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
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0250 a0001c0002t0002g0250	1	156	0.0064	40	c.-81 others(49): Show c.-815_-814insTATATATATATATATATATATATATATATATATTTT TTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0003 a0007c0012t0003	a0007c0012t0003g0095 a0007c0012t0003g0095	1	97	0.0103	40	c.195 others(59): Show c.1951-4540_1951-4539insATATATATATATATATATATATATTT TTTTTTTTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATACACATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	345	0.0029	40	c.81+ others(55): Show c.81+7205_81+7206insGTGTATGTGTATATATATATATATATATAT ATATATATAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLG_chr6_160697244_160759097	160748348	A A	AAGAGAAA others(33): Show AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01106.hp2 others(11): Show HG01081.hp1 HG01099.hp1 HG01106.hp2 HG02027.hp1 HG02257.hp1 HG02602.hp2 HG03490.hp2 HG03492.hp1 NA18974.hp1 NA18990.hp1 NA19011.hp1 NA19067.hp1 NA19078.hp1 NA20300.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0008c0016	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0008c0016t0001	a0001c0001t0001g0266 a0001c0002t0001g0058 a0001c0002t0001g0081 others(8): Show a0001c0001t0001g0266 a0001c0002t0001g0058 a0001c0002t0001g0081 a0001c0002t0001g0138 a0001c0003t0001g0007 a0001c0003t0001g0047 a0001c0003t0001g0107 a0001c0003t0001g0146 a0001c0003t0001g0245 a0001c0003t0001g0260 a0008c0016t0001g0020	14	340	0.0412	40	c.212 others(59): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0289 a0001c0001t0020g0289	1	193	0.0052	40	c.212 others(59): Show c.2126-3738_2126-3737insGAGAGAAAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01099.hp2 others(39): Show HG00408.hp1 HG00558.hp1 HG01099.hp2 HG01168.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02080.hp1 HG02300.hp1 HG02683.hp2 HG02895.hp2 HG03239.hp1 HG03453.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 NA18955.hp2 NA18956.hp2 NA18971.hp1 NA18974.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18991.hp2 NA19000.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19067.hp2 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0025 others(1): Show a0001c0001 a0001c0002 a0001c0025 a0010c0026	a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 a0001c0002t0001 a0001c0002t0006 a0001c0025t0001 a0010c0026t0001	a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0039 others(35): Show a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0257 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0333 a0001c0001t0006g0181 a0001c0001t0006g0247 a0001c0001t0018g0256 a0001c0002t0001g0003 a0001c0002t0001g0120 a0001c0002t0001g0127 a0001c0002t0001g0160 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0006g0051 a0001c0025t0001g0284 a0010c0026t0001g0064	42	234	0.1795	40	c.212 others(59): Show c.2126-3738_2126-3737insGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	193	0.0052	40	c.212 others(59): Show c.2126-3742_2126-3741insGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18940.hp1 NA18975.hp1 HG02559.hp2 NA18940.hp1 NA18975.hp1	a0001 a0001	a0001c0008 a0001c0011 a0001c0008 a0001c0011	a0001c0008t0001 a0001c0011t0001 a0001c0008t0001 a0001c0011t0001	a0001c0008t0001g0218 a0001c0011t0001g0224 a0001c0011t0001g0225 a0001c0008t0001g0218 a0001c0011t0001g0224 a0001c0011t0001g0225	3	195	0.0154	40	c.212 others(59): Show c.2126-3742_2126-3741insGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0341 a0001c0013t0001g0341	1	193	0.0052	40	c.212 others(59): Show c.2126-3746_2126-3745insGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0023 a0002c0007t0023	a0002c0007t0023g0048 a0002c0007t0023g0048	1	193	0.0052	40	c.212 others(59): Show c.2126-3746_2126-3745insGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748354	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	346	0.0029	40	c.212 others(59): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLIN1_chr15_89659367_89684367	89663771	T T	TCCAGGGC others(33): Show TCCAGGGCCACAGAGTCAGTGCCAGGGCCACAGAGTCAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	392	0.0026	40	c.18 others(51): Show c.1811_*1812insCGCTGACTCTGTGGCCCTGGCACTGACTCTGTGG CCCTGG	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		595		chr15	TogoVar
PLIN1_chr15_89659367_89684367	89663910	C C	CGCCAGGG others(33): Show CGCCAGGGCCACAGAGTCAGCTCCAGGGCCACAGAGTCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01069.hp1 others(13): Show HG00099.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG02074.hp2 HG02135.hp1 HG02165.hp2 HG03239.hp2 HG03942.hp2 NA18955.hp1 NA18993.hp1 NA18993.hp2 NA19065.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0017 others(9): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0035 a0001c0001t0002g0059 a0001c0001t0002g0171 a0001c0001t0002g0182 a0001c0001t0002g0232 a0001c0001t0002g0261 a0001c0002t0002g0048 a0001c0002t0002g0154 a0001c0002t0002g0227	16	311	0.0514	40	c.16 others(51): Show c.1672_*1673insACTGACTCTGTGGCCCTGGAGCTGACTCTGTGGC CCTGGC	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		456		chr15	TogoVar
PLIN1_chr15_89659367_89684367	89663911	G G	GCCAGGGC others(33): Show GCCAGGGCCACAGAGTCAGCTCCAGGGCCACAGAGTCAGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02698.hp1 HG02683.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0178 a0001c0004t0002g0289 a0001c0001t0002g0178 a0001c0004t0002g0289	2	423	0.0047	40	c.16 others(51): Show c.1671_*1672insAACTGACTCTGTGGCCCTGGAGCTGACTCTGTGG CCCTGG	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		455		chr15	TogoVar
PLIN1_chr15_89659367_89684367	89663991	G G	GCCAGGGC others(33): Show GCCAGGGCCACAGAGTCAGTGCCAGGGCCACAGAGTCAGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp2 HG03516.hp2 HG02970.hp1 HG02970.hp2 HG03516.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0006 a0006c0011t0006 a0001c0001t0006 a0006c0011t0006	a0001c0001t0006g0092 a0001c0001t0006g0093 a0006c0011t0006g0200 a0001c0001t0006g0092 a0001c0001t0006g0093 a0006c0011t0006g0200	3	196	0.0153	40	c.15 others(51): Show c.1591_*1592insAACTGACTCTGTGGCCCTGGCACTGACTCTGTGG CCCTGG	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		375		chr15	TogoVar
PLIN1_chr15_89659367_89684367	89664312	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	209	0.0048	40	c.12 others(51): Show c.1270_*1271insATATATATATATATATATATATATATATATATAT ATATAT	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		54		chr15	TogoVar
PLK3_chr1_44795377_44810990	44795746	A A	AATATATA others(33): Show AATATATAAATATATATAAATATATATAAATATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	40	c.-47 others(51): Show c.-4718_-4717insATATATAAATATATATAAATATATATAAATATAT ATAAAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4630		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795754	A A	AATATATA others(33): Show AATATATATAAATATATATAAATATATAAATATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(33): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00639.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01433.hp2 HG01516.hp2 HG01981.hp2 HG01993.hp2 HG02056.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG04199.hp1 NA18981.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0003c0010	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0008t0001 a0003c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0002t0001g0029 a0001c0005t0001g0001 a0001c0008t0001g0003 a0003c0010t0001g0001	36	367	0.0981	40	c.-47 others(51): Show c.-4710_-4709insATATATATAAATATATATAAATATATAAATATAT ATAAAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4622		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 NA18977.hp2 HG02647.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0002t0001g0007 a0001c0001t0001g0005 a0001c0002t0001g0007	2	126	0.0159	40	c.-24 others(51): Show c.-2481_-2480insAAAAAAAAAAAAAAATATATATATATATATATAT ATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	125	0.0080	40	c.-24 others(51): Show c.-2481_-2480insAAAAAAAAAAAAATATATATATATATATATATAT ATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	125	0.0080	40	c.-24 others(51): Show c.-2481_-2480insAAAAAAAAATATATATATATATATATATATATAT ATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLOD1_chr1_11929717_11980537	11967595	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0258 a0002c0003t0001g0258	1	274	0.0036	40	c.175 others(57): Show c.1755+505_1755+506insATATATATATATATATATATATATATAT ATATATATATAT	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLOD2_chr3_146064440_146166184	146096413	G G	GGCCGCCA others(33): Show GGCCGCCATCCCATCTAGGAAGCGAGGAGCGCCTCTTCCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0011 a0005c0005t0011	a0005c0005t0011g0351 a0005c0005t0011g0351	1	363	0.0028	40	c.778 others(57): Show c.778-4552_778-4513dupGGGGAAGAGGCGCTCCTCGCTTCCTAGA TGGGATGGCGGC	PLOD2	ENSG00000152952.14	transcript	ENST00000282903.10	protein_coding	7/19			chr3	TogoVar
PLPP3_chr1_56489761_56584563	56518715	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0235 a0001c0003t0004g0235	1	163	0.0061	40	c.633 others(57): Show c.633+5107_633+5108insTATATATATATATATATATATATATATA TATATATATATA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	4/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557008	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	259	0.0039	40	c.140 others(59): Show c.140-19897_140-19896insCTCTCTCTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557048	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19058.hp2 NA18954.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0290 a0001c0001t0002g0291	2	183	0.0109	40	c.140 others(59): Show c.140-19937_140-19936insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557052	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19066.hp2 NA19065.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0283 a0001c0002t0002g0176 a0001c0001t0002g0283 a0001c0002t0002g0176	2	160	0.0125	40	c.140 others(59): Show c.140-19941_140-19940insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLVAP_chr19_17346455_17382342	17349157	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02257.hp1 NA18906.hp2 HG02055.hp1 HG02257.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0363 a0001c0001t0002g0098 a0001c0001t0002g0113 a0001c0001t0001g0363 a0001c0001t0002g0098 a0001c0001t0002g0113	3	421	0.0071	40	c.32 others(51): Show c.3204_*3205insGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA AGAAAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2297		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349173	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02451.hp2 HG01109.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0403 a0001c0001t0002g0022 a0001c0001t0001g0403 a0001c0001t0002g0022	2	432	0.0046	40	c.31 others(51): Show c.3188_*3189insGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA AGAAAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2281		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382272	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0353 a0001c0001t0003g0353	1	405	0.0025	40	c.-49 others(51): Show c.-4985_-4984insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4931		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39128165	A A	ATATATAT others(33): Show ATATATATGTGTGTATATATATGTATATATATGTGTATATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(58): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02135.hp1 HG02293.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp1 HG03195.hp1 HG03239.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp2 NA18956.hp1 NA18970.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA19000.hp1 NA19009.hp1 NA19067.hp1 NA19088.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0005c0013 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0002t0002 a0001c0002t0005 a0001c0002t0020 a0001c0002t0023 a0001c0002t0026 a0001c0002t0030 a0001c0002t0033 a0001c0002t0037 a0001c0002t0038 a0001c0010t0002 a0002c0003t0006 a0002c0003t0008 a0002c0003t0040 a0002c0003t0047 a0005c0013t0027 a0006c0009t0002	a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0166 others(58): Show a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0003g0130 a0001c0001t0003g0170 a0001c0001t0003g0181 a0001c0001t0004g0180 a0001c0001t0004g0239 a0001c0001t0006g0160 a0001c0001t0010g0118 a0001c0001t0010g0177 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0100 a0001c0002t0002g0151 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0230 a0001c0002t0005g0213 a0001c0002t0005g0214 a0001c0002t0005g0216 a0001c0002t0005g0217 a0001c0002t0005g0219 a0001c0002t0020g0224 a0001c0002t0020g0225 a0001c0002t0020g0227 a0001c0002t0023g0304 a0001c0002t0026g0199 a0001c0002t0030g0137 a0001c0002t0033g0006 a0001c0002t0037g0129 a0001c0002t0038g0007 a0001c0010t0002g0171 a0002c0003t0006g0112 a0002c0003t0008g0106 a0002c0003t0008g0113 a0002c0003t0008g0114 a0002c0003t0008g0115 a0002c0003t0040g0107 a0002c0003t0047g0020 a0005c0013t0027g0158 a0006c0009t0002g0183	61	166	0.3675	40	c.255 others(59): Show c.255+11488_255+11489insCATATACACATATATATACATATATA TACACACATATATA	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39129688	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp1 HG02074.hp1 others(8): Show HG01123.hp2 HG01175.hp1 HG02074.hp1 HG02135.hp1 HG03195.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA20805.hp1 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0057 a0001c0002t0002 a0006c0009t0002	a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0228 others(8): Show a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0228 a0001c0001t0003g0130 a0001c0001t0003g0169 a0001c0001t0006g0027 a0001c0001t0057g0282 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0002t0002g0179 a0006c0009t0002g0183	11	256	0.0430	40	c.255 others(57): Show c.255+9965_255+9966insCTTTCTTTCTTTCCTTCTTTCTTTCTTT CTTTCTTTCTTT	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39129711	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG02056.hp1 others(26): Show HG01243.hp2 HG01261.hp1 HG02056.hp1 HG02109.hp2 HG02135.hp2 HG02257.hp1 HG03139.hp1 HG03540.hp2 HG03688.hp2 HG03942.hp1 HG06807.hp1 NA18943.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19090.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0007c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0052 a0001c0002t0009 a0001c0002t0039 a0001c0004t0007 a0001c0004t0013 a0001c0004t0028 a0002c0003t0006 a0002c0003t0015 a0007c0008t0008	a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0273 others(26): Show a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0003g0099 a0001c0001t0003g0247 a0001c0001t0004g0116 a0001c0001t0004g0155 a0001c0001t0004g0194 a0001c0001t0010g0136 a0001c0001t0011g0292 a0001c0001t0011g0296 a0001c0001t0011g0301 a0001c0001t0012g0294 a0001c0001t0012g0297 a0001c0001t0012g0299 a0001c0001t0016g0091 a0001c0001t0019g0013 a0001c0001t0019g0015 a0001c0001t0052g0081 a0001c0002t0009g0090 a0001c0002t0039g0190 a0001c0004t0007g0010 a0001c0004t0013g0018 a0001c0004t0028g0307 a0002c0003t0006g0017 a0002c0003t0015g0305 a0002c0003t0015g0310 a0002c0003t0015g0317 a0007c0008t0008g0064	29	129	0.2248	40	c.255 others(57): Show c.255+9942_255+9943insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	20238687	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATACACACATATATGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG03130.hp1 others(2): Show HG01891.hp2 HG02486.hp2 HG03130.hp1 HG03688.hp1 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0032 a0002c0002t0049 others(2): Show a0002c0002t0005 a0002c0002t0032 a0002c0002t0049 a0002c0002t0063 a0002c0002t0126	a0002c0002t0005g0113 a0002c0002t0032g0004 a0002c0002t0049g0069 others(2): Show a0002c0002t0005g0113 a0002c0002t0032g0004 a0002c0002t0049g0069 a0002c0002t0063g0163 a0002c0002t0126g0155	5	138	0.0362	40	c.131 others(59): Show c.1313-6652_1313-6651insTATATATATATATATATATACACACA TATATGTGTATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(33): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0100 a0001c0001t0064g0100	1	57	0.0175	40	c.137 others(57): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132151409	A A	AGGAGGAG others(33): Show AGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG02257.hp1 others(1): Show HG00099.hp1 HG00544.hp1 HG02257.hp1 HG03688.hp2	a0001 a0001	a0001c0007 a0001c0009 a0001c0013 others(1): Show a0001c0007 a0001c0009 a0001c0013 a0001c0029	a0001c0007t0001 a0001c0009t0001 a0001c0013t0001 others(1): Show a0001c0007t0001 a0001c0009t0001 a0001c0013t0001 a0001c0029t0001	a0001c0007t0001g0022 a0001c0009t0001g0010 a0001c0013t0001g0018 others(1): Show a0001c0007t0001g0022 a0001c0009t0001g0010 a0001c0013t0001g0018 a0001c0029t0001g0016	4	41	0.0976	40	c.466 others(59): Show c.4661-2764_4661-2763insCCTCCTCCTCCTCCTTCCTCCTCCTC CTCCTTCCTCCTCC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132327049	A A	AGAAGAAA others(33): Show AGAAGAAAGGAGGGAGGGAGAGAAGAAAGGAGGGAGGGTAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00738.hp2 others(9): Show HG00099.hp1 HG00544.hp2 HG00738.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG02257.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG03654.hp1 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0014 a0001c0018 a0001c0019 a0002c0016	a0001c0001t0003 a0001c0002t0024 a0001c0003t0002 others(8): Show a0001c0001t0003 a0001c0002t0024 a0001c0003t0002 a0001c0003t0018 a0001c0004t0001 a0001c0009t0001 a0001c0010t0011 a0001c0014t0008 a0001c0018t0020 a0001c0019t0006 a0002c0016t0006	a0001c0001t0003g0071 a0001c0002t0024g0060 a0001c0003t0002g0066 others(9): Show a0001c0001t0003g0071 a0001c0002t0024g0060 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0018g0015 a0001c0004t0001g0050 a0001c0009t0001g0010 a0001c0010t0011g0077 a0001c0014t0008g0034 a0001c0018t0020g0036 a0001c0019t0006g0075 a0002c0016t0006g0074	12	85	0.1412	40	c.137 others(61): Show c.1372-28867_1372-28828dupCTACCCTCCCTCCTTTCTTCTCTC CCTCCCTCCTTTCTTC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132562933	T T	TCCTCCTC others(33): Show TCCTCCTCTCCCTCCTCCTCCTCTCCCTCCTCCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0055 a0001c0002t0003g0055	1	86	0.0116	40	c.-87 others(59): Show c.-87+13449_-87+13488dupGGAGAGGAGGAGGAGGGAGAGGAGGA GGAGGGAGAGGAGG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50285458	C C	CCCCTCCC others(33): Show CCCCTCCCTCCGCACCTGAGCCTGCCTGTCACCGGCCGGCA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18944.hp2 HG02155.hp1 NA18944.hp2	a0002 a0004 a0002 a0004	a0002c0028 a0004c0021 a0002c0028 a0004c0021	a0002c0028t0001 a0004c0021t0001 a0002c0028t0001 a0004c0021t0001	a0002c0028t0001g0225 a0004c0021t0001g0270 a0002c0028t0001g0225 a0004c0021t0001g0270	2	298	0.0067	40	c.208 others(57): Show c.2088+341_2088+342insTGCCGGCCGGTGACAGGCAGGCTCAGGT GCGGAGGGAGGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50285492	G G	GGCCGGCA others(33): Show GGCCGGCACCCCTCCCTCCGCACCTGAGCCTGCCTGTCACA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02559.hp1 HG01071.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0049 a0001c0003 a0001c0049	a0001c0003t0001 a0001c0049t0001 a0001c0003t0001 a0001c0049t0001	a0001c0003t0001g0198 a0001c0049t0001g0158 a0001c0003t0001g0198 a0001c0049t0001g0158	2	293	0.0068	40	c.208 others(57): Show c.2088+307_2088+308insTGTGACAGGCAGGCTCAGGTGCGGAGGG AGGGGTGCCGGC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	11/36			chr22	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18982.hp1 NA18973.hp1 NA18982.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0169 a0002c0001t0002g0173 a0002c0001t0002g0169 a0002c0001t0002g0173	2	218	0.0092	40	c.-33 others(51): Show c.-3365_-3364insATATATATATATATATATATATATATATATATAT ATATAT	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3305		chr1	TogoVar
PM20D1_chr1_205823025_205855132	205853447	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0111 a0009c0018t0001g0111	1	400	0.0025	40	c.-33 others(51): Show c.-3376_-3375insCATATATATATATATATATATATATATATATATA TATATA	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3316		chr1	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(33): Show GGGTGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01517.hp1 HG02965.hp2 others(9): Show HG00544.hp1 HG01517.hp1 HG02965.hp2 HG03834.hp2 NA18961.hp1 NA18966.hp2 NA18981.hp2 NA18983.hp2 NA18999.hp2 NA19007.hp2 NA19065.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0085	12	211	0.0569	40	c.-45 others(51): Show c.-4531_-4530insGCCTCCCCCACCCCCCCACCGCCTCCCCCACCCC CCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(33): Show GGGTGGGGGGGTGGGGGGGCGGTGGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	200	0.0050	40	c.-45 others(51): Show c.-4531_-4530insGCCTCCCCCACCCCCCCCACCGCCCCCCCACCCC CCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594338	T T	TGGGGGGG others(33): Show TGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGCGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02818.hp1 NA19009.hp1 HG02109.hp2 HG02818.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0001g0087	3	245	0.0122	40	c.-45 others(51): Show c.-4534_-4533insCACCGCCTCCCCCACCCCCCCACCGCCCCCCCAC CCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4499		chr22	TogoVar
PMS1_chr2_189779450_189882629	189864657	G G	GAAAAAAA others(33): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	186	0.0054	40	c.234 others(57): Show c.2342+460_2342+461insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAATATA others(33): Show AAAATATACATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03688.hp2 HG03492.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0044 a0001c0001t0001 a0001c0003t0044	a0001c0001t0001g0325 a0001c0003t0044g0381 a0001c0001t0001g0325 a0001c0003t0044g0381	2	46	0.0435	40	c.-95 others(49): Show c.-956_-955insATATATATATATATATATATATATATATATATGTAT ATTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AATATACA others(33): Show AATATACATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0345 a0001c0003t0004g0345	1	45	0.0222	40	c.-95 others(49): Show c.-956_-955insATATATATATATATATATATATATATATATATATGT ATAT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNKD_chr2_218265519_218351793	218315057	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	113	0.0088	40	c.237 others(59): Show c.237-24723_237-24722insTCTTTCTTTCTTTCTTTCTTTCTTCC TTCCTTCCTTCCTT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218315057	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19012.hp2 HG01496.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0175 a0001c0001t0006g0244 a0001c0001t0002g0175 a0001c0001t0006g0244	2	114	0.0175	40	c.237 others(59): Show c.237-24723_237-24722insTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTTCCTTCCTT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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