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
PLPP4_chr10_120452227_120597065	120574168	ACTCTCTC others(13): Show ACTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01975.hp2 HG02056.hp1 others(25): Show HG01891.hp2 HG01975.hp2 HG02056.hp1 HG02135.hp1 HG02523.hp2 HG02622.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18953.hp1 NA18961.hp1 NA18966.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18985.hp1 NA18989.hp1 NA18993.hp2 NA19011.hp1 NA19057.hp2 NA19062.hp2 NA19077.hp1 NA19083.hp2 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0009 others(1): Show a0001c0001 a0001c0003 a0002c0009 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0036 a0001c0003t0011 a0001c0003t0012 a0001c0003t0022 a0002c0009t0012 a0003c0007t0002	a0001c0001t0001g0106 a0001c0001t0002g0141 a0001c0001t0002g0233 others(25): Show a0001c0001t0001g0106 a0001c0001t0002g0141 a0001c0001t0002g0233 a0001c0001t0006g0003 a0001c0001t0007g0129 a0001c0001t0007g0133 a0001c0001t0007g0177 a0001c0001t0007g0243 a0001c0001t0007g0247 a0001c0001t0007g0298 a0001c0001t0007g0302 a0001c0001t0007g0323 a0001c0001t0008g0121 a0001c0001t0014g0228 a0001c0001t0036g0219 a0001c0003t0011g0024 a0001c0003t0011g0027 a0001c0003t0011g0032 a0001c0003t0011g0038 a0001c0003t0011g0056 a0001c0003t0011g0058 a0001c0003t0011g0096 a0001c0003t0012g0023 a0001c0003t0012g0025 a0001c0003t0012g0081 a0001c0003t0022g0019 a0002c0009t0012g0021 a0003c0007t0002g0234	28	328	0.0854	-20	c.446 others(35): Show c.446-927_446-908delTCTCTCTCTCTCTCTCTCTC	PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLPP4_chr10_120452227_120597065	120582753	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0195 a0001c0001t0056g0195	1	328	0.0031	-20	c.617 others(37): Show c.617-6530_617-6511delTCCTCCCTCCCTCCCTCCCT	PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLPPR1_chr9_101023727_101330135	101078168	AAGAAGAA others(13): Show AAGAAGAAGAAGAAGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01261.hp1 HG02717.hp1 others(1): Show HG00438.hp2 HG01261.hp1 HG02717.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0002t0008	a0001c0001t0001g0036 a0001c0001t0002g0044 a0001c0001t0025g0186 others(1): Show a0001c0001t0001g0036 a0001c0001t0002g0044 a0001c0001t0025g0186 a0001c0002t0008g0135	4	203	0.0197	-20	c.-46 others(39): Show c.-46+49069_-46+49088delAAGAAGAAGAAGAAGAGGAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101180094	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp2 NA19003.hp1 others(1): Show HG02809.hp1 NA18522.hp2 NA19003.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0003	a0001c0001t0001g0203 a0001c0001t0002g0152 a0001c0001t0005g0201 others(1): Show a0001c0001t0001g0203 a0001c0001t0002g0152 a0001c0001t0005g0201 a0001c0005t0003g0052	4	203	0.0197	-20	c.-45 others(37): Show c.-45-5325_-45-5306delTATATATATATATATATATA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101180125	TATATATA others(13): Show TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02109.hp2 others(4): Show HG01255.hp2 HG01884.hp2 HG02109.hp2 HG03225.hp2 HG03540.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0002t0003	a0001c0001t0002g0121 a0001c0001t0002g0134 a0001c0001t0002g0147 others(4): Show a0001c0001t0002g0121 a0001c0001t0002g0134 a0001c0001t0002g0147 a0001c0001t0010g0132 a0001c0001t0012g0059 a0001c0001t0020g0060 a0001c0002t0003g0041	7	203	0.0345	-20	c.-45 others(37): Show c.-45-5323_-45-5304delTATATATATATATATATACA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101246055	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01109.hp2 others(3): Show HG00099.hp1 HG00639.hp1 HG01109.hp2 HG01516.hp1 HG01978.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0101 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0002g0027 a0001c0001t0004g0193	6	203	0.0296	-20	c.64- others(37): Show c.64-23789_64-23770delTATATATATATATATATATA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLRG1_chr4_154530005_154555400	154554827	AAAAATAT others(13): Show AAAAATATTCTTATTAGTCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	-20	c.-45 others(31): Show c.-4539_-4520delGTGACTAATAAGAATATTTT	PLRG1	ENSG00000171566.12	transcript	ENST00000499023.7	protein_coding		4428		chr4	TogoVar
PLS1_chr3_142591393_142718664	142695757	CTTACTTA others(13): Show CTTACTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00639.hp1 others(31): Show HG00423.hp2 HG00597.hp2 HG00639.hp1 HG01192.hp2 HG01934.hp1 HG02056.hp2 HG02071.hp2 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02523.hp2 HG02683.hp2 HG03540.hp2 HG03579.hp1 HG04199.hp1 NA18747.hp1 NA18953.hp2 NA18960.hp1 NA18962.hp1 NA18971.hp1 NA18984.hp2 NA18995.hp2 NA18998.hp1 NA19005.hp2 NA19006.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19077.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0014 a0001c0001t0001 a0001c0002t0001 a0001c0002t0014	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(31): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0105 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0215 a0001c0001t0001g0241 a0001c0001t0001g0256 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0081 a0001c0002t0014g0067	34	276	0.1232	-20	c.125 others(39): Show c.1256+1214_1256+1233delCTTATTTATTTATTTATTTA	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLVAP_chr19_17346455_17382342	17349144	TTCTTTCT others(13): Show TTCTTTCTTTCTTTCTTTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	436	0.0023	-20	c.31 others(31): Show c.3198_*3217delGAGAAAGAAAGAAAGAAAGA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2310		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349148	TTCTTTCT others(13): Show TTCTTTCTTTCTTTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0407 a0001c0001t0003g0407	1	436	0.0023	-20	c.31 others(31): Show c.3194_*3213delGAGAGAGAAAGAAAGAAAGA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2306		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349152	TTCTTTCT others(13): Show TTCTTTCTTTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	436	0.0023	-20	c.31 others(31): Show c.3190_*3209delGAGAGAGAGAGAAAGAAAGA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2302		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17381457	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02258.hp1 NA18522.hp2 others(1): Show HG00280.hp1 HG02258.hp1 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0004g0020 others(1): Show a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0004g0020 a0001c0001t0011g0142	4	436	0.0092	-20	c.-41 others(31): Show c.-4189_-4170delAAAAAAAAAAAAAAAAAAAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4116		chr19	TogoVar
PLXDC2_chr10_19811432_20294856	19837399	AGAGAGAG others(13): Show AGAGAGAGAGAGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp2 HG01123.hp2 HG01261.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0117 a0003c0003t0023 a0001c0001t0117 a0003c0003t0023	a0001c0001t0117g0060 a0003c0003t0023g0047 a0001c0001t0117g0060 a0003c0003t0023g0047	2	180	0.0111	-20	c.112 others(39): Show c.112+20210_112+20229delAGAGAGAGAGTGTGTGTGTG	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	19852425	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp1 HG01109.hp1 others(16): Show HG00323.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01261.hp2 HG01516.hp1 HG01891.hp1 HG02080.hp2 HG02129.hp2 HG03453.hp1 HG03654.hp2 HG04228.hp1 NA18747.hp2 NA18961.hp1 NA18973.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0004 a0001c0001t0015 a0001c0001t0021 others(16): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0021 a0001c0001t0074 a0001c0001t0117 a0001c0001t0122 a0001c0005t0119 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0052 a0002c0002t0090 a0003c0003t0009 a0003c0003t0018 a0003c0003t0043 a0003c0003t0079 a0003c0003t0105 a0003c0003t0108 a0004c0004t0008	a0001c0001t0004g0128 a0001c0001t0015g0164 a0001c0001t0021g0101 others(16): Show a0001c0001t0004g0128 a0001c0001t0015g0164 a0001c0001t0021g0101 a0001c0001t0074g0110 a0001c0001t0117g0060 a0001c0001t0122g0051 a0001c0005t0119g0042 a0002c0002t0002g0167 a0002c0002t0006g0075 a0002c0002t0007g0058 a0002c0002t0052g0174 a0002c0002t0090g0148 a0003c0003t0009g0020 a0003c0003t0018g0091 a0003c0003t0043g0025 a0003c0003t0079g0090 a0003c0003t0105g0087 a0003c0003t0108g0036 a0004c0004t0008g0016	19	180	0.1056	-20	c.112 others(39): Show c.112+35255_112+35274delAAAAAAAAAAAAAAAAAAAA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20014382	GCTTCCTT others(13): Show GCTTCCTTCCTTCCTTCCTTC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02129.hp1 HG02280.hp1 others(17): Show HG01192.hp2 HG02129.hp1 HG02280.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp2 NA18906.hp1 NA18961.hp1 NA18964.hp1 NA18973.hp1 NA19085.hp1 NA19085.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0030 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0030 a0001c0001t0031 a0001c0001t0059 a0001c0001t0068 a0001c0001t0100 a0001c0001t0123 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0019 a0002c0002t0026 a0002c0002t0090 a0002c0002t0092 a0003c0003t0018	a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0004g0128 others(17): Show a0001c0001t0001g0133 a0001c0001t0001g0152 a0001c0001t0004g0128 a0001c0001t0030g0001 a0001c0001t0031g0004 a0001c0001t0059g0150 a0001c0001t0068g0173 a0001c0001t0100g0117 a0001c0001t0123g0046 a0002c0002t0002g0017 a0002c0002t0002g0167 a0002c0002t0006g0151 a0002c0002t0007g0037 a0002c0002t0007g0038 a0002c0002t0019g0102 a0002c0002t0026g0136 a0002c0002t0026g0159 a0002c0002t0090g0148 a0002c0002t0092g0078 a0003c0003t0018g0098	20	180	0.1111	-20	c.324 others(39): Show c.324+12425_324+12444delCTTCCTTCCTTCCTTCCTTC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20044211	GTCTTTCT others(13): Show GTCTTTCTTTCTTTCTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03098.hp2 NA18978.hp1 others(1): Show HG00673.hp1 HG03098.hp2 NA18978.hp1 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0055 a0001c0001t0115 a0002c0002t0053 others(1): Show a0001c0001t0055 a0001c0001t0115 a0002c0002t0053 a0003c0003t0009	a0001c0001t0055g0024 a0001c0001t0115g0072 a0002c0002t0053g0139 others(1): Show a0001c0001t0055g0024 a0001c0001t0115g0072 a0002c0002t0053g0139 a0003c0003t0009g0180	4	180	0.0222	-20	c.325 others(37): Show c.325-2593_325-2574delTCTTTCTTTCTTTCTTTCTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20051395	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01167.hp2 HG01168.hp1 others(22): Show HG00733.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01496.hp1 HG02129.hp2 HG02647.hp1 HG02717.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18945.hp2 NA18954.hp1 NA18959.hp1 NA18982.hp1 NA19030.hp2 NA19084.hp2 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 others(21): Show a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0028 a0001c0001t0071 a0001c0001t0072 a0001c0001t0127 a0001c0005t0056 a0001c0005t0119 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0019 a0002c0002t0020 a0002c0002t0026 a0002c0002t0092 a0002c0002t0112 a0003c0003t0008 a0003c0003t0009 a0003c0003t0018 a0003c0003t0079 a0003c0003t0082 a0003c0003t0107 a0004c0004t0022	a0001c0001t0014g0019 a0001c0001t0015g0015 a0001c0001t0017g0106 others(22): Show a0001c0001t0014g0019 a0001c0001t0015g0015 a0001c0001t0017g0106 a0001c0001t0017g0144 a0001c0001t0028g0161 a0001c0001t0071g0074 a0001c0001t0072g0062 a0001c0001t0127g0137 a0001c0005t0056g0023 a0001c0005t0119g0042 a0002c0002t0002g0175 a0002c0002t0005g0113 a0002c0002t0006g0012 a0002c0002t0019g0102 a0002c0002t0020g0080 a0002c0002t0026g0159 a0002c0002t0092g0078 a0002c0002t0112g0035 a0003c0003t0008g0018 a0003c0003t0009g0020 a0003c0003t0018g0091 a0003c0003t0079g0090 a0003c0003t0082g0147 a0003c0003t0107g0070 a0004c0004t0022g0065	25	180	0.1389	-20	c.471 others(37): Show c.471+4409_471+4428delATATATATATATATATATAT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20089169	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0154 a0001c0001t0128g0154	1	180	0.0056	-20	c.541 others(39): Show c.541+20957_541+20976delGTGTGTGTGTGTGTGTGTGT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20162067	AGAGAGAA others(13): Show AGAGAGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0077 a0004c0004t0077	a0004c0004t0077g0079 a0004c0004t0077g0079	1	180	0.0056	-20	c.784 others(37): Show c.784-2398_784-2379delGAGAAGGAAGGAAGGAAGGA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20206855	CACACACA others(13): Show CACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp1 HG03486.hp2 others(1): Show HG02717.hp1 HG02922.hp1 HG03486.hp2 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0050 a0001c0001t0051 a0005c0006t0027 others(1): Show a0001c0001t0050 a0001c0001t0051 a0005c0006t0027 a0005c0006t0129	a0001c0001t0050g0125 a0001c0001t0051g0179 a0005c0006t0027g0160 others(1): Show a0001c0001t0050g0125 a0001c0001t0051g0179 a0005c0006t0027g0160 a0005c0006t0129g0138	4	180	0.0222	-20	c.106 others(39): Show c.1062-4798_1062-4779delCACAGACACACACACACACA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208022027	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02602.hp2 HG02809.hp2 others(1): Show HG02074.hp1 HG02602.hp2 HG02809.hp2 NA18941.hp2	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0002 a0005c0030 a0007c0017 a0002c0002 a0005c0030 a0007c0017	a0002c0002t0008 a0005c0030t0033 a0007c0017t0045 a0002c0002t0008 a0005c0030t0033 a0007c0017t0045	a0002c0002t0008g0180 a0002c0002t0008g0185 a0005c0030t0033g0277 others(1): Show a0002c0002t0008g0180 a0002c0002t0008g0185 a0005c0030t0033g0277 a0007c0017t0045g0240	4	312	0.0128	-20	c.51 others(31): Show c.5196_*5215delACACACACACACACACACAC	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding		214		chr1	TogoVar
PLXNA2_chr1_208017242_208249384	208098454	TCTCTCAC others(13): Show TCTCTCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp1 homoSapiens_chm13v2.hp1 HG00642.hp2 HG01358.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0073 a0001c0009t0042 a0001c0001t0073 a0001c0009t0042	a0001c0001t0073g0149 a0001c0009t0042g0191 a0001c0009t0042g0193 a0001c0001t0073g0149 a0001c0009t0042g0191 a0001c0009t0042g0193	3	312	0.0096	-20	c.173 others(37): Show c.1731+372_1731+391delTGTGTGTGTGTGTGTGAGAG	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	6/31			chr1	TogoVar
PLXNA2_chr1_208017242_208249384	208177059	GCTTTGCC others(13): Show GCTTTGCCGACTCTCCCAGAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp2 HG01169.hp1 others(2): Show HG00140.hp1 HG01168.hp2 HG01169.hp1 HG01496.hp2 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0068 a0002c0002t0003 a0002c0003t0004 a0001c0001t0068 a0002c0002t0003 a0002c0003t0004	a0001c0001t0068g0044 a0002c0002t0003g0174 a0002c0002t0003g0175 others(2): Show a0001c0001t0068g0044 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0003t0004g0042 a0002c0003t0004g0043	5	312	0.0160	-20	c.137 others(41): Show c.1371+33201_1371+33220delGTCTGGGAGAGTCGGCAAAG	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA2_chr1_208017242_208249384	208196148	GAAGAAAC others(13): Show GAAGAAACTGATTAATGTTTT	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0158 a0001c0001t0027g0158	1	312	0.0032	-20	c.137 others(41): Show c.1371+14112_1371+14131delAAAACATTAATCAGTTTCTT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132132380	TTGTTCTG others(13): Show TTGTTCTGTTCTGTTCTGTTC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03486.hp1 HG03540.hp2 HG01346.hp1 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0039 a0001c0002 a0001c0020 a0001c0039	a0001c0002t0024 a0001c0020t0012 a0001c0039t0007 a0001c0002t0024 a0001c0020t0012 a0001c0039t0007	a0001c0002t0024g0058 a0001c0020t0012g0037 a0001c0039t0007g0079 a0001c0002t0024g0058 a0001c0020t0012g0037 a0001c0039t0007g0079	3	88	0.0341	-20	c.558 others(37): Show c.5589+649_5589+668delGAACAGAACAGAACAGAACA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132132458	TTCTGTTC others(13): Show TTCTGTTCTGCTCTGCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0070 a0001c0021t0003g0070	1	88	0.0114	-20	c.558 others(37): Show c.5589+571_5589+590delGCAGAGCAGAGCAGAACAGA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132132478	CTCTGCTC others(13): Show CTCTGCTCTGCTCTATTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0014	1	88	0.0114	-20	c.558 others(37): Show c.5589+551_5589+570delAAAGAATAGAGCAGAGCAGA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132132483	CTCTGCTC others(13): Show CTCTGCTCTATTCTTTTCTAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02622.hp1 HG01934.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0008 a0001c0010t0011 a0001c0005t0008 a0001c0010t0011	a0001c0005t0008g0055 a0001c0010t0011g0077 a0001c0005t0008g0055 a0001c0010t0011g0077	2	88	0.0227	-20	c.558 others(37): Show c.5589+546_5589+565delATAGAAAAGAATAGAGCAGA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132132497	TTTCTATT others(13): Show TTTCTATTCTATTCTATTCTA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0063 a0001c0005t0008g0063	1	88	0.0114	-20	c.558 others(37): Show c.5589+532_5589+551delTAGAATAGAATAGAATAGAA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132156135	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0002 a0001c0031t0002	a0001c0031t0002g0083 a0001c0031t0002g0083	1	88	0.0114	-20	c.466 others(39): Show c.4660+3318_4660+3337delGTGTGTGTGTGTGTGTGTGT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132282610	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02723.hp2 HG02965.hp2 HG01081.hp2 HG02723.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0013 a0001c0001t0016 a0001c0021t0003 a0001c0001t0013 a0001c0001t0016 a0001c0021t0003	a0001c0001t0013g0033 a0001c0001t0016g0047 a0001c0021t0003g0070 a0001c0001t0013g0033 a0001c0001t0016g0047 a0001c0021t0003g0070	3	88	0.0341	-20	c.150 others(41): Show c.1503+15461_1503+15480delTTTTTTTTTTTTTTTTTTTT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	4/31			chr7	TogoVar
PLXNC1_chr12_94143577_94312675	94144363	CATGCTAT others(13): Show CATGCTATGCTATGCTATGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00738.hp1 others(24): Show HG00140.hp2 HG00544.hp1 HG00738.hp1 HG01081.hp1 HG01106.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG02015.hp2 HG02074.hp1 HG02165.hp2 HG02698.hp2 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG04204.hp1 HG06807.hp2 NA18951.hp2 NA18965.hp1 NA19003.hp2 NA19076.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0013 a0002c0015 a0002c0034 a0002c0043 a0003c0017 a0003c0025	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0004t0006 a0001c0005t0002 a0001c0006t0014 a0001c0011t0001 a0001c0013t0001 a0002c0015t0001 a0002c0034t0002 a0002c0043t0002 a0003c0017t0004 a0003c0025t0001	a0001c0001t0001g0009 a0001c0001t0001g0119 a0001c0001t0001g0292 others(24): Show a0001c0001t0001g0009 a0001c0001t0001g0119 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0002t0001g0139 a0001c0002t0001g0190 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0004g0204 a0001c0003t0001g0136 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0288 a0001c0003t0005g0291 a0001c0004t0001g0198 a0001c0004t0001g0208 a0001c0004t0006g0066 a0001c0005t0002g0098 a0001c0006t0014g0279 a0001c0011t0001g0287 a0001c0013t0001g0203 a0002c0015t0001g0199 a0002c0015t0001g0274 a0002c0034t0002g0284 a0002c0043t0002g0275 a0003c0017t0004g0286 a0003c0025t0001g0280	27	298	0.0906	-20	c.-46 others(31): Show c.-4608_-4589delATGCTATGCTATGCTATGCT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding		4213		chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94164688	CACACACA others(13): Show CACACACACACACACACACGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19240.hp2 HG02630.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0047 a0001c0001t0016g0196 a0001c0001t0003g0047 a0001c0001t0016g0196	2	298	0.0067	-20	c.106 others(39): Show c.1063-4455_1063-4436delCACACACACGTACACACACA	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PM20D2_chr6_89141055_89170565	89146653	TCGGGGGC others(13): Show TCGGGGGCGACCCGGGAAGGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02965.hp2 others(1): Show HG02055.hp1 HG02559.hp2 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0029 a0001c0001t0013g0045 a0001c0001t0013g0046 a0001c0001t0013g0029 a0001c0001t0013g0045 a0001c0001t0013g0046	4	372	0.0108	-20	c.465 others(33): Show c.465+49_465+68delGGCGACCCGGGAAGGGCGGG	PM20D2	ENSG00000146281.6	transcript	ENST00000275072.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
PMF1_chr1_156208007_156245042	156211056	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	364	0.0028	-20	c.-19 others(31): Show c.-1959_-1940delTGTGTGTGTGTGTGTGTGTG	PMF1	ENSG00000160783.19	transcript	ENST00000368277.3	protein_coding		1950		chr1	TogoVar
PMM1_chr22_41571900_41594840	41572343	TCCACCCA others(13): Show TCCACCCACCCACCCACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp2 others(109): Show HG00099.hp2 HG00140.hp2 HG00423.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02615.hp1 HG02630.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG03098.hp1 HG03453.hp1 HG03490.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18955.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0002g0007 a0001c0001t0002g0065 a0001c0001t0003g0089 a0001c0001t0004g0082	112	330	0.3394	-20	c.49 others(31): Show c.4955_*4974delGTGGGTGGGTGGGTGGGTGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4556		chr22	TogoVar
PMM1_chr22_41571900_41594840	41572371	CCCACCCA others(13): Show CCCACCCACCCACCCACCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	330	0.0030	-20	c.49 others(31): Show c.4927_*4946delATGGGTGGGTGGGTGGGTGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4528		chr22	TogoVar
PMM1_chr22_41571900_41594840	41572387	CCCATCCA others(13): Show CCCATCCATCCATCCATCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00597.hp1 others(63): Show HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18969.hp2 NA18975.hp2 NA18982.hp1 NA18992.hp1 NA19000.hp1 NA19083.hp2 NA19087.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0141 a0001c0001t0001g0142 a0002c0002t0001g0033	66	330	0.2000	-20	c.49 others(31): Show c.4911_*4930delATGGATGGATGGATGGATGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4512		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594335	GGGTGGGG others(13): Show GGGTGGGGGGGTGGGGGAGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	330	0.0030	-20	c.-45 others(31): Show c.-4550_-4531delGCCTCCCCCACCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM2_chr16_8792839_8854325	8827719	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	408	0.0025	-20	c.639 others(39): Show c.639+14636_639+14655delATATATATATATATATATAT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMS1_chr2_189779450_189882629	189860800	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03942.hp1 HG03486.hp1 HG03942.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0200 a0009c0010t0001g0007 a0001c0001t0001g0200 a0009c0010t0001g0007	2	234	0.0086	-20	c.185 others(39): Show c.1857-2923_1857-2904delTTTTTTTTTTTTTTTTTTTT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864685	AAAATATA others(13): Show AAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19030.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0112 a0001c0002t0005g0011 a0001c0001t0002g0112 a0001c0002t0005g0011	2	234	0.0086	-20	c.234 others(37): Show c.2342+459_2342+478delAATATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNISR_chr6_99393050_99430308	99419171	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03453.hp2 HG02976.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0256 a0001c0001t0002g0182 a0001c0001t0002g0256	2	406	0.0049	-20	c.-11 others(39): Show c.-111-2763_-111-2744delCTTTTTTTTTTTTTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNLIPRP3_chr10_116422847_116482957	116443797	GTGTGCAT others(13): Show GTGTGCATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00597.hp1 others(124): Show HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19075.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010	a0001c0001 a0001c0016 a0002c0002 others(5): Show a0001c0001 a0001c0016 a0002c0002 a0003c0003 a0004c0005 a0005c0007 a0008c0010 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0016t0001 a0002c0002t0007 a0002c0002t0008 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0010 a0003c0003t0011 a0004c0005t0001 a0004c0005t0004 a0005c0007t0005 a0005c0007t0007 a0008c0010t0001 a0008c0010t0004 a0010c0011t0004	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0053 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0004g0002 a0001c0001t0004g0183 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0009g0122 a0001c0001t0009g0123 a0001c0016t0001g0109 a0002c0002t0007g0208 a0002c0002t0008g0064 a0002c0002t0008g0132 a0003c0003t0001g0009 a0003c0003t0001g0072 a0003c0003t0001g0075 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0102 a0003c0003t0001g0119 a0003c0003t0001g0136 a0003c0003t0002g0259 a0003c0003t0003g0006 a0003c0003t0003g0019 a0003c0003t0004g0003 a0003c0003t0004g0196 a0003c0003t0004g0210 a0003c0003t0004g0211 a0003c0003t0010g0187 a0003c0003t0011g0047 a0004c0005t0001g0101 a0004c0005t0001g0130 a0004c0005t0004g0003 a0004c0005t0004g0013 a0004c0005t0004g0188 a0004c0005t0004g0204 a0004c0005t0004g0205 a0004c0005t0004g0206 a0004c0005t0004g0207 a0004c0005t0004g0209 a0005c0007t0005g0165 a0005c0007t0007g0012 a0005c0007t0007g0176 a0005c0007t0007g0177 a0005c0007t0007g0180 a0005c0007t0007g0181 a0008c0010t0001g0094 a0008c0010t0004g0202 a0010c0011t0004g0189 a0010c0011t0004g0190	127	288	0.4410	-20	c.325 others(35): Show c.325-583_325-564delGTGCATATATATATATATAT	PNLIPRP3	ENSG00000203837.5	transcript	ENST00000369230.4	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNLIPRP3_chr10_116422847_116482957	116443799	GTGCATAT others(13): Show GTGCATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18747.hp2 NA18940.hp2 others(5): Show HG01081.hp1 NA18747.hp2 NA18940.hp2 NA18945.hp1 NA18954.hp1 NA18975.hp1 NA19078.hp2 NA19079.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0010c0011	a0001c0001t0003 a0002c0002t0008 a0003c0003t0001 others(3): Show a0001c0001t0003 a0002c0002t0008 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0010c0011t0003	a0001c0001t0003g0049 a0002c0002t0008g0106 a0003c0003t0001g0079 others(5): Show a0001c0001t0003g0049 a0002c0002t0008g0106 a0003c0003t0001g0079 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0004g0191 a0010c0011t0003g0048	8	288	0.0278	-20	c.325 others(35): Show c.325-581_325-562delGCATATATATATATATATAT	PNLIPRP3	ENSG00000203837.5	transcript	ENST00000369230.4	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNLIP_chr10_116540931_116572855	116569846	GTCATTTT others(13): Show GTCATTTTTAAGCACTGCACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	276	0.0036	-20	c.20 others(31): Show c.2049_*2068delTCATTTTTAAGCACTGCACT	PNLIP	ENSG00000175535.6	transcript	ENST00000369221.2	protein_coding		1992		chr10	TogoVar
PNMA6E_chrX_153390639_153406350	153391217	CCACACAC others(13): Show CCACACACACACCACACACCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	346	0.0029	-20	c.56 others(31): Show c.5669_*5688delTGGTGTGTGGTGTGTGTGTG	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4421		chrX	TogoVar
PNMA8C_chr19_46419697_46433936	46430341	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG03209.hp1 HG02055.hp1 HG02647.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0050 a0001c0001t0026 a0001c0001t0050	a0001c0001t0026g0000 a0001c0001t0050g0000 a0001c0001t0026g0000 a0001c0001t0050g0000	3	442	0.0068	-20	c.-20 others(31): Show c.-2002_-1983delGAAGGAAGGAAGGAAGGAAG	PNMA8C	ENSG00000277531.3	transcript	ENST00000617053.3	protein_coding		1406		chr19	TogoVar
PNN_chr14_39170254_39188220	39184438	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp1 others(70): Show HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG01081.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02300.hp1 HG02602.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG03942.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18952.hp1 NA18952.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA20752.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0002c0006 a0007c0015 a0002c0003 a0002c0006 a0007c0015	a0002c0003t0001 a0002c0006t0001 a0007c0015t0001 a0002c0003t0001 a0002c0006t0001 a0007c0015t0001	a0002c0003t0001g0003 a0002c0003t0001g0010 a0002c0003t0001g0013 others(12): Show a0002c0003t0001g0003 a0002c0003t0001g0010 a0002c0003t0001g0013 a0002c0003t0001g0018 a0002c0003t0001g0033 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0006t0001g0003 a0002c0006t0001g0023 a0007c0015t0001g0081	73	444	0.1644	-20	c.25 others(31): Show c.2576_*2595delTTTTTTTTTTTTTTTTTGTA	PNN	ENSG00000100941.9	transcript	ENST00000216832.9	protein_coding		1219		chr14	TogoVar
PNPLA4_chrX_7893247_7932413	7903274	GTTTATTT others(13): Show GTTTATTTATTTATTTATTTA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0056 a0001c0001t0010g0056	1	338	0.0030	-20	c.478 others(37): Show c.478-1153_478-1134delTAAATAAATAAATAAATAAA	PNPLA4	ENSG00000006757.12	transcript	ENST00000381042.9	protein_coding	5/6			chrX	TogoVar

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