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	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
NPIPB11_chr16_29376310_29411711	29383679	TGCTCGGC others(119): Show TGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGG TGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATCCG CTGAGGGTGGAAGCGGCCCCCGCAGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18994.hp1 NA18994.hp1	a0111 a0111	a0111c0063 a0111c0063	a0111c0063t0001 a0111c0063t0001	a0111c0063t0001g0164 a0111c0063t0001g0164	1	428	0.0023	-126	c.112 others(9): Show c.1127_1252del	p.Arg others(13): Show p.Arg376_Glu417del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	3999/6369	1127/3486	376/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383753	AGAAGGTG others(119): Show AGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCA GACGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18964.hp2 NA18964.hp2	a0101 a0101	a0101c0087 a0101c0087	a0101c0087t0001 a0101c0087t0001	a0101c0087t0001g0167 a0101c0087t0001g0167	1	428	0.0023	-126	c.105 others(9): Show c.1053_1178del	p.Glu others(13): Show p.Glu352_Ser393del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	3925/6369	1053/3486	351/1161			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30223419	GGCTGAGG others(119): Show GGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCAGAAGGTGTCTTGAGATTATCATCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp2 NA18951.hp1 NA18952.hp2 others(2): Show HG00323.hp2 NA18951.hp1 NA18952.hp2 NA18974.hp1 NA20805.hp2	a0006 a0046 a0006 a0046	a0006c0009 a0006c0065 a0046c0066 a0006c0009 a0006c0065 a0046c0066	a0006c0009t0005 a0006c0065t0005 a0046c0066t0005 a0006c0009t0005 a0006c0065t0005 a0046c0066t0005	a0006c0009t0005g0089 a0006c0009t0005g0106 a0006c0009t0005g0111 others(2): Show a0006c0009t0005g0089 a0006c0009t0005g0106 a0006c0009t0005g0111 a0006c0065t0005g0108 a0046c0066t0005g0086	5	145	0.0345	-126	c.290 others(9): Show c.2901_3026del	p.Asp others(14): Show p.Asp968_Ala1009del	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	5769/6292	2901/3417	967/1138			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30223943	CCCGCAGA others(119): Show CCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGA GCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATT ATCATCCGCTGAGGGTGGAAGCGGCCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03195.hp1 NA18957.hp2 HG03195.hp1 NA18957.hp2	a0043 a0047 a0043 a0047	a0043c0069 a0047c0054 a0043c0069 a0047c0054	a0043c0069t0001 a0047c0054t0004 a0043c0069t0001 a0047c0054t0004	a0043c0069t0001g0034 a0047c0054t0004g0008 a0043c0069t0001g0034 a0047c0054t0004g0008	2	145	0.0138	-126	c.237 others(9): Show c.2377_2502del	p.Arg others(13): Show p.Arg793_Arg834del	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	5245/6292	2377/3417	793/1138			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30224705	AGGCAGGT others(119): Show AGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAAGCGGCCCCCGCAGACGCTC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00639.hp2 HG02818.hp2 HG02886.hp2 others(5): Show HG00639.hp2 HG02818.hp2 HG02886.hp2 NA18942.hp1 NA18992.hp2 NA19000.hp1 NA19005.hp2 NA19011.hp2	a0001 a0010 a0011 others(2): Show a0001 a0010 a0011 a0049 a0051	a0001c0004 a0001c0019 a0010c0034 others(4): Show a0001c0004 a0001c0019 a0010c0034 a0010c0036 a0011c0014 a0049c0057 a0051c0058	a0001c0004t0001 a0001c0019t0002 a0010c0034t0006 others(5): Show a0001c0004t0001 a0001c0019t0002 a0010c0034t0006 a0010c0036t0006 a0011c0014t0003 a0011c0014t0004 a0049c0057t0003 a0051c0058t0004	a0001c0004t0001g0069 a0001c0019t0002g0116 a0010c0034t0006g0022 others(5): Show a0001c0004t0001g0069 a0001c0019t0002g0116 a0010c0034t0006g0022 a0010c0036t0006g0020 a0011c0014t0003g0100 a0011c0014t0004g0010 a0049c0057t0003g0093 a0051c0058t0004g0003	8	145	0.0552	-126	c.161 others(9): Show c.1615_1740del	p.Glu others(13): Show p.Glu539_Ala580del	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4483/6292	1615/3417	539/1138			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835108	GGCTGAGG others(119): Show GGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00642.hp2 HG00738.hp1 others(42): Show HG00280.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp2 HG02074.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02602.hp1 HG03017.hp2 HG03139.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 NA18953.hp2 NA18959.hp1 NA18979.hp2 NA18986.hp1 NA18999.hp2 NA19007.hp2 NA19043.hp2 NA19065.hp1 NA19068.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0024 others(9): Show a0001 a0003 a0024 a0034 a0040 a0048 a0060 a0067 a0073 a0083 a0085 a0089	a0001c0002 a0001c0008 a0003c0010 others(14): Show a0001c0002 a0001c0008 a0003c0010 a0003c0015 a0003c0016 a0003c0059 a0003c0060 a0024c0021 a0034c0067 a0040c0035 a0048c0051 a0060c0053 a0067c0056 a0073c0050 a0083c0052 a0085c0046 a0089c0038	a0001c0002t0001 a0001c0008t0001 a0003c0010t0001 others(14): Show a0001c0002t0001 a0001c0008t0001 a0003c0010t0001 a0003c0015t0001 a0003c0016t0001 a0003c0059t0001 a0003c0060t0001 a0024c0021t0001 a0034c0067t0001 a0040c0035t0001 a0048c0051t0001 a0060c0053t0001 a0067c0056t0001 a0073c0050t0001 a0083c0052t0001 a0085c0046t0001 a0089c0038t0001	a0001c0002t0001g0004 a0001c0002t0001g0101 a0001c0002t0001g0104 others(42): Show a0001c0002t0001g0004 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0154 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0008t0001g0117 a0001c0008t0001g0118 a0001c0008t0001g0164 a0001c0008t0001g0186 a0001c0008t0001g0194 a0003c0010t0001g0156 a0003c0010t0001g0159 a0003c0010t0001g0160 a0003c0010t0001g0162 a0003c0010t0001g0174 a0003c0015t0001g0045 a0003c0015t0001g0046 a0003c0015t0001g0183 a0003c0016t0001g0145 a0003c0016t0001g0190 a0003c0016t0001g0191 a0003c0059t0001g0192 a0003c0060t0001g0091 a0024c0021t0001g0050 a0024c0021t0001g0176 a0034c0067t0001g0171 a0040c0035t0001g0123 a0048c0051t0001g0173 a0060c0053t0001g0061 a0067c0056t0001g0180 a0073c0050t0001g0144 a0083c0052t0001g0169 a0085c0046t0001g0157 a0089c0038t0001g0172	45	204	0.2206	-126	c.315 others(9): Show c.3153_3278del	p.Asp others(15): Show p.Asp1052_Ala1093del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	3493/4020	3153/3669	1051/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835895	TCCCCGCA others(119): Show TCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTG GAGCTGAGTGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGA TTATCATCCGCTGAGGGTGGAAGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01257.hp1 HG01257.hp1	a0039 a0039	a0039c0036 a0039c0036	a0039c0036t0001 a0039c0036t0001	a0039c0036t0001g0137 a0039c0036t0001g0137	1	204	0.0049	-126	c.236 others(9): Show c.2366_2491del	p.Gly others(13): Show p.Gly789_Gly830del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2706/4020	2366/3669	789/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835953	TGTGGAAG others(119): Show TGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATC CGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01981.hp2 NA18953.hp2 HG01981.hp2 NA18953.hp2	a0043 a0073 a0043 a0073	a0043c0034 a0073c0050 a0043c0034 a0073c0050	a0043c0034t0001 a0073c0050t0001 a0043c0034t0001 a0073c0050t0001	a0043c0034t0001g0142 a0073c0050t0001g0144 a0043c0034t0001g0142 a0073c0050t0001g0144	2	204	0.0098	-126	c.230 others(9): Show c.2308_2433del	p.Pro others(13): Show p.Pro770_His811del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2648/4020	2308/3669	770/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21836520	AGGCAGGT others(119): Show AGGCAGGTGTCTTGATGTTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAAGCGGCCCCCGCAGACGCTC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01975.hp1 NA18747.hp2 HG01975.hp1 NA18747.hp2	a0042 a0069 a0042 a0069	a0042c0079 a0069c0078 a0042c0079 a0069c0078	a0042c0079t0001 a0069c0078t0001 a0042c0079t0001 a0069c0078t0001	a0042c0079t0001g0080 a0069c0078t0001g0018 a0042c0079t0001g0080 a0069c0078t0001g0018	2	204	0.0098	-126	c.174 others(9): Show c.1741_1866del	p.Glu others(13): Show p.Glu581_Ala622del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2081/4020	1741/3669	581/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21836536	GTTATCAT others(119): Show GTTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGAC GCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCC CGCAGACGCTCGGCAGGTGTCTTGATA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00544.hp2 HG00642.hp2 HG00738.hp1 others(43): Show HG00544.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02148.hp1 HG02165.hp1 HG02293.hp2 HG02602.hp1 HG02723.hp2 HG03017.hp2 HG03139.hp2 HG03225.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04204.hp1 NA18960.hp2 NA18966.hp1 NA18986.hp2 NA19043.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0007 a0012 others(12): Show a0001 a0007 a0012 a0014 a0030 a0034 a0036 a0039 a0040 a0043 a0044 a0048 a0060 a0083 a0089	a0001c0002 a0001c0008 a0007c0006 others(13): Show a0001c0002 a0001c0008 a0007c0006 a0012c0011 a0014c0014 a0030c0039 a0034c0067 a0036c0068 a0039c0036 a0040c0035 a0043c0034 a0044c0037 a0048c0051 a0060c0053 a0083c0052 a0089c0038	a0001c0002t0001 a0001c0008t0001 a0007c0006t0001 others(13): Show a0001c0002t0001 a0001c0008t0001 a0007c0006t0001 a0012c0011t0001 a0014c0014t0001 a0030c0039t0001 a0034c0067t0001 a0036c0068t0001 a0039c0036t0001 a0040c0035t0001 a0043c0034t0001 a0044c0037t0001 a0048c0051t0001 a0060c0053t0001 a0083c0052t0001 a0089c0038t0001	a0001c0002t0001g0004 a0001c0002t0001g0101 a0001c0002t0001g0104 others(42): Show a0001c0002t0001g0004 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0154 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0008t0001g0117 a0001c0008t0001g0118 a0001c0008t0001g0164 a0001c0008t0001g0186 a0001c0008t0001g0194 a0007c0006t0001g0106 a0007c0006t0001g0111 a0007c0006t0001g0114 a0007c0006t0001g0143 a0007c0006t0001g0153 a0007c0006t0001g0155 a0007c0006t0001g0199 a0012c0011t0001g0002 a0012c0011t0001g0138 a0012c0011t0001g0163 a0014c0014t0001g0071 a0014c0014t0001g0072 a0014c0014t0001g0073 a0030c0039t0001g0124 a0034c0067t0001g0171 a0036c0068t0001g0008 a0039c0036t0001g0137 a0040c0035t0001g0123 a0043c0034t0001g0142 a0044c0037t0001g0119 a0048c0051t0001g0173 a0060c0053t0001g0061 a0083c0052t0001g0169 a0089c0038t0001g0172	46	204	0.2255	-126	c.172 others(9): Show c.1725_1850del	p.Ile others(13): Show p.Ile576_Asn617del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2065/4020	1725/3669	575/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21836899	GGCAGGTG others(119): Show GGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAA GGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAG GGTGGAAGCGGCCCCCGCAGACGCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01975.hp1 HG02027.hp2 HG02572.hp1 others(5): Show HG01975.hp1 HG02027.hp2 HG02572.hp1 HG02818.hp1 HG03041.hp2 HG03471.hp2 NA18747.hp2 NA18906.hp2	a0022 a0042 a0046 others(4): Show a0022 a0042 a0046 a0053 a0057 a0059 a0069	a0022c0020 a0042c0079 a0046c0077 others(4): Show a0022c0020 a0042c0079 a0046c0077 a0053c0072 a0057c0049 a0059c0044 a0069c0078	a0022c0020t0001 a0042c0079t0001 a0046c0077t0001 others(4): Show a0022c0020t0001 a0042c0079t0001 a0046c0077t0001 a0053c0072t0001 a0057c0049t0001 a0059c0044t0001 a0069c0078t0001	a0022c0020t0001g0010 a0022c0020t0001g0013 a0042c0079t0001g0080 others(5): Show a0022c0020t0001g0010 a0022c0020t0001g0013 a0042c0079t0001g0080 a0046c0077t0001g0017 a0053c0072t0001g0003 a0057c0049t0001g0044 a0059c0044t0001g0012 a0069c0078t0001g0018	8	204	0.0392	-126	c.136 others(9): Show c.1362_1487del	p.Glu others(13): Show p.Glu455_Ala496del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	1702/4020	1362/3669	454/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21837025	AGCAGGTG others(119): Show AGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAA GGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAG GGTGGAAGCGGCCCCCGCAGACGCTCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03492.hp1 HG03710.hp2 HG03492.hp1 HG03710.hp2	a0062 a0066 a0062 a0066	a0062c0062 a0066c0061 a0062c0062 a0066c0061	a0062c0062t0001 a0066c0061t0001 a0062c0062t0001 a0066c0061t0001	a0062c0062t0001g0193 a0066c0061t0001g0185 a0062c0062t0001g0193 a0066c0061t0001g0185	2	204	0.0098	-126	c.123 others(9): Show c.1236_1361del	p.Glu others(13): Show p.Glu413_Ala454del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	1576/4020	1236/3669	412/1222			chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534219	CGAGCGTC others(119): Show CGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGA CACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCA GCAGATGATAATATCAAGACACCTGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18948.hp1 NA18948.hp1	a0025 a0025	a0025c0009 a0025c0009	a0025c0009t0001 a0025c0009t0001	a0025c0009t0001g0027 a0025c0009t0001g0027	1	47	0.0213	-126	c.136 others(9): Show c.1362_1487del	p.Glu others(13): Show p.Glu455_Ala496del	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4273/6463	1362/3402	454/1133		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRIP3_chr11_8975576_9009001	8978245	GGGGGGGT others(119): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18969.hp1 NA18995.hp2 NA18946.hp2 NA18969.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0092 a0001c0001t0002g0117 a0001c0001t0011g0116 a0001c0001t0002g0092 a0001c0001t0002g0117 a0001c0001t0011g0116	3	406	0.0074	-126	c.51 others(11): Show c.5174_*5299del		NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding					2330		chr11	TogoVar
NRIP3_chr11_8975576_9009001	8978773	TGGGGGGA others(119): Show TGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCTG GCCAGCCGCCCCGTCCGGGAGGGTTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	406	0.0025	-126	c.46 others(11): Show c.4646_*4771del		NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding					1802		chr11	TogoVar
OR1A1_chr17_3202667_3223896	3221606	ATATATTA others(119): Show ATATATTATATAATATATTATTATATATTATATAATATATTATATATTAT TATATATTATATAATATATTATATATTATTATATATTATATAATACATTA TATATTATTATATATTATATAATACAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 NA20300.hp1 HG02717.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0038 a0001c0001t0027 a0001c0001t0038	a0001c0001t0027g0069 a0001c0001t0038g0038 a0001c0001t0027g0069 a0001c0001t0038g0038	2	434	0.0046	-126	c.50 others(11): Show c.5057_*5182del		OR1A1	ENSG00000172146.4	transcript	ENST00000641732.2	protein_coding					2711		chr17	TogoVar
OR4C16_chr11_55567128_55578060	55577934	TACTCCTC others(119): Show TACTCCTCTGAGACAAAACTTCCAGAGGAAAGATCAGACAGCAGCATTCG CGATTCATGAAAATCCGCTGTTCTGCAGCCATCTCTGCTGATACCCAGGC AAACAGGGTCTGGAGTGGACCTCTAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	440	0.0023	-126	c.48 others(11): Show c.4875_*5000del		OR4C16	ENSG00000279514.2	transcript	ENST00000623907.1	protein_coding					4875		chr11	TogoVar
OSCAR_chr19_54089668_54105803	54096353	TCTCTCTC others(119): Show TCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTC TCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTCTCTCTCTGCCTGCCTCTC TCTCTGCCTGCCTCTCTCTCTGCCTCC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0289 a0002c0002t0001g0289	1	443	0.0023	-126	c.374 others(15): Show c.374-326_374-201del		OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	3/4						chr19	TogoVar
OSMR_chr5_38841012_38940641	38861981	TCACCTCC others(119): Show TCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGTGGGGGGCTGACCCCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp1 HG02258.hp1 HG03486.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0015 a0006c0010t0007 a0001c0001t0015 a0006c0010t0007	a0001c0001t0015g0171 a0006c0010t0007g0259 a0001c0001t0015g0171 a0006c0010t0007g0259	2	382	0.0052	-126	c.-13 others(17): Show c.-13-7002_-13-6877del		OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
OSMR_chr5_38841012_38940641	38862287	GGGGGGCT others(119): Show GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGATGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02080.hp1 NA18943.hp1 others(8): Show HG00673.hp2 HG02080.hp1 NA18943.hp1 NA18949.hp2 NA18967.hp2 NA18971.hp2 NA18975.hp1 NA18987.hp1 NA19054.hp2 NA19063.hp1 NA19083.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0037 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0037 a0003c0003t0005 a0005c0005t0006	a0001c0001t0002g0125 a0001c0001t0005g0150 a0001c0001t0005g0151 others(8): Show a0001c0001t0002g0125 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0194 a0001c0001t0005g0198 a0001c0001t0037g0210 a0003c0003t0005g0209 a0005c0005t0006g0195	11	382	0.0288	-126	c.-13 others(17): Show c.-13-6710_-13-6585del		OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
P2RX5_chr17_3668227_3701155	3685783	CCCGCCCA others(119): Show CCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0345 a0002c0002t0007g0345	1	362	0.0028	-126	c.981 others(17): Show c.981+2103_981+2228del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P3H1_chr1_42741374_42772028	42750757	CGCCCCTA others(119): Show CGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCTATCCA GGAGGTGAGGGGCGCCTCTGCCCGGCT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	406	0.0025	-126	c.157 others(17): Show c.1570-547_1570-422del		P3H1	ENSG00000117385.16	transcript	ENST00000296388.10	protein_coding	10/14						chr1	TogoVar
PACSIN2_chr22_42864773_43020149	42981492	TCGGCCAG others(119): Show TCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCC CTACTGGGAAGTGAGGACCCCTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0293 a0001c0003t0004g0293	1	294	0.0034	-126	c.-78 others(19): Show c.-78+33403_-78+33528del		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PARD3_chr10_34104561_34820296	34605856	CTATATAT others(119): Show CTATATATATATCTCCTATATATATATCTCCTATATATATATCTCCTATA TATATATCTCCTATATATATATCTCCTATATATATATATCTCCTATATAT ATATATCTCCTATATCTATATCTCCTA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0025 a0001c0002t0016g0025	1	100	0.0100	-126	c.223 others(19): Show c.223-88823_223-88698del		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PCSK6_chr15_101298933_101494707	101311811	CCCCTCAC others(119): Show CCCCTCACAGCCCACCCCATGGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0007 a0006c0020t0001g0007	1	336	0.0030	-126	c.269 others(19): Show c.2699+1439_2699+1564del		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311886	CCCCTCAC others(119): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02572.hp2 others(4): Show HG02258.hp1 HG02258.hp2 HG02572.hp2 HG02818.hp2 HG03225.hp2 HG03516.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0002c0008	a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 others(3): Show a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 a0001c0007t0002 a0001c0010t0002 a0002c0008t0002	a0001c0001t0002g0270 a0001c0001t0002g0296 a0001c0003t0002g0047 others(4): Show a0001c0001t0002g0270 a0001c0001t0002g0296 a0001c0003t0002g0047 a0001c0004t0002g0104 a0001c0007t0002g0093 a0001c0010t0002g0251 a0002c0008t0002g0014	7	336	0.0208	-126	c.269 others(19): Show c.2699+1364_2699+1489del		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PERM1_chr1_970198_987093	976875	CCAACCCC others(119): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0067 a0003c0003t0004g0067	1	408	0.0025	-126	c.215 others(17): Show c.2150-377_2150-252del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PERM1_chr1_970198_987093	977158	CACCAACC others(119): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCA ACCCCGGGAACCGCCTGCCCCCACCGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG02818.hp2 others(1): Show HG02280.hp2 HG02717.hp2 HG02818.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0031 a0001c0001 a0001c0031	a0001c0001t0003 a0001c0001t0014 a0001c0031t0001 a0001c0001t0003 a0001c0001t0014 a0001c0031t0001	a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0014g0116 others(1): Show a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0014g0116 a0001c0031t0001g0097	4	408	0.0098	-126	c.215 others(17): Show c.2150-660_2150-535del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PERM1_chr1_970198_987093	977602	CACCAACC others(119): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCA ACCCCGGGAACCGCCTGCCCCCACCGA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0042 a0004c0004t0002g0042	1	408	0.0025	-126	c.215 others(18): Show c.2150-1104_2150-979del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PHACTR1_chr6_12711767_13292837	13231071	GGAAGGAA others(119): Show GGAAGGAAGGAAGGAAGAAGGAAGGAAGGGAAAAGAAAGAAGGAAAGAGA GAAAGAAAGAAGGAAAGAGAAAGAAAGAAGGAAAGAGAAAGAGCGAAAGA GGAGGAGGGAGGGAGGGAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp1 HG01175.hp2 others(13): Show HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01255.hp2 HG01261.hp2 HG01361.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG03130.hp2 HG03225.hp1 HG03492.hp1 HG06807.hp1 NA18906.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0082 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0043 a0001c0001t0002g0055 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0091 a0001c0001t0005g0064	16	108	0.1482	-126	c.139 others(18): Show c.1391+895_1391+1020del		PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF11_chr13_49490953_49533976	49504513	GGGCGCCT others(119): Show GGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02559.hp1 others(6): Show HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG03098.hp1 HG03209.hp2 HG03486.hp1 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0001g0136 a0001c0001t0002g0022 others(5): Show a0001c0001t0001g0103 a0001c0001t0001g0136 a0001c0001t0002g0022 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138	9	414	0.0217	-126	c.95- others(15): Show c.95-2109_95-1984del		PHF11	ENSG00000136147.18	transcript	ENST00000378319.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr13	TogoVar
PID1_chr2_229018973_229276287	229138989	AAGAAAGA others(119): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	256	0.0039	-126	c.177 others(19): Show c.177+16703_177+16828del		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2						chr2	TogoVar
PID1_chr2_229018973_229276287	229139029	AAGAAAGA others(119): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGCAAGCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	256	0.0039	-126	c.177 others(19): Show c.177+16663_177+16788del		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2						chr2	TogoVar
PIGQ_chr16_564968_589109	571103	GTGTGTCT others(119): Show GTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCACCCGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTCTGGTTAGCC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0330 a0001c0004t0014g0330	1	408	0.0025	-126	c.-10 others(17): Show c.-10+1013_-10+1138del		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PINX1_chr8_10759961_10844875	10833548	AGACGACT others(119): Show AGACGACTGGGGTGCGGGAGGCTGGAGAAGAGACGACTGGGGTGCGGGAG GCTGGAGAAGAATGACAACTGGGGTGCGGGAGGCTGGAGAAGAATGACGA CTGGGGTGCGGGAGGCTGGAGAAGAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00738.hp2 others(19): Show HG00099.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01168.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01978.hp1 HG01993.hp2 HG02132.hp2 HG02145.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 NA18947.hp2 NA18964.hp2 NA18973.hp1 NA18983.hp1 NA19000.hp1 NA20752.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0009c0013t0001 a0001c0001t0001 a0009c0013t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0045 others(17): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0009c0013t0001g0183	22	352	0.0625	-126	c.130 others(15): Show c.130-690_130-565del		PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	2/6						chr8	TogoVar
PIWIL1_chr12_130332887_130377637	130338300	TCGAGGTC others(119): Show TCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTC CCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGC AAGGGATGCAGGAGCCGGGTGCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03471.hp1 HG03834.hp1 HG00280.hp1 HG03471.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0011 a0001c0002t0002 a0002c0003t0011	a0001c0002t0002g0084 a0002c0003t0011g0091 a0002c0003t0011g0092 a0001c0002t0002g0084 a0002c0003t0011g0091 a0002c0003t0011g0092	3	425	0.0071	-126	c.-13 others(15): Show c.-13+254_-13+379del		PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
PJA2_chr5_109329722_109414974	109352918	AATATCAT others(119): Show AATATCATAGACATCTATGTATTAGATACCTATTATATCTATAGACATCT ATATATTAGATACCTATATCTATAGATATCTATATATTAGATACCTATAT CTATAGATATCTATATATTAGATACCT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01243.hp2 HG01358.hp2 others(9): Show HG01168.hp2 HG01243.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG02280.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp2 HG03209.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0005 a0001c0006 a0004c0005	a0001c0006t0001 a0004c0005t0001 a0001c0006t0001 a0004c0005t0001	a0001c0006t0001g0035 a0001c0006t0001g0036 a0001c0006t0001g0037 others(9): Show a0001c0006t0001g0035 a0001c0006t0001g0036 a0001c0006t0001g0037 a0001c0006t0001g0038 a0001c0006t0001g0039 a0004c0005t0001g0040 a0004c0005t0001g0041 a0004c0005t0001g0042 a0004c0005t0001g0043 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0294	12	346	0.0347	-126	c.176 others(19): Show c.1764+2871_1764+2996del		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9						chr5	TogoVar
PLEKHG1_chr6_150594885_150848665	150776530	TGTGTGGT others(119): Show TGTGTGGTTGCACATTACTCACACTGATGCAATCCTGGTGCACATGTGCA GTTGCACATTACTCACACTGATGCAGTCCTGGTGCACATGTGCGGTTGCA CATTACACTGATGCAATCCTGGTGCAC	T T	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0219 a0001c0013t0001g0219	1	272	0.0037	-126	c.512 others(17): Show c.512+7830_512+7955del		PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHN1_chr1_961482_980865	976875	CCAACCCC others(119): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0025 a0002c0017t0025	a0002c0017t0025g0007 a0002c0017t0025g0007	1	422	0.0024	-126	c.23 others(11): Show c.2301_*2426del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1011		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977158	CACCAACC others(119): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCACCACCCCGCCA ACCCCGGGAACCGCCTGCCCCCACCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02717.hp2 HG02818.hp1 others(1): Show HG02280.hp1 HG02717.hp2 HG02818.hp1 HG02965.hp1	a0001 a0009 a0001 a0009	a0001c0010 a0001c0012 a0009c0020 a0001c0010 a0001c0012 a0009c0020	a0001c0010t0003 a0001c0012t0040 a0009c0020t0003 a0001c0010t0003 a0001c0012t0040 a0009c0020t0003	a0001c0010t0003g0071 a0001c0010t0003g0084 a0001c0012t0040g0102 others(1): Show a0001c0010t0003g0071 a0001c0010t0003g0084 a0001c0012t0040g0102 a0009c0020t0003g0002	4	422	0.0095	-126	c.25 others(11): Show c.2584_*2709del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1294		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977602	CACCAACC others(119): Show CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCA ACCCCGGGAACCGCCTGCCCCCACCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA18998.hp2 HG00408.hp1 NA18998.hp2	a0001 a0001	a0001c0010 a0001c0012 a0001c0010 a0001c0012	a0001c0010t0009 a0001c0012t0009 a0001c0010t0009 a0001c0012t0009	a0001c0010t0009g0153 a0001c0012t0009g0012 a0001c0010t0009g0153 a0001c0012t0009g0012	2	422	0.0047	-126	c.30 others(11): Show c.3028_*3153del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1738		chr1	TogoVar
PLSCR2_chr3_146428288_146474561	146459714	TGTTTACC others(119): Show TGTTTACCATTTCTGACTTTAATTAATTAATAAGCAGTAAATAAATAAGT ATCACTTAACCATAATTACTATGGTTCATAAACCAGAAAGAGAGTTTTTT TTTTTTTCTGAGTATTTTACGTATTTG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	364	0.0028	-126	c.57+ others(11): Show c.57+8_57+133del		PLSCR2	ENSG00000163746.13	transcript	ENST00000696113.1	protein_coding	2/7						chr3	TogoVar
PLXDC2_chr10_19811432_20294856	20126563	CACACACG others(119): Show CACACACGTTATATATGTATATATAACACACACGTTATATATGTATATAT AACACACACGTTATATATGTATATATAACACACACGTTATATATGTATAT ATAACACACGTTATATATGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0101 a0001c0001t0021g0101	1	180	0.0056	-126	c.542 others(19): Show c.542-16683_542-16558del		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNB2_chr22_50269979_50312646	50274644	TCTCCCAG others(119): Show TCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCAC CTCCCCCAGTACCCCTCCCAGCCCCTTCCACCTCCCCCAGCACCCCTCCC AGCCCCCTCCACTTCCCCCCAGCACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(44): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00733.hp1 HG00735.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01346.hp1 HG01361.hp2 HG01891.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02647.hp2 HG02735.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03579.hp2 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18983.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19005.hp2 NA19012.hp1 NA19079.hp2 NA19088.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0019 a0025 a0026 a0027	a0001c0002 a0002c0009 a0002c0011 others(11): Show a0001c0002 a0002c0009 a0002c0011 a0003c0018 a0004c0004 a0004c0070 a0005c0016 a0006c0058 a0010c0031 a0011c0023 a0019c0082 a0025c0061 a0026c0075 a0027c0053	a0001c0002t0002 a0002c0009t0002 a0002c0011t0002 others(12): Show a0001c0002t0002 a0002c0009t0002 a0002c0011t0002 a0003c0018t0002 a0004c0004t0002 a0004c0070t0002 a0005c0016t0002 a0005c0016t0012 a0006c0058t0002 a0010c0031t0002 a0011c0023t0001 a0019c0082t0002 a0025c0061t0002 a0026c0075t0002 a0027c0053t0002	a0001c0002t0002g0154 a0001c0002t0002g0166 a0002c0009t0002g0016 others(44): Show a0001c0002t0002g0154 a0001c0002t0002g0166 a0002c0009t0002g0016 a0002c0009t0002g0017 a0002c0009t0002g0022 a0002c0009t0002g0037 a0002c0009t0002g0089 a0002c0009t0002g0099 a0002c0009t0002g0240 a0002c0011t0002g0042 a0002c0011t0002g0275 a0002c0011t0002g0281 a0002c0011t0002g0283 a0002c0011t0002g0284 a0002c0011t0002g0285 a0003c0018t0002g0136 a0004c0004t0002g0038 a0004c0004t0002g0057 a0004c0004t0002g0080 a0004c0004t0002g0082 a0004c0004t0002g0090 a0004c0004t0002g0091 a0004c0004t0002g0100 a0004c0004t0002g0128 a0004c0004t0002g0153 a0004c0004t0002g0156 a0004c0004t0002g0157 a0004c0004t0002g0173 a0004c0004t0002g0175 a0004c0004t0002g0217 a0004c0004t0002g0218 a0004c0004t0002g0221 a0004c0004t0002g0222 a0004c0004t0002g0241 a0004c0070t0002g0238 a0005c0016t0002g0131 a0005c0016t0002g0223 a0005c0016t0002g0265 a0005c0016t0012g0256 a0006c0058t0002g0197 a0010c0031t0002g0081 a0010c0031t0002g0086 a0011c0023t0001g0023 a0019c0082t0002g0129 a0025c0061t0002g0192 a0026c0075t0002g0095 a0027c0053t0002g0162	47	302	0.1556	-126	c.93 others(10): Show c.934_*1059del		PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding					334		chr22	TogoVar
PRB3_chr12_11260914_11274707	11267457	TGGACGAG others(119): Show TGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTC CTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCT TGTGGGGGTGGTCCTTCTGGCTTTCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01978.hp2 HG02735.hp1 HG04204.hp2 others(5): Show HG01978.hp2 HG02735.hp1 HG04204.hp2 NA18963.hp1 NA18968.hp2 NA19011.hp1 NA19074.hp1 NA21309.hp1	a0011 a0019 a0034 a0011 a0019 a0034	a0011c0010 a0019c0022 a0034c0034 a0011c0010 a0019c0022 a0034c0034	a0011c0010t0001 a0011c0010t0003 a0019c0022t0001 others(1): Show a0011c0010t0001 a0011c0010t0003 a0019c0022t0001 a0034c0034t0002	a0011c0010t0001g0014 a0011c0010t0003g0055 a0019c0022t0001g0037 others(2): Show a0011c0010t0001g0014 a0011c0010t0003g0055 a0019c0022t0001g0037 a0019c0022t0001g0048 a0034c0034t0002g0072	8	443	0.0181	-126	c.666 others(7): Show c.666_791del	p.Gly others(13): Show p.Gly223_Pro264del	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	829/1227	666/1056	222/351			chr12	TogoVar
PRB3_chr12_11260914_11274707	11267655	TGGGGGAC others(119): Show TGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCT TTCCCGGATGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGT GGTCCTTCTGGCTTTCCCGGACGAGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02622.hp1 HG02723.hp1 others(5): Show HG01891.hp2 HG02622.hp1 HG02723.hp1 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG03579.hp1 NA20300.hp2	a0013 a0017 a0029 a0013 a0017 a0029	a0013c0013 a0017c0014 a0029c0039 a0013c0013 a0017c0014 a0029c0039	a0013c0013t0002 a0017c0014t0002 a0029c0039t0002 a0013c0013t0002 a0017c0014t0002 a0029c0039t0002	a0013c0013t0002g0016 a0017c0014t0002g0018 a0029c0039t0002g0058 a0013c0013t0002g0016 a0017c0014t0002g0018 a0029c0039t0002g0058	8	443	0.0181	-126	c.468 others(7): Show c.468_593del	p.Pro others(13): Show p.Pro157_Pro198del	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	631/1227	468/1056	156/351			chr12	TogoVar
PRB3_chr12_11260914_11274707	11267713	TGAGGCGG others(119): Show TGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTC TGGCTTTCCCGGACGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTG GGGGTGGTCCTTCTGGCTTTCCCGGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00673.hp1 HG01070.hp1 HG01074.hp2 others(5): Show HG00673.hp1 HG01070.hp1 HG01074.hp2 HG02071.hp1 HG02135.hp1 NA18747.hp1 NA19088.hp2 NA20805.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0003 a0009c0009t0001 a0009c0009t0003	a0009c0009t0001g0010 a0009c0009t0003g0047 a0009c0009t0001g0010 a0009c0009t0003g0047	8	443	0.0181	-126	c.410 others(7): Show c.410_535del	p.Arg others(13): Show p.Arg137_Pro178del	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	573/1227	410/1056	137/351			chr12	TogoVar
PRB3_chr12_11260914_11274707	11267818	GGTCCTTC others(119): Show GGTCCTTCTGGCTTTCCCGGACGAGGCGGGGGACCTTGGGACTGGTTTCC TCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTT GGGACTGGTTTCCTCCTTGTGGGGGTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02074.hp2 HG02717.hp1 HG03225.hp2 others(1): Show HG02074.hp2 HG02717.hp1 HG03225.hp2 NA19085.hp2	a0020 a0021 a0020 a0021	a0020c0025 a0021c0027 a0020c0025 a0021c0027	a0020c0025t0001 a0021c0027t0001 a0020c0025t0001 a0021c0027t0001	a0020c0025t0001g0028 a0021c0027t0001g0030 a0020c0025t0001g0028 a0021c0027t0001g0030	4	443	0.0090	-126	c.305 others(7): Show c.305_430del	p.Gln others(13): Show p.Gln102_Gly143del	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	468/1227	305/1056	102/351			chr12	TogoVar
PRKAA1_chr5_40754389_40803374	40800771	GGGGGGGT others(119): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGATGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCTGGGAGGGTGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 NA18973.hp1 NA19006.hp1 HG02056.hp1 NA18973.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0024 a0001c0001t0001 a0001c0001t0005 a0001c0001t0024	a0001c0001t0001g0001 a0001c0001t0005g0291 a0001c0001t0024g0109 a0001c0001t0001g0001 a0001c0001t0005g0291 a0001c0001t0024g0109	3	402	0.0075	-126	c.-27 others(11): Show c.-2708_-2583del		PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding					2398		chr5	TogoVar
PRKAA1_chr5_40754389_40803374	40800782	CCCCCCGC others(119): Show CCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGATGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCTGGGAGGGTGGTGGGGGGGTCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	402	0.0025	-126	c.-27 others(11): Show c.-2719_-2594del		PRKAA1	ENSG00000132356.12	transcript	ENST00000397128.7	protein_coding					2409		chr5	TogoVar

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