Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OR6J1_chr14_22625929_22649352	22637460	C C	CGCCTCTG others(170): Show CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGTCGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	362	0.0028	177	c.-27 others(194): Show c.-27-2623_-27-2622insACCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCGACCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637460	C C	CGCCTCTG others(170): Show CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGC CAGCCACCCCGTCCGGGAGGTGAGGGGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0058 a0002c0002t0058	a0002c0002t0058g0315 a0002c0002t0058g0315	1	362	0.0028	177	c.-27 others(194): Show c.-27-2623_-27-2622insACCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637460	C C	CGCCTCTG others(170): Show CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00544.hp2 others(62): Show HG00280.hp1 HG00423.hp2 HG00544.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG01943.hp2 HG02004.hp2 HG02074.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp1 HG02683.hp1 HG02809.hp2 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03834.hp1 HG04115.hp2 NA18612.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18980.hp2 NA18994.hp1 NA19012.hp1 NA19054.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp2 NA19088.hp2 NA20300.hp2 NA20905.hp2	a0002 a0008 a0010 a0002 a0008 a0010	a0002c0002 a0008c0008 a0010c0009 a0002c0002 a0008c0008 a0010c0009	a0002c0002t0002 a0002c0002t0021 a0002c0002t0032 others(4): Show a0002c0002t0002 a0002c0002t0021 a0002c0002t0032 a0002c0002t0036 a0002c0002t0052 a0008c0008t0002 a0010c0009t0002	a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0013 others(60): Show a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0031 a0002c0002t0002g0036 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0048 a0002c0002t0002g0055 a0002c0002t0002g0067 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0114 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0157 a0002c0002t0002g0162 a0002c0002t0002g0165 a0002c0002t0002g0168 a0002c0002t0002g0170 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0180 a0002c0002t0002g0186 a0002c0002t0002g0193 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0002t0002g0205 a0002c0002t0002g0212 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0241 a0002c0002t0002g0251 a0002c0002t0002g0255 a0002c0002t0021g0247 a0002c0002t0021g0261 a0002c0002t0032g0240 a0002c0002t0036g0246 a0002c0002t0052g0258 a0008c0008t0002g0085 a0010c0009t0002g0003	65	362	0.1796	177	c.-27 others(194): Show c.-27-2623_-27-2622insACCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637460	C C	CGCCTCTG others(170): Show CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	362	0.0028	177	c.-27 others(194): Show c.-27-2623_-27-2622insACCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(170): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGGA GGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAGG AGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGAGAGAG AGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00597.hp2 others(35): Show HG00099.hp1 HG00408.hp2 HG00597.hp2 HG00639.hp1 HG01123.hp1 HG01256.hp2 HG01891.hp2 HG01981.hp1 HG01993.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp2 HG02897.hp1 HG02965.hp1 HG03017.hp1 HG03225.hp1 HG03704.hp1 HG03831.hp1 HG04204.hp1 HG04228.hp2 NA18906.hp2 NA18940.hp1 NA18950.hp2 NA18959.hp2 NA18983.hp1 NA18984.hp2 NA19043.hp1 NA19063.hp2 NA19070.hp2 NA19074.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(16): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0024 a0001c0025 a0001c0028 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0012 a0002c0014 a0002c0030 a0002c0038 a0003c0008 a0003c0011 a0003c0019 a0003c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0002t0008 a0001c0006t0002 a0001c0010t0003 a0001c0024t0001 a0001c0025t0002 a0001c0028t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0002 a0002c0005t0007 a0002c0007t0004 a0002c0012t0003 a0002c0014t0003 a0002c0030t0004 a0002c0038t0003 a0003c0008t0002 a0003c0011t0005 a0003c0019t0001 a0003c0021t0002	a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0001g0062 others(35): Show a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0055 a0001c0001t0010g0183 a0001c0002t0001g0035 a0001c0002t0001g0117 a0001c0002t0001g0128 a0001c0002t0001g0132 a0001c0002t0008g0139 a0001c0006t0002g0081 a0001c0010t0003g0174 a0001c0024t0001g0016 a0001c0025t0002g0089 a0001c0028t0001g0085 a0002c0003t0001g0057 a0002c0003t0001g0078 a0002c0003t0001g0130 a0002c0003t0001g0148 a0002c0004t0001g0080 a0002c0004t0001g0120 a0002c0005t0002g0029 a0002c0005t0007g0164 a0002c0007t0004g0042 a0002c0012t0003g0177 a0002c0014t0003g0166 a0002c0030t0004g0041 a0002c0038t0003g0179 a0003c0008t0002g0008 a0003c0011t0005g0162 a0003c0019t0001g0007 a0003c0021t0002g0013	38	186	0.2043	177	c.537 others(196): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCT CTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCCC CCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTTGTCTC T	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(170): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGGA GGGGGGGGGAGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAGG AGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGAGAGAG AGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	186	0.0054	177	c.537 others(196): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCT CTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCTCCCCCCC CCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTTGTCTC T	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(170): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGGA GTGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAGG AGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGAGAGAG AGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0105 a0002c0003t0001g0105	1	186	0.0054	177	c.537 others(196): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCT CTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCCC ACTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTTGTCTC T	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(170): Show GAGAGACAAGGAGGTGGGGGAGAGTGGGGGAGAGACGAGGAGGTGGGGGA GGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAGG AGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGAGAGAG AGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0043 a0002c0003t0001g0043	1	186	0.0054	177	c.537 others(196): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCT CTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCCC CCTCCCCCACCTCCTCGTCTCTCCCCCACTCTCCCCCACCTCCTTGTCTC T	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGATA others(170): Show GAGAGATAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGGA GGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAGG AGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGAGAGAG AGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01981.hp2 HG00642.hp1 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0001 a0001c0002t0001 a0001c0010t0001	a0001c0002t0001g0121 a0001c0010t0001g0102 a0001c0002t0001g0121 a0001c0010t0001g0102	2	186	0.0108	177	c.537 others(196): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCT CTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCCC CCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTTATCTC T	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(170): Show GGAGAGACGAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAGG AGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGAGAGAG AGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0015 a0001c0023t0001g0015	1	186	0.0054	177	c.537 others(196): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCT CTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCCC CTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTCGTCTCT C	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(170): Show GGAGAGACGAGGAGGTGGGGGAGAGTGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAGG AGAGAGAGGGAGTAAAGGGGAGGGGGGGAGAGAGAGACGGGGGGAGAGAG AGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00558.hp1 others(25): Show HG00323.hp1 HG00423.hp2 HG00558.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01516.hp1 HG02015.hp1 HG02015.hp2 HG03017.hp2 HG03139.hp2 HG03831.hp2 NA18941.hp2 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18984.hp1 NA19011.hp1 NA19011.hp2 NA19062.hp1 NA19062.hp2 NA19086.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0010 a0001c0027 a0001c0029 a0002c0003 a0002c0004 a0002c0005 a0002c0014 a0003c0018 a0006c0034	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0006t0002 a0001c0009t0004 a0001c0010t0001 a0001c0027t0001 a0001c0029t0001 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0004t0002 a0002c0005t0002 a0002c0014t0001 a0003c0018t0002 a0006c0034t0001	a0001c0001t0001g0155 a0001c0001t0003g0163 a0001c0002t0001g0034 others(25): Show a0001c0001t0001g0155 a0001c0001t0003g0163 a0001c0002t0001g0034 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0122 a0001c0002t0001g0129 a0001c0006t0002g0046 a0001c0009t0004g0038 a0001c0010t0001g0037 a0001c0027t0001g0044 a0001c0029t0001g0054 a0002c0003t0001g0045 a0002c0003t0001g0047 a0002c0003t0001g0049 a0002c0003t0003g0168 a0002c0003t0003g0175 a0002c0004t0001g0109 a0002c0004t0002g0025 a0002c0004t0002g0077 a0002c0004t0002g0153 a0002c0005t0002g0039 a0002c0005t0002g0050 a0002c0005t0002g0138 a0002c0014t0001g0033 a0003c0018t0002g0002 a0006c0034t0001g0103	28	186	0.1505	177	c.537 others(196): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCCTTTACTCCCTCTCT CTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTCCCCCC CTCCCCCACCTCCTCGTCTCTCCCCCACTCTCCCCCACCTCCTCGTCTCT C	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11			chr3	TogoVar
PADI4_chr1_17303197_17369004	17351978	A A	ACGGGAGG others(170): Show ACGGGAGGCAGTAGGAGAGGCCGTCAGGGAGGTGATGGGAGGTGGGAGGA GAGGTGGTCAGGGAGCTGATGGGAGGCAGTAGGAGAGGCGGTCAGGGAGG TGATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGGTGATGGGAGGTGGGAG GAGAGGCAGTCAGGGAGGTGATGGGAGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19030.hp2 HG03195.hp2 NA19030.hp2	a0002 a0007 a0002 a0007	a0002c0015 a0007c0008 a0002c0015 a0007c0008	a0002c0015t0001 a0007c0008t0001 a0002c0015t0001 a0007c0008t0001	a0002c0015t0001g0329 a0007c0008t0001g0363 a0002c0015t0001g0329 a0007c0008t0001g0363	2	372	0.0054	177	c.115 others(196): Show c.1156-2555_1156-2554insCGGGAGGCAGTAGGAGAGGCCGTCAG GGAGGTGATGGGAGGTGGGAGGAGAGGTGGTCAGGGAGCTGATGGGAGGC AGTAGGAGAGGCGGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCGGCC AGGGAGGTGATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAG G	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15			chr1	TogoVar
PADI4_chr1_17303197_17369004	17352036	G G	GAGGTGGG others(170): Show GAGGTGGGAGGAGAGGCGGCCAGGGAGGTGATGGGAGGTGGGAGGAGAGG CGGCCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGGTGAT GGGAGGTGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAGGAGA GGCAGTCAGGGAGCTGATGGGAGGCAGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0001 a0019c0023t0001	a0019c0023t0001g0264 a0019c0023t0001g0264	1	372	0.0027	177	c.115 others(196): Show c.1156-2494_1156-2493insTGGGAGGAGAGGCGGCCAGGGAGGTG ATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGGTGATGGGAGGTGGGAGGA GAGGCGGCCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGG TGATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGCTGATGGGAGGCAGTAG G	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352038	G G	GGTGGGAA others(170): Show GGTGGGAAGAGAGGCAGTCAGGGAGGTGATAGGAGGTGGTAGAAAAGGCA GTCAGGGAGCTGATGGGAGGCAGTAGGAGAGGCGGTCAGGGAGGTGATGG GAGGTGGGAGGAGAGGCGGCCAGGGAGGAGACAGGAGGCAGTAGGAGAGG CCGTCAGGGAGGTGATGGGAGGTGGGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0297 a0002c0002t0001g0297	1	372	0.0027	177	c.115 others(196): Show c.1156-2494_1156-2493insTGGGAAGAGAGGCAGTCAGGGAGGTG ATAGGAGGTGGTAGAAAAGGCAGTCAGGGAGCTGATGGGAGGCAGTAGGA GAGGCGGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGG AGACAGGAGGCAGTAGGAGAGGCCGTCAGGGAGGTGATGGGAGGTGGGAA G	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(170): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGG GAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAAGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0301 a0001c0001t0010g0301	1	302	0.0033	177	c.155 others(194): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCTTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALM_chr19_703935_753329	720445	A A	AGGGGGGC others(170): Show AGGGGGGCGCATCCTGCGTGTCCTGGGGAAAGGCGAGGGGGCGCCCGGGC CTGGGGAGAGGTGAGGGGGGCGCCGGGTCTGGGGAGGGGCGAGAGGGGCG CCCGGGCCTGGGGAGAGTGAAGGGGGCGCCGGGTCTGGGGAGGGGCGAGG GGGGGCGCCGGGTCTGGGGAGGGGCAAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0031	1	404	0.0025	177	c.6-5 others(190): Show c.6-5540_6-5539insGCGCCGGGTCTGGGGAGGGGCAAGGGGGGGCG CATCCTGCGTGTCCTGGGGAAAGGCGAGGGGGCGCCCGGGCCTGGGGAGA GGTGAGGGGGGCGCCGGGTCTGGGGAGGGGCGAGAGGGGCGCCCGGGCCT GGGGAGAGTGAAGGGGGCGCCGGGTCTGGGGAGGGGCGAGGGGGG	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PARD3B_chr2_204540475_205625162	205380577	A A	ATATATAT others(170): Show ATATATATTATATATTATATAAAGAATATATATTATATATAATATATAAA GAATATATATTATATATAATATATACAGTATATATTATATATAATATATA AAGTATATATTATATATAATATATAAAGTATATATTATATATAATATATA AAGTATATATTATATATAATATATAAAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0020 a0004c0020t0020	a0004c0020t0020g0032 a0004c0020t0020g0032	1	54	0.0185	177	c.263 others(198): Show c.2631-20422_2631-20421insTATATAAAGAATATATATTATATA TAATATATAAAGAATATATATTATATATAATATATACAGTATATATTATA TATAATATATAAAGTATATATTATATATAATATATAAAGTATATATTATA TATAATATATAAAGTATATATTATATATAATATATAAAGTATATATTATA TAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARP10_chr8_143972158_143991460	143981672	A A	ATGGTGAT others(170): Show ATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTGTGA TGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGTGAG GGTCATGGTGATGGTGATGATGATGATGAGTGGGGATGATTATGGTGATG GTGGTGGTGATGGTGATTGTTGTGATGG	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19030.hp1 HG02015.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0156 a0001c0001t0001g0086 a0001c0001t0001g0156	2	380	0.0053	177	c.255 others(196): Show c.2556+1259_2556+1260insCCATCACAACAATCACCATCACCACC ACCATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATGA CCCTCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCAC CATCACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCACC A	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981712	A A	ATGGTGAT others(170): Show ATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTGTGA TGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGTGAG GGTCATGGTGATGGTGATGATGATGATGAGTGGGGATGATTATGGTGATG GTGGTGGTGATGGTGATTGTTGTGATGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02818.hp2 others(2): Show HG02055.hp2 HG02486.hp2 HG02818.hp2 HG03041.hp1 HG03540.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0024 a0002c0002 a0006c0024	a0002c0002t0002 a0006c0024t0003 a0002c0002t0002 a0006c0024t0003	a0002c0002t0002g0034 a0002c0002t0002g0286 a0002c0002t0002g0287 others(1): Show a0002c0002t0002g0034 a0002c0002t0002g0286 a0002c0002t0002g0287 a0006c0024t0003g0304	5	380	0.0132	177	c.255 others(196): Show c.2556+1219_2556+1220insCCATCACAACAATCACCATCACCACC ACCATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATGA CCCTCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCAC CATCACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCACC A	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981752	A A	ATGGTGAT others(170): Show ATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTGTGA TGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGTGAG GGTCATGGTGATGGTGATGATGATGATGAGTGGGGATGATTATGGTGATG GTGGTGGTGATGGTGATTGTTGTGATGG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	380	0.0026	177	c.255 others(196): Show c.2556+1179_2556+1180insCCATCACAACAATCACCATCACCACC ACCATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATGA CCCTCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCAC CATCACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCACC A	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP9_chr3_122522924_122569300	122539570	T T	TCTTTCTT others(170): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0045 a0002c0001t0001g0045	1	436	0.0023	177	c.176 others(194): Show c.1765+901_1765+902insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	8/10			chr3	TogoVar
PAX8_chr2_113210997_113283921	113236378	G G	GGGCCCAC others(170): Show GGGCCCACCTTGAGGCCCGGCCTAGGACTGGAGGCGCGACCCCTCGGCCC AACTTGAGGCCCGGCCTAGGACCGGAGGCGCGACCCCTCGGCCCACCTTG CGGGAGCCGCCTAGGACCGGAGGCGCGACCCCTCGGCCCACCTTGAGGCC CGGCCTAGGACCGGAGGCGCGACCCCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0236 a0001c0001t0014g0236	1	300	0.0033	177	c.898 others(192): Show c.898+222_898+223insGAGGGGTCGCGCCTCCGGTCCTAGGCCGGG CCTCAAGGTGGGCCGAGGGGTCGCGCCTCCGGTCCTAGGCGGCTCCCGCA AGGTGGGCCGAGGGGTCGCGCCTCCGGTCCTAGGCCGGGCCTCAAGTTGG GCCGAGGGGTCGCGCCTCCAGTCCTAGGCCGGGCCTCAAGGTGGGCC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	8/11			chr2	TogoVar
PDPN_chr1_13578832_13622957	13588980	A A	AGCGCTAC others(170): Show AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	446	0.0022	177	c.67+ others(192): Show c.67+4882_67+4883insGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGTGC	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(170): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCAC CCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCT CTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGCT TCACCCCTGCCCCTCTCCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0219 a0001c0037t0002g0219	1	402	0.0025	177	c.775 others(192): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCT TCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCC TCGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(170): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTTC ACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCT CTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGCT TCACCCCTGCCCCTCTCCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00735.hp1 others(19): Show HG00323.hp1 HG00639.hp2 HG00735.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01943.hp2 HG02451.hp1 HG02451.hp2 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp2 HG03486.hp1 HG03540.hp1 NA18957.hp1 NA18986.hp1 NA18995.hp1 NA19007.hp2 NA19063.hp2	a0001 a0001	a0001c0004 a0001c0009 a0001c0018 others(2): Show a0001c0004 a0001c0009 a0001c0018 a0001c0059 a0001c0060	a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 others(7): Show a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0004t0007 a0001c0004t0008 a0001c0009t0001 a0001c0009t0007 a0001c0018t0005 a0001c0059t0004 a0001c0060t0003	a0001c0004t0002g0137 a0001c0004t0002g0152 a0001c0004t0004g0015 others(19): Show a0001c0004t0002g0137 a0001c0004t0002g0152 a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0004t0004g0234 a0001c0004t0004g0237 a0001c0004t0004g0359 a0001c0004t0006g0049 a0001c0004t0006g0064 a0001c0004t0006g0293 a0001c0004t0007g0079 a0001c0004t0007g0398 a0001c0004t0007g0399 a0001c0004t0008g0098 a0001c0009t0001g0125 a0001c0009t0001g0224 a0001c0009t0001g0322 a0001c0009t0007g0081 a0001c0018t0005g0012 a0001c0018t0005g0174 a0001c0059t0004g0240 a0001c0060t0003g0395	22	402	0.0547	177	c.775 others(192): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTCTCC TCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCC TCGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHF21B_chr22_44876162_45015005	44884022	A A	ACCACCAT others(170): Show ACCACCATCACTGTGATCAGCACCATCACCACCACCATGATCACCATTAT CACCACCGCCACCACCATCACTGTGATCAGCACCATCACCACCACCATGA TCACCATTATCACCACCGCCACCACCATCACTGTGATCAGCACCATCACC ACCACCATGATCACCATTATCACCACCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02717.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0024 a0002c0003t0046 a0002c0003t0018 a0002c0003t0024 a0002c0003t0046	a0002c0003t0018g0023 a0002c0003t0024g0297 a0002c0003t0046g0299 a0002c0003t0018g0023 a0002c0003t0024g0297 a0002c0003t0046g0299	3	300	0.0100	177	c.137 others(194): Show c.1378-719_1378-718insCGGTGGTGATAATGGTGATCATGGTGGT GGTGATGGTGCTGATCACAGTGATGGTGGTGGCGGTGGTGATAATGGTGA TCATGGTGGTGGTGATGGTGCTGATCACAGTGATGGTGGTGGCGGTGGTG ATAATGGTGATCATGGTGGTGGTGATGGTGCTGATCACAGTGATGGTGG	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44884022	A A	ACCACCAT others(170): Show ACCACCATCACTGTGATCAGCACCATCACCACCACCATGATCACCATTAT CACCACCGCCACCACCATCACTGTGATCAGCACCATCACCACCACCATGA TCACCATTATCACCACTGCCACCACCATCACTGTGATCAGCACCATCACC ACCACCATGATCACCATTATCACCACCG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0219 a0001c0002t0005g0219	1	300	0.0033	177	c.137 others(194): Show c.1378-719_1378-718insCGGTGGTGATAATGGTGATCATGGTGGT GGTGATGGTGCTGATCACAGTGATGGTGGTGGCAGTGGTGATAATGGTGA TCATGGTGGTGGTGATGGTGCTGATCACAGTGATGGTGGTGGCGGTGGTG ATAATGGTGATCATGGTGGTGGTGATGGTGCTGATCACAGTGATGGTGG	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12			chr22	TogoVar
PIM1_chr6_37165152_37180428	37179406	T T	TATATATA others(170): Show TATATATAATATATATTATATATAATATATATAATATATATTATATATTA TATAATATATATAATATATATTATATATTATATATTATATATAATATATA TTATATATAATATATATTATATATATTATATATTATATATTATATATAAT ATATAATATATAATATATATTATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	177	c.53 others(188): Show c.5315_*5316insATATATAATATATATTATATATAATATATATAAT ATATATTATATATTATATAATATATATAATATATATTATATATTATATAT TATATATAATATATATTATATATAATATATATTATATATATTATATATTA TATATTATATATAATATATAATATATAATATATATTATATAAA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3979		chr6	TogoVar
PITPNM3_chr17_6446263_6561555	6561199	C C	CCTCCTCT others(170): Show CCTCCTCTCCCTTCCTCTTCCCCTTCCTCCTTCTCCTCTTCCTTCTCCCC TCCTCCTCCTCTTCCTCCTCCTTCTCCCTTCTTCTGCCTCTTCCTCCTTC TCCTCTTCCTTCTCCCCTCCTCCTCCTCTTCCTCCTCCTTCTCCCTTCTT CTGCCTCTTCCTCCTTCTCCTCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02886.hp1 others(2): Show HG02559.hp2 HG02622.hp2 HG02886.hp1 HG02922.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0011 a0002c0004t0004 a0002c0004t0007 a0001c0001t0011 a0002c0004t0004 a0002c0004t0007	a0001c0001t0011g0038 a0002c0004t0004g0042 a0002c0004t0007g0039 others(2): Show a0001c0001t0011g0038 a0002c0004t0004g0042 a0002c0004t0007g0039 a0002c0004t0007g0040 a0002c0004t0007g0041	5	218	0.0229	177	c.-47 others(188): Show c.-4794_-4793insAAGGAAGAGGAGAAGGAGGAAGAGGCAGAAGAAG GGAGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGAAGGAAGAGGAGAAGGA GGAAGAGGCAGAAGAAGGGAGAAGGAGGAGGAAGAGGAGGAGGAGGGGAG AAGGAAGAGGAGAAGGAGGAAGGGGAAGAGGAAGGGAGAGGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4645		chr17	TogoVar
PJA2_chr5_109329722_109414974	109340641	C C	CCTCTCCC others(170): Show CCTCTCCCTCTCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0085 a0003c0003t0002g0085	1	346	0.0029	177	c.200 others(196): Show c.2002-3286_2002-3285insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGAGAGGGAGA G	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKP3_chr11_389209_409908	401145	A A	ACCCCCGG others(170): Show ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCCCTCA CACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACAC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCACCC GCCCCGCTCACCCCCCGGCCCCGCTCAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0080 a0001c0004t0001g0080	1	216	0.0046	177	c.173 others(194): Show c.1737+441_1737+442insCCCCGGCCCCGCTCACACCCGCCCCGCT CACACCCGGCCCCGCCCTCACACCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCCGCTCACCACCCGCCCCGCTCACCCCCCGGCCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLAC1_chrX_134560838_134663471	134569996	A A	ATTTTTTT others(170): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACACCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp2 HG02647.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0189 a0001c0001t0001g0192	2	252	0.0079	177	c.-58 others(194): Show c.-58-3257_-58-3256insATTAGCCGGGTGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	2/2			chrX	TogoVar
PLCL1_chr2_197799593_198154863	197922979	C C	CGGGCGGC others(170): Show CGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCAGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0188 a0001c0001t0012g0188	1	204	0.0049	177	c.240 others(198): Show c.240+117734_240+117735insAGAGGGCTGACCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GGC	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHG4B_chr5_87168_194966	175614	A A	ACCCCTCC others(170): Show ACCCCTCCAGGCAGACACGACCAGGGCTCCTGCACGGCTGCACCCCGCCT GAGCCCTGACCCCCTCCAGGCAGACACGACCAGGGCTCCTGCACGGCTGC ACCCCGCCTGAGCCCTGACCCCCTCCAGGCAGACACGACCAGGGCTCCTG CACGGCTGCACCCCGCCTGAGCCCTGAC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0073 a0001c0002t0025g0073	1	210	0.0048	177	c.440 others(196): Show c.4402+1638_4402+1814dupCTCCAGGCAGACACGACCAGGGCTCC TGCACGGCTGCACCCCGCCTGAGCCCTGACCCCCTCCAGGCAGACACGAC CAGGGCTCCTGCACGGCTGCACCCCGCCTGAGCCCTGACCCCCTCCAGGC AGACACGACCAGGGCTCCTGCACGGCTGCACCCCGCCTGAGCCCTGACCC C	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP1R12C_chr19_55085918_55122637	55096950	C C	CCACCGTC others(170): Show CCACCGTCTTCACCCCTTCCCCGCAGTTCACCACCGTCTTCACCCCTTCC CTGCAGTTCACCACTGTCTTCACCCCTTCCCTGCAGTTCACCACCGTCTT CGCCCCTTCCCCGCAGTTCACCACCGTCTTCACCCCTTCCCCGCAGTTCA CCACCGTCTTCACCCCTTCCCTGCAGTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0188	1	390	0.0026	177	c.952 others(192): Show c.952-616_952-615insAACTGCAGGGAAGGGGTGAAGACGGTGGTG AACTGCGGGGAAGGGGTGAAGACGGTGGTGAACTGCGGGGAAGGGGCGAA GACGGTGGTGAACTGCAGGGAAGGGGTGAAGACAGTGGTGAACTGCAGGG AAGGGGTGAAGACGGTGGTGAACTGCGGGGAAGGGGTGAAGACGGTG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PRIMPOL_chr4_184644738_184699952	184676541	T T	TCCCCTCC others(170): Show TCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCTC CCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCT TCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCCTTCCCTTTC CTTATCCCTTCCCTTCTCCCTTCCCCCA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	328	0.0031	177	c.845 others(194): Show c.845-1691_845-1690insCCCCTCCCCTTCCTCTCTCCTTCCCCCT TCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTC TCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCC TTCCCTTCCCCCTTCCCTTTCCTTATCCCTTCCCTTCTCCCTTCCCCCA	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13			chr4	TogoVar
PRKCA_chr17_66297613_66815743	66799580	G G	GTGGTGGT others(170): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0136 a0001c0001t0096g0136	1	178	0.0056	177	c.185 others(196): Show c.1855-4291_1855-4290insGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT G	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2106743	C C	CTTCAGCA others(170): Show CTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGC CAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTG TCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTC CACACGTGTCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	286	0.0035	177	c.335 others(196): Show c.335-28518_335-28517insTCAGCAGGCCCCTCCGGTGGGCGAGG ACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGG TGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGC CCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCT T	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123888	C C	CTGTAGTT others(170): Show CTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCGT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	286	0.0035	177	c.335 others(196): Show c.335-11374_335-11373insTGTAGTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATA GTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCG T	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124184	G G	GTCATGGT others(170): Show GTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAG GATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGGTCACAGCGATAGTTAGCA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	286	0.0035	177	c.335 others(196): Show c.335-11075_335-11074insTGGTGGTAGTTAGGGTCGTGGTGGTT AGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATC A	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113154143	T T	TGGGGGAG others(170): Show TGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCG GGGGAGGCGGGGCGCGGGGGAGGAGGGGGTGGGGGCGTGGGCGGGGCGTC GGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGG GAGGCGGGGCGCGGGGGAGGCGGGGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	378	0.0027	177	c.-45 others(188): Show c.-4518_-4517insGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGG GGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGGTGGGGG CGTGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGG GAGGCGGGGCGCGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4504		chr13	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(170): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	227	0.0044	177	c.23 others(188): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(170): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	227	0.0044	177	c.23 others(188): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRPF6_chr20_63976132_64038100	64011805	T T	TGGCTTCT others(170): Show TGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAG GAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGA GGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01255.hp1 HG02056.hp1 others(20): Show HG00609.hp2 HG01255.hp1 HG02056.hp1 HG02074.hp2 HG02165.hp2 HG02258.hp2 HG02523.hp1 HG02559.hp1 HG02723.hp2 HG02922.hp2 HG03579.hp1 NA18943.hp1 NA18950.hp2 NA18970.hp2 NA18980.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19066.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0010t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0076 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0123 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0005t0001g0046 a0001c0010t0001g0096	23	294	0.0782	177	c.152 others(195): Show c.1524+898_1524+1074dupCTTTCTTTGCTAGTAGAAATGATACAC CTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAA ATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTG CTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTT	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64012574	G G	GCTTCTTT others(170): Show GCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGA AGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGG AGGACAGGAAGTCTCACGGCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGGCTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG04228.hp1 HG02723.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0267 a0001c0001t0002g0055 a0001c0001t0001g0267 a0001c0001t0002g0055	2	294	0.0068	177	c.152 others(196): Show c.1524+1074_1524+1075insCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGA AATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTTCTTTGCT AGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCT T	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64012805	C C	CGGCTTCT others(170): Show CGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAG GAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGA GGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	294	0.0034	177	c.152 others(196): Show c.1524+1360_1524+1361insCGGCTTCTTTCTTTGCTAGTAGAAAT GATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCT AGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCATGGCTTCT TTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTC A	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64012826	G G	GAAATGAT others(170): Show GAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCT TTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGG CTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAA GTCTCATGGCTTCTTTCTTTGCTAGTAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0067 a0001c0008t0002g0067	1	294	0.0034	177	c.152 others(196): Show c.1524+1360_1524+1361insCGGCTTCTTTCTTTGCTAGTAGAAAT GATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCT AGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCATGGCTTCT TTCTTTGCTAGTAAAAATGATACACCTACGAGAGGAGGACAGGAAGTCTC A	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRSS33_chr16_2778953_2792560	2787215	T T	TCCCCTCC others(170): Show TCCCCTCCCTTATCCTCACCCCTTCCCTCATCCTCATCCCTCTCTCATCC TCACCCCCTCCCTCATCCTCACCTCCTCCTCTATCCTCACCCCGTCCTCC ATCGTCACCCCTGCTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCCTC CCTCATCCTCACCTCTCTCTCATCCTCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	386	0.0026	177	c.-58 others(192): Show c.-58+317_-58+318insTGAGGATGAGAGAGAGGTGAGGATGAGGGA GGGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGCAGGGGTGACGATGG AGGACGGGGTGAGGATAGAGGAGGAGGTGAGGATGAGGGAGGGGGTGAGG ATGAGAGAGGGATGAGGATGAGGGAAGGGGTGAGGATAAGGGAGGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
PSME4_chr2_53859069_53975993	53940944	T T	TATATAAT others(170): Show TATATAATACATATTTAAATATATATAATACATATTTAAATATATATATA TATAATACATATTTAAATATATATAATACATATTTAAATATATATATATA ATACATATTTAAATATATATAATACATATTTAAATATATATATAATACAT ATTTAAATATATATATATACATATTTAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0060 a0002c0003t0002g0060	1	384	0.0026	177	c.501 others(192): Show c.501-945_501-944insTTAAATATGTATATATATATATTTAAATAT GTATTATATATATATTTAAATATGTATTATATATATTTAAATATGTATTA TATATATATATTTAAATATGTATTATATATATTTAAATATGTATTATATA TATATATATTTAAATATGTATTATATATATTTAAATATGTATTATAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PTPN12_chr7_77532295_77645069	77533982	C C	CCCCCCCA others(170): Show CCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCGGGATGGGGGGCTGACCCCCCCACCTCCCTCCCAGACG GGGCGGCTGGCCGGGCTGGGGGCTGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA19003.hp1 NA18998.hp2 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0073 a0002c0002t0001g0036 a0002c0002t0001g0073	2	310	0.0065	177	c.-35 others(188): Show c.-3565_-3564insCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCGGGATGGGGGGCTGACCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCCGGGCTGGGGGCTGACG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3312		chr7	TogoVar

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