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
PLS3_chrX_115556174_115655861	115655774	G G	GTAAGTGA others(14): Show GTAAGTGACTTTCCTTCTTAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	252	0.0040	21	c.62 others(32): Show c.6213_*6214insTAAGTGACTTTCCTTCTTAGT	PLS3	ENSG00000102024.19	transcript	ENST00000355899.8	protein_coding		4914		chrX	TogoVar
PLSCR4_chr3_146187335_146256105	146191738	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0154 a0003c0003t0010g0154	1	176	0.0057	21	c.26 others(32): Show c.2672_*2673insAAAAATATATATATATATATA	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		596		chr3	TogoVar
PLSCR4_chr3_146187335_146256105	146191739	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	334	0.0030	21	c.26 others(32): Show c.2671_*2672insTATATATATATATATATATAT	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		595		chr3	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02602.hp2 NA18971.hp1 others(1): Show HG01515.hp2 HG02602.hp2 NA18971.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0268 a0001c0001t0001g0307 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0268 a0001c0001t0001g0307 a0001c0001t0001g0368	4	167	0.0240	21	c.-49 others(32): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382280	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 NA18977.hp2 NA19004.hp1 others(2): Show HG02698.hp1 NA18977.hp2 NA19004.hp1 NA19086.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0264 a0001c0001t0002g0035 a0001c0001t0002g0038 others(2): Show a0001c0001t0001g0264 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0003g0270 a0001c0001t0004g0123	5	51	0.0980	21	c.-49 others(32): Show c.-4993_-4992insCTTTCTTTCTTTCTTTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4939		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39128117	A A	ATATATAT others(14): Show ATATATATATATATATTGTATG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0297 a0001c0001t0012g0297	1	205	0.0049	21	c.255 others(40): Show c.255+11536_255+11537insCATACAATATATATATATATA	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	19883884	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0085 a0001c0001t0014g0085	1	15	0.0667	21	c.112 others(40): Show c.112+66700_112+66720dupTTTTTTTTTTTTTTTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA1_chr3_126978115_127042389	127013908	T T	TGGCTGCA others(14): Show TGGCTGCAGAAACTTCCCCCGG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0184 a0001c0001t0010g0184	1	344	0.0029	21	c.231 others(36): Show c.2314-93_2314-92insGGGGCTGCAGAAACTTCCCCC	PLXNA1	ENSG00000114554.12	transcript	ENST00000393409.3	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLXNA2_chr1_208017242_208249384	208186708	A A	ATTTTGTT others(14): Show ATTTTGTTTTTTGTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(62): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00621.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01516.hp1 HG01934.hp2 HG02040.hp1 HG02074.hp2 HG02109.hp2 HG02165.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02698.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18942.hp1 NA18951.hp2 NA18963.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp1 NA18983.hp1 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp2 NA19083.hp1 NA19084.hp1 NA19240.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0013	a0001c0001 a0001c0004 a0001c0019 others(19): Show a0001c0001 a0001c0004 a0001c0019 a0002c0002 a0002c0003 a0002c0024 a0002c0025 a0002c0029 a0002c0045 a0002c0046 a0002c0057 a0002c0062 a0002c0064 a0003c0005 a0003c0010 a0004c0006 a0004c0008 a0005c0007 a0005c0030 a0005c0031 a0005c0065 a0013c0052	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(52): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0027 a0001c0001t0032 a0001c0001t0046 a0001c0001t0077 a0001c0001t0103 a0001c0001t0107 a0001c0004t0003 a0001c0004t0011 a0001c0004t0012 a0001c0004t0013 a0001c0004t0033 a0001c0004t0044 a0001c0004t0055 a0001c0004t0097 a0001c0019t0001 a0001c0019t0009 a0002c0002t0008 a0002c0002t0019 a0002c0003t0002 a0002c0003t0004 a0002c0003t0013 a0002c0003t0026 a0002c0003t0070 a0002c0003t0098 a0002c0024t0059 a0002c0025t0001 a0002c0029t0014 a0002c0029t0062 a0002c0045t0051 a0002c0046t0038 a0002c0057t0002 a0002c0062t0080 a0002c0064t0002 a0003c0005t0006 a0003c0010t0069 a0004c0006t0002 a0004c0006t0028 a0004c0006t0040 a0004c0006t0071 a0004c0008t0007 a0004c0008t0030 a0005c0007t0007 a0005c0007t0014 a0005c0007t0037 a0005c0007t0081 a0005c0007t0090 a0005c0030t0096 a0005c0031t0036 a0005c0065t0043 a0013c0052t0002	a0001c0001t0001g0156 a0001c0001t0001g0195 a0001c0001t0005g0090 others(62): Show a0001c0001t0001g0156 a0001c0001t0001g0195 a0001c0001t0005g0090 a0001c0001t0006g0104 a0001c0001t0006g0169 a0001c0001t0007g0099 a0001c0001t0007g0101 a0001c0001t0021g0268 a0001c0001t0027g0105 a0001c0001t0032g0240 a0001c0001t0046g0257 a0001c0001t0077g0051 a0001c0001t0103g0278 a0001c0001t0107g0310 a0001c0004t0003g0103 a0001c0004t0011g0008 a0001c0004t0012g0102 a0001c0004t0012g0146 a0001c0004t0013g0249 a0001c0004t0033g0262 a0001c0004t0044g0239 a0001c0004t0055g0004 a0001c0004t0097g0280 a0001c0019t0001g0108 a0001c0019t0009g0272 a0002c0002t0008g0149 a0002c0002t0019g0140 a0002c0003t0002g0073 a0002c0003t0002g0075 a0002c0003t0002g0078 a0002c0003t0004g0144 a0002c0003t0004g0145 a0002c0003t0013g0237 a0002c0003t0026g0079 a0002c0003t0070g0086 a0002c0003t0098g0276 a0002c0024t0059g0031 a0002c0025t0001g0072 a0002c0029t0014g0256 a0002c0029t0062g0069 a0002c0045t0051g0027 a0002c0046t0038g0095 a0002c0057t0002g0160 a0002c0062t0080g0213 a0002c0064t0002g0068 a0003c0005t0006g0151 a0003c0010t0069g0036 a0004c0006t0002g0037 a0004c0006t0002g0038 a0004c0006t0002g0039 a0004c0006t0028g0113 a0004c0006t0040g0096 a0004c0006t0071g0206 a0004c0008t0007g0197 a0004c0008t0030g0254 a0005c0007t0007g0148 a0005c0007t0014g0223 a0005c0007t0037g0147 a0005c0007t0081g0243 a0005c0007t0090g0259 a0005c0030t0096g0295 a0005c0031t0036g0034 a0005c0031t0036g0035 a0005c0065t0043g0235 a0013c0052t0002g0052	65	269	0.2416	21	c.137 others(42): Show c.1371+23571_1371+23572insAACAAAAAACAAAAAACAAAA	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132172758	T T	TATAATAA others(14): Show TATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	37	0.0270	21	c.401 others(40): Show c.4017+1999_4017+2019dupTATTATTATTATTATTATTAT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	21/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132188997	A A	AGGAAAGG others(14): Show AGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0055	1	67	0.0149	21	c.285 others(40): Show c.2857-1391_2857-1390insCTTTCCTTTCCTTTCCTTTCC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132312149	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG03139.hp2 HG02647.hp2 HG02723.hp2 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0036 a0001c0001 a0001c0006 a0004c0036	a0001c0001t0013 a0001c0006t0005 a0004c0036t0006 a0001c0001t0013 a0001c0006t0005 a0004c0036t0006	a0001c0001t0013g0033 a0001c0006t0005g0065 a0004c0036t0006g0031 a0001c0001t0013g0033 a0001c0006t0005g0065 a0004c0036t0006g0031	3	52	0.0577	21	c.137 others(42): Show c.1372-13948_1372-13928dupATTATTATTATTATTATTATT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132322184	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0002 a0001c0027t0002	a0001c0027t0002g0026 a0001c0027t0002g0026	1	15	0.0667	21	c.137 others(42): Show c.1372-23963_1372-23962insAAAAAAAAAAAAAAAAAAAAA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132561913	T T	TATCCTCC others(14): Show TATCCTCCTCCTCATCCTCCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0055	1	86	0.0116	21	c.-87 others(40): Show c.-87+14488_-87+14508dupGAGGAGGATGAGGAGGAGGAT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(14): Show GGAGGGGGGAGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG00438.hp1 HG00673.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0007c0029 a0001c0003 a0007c0029	a0001c0003t0001 a0007c0029t0001 a0001c0003t0001 a0007c0029t0001	a0001c0003t0001g0020 a0007c0029t0001g0089 a0001c0003t0001g0020 a0007c0029t0001g0089	2	103	0.0194	21	c.-29 others(30): Show c.-295_-294insTTCCCCCTCCCCTCCCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGATGGGG others(14): Show GGATGGGGGAGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0002 a0009c0020t0002	a0009c0020t0002g0022 a0009c0020t0002g0022	1	102	0.0098	21	c.-29 others(30): Show c.-295_-294insTTCCCCCTCCCCTCCCCCATC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307781	A A	AGGGGAGG others(14): Show AGGGGAGGGGGAAGAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0100 a0002c0009t0002g0100	1	261	0.0038	21	c.-30 others(30): Show c.-303_-302insCTCCCCCTCTTCCCCCTCCCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		136		chr22	TogoVar
PLXNC1_chr12_94143577_94312675	94268588	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0003 a0002c0030t0003	a0002c0030t0003g0061 a0002c0030t0003g0061	1	151	0.0066	21	c.359 others(40): Show c.3597+3367_3597+3387dupTTTTTTTTTTTTTTTTTTTTT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(14): Show GGGTGGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	200	0.0050	21	c.-45 others(32): Show c.-4531_-4530insGCCTCCCCCACCCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594338	T T	TGGGGGGG others(14): Show TGGGGGGGGTGGGGGAGGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01099.hp1 HG02630.hp2 others(2): Show HG00741.hp2 HG01099.hp1 HG02630.hp2 HG03688.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0082	5	247	0.0202	21	c.-45 others(32): Show c.-4534_-4533insACCGCCTCCCCCACCCCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4499		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594338	T T	TGGGGGGG others(14): Show TGGGGGGGTGGGGGAGGCGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 NA20300.hp1 HG04199.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0139 a0001c0001t0001g0076 a0001c0001t0001g0139	2	244	0.0082	21	c.-45 others(32): Show c.-4534_-4533insCACCGCCTCCCCCACCCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4499		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594358	T T	TGGGGGGG others(14): Show TGGGGGGGTGGGGGAGGCGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02257.hp1 HG03239.hp1 others(3): Show HG02080.hp1 HG02257.hp1 HG03239.hp1 HG03486.hp2 HG03579.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0030	6	296	0.0203	21	c.-45 others(32): Show c.-4554_-4553insCACCGCCTCCCCCACCCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4519		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594366	T T	TGGGGGAG others(14): Show TGGGGGAGGCGGTGGGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	328	0.0030	21	c.-45 others(32): Show c.-4562_-4561insCACCCCCCCACCGCCTCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4527		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594378	T T	TGGGGGGG others(14): Show TGGGGGGGTGGGGGAGGCGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02145.hp2 HG03098.hp1 others(7): Show HG00280.hp1 HG02145.hp2 HG03098.hp1 HG04204.hp2 HG04228.hp1 NA18950.hp1 NA18979.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127	10	305	0.0328	21	c.-45 others(32): Show c.-4574_-4573insCACCGCCTCCCCCACCCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4539		chr22	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18987.hp2 NA18953.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0244 a0001c0001t0002g0215 a0001c0001t0002g0244	2	64	0.0313	21	c.41 others(32): Show c.4152_*4153insTTTTTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0002 a0008c0022t0002	a0008c0022t0002g0219 a0008c0022t0002g0219	1	45	0.0222	21	c.-95 others(30): Show c.-956_-955insATATATATATTTTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0077 a0002c0004t0001g0077	1	45	0.0222	21	c.-95 others(30): Show c.-956_-955insATATATATATATTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA19001.hp1 NA18993.hp2 NA19001.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0011 a0002c0002 a0007c0011	a0002c0002t0002 a0007c0011t0002 a0002c0002t0002 a0007c0011t0002	a0002c0002t0002g0230 a0007c0011t0002g0245 a0002c0002t0002g0230 a0007c0011t0002g0245	2	46	0.0435	21	c.-95 others(30): Show c.-956_-955insATATATATATATATTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA19074.hp2 NA19084.hp1 NA18944.hp2 NA19074.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0008 a0002c0002t0002 a0002c0004t0008	a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0004t0008g0223 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0004t0008g0223	3	47	0.0638	21	c.-95 others(30): Show c.-956_-955insATATATATATATATATTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAATAT others(14): Show AAAAATATACATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03453.hp1 HG02723.hp2 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0322 a0001c0008t0007g0340 a0001c0008t0007g0322 a0001c0008t0007g0340	2	46	0.0435	21	c.-95 others(30): Show c.-956_-955insATATATATATATGTATATTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02976.hp2 HG02965.hp1 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0334 a0001c0003t0004g0335 a0001c0003t0004g0334 a0001c0003t0004g0335	2	46	0.0435	21	c.-95 others(30): Show c.-956_-955insATATATATATATATATATTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG04204.hp2 HG00609.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0051 a0001c0001t0001 a0001c0001t0051	a0001c0001t0001g0141 a0001c0001t0051g0129 a0001c0001t0001g0141 a0001c0001t0051g0129	2	46	0.0435	21	c.-95 others(30): Show c.-956_-955insATATATATATATATATATATT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNKD_chr2_218265519_218351793	218325198	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	23	0.0435	21	c.237 others(40): Show c.237-14581_237-14561dupTTTTTTTTTTTTTTTTTTTTT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNLIPRP1_chr10_116585959_116614175	116607020	T T	TTAATAAT others(14): Show TTAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02602.hp1 HG02602.hp2 others(2): Show HG00423.hp1 HG02602.hp1 HG02602.hp2 HG03453.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0123 a0001c0002t0001g0131 others(2): Show a0001c0002t0001g0089 a0001c0002t0001g0123 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0200	5	317	0.0158	21	c.134 others(40): Show c.1340+1475_1340+1495dupAATAATAATAATAATAATAAT	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA6A_chrX_153067454_153080019	153072705	C C	CGGTCCGG others(14): Show CGGTCCGGGGTCCGGGGTCCGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0010 a0007c0010t0010	a0007c0010t0010g0006 a0007c0010t0010g0006	1	79	0.0127	21	c.-12 others(38): Show c.-129+116_-129+136dupTCCGGGGTCCGGGGTCCGGGG	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153077288	C C	CCCCCGGA others(14): Show CCCCCGGACCCCGGACCCCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0010 a0007c0010t0010	a0007c0010t0010g0006 a0007c0010t0010g0006	1	79	0.0127	21	c.30 others(32): Show c.3026_*3027insCCCCGGACCCCGGACCCCGGA	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding		2270		chrX	TogoVar
PNOC_chr8_28312268_28348351	28330396	A A	ATTTTATT others(14): Show ATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03516.hp2 HG02818.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0318 a0001c0001t0001g0184 a0001c0001t0001g0318	2	234	0.0085	21	c.126 others(38): Show c.126+1117_126+1118insATTTTATTTTATTTTATTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNOC_chr8_28312268_28348351	28330396	A A	ATTTTATT others(14): Show ATTTTATTTTATTTTATTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	233	0.0043	21	c.126 others(38): Show c.126+1117_126+1118insATTTTATTTTATTTTTTTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNOC_chr8_28312268_28348351	28330400	T T	TATTTTAT others(14): Show TATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp2 HG02922.hp2 others(2): Show HG02451.hp1 HG02886.hp2 HG02922.hp2 HG03209.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0296 a0001c0001t0001g0315 others(2): Show a0001c0001t0001g0214 a0001c0001t0001g0296 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317	5	350	0.0143	21	c.126 others(38): Show c.126+1117_126+1118insATTTTATTTTATTTTATTTTA	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3			chr8	TogoVar
PNPLA1_chr6_36265060_36318955	36282212	G G	GGAAGGGA others(14): Show GGAAGGGAAGGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0223 a0005c0005t0002g0223	1	36	0.0278	21	c.206 others(38): Show c.206-9107_206-9106insAAGGGAAGGGAAGGAAGGAAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA3_chr22_43918805_43952582	43924238	C C	CCCTCCGA others(14): Show CCCTCCGAGGCAGATGCTTCCT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0018 a0010c0012t0018	a0010c0012t0018g0053 a0010c0012t0018g0053	1	418	0.0024	21	c.187 others(36): Show c.187+141_187+161dupCCTCCGAGGCAGATGCTTCCT	PNPLA3	ENSG00000100344.11	transcript	ENST00000216180.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PNPLA7_chr9_137454952_137555402	137492768	A A	AGGGCAGG others(14): Show AGGGCAGGGCCATGGGCTGGGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0183 a0001c0035t0001g0183	1	185	0.0054	21	c.219 others(38): Show c.2197+224_2197+244dupACCCAGCCCATGGCCCTGCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137492906	C C	CAGGGCGG others(14): Show CAGGGCGGGGCCATGGGCTGGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA20129.hp1 HG02071.hp1 NA20129.hp1	a0001 a0034 a0001 a0034	a0001c0001 a0034c0055 a0001c0001 a0034c0055	a0001c0001t0001 a0034c0055t0001 a0001c0001t0001 a0034c0055t0001	a0001c0001t0001g0141 a0034c0055t0001g0093 a0001c0001t0001g0141 a0034c0055t0001g0093	2	186	0.0108	21	c.219 others(37): Show c.2197+86_2197+106dupCCCAGCCCATGGCCCCGCCCT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137492928	A A	AGGGCGGG others(14): Show AGGGCGGGGCCATGGGCTGGGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0003 a0013c0016t0003	a0013c0016t0003g0135 a0013c0016t0003g0135	1	186	0.0054	21	c.219 others(36): Show c.2197+64_2197+84dupACCCAGCCCATGGCCCCGCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34			chr9	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0204 a0001c0001t0006g0204	1	183	0.0055	21	c.161 others(38): Show c.161+1784_161+1785insAAAAATATATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PODXL_chr7_131495271_131561628	131524408	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01517.hp1 HG02132.hp2 others(3): Show HG01258.hp2 HG01517.hp1 HG02132.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0002c0001 a0003c0005 others(2): Show a0001c0003 a0002c0001 a0003c0005 a0005c0004 a0005c0023	a0001c0003t0002 a0002c0001t0003 a0003c0005t0001 others(2): Show a0001c0003t0002 a0002c0001t0003 a0003c0005t0001 a0005c0004t0001 a0005c0023t0002	a0001c0003t0002g0223 a0002c0001t0003g0088 a0003c0005t0001g0409 others(3): Show a0001c0003t0002g0223 a0002c0001t0003g0088 a0003c0005t0001g0409 a0005c0004t0001g0388 a0005c0004t0001g0426 a0005c0023t0002g0394	6	426	0.0141	21	c.101 others(40): Show c.101-12976_101-12975insCTCTCTCTCTCTCTCTCTCTC	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03579.hp1 HG02717.hp2 HG03579.hp1	a0001 a0001	a0001c0012 a0001c0046 a0001c0012 a0001c0046	a0001c0012t0014 a0001c0046t0002 a0001c0012t0014 a0001c0046t0002	a0001c0012t0014g0313 a0001c0046t0002g0312 a0001c0012t0014g0313 a0001c0046t0002g0312	2	384	0.0052	21	c.-21 others(32): Show c.-2120_-2119insAAAAAAATATATATATATATA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(14): Show ATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02602.hp1 HG02970.hp1 HG00621.hp1 HG02602.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0183 a0001c0001t0002g0017 a0001c0002t0004g0142 a0001c0001t0001g0183 a0001c0001t0002g0017 a0001c0002t0004g0142	3	190	0.0158	21	c.358 others(36): Show c.358-938_358-937insGTGTGTATATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POF1B_chrX_85272396_85384665	85372772	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	223	0.0045	21	c.283 others(38): Show c.283-5007_283-5006insATATATATATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	2/16			chrX	TogoVar
POFUT2_chr21_45258935_45292895	45281387	C C	CAATTCAG others(14): Show CAATTCAGCCTAGCTCCCTCCA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0228 a0001c0002t0002g0228	1	434	0.0023	21	c.638 others(36): Show c.638+941_638+961dupTGGAGGGAGCTAGGCTGAATT	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	4/8			chr21	TogoVar

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