g0033 a0001c0005t0010g0034 a0001c0005t0010g0174	4	334	0.0120	13	c.433 others(30): Show c.433-2681_433-2680insGTTTTTGTTTTTG		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	3/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	334	0.0030	13	c.364 others(32): Show c.364-10121_364-10120insATATATATATATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0177 a0001c0004t0002g0177	1	334	0.0030	13	c.364 others(32): Show c.364-10121_364-10120insAAAAAAATATATA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31038985	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	334	0.0030	13	c.364 others(32): Show c.364-10122_364-10121insTATATATATATAT		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM1_chr1_30926506_31070717	31056609	C C	CTTTTCTT others(6): Show CTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	334	0.0030	13	c.363 others(30): Show c.363+2594_363+2595insAAAAAAAAGAAAA		PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21						chr1	TogoVar
PUM2_chr2_20243737_20355844	20261394	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01981.hp1 HG02559.hp2 others(2): Show HG00642.hp2 HG01981.hp1 HG02559.hp2 NA18940.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0016 a0001c0001t0001g0331 a0001c0001t0002g0291 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0331 a0001c0001t0002g0291 a0001c0001t0006g0358 a0001c0001t0007g0173	5	358	0.0140	13	c.222 others(30): Show c.2226-941_2226-929dupTTTTTTTTTTTTT		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	14/20						chr2	TogoVar
PUM2_chr2_20243737_20355844	20261421	A A	AAAAAAAA others(6): Show AAAAAAAAAAGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0031 a0001c0001t0014g0031	1	358	0.0028	13	c.222 others(30): Show c.2226-956_2226-955insACACTTTTTTTTT		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	14/20						chr2	TogoVar
PUM2_chr2_20243737_20355844	20264359	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	358	0.0028	13	c.195 others(30): Show c.1958-900_1958-899insATATATATATATA		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20						chr2	TogoVar
PUM2_chr2_20243737_20355844	20264365	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	358	0.0028	13	c.195 others(30): Show c.1958-906_1958-905insATATATATATATA		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20						chr2	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 NA19086.hp2 HG01261.hp2 HG01884.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0010 a0001c0004t0009 a0001c0001t0005 a0001c0001t0010 a0001c0004t0009	a0001c0001t0005g0093 a0001c0001t0010g0353 a0001c0004t0009g0337 a0001c0001t0005g0093 a0001c0001t0010g0353 a0001c0004t0009g0337	3	358	0.0084	13	c.195 others(30): Show c.1958-908_1958-907insATATATATATATT		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20						chr2	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18940.hp2 HG00099.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0249 a0001c0001t0001g0194 a0001c0001t0001g0249	2	358	0.0056	13	c.195 others(30): Show c.1958-908_1958-907insATATATATATATA		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20						chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG01361.hp1 others(25): Show HG00140.hp1 HG00609.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG02040.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG03239.hp1 HG03471.hp2 HG03688.hp2 HG03710.hp1 HG03942.hp1 HG04204.hp1 NA18612.hp1 NA18906.hp1 NA18961.hp1 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18983.hp2 NA18999.hp1 NA19067.hp1 NA19085.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0085 others(25): Show a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0085 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0072 a0001c0001t0002g0087 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0302 a0001c0001t0002g0311 a0001c0001t0004g0052 a0001c0001t0006g0341 a0001c0001t0006g0342 a0001c0001t0006g0343 a0001c0001t0014g0030	28	358	0.0782	13	c.195 others(32): Show c.1957+3613_1957+3625dupTTTTTTTTTTTTT		PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20						chr2	TogoVar
PUM3_chr9_2799152_2849095	2821443	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG01109.hp2 others(15): Show HG00438.hp1 HG00544.hp2 HG01109.hp2 HG01346.hp2 HG01981.hp1 HG01981.hp2 HG03927.hp2 HG04204.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18975.hp2 NA18995.hp1 NA19003.hp1 NA19010.hp2 NA19011.hp1 NA19067.hp2 NA19087.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0006 a0001c0001 a0001c0005 a0004c0006	a0001c0001t0001 a0001c0005t0001 a0004c0006t0001 a0001c0001t0001 a0001c0005t0001 a0004c0006t0001	a0001c0001t0001g0037 a0001c0001t0001g0152 a0001c0001t0001g0202 others(12): Show a0001c0001t0001g0037 a0001c0001t0001g0152 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0005t0001g0253 a0004c0006t0001g0015 a0004c0006t0001g0153 a0004c0006t0001g0156	18	420	0.0429	13	c.118 others(32): Show c.1189-1358_1189-1346dupTTTTTTTTTTTTT		PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	12/17						chr9	TogoVar
PUS1_chr12_131924276_131950896	131927112	G G	GGAGAGGG others(6): Show GGAGAGGGGAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	382	0.0026	13	c.-26 others(24): Show c.-2611_-2610insGAGAGGGGAGAGC		PUS1	ENSG00000177192.14	transcript	ENST00000376649.8	protein_coding					2163		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAATAT others(6): Show AAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG03225.hp2 HG02723.hp1 HG02896.hp2 HG03225.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0014 a0006c0008t0029 a0002c0002t0014 a0006c0008t0029	a0002c0002t0014g0016 a0006c0008t0029g0119 a0006c0008t0029g0120 a0002c0002t0014g0016 a0006c0008t0029g0119 a0006c0008t0029g0120	3	306	0.0098	13	c.11 others(26): Show c.11568_*11569insATATATATATTTT		PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding					184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105456068	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	350	0.0029	13	c.17 others(24): Show c.1721_*1722insATATATATATATA		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding					434		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456074	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	350	0.0029	13	c.17 others(24): Show c.1715_*1716insATATATATATATA		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding					428		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAATATAT others(6): Show AAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02258.hp2 HG02040.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0280 a0001c0001t0003g0066 a0001c0001t0001g0280 a0001c0001t0003g0066	2	350	0.0057	13	c.17 others(24): Show c.1713_*1714insATATATATATATT		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding					426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105508871	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01256.hp1 HG01952.hp1 others(1): Show HG00099.hp2 HG01256.hp1 HG01952.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0319 a0001c0001t0002g0320 others(1): Show a0001c0001t0002g0306 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0327	4	350	0.0114	13	c.-32 others(28): Show c.-32-340_-32-328dupTTTTTTTTTTTTT		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15						chr7	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp1 HG01433.hp2 others(16): Show HG00438.hp1 HG01243.hp1 HG01433.hp2 HG02071.hp1 HG02132.hp2 HG02257.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03225.hp2 HG03486.hp1 HG03831.hp2 HG04199.hp1 NA18982.hp1 NA19055.hp2 NA19070.hp2 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0009 a0001c0001 a0001c0004 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0004t0001 a0006c0009t0001	a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0058 others(16): Show a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0279 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0003g0205 a0001c0001t0006g0344 a0001c0001t0008g0293 a0001c0001t0009g0068 a0001c0001t0009g0069 a0001c0004t0001g0294 a0006c0009t0001g0284	19	350	0.0543	13	c.-32 others(28): Show c.-32-653_-32-641dupTTTTTTTTTTTTT		PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15						chr7	TogoVar
PVALB_chr22_36795703_36822035	36821788	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02486.hp2 HG01515.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0236 a0001c0001t0001g0239	2	421	0.0048	13	c.-47 others(24): Show c.-4784_-4783insAAAAAAAAAAAAA		PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding					4754		chr22	TogoVar
PVR_chr19_44638910_44671162	44643308	C C	CGCTTGCT others(6): Show CGCTTGCTCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	412	0.0024	13	c.-78 others(22): Show c.-789_-788insGCTTGCTCCCCCA		PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding					601		chr19	TogoVar
PVR_chr19_44638910_44671162	44645100	T T	TATTATAA others(6): Show TATTATAATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	412	0.0024	13	c.79+ others(26): Show c.79+927_79+928insTATAATATATAAT		PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44645443	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0038 a0001c0001t0024g0038	2	412	0.0049	13	c.79+ others(28): Show c.79+1270_79+1271insTATATATATATTA		PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44668129	T T	TTTATATA others(6): Show TTTATATAATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0112 a0003c0003t0112	a0003c0003t0112g0034 a0003c0003t0112g0034	1	412	0.0024	13	c.63 others(24): Show c.6318_*6319insTTATATAATATAA		PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding					1968		chr19	TogoVar
PWWP2A_chr5_160086339_160124450	160109774	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	384	0.0026	13	c.584 others(30): Show c.584+9030_584+9031insATATATATATATA		PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1						chr5	TogoVar
PXDNL_chr8_51314577_51814445	51350354	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0056 a0012c0013t0001g0056	1	122	0.0082	13	c.390 others(32): Show c.3902-4420_3902-4408dupAAAAAAAAAAAAA		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	19/22						chr8	TogoVar
PXDNL_chr8_51314577_51814445	51455115	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02559.hp1 HG02717.hp2 others(1): Show HG01070.hp2 HG02559.hp1 HG02717.hp2 HG03486.hp1	a0003 a0015 a0023 others(1): Show a0003 a0015 a0023 a0024	a0003c0005 a0015c0045 a0023c0050 others(1): Show a0003c0005 a0015c0045 a0023c0050 a0024c0044	a0003c0005t0003 a0015c0045t0001 a0023c0050t0003 others(1): Show a0003c0005t0003 a0015c0045t0001 a0023c0050t0003 a0024c0044t0003	a0003c0005t0003g0003 a0015c0045t0001g0061 a0023c0050t0003g0014 others(1): Show a0003c0005t0003g0003 a0015c0045t0001g0061 a0023c0050t0003g0014 a0024c0044t0003g0005	4	122	0.0328	13	c.983 others(30): Show c.983-1343_983-1331dupTTTTTTTTTTTTT		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	9/22						chr8	TogoVar
PXDNL_chr8_51314577_51814445	51668176	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG00741.hp1 others(22): Show HG00438.hp1 HG00673.hp1 HG00741.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01496.hp2 HG01517.hp1 HG01975.hp2 HG02155.hp1 HG02155.hp2 HG02486.hp1 HG02486.hp2 HG03017.hp2 HG03492.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18948.hp1 NA18956.hp1 NA18959.hp1 NA18984.hp1 NA19056.hp1 NA19088.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0008 a0010 a0014 a0019 a0020 a0022 a0029 a0032 a0033	a0001c0001 a0001c0033 a0002c0002 others(10): Show a0001c0001 a0001c0033 a0002c0002 a0003c0003 a0008c0031 a0010c0046 a0014c0009 a0019c0039 a0020c0040 a0022c0019 a0029c0022 a0032c0032 a0033c0035	a0001c0001t0001 a0001c0001t0002 a0001c0033t0002 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0033t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0008c0031t0002 a0010c0046t0001 a0014c0009t0001 a0019c0039t0002 a0020c0040t0002 a0022c0019t0001 a0029c0022t0002 a0032c0032t0002 a0033c0035t0002	a0001c0001t0001g0089 a0001c0001t0002g0093 a0001c0001t0002g0095 others(22): Show a0001c0001t0001g0089 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0033t0002g0106 a0002c0002t0001g0067 a0003c0003t0001g0051 a0003c0003t0002g0107 a0008c0031t0002g0105 a0010c0046t0001g0052 a0014c0009t0001g0086 a0019c0039t0002g0119 a0020c0040t0002g0120 a0022c0019t0001g0084 a0029c0022t0002g0094 a0032c0032t0002g0121 a0033c0035t0002g0122	25	122	0.2049	13	c.165 others(32): Show c.165-13429_165-13417dupAAAAAAAAAAAAA		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22						chr8	TogoVar
PXDNL_chr8_51314577_51814445	51745000	G G	GGGAAGAA others(6): Show GGGAAGAAAAGGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00673.hp1 others(12): Show HG00438.hp1 HG00438.hp2 HG00673.hp1 HG01109.hp1 HG01169.hp2 HG01243.hp1 HG02145.hp1 HG02155.hp2 HG03492.hp1 NA18747.hp1 NA18959.hp2 NA18966.hp2 NA18984.hp1 NA18984.hp2 NA19003.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0032	a0001c0001 a0001c0033 a0001c0047 others(5): Show a0001c0001 a0001c0033 a0001c0047 a0002c0002 a0003c0003 a0005c0017 a0008c0031 a0032c0032	a0001c0001t0001 a0001c0001t0002 a0001c0033t0002 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0033t0002 a0001c0047t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0005c0017t0001 a0008c0031t0002 a0032c0032t0002	a0001c0001t0001g0022 a0001c0001t0002g0097 a0001c0001t0002g0113 others(12): Show a0001c0001t0001g0022 a0001c0001t0002g0097 a0001c0001t0002g0113 a0001c0033t0002g0106 a0001c0047t0001g0020 a0002c0002t0001g0023 a0002c0002t0002g0104 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0117 a0003c0003t0001g0051 a0003c0003t0002g0107 a0005c0017t0001g0024 a0008c0031t0002g0105 a0032c0032t0002g0121	15	122	0.1230	13	c.164 others(32): Show c.164+64168_164+64180dupTTCCTTTTCTTCC		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22						chr8	TogoVar
PXDN_chr2_1626887_1749515	1649187	T T	TGGGGGGG others(6): Show TGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA18991.hp2 NA18991.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0001 a0015c0039t0001	a0015c0039t0001g0237 a0015c0039t0001g0237	1	322	0.0031	13	c.259 others(22): Show c.2592_2593insCCCCCCCCCCCCC	p.Asn others(5): Show p.Asn865fs	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	17/23	2652/6817	2592/4440	864/1479			chr2	TogoVar

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