Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLPP1_chr5_55419854_55539964	55443192	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	294	0.0034	21	c.492 others(38): Show c.492-1285_492-1284insATATTTTTTTTTTTTTTTTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55443192	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04115.hp2 HG02735.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0055 a0001c0001t0001g0057	2	294	0.0068	21	c.492 others(38): Show c.492-1285_492-1284insATATATTTTTTTTTTTTTTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55443192	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18941.hp2 NA18966.hp2 others(1): Show HG00140.hp1 NA18941.hp2 NA18966.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0108 a0001c0001t0001g0149 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0007g0015	4	294	0.0136	21	c.492 others(38): Show c.492-1285_492-1284insATATATATTTTTTTTTTTTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55443192	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp2 HG02818.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0220 a0001c0001t0001g0189 a0001c0001t0001g0220	2	294	0.0068	21	c.492 others(38): Show c.492-1285_492-1284insATATATATATATTTTTTTTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55443192	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	294	0.0034	21	c.492 others(38): Show c.492-1285_492-1284insATATATATATATATTTTTTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55443192	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	294	0.0034	21	c.492 others(38): Show c.492-1285_492-1284insATATATATATATATATTTTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP3_chr1_56489761_56584563	56538959	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0224	1	336	0.0030	21	c.140 others(38): Show c.140-1848_140-1847insTTTTTTTTTTTTTTTTTTTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101078105	A A	AAGGAGAA others(14): Show AAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG01071.hp2 others(12): Show HG00438.hp1 HG00741.hp1 HG01071.hp2 HG01433.hp2 HG02040.hp2 HG02300.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03834.hp2 HG04199.hp1 NA18612.hp1 NA18942.hp1 NA18950.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0003t0001	a0001c0001t0001g0057 a0001c0001t0001g0125 a0001c0001t0001g0158 others(12): Show a0001c0001t0001g0057 a0001c0001t0001g0125 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0002g0016 a0001c0001t0002g0042 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0123 a0001c0001t0009g0111 a0001c0001t0011g0105 a0001c0001t0017g0112 a0001c0003t0001g0178	15	203	0.0739	21	c.-46 others(40): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101316616	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	203	0.0049	21	c.814 others(36): Show c.814-737_814-736insAAAAAAAAAAAAAAAAAAAAA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLRG1_chr4_154530005_154555400	154533394	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA18522.hp2 HG02922.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0017 a0001c0003t0011g0027 a0001c0003t0011g0017 a0001c0003t0011g0027	2	430	0.0047	21	c.32 others(32): Show c.3290_*3291insATATATATATATATATTTTTT	PLRG1	ENSG00000171566.12	transcript	ENST00000499023.7	protein_coding		1610		chr4	TogoVar
PLS1_chr3_142591393_142718664	142628471	T T	TTTACATT others(14): Show TTTACATTTATTCTCATTTACA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02818.hp2 HG02970.hp1 others(1): Show HG01255.hp1 HG02818.hp2 HG02970.hp1 HG06807.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0002 a0003c0005t0008 others(1): Show a0003c0005t0001 a0003c0005t0002 a0003c0005t0008 a0003c0005t0012	a0003c0005t0001g0129 a0003c0005t0002g0127 a0003c0005t0008g0128 others(1): Show a0003c0005t0001g0129 a0003c0005t0002g0127 a0003c0005t0008g0128 a0003c0005t0012g0133	4	276	0.0145	21	c.-37 others(40): Show c.-37+31963_-37+31964insTACATTTATTCTCATTTACAT	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLS1_chr3_142591393_142718664	142630938	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0127 a0003c0005t0002g0127	1	276	0.0036	21	c.-36 others(40): Show c.-36-33264_-36-33263insCACACACACACACACACACAC	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	1/15			chr3	TogoVar
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	a0001c0001t0001g0084 a0001c0001t0001g0084	1	254	0.0039	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	a0003c0003t0010g0158 a0003c0003t0010g0158	1	380	0.0026	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	a0001c0001t0001g0129 a0001c0001t0001g0129	1	380	0.0026	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 a0001c0001t0001g0269 a0001c0001t0001g0305 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0269 a0001c0001t0001g0305 a0001c0001t0001g0369	4	436	0.0092	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	a0001c0001t0001g0265 a0001c0001t0002g0034 a0001c0001t0002g0037 others(2): Show a0001c0001t0001g0265 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0003g0270 a0001c0001t0004g0124	5	436	0.0115	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	a0001c0001t0012g0298 a0001c0001t0012g0298	1	320	0.0031	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	180	0.0056	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	a0001c0001t0010g0185 a0001c0001t0010g0185	1	346	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 a0019	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 a0019c0052	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(52): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0027 a0001c0001t0032 a0001c0001t0047 a0001c0001t0077 a0001c0001t0103 a0001c0001t0109 a0001c0004t0003 a0001c0004t0011 a0001c0004t0012 a0001c0004t0013 a0001c0004t0033 a0001c0004t0045 a0001c0004t0056 a0001c0004t0097 a0001c0019t0001 a0001c0019t0009 a0002c0002t0008 a0002c0002t0018 a0002c0003t0002 a0002c0003t0004 a0002c0003t0013 a0002c0003t0026 a0002c0003t0071 a0002c0003t0098 a0002c0024t0060 a0002c0025t0001 a0002c0029t0015 a0002c0029t0063 a0002c0045t0052 a0002c0046t0038 a0002c0057t0002 a0002c0062t0080 a0002c0064t0002 a0003c0005t0005 a0003c0010t0070 a0004c0006t0002 a0004c0006t0028 a0004c0006t0040 a0004c0006t0072 a0004c0008t0006 a0004c0008t0030 a0005c0007t0006 a0005c0007t0015 a0005c0007t0037 a0005c0007t0081 a0005c0007t0090 a0005c0030t0096 a0005c0031t0036 a0005c0065t0044 a0019c0052t0002	a0001c0001t0001g0153 a0001c0001t0001g0192 a0001c0001t0005g0102 others(62): Show a0001c0001t0001g0153 a0001c0001t0001g0192 a0001c0001t0005g0102 a0001c0001t0005g0166 a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0001t0007g0088 a0001c0001t0021g0264 a0001c0001t0027g0103 a0001c0001t0032g0236 a0001c0001t0047g0253 a0001c0001t0077g0050 a0001c0001t0103g0274 a0001c0001t0109g0310 a0001c0004t0003g0101 a0001c0004t0011g0007 a0001c0004t0012g0100 a0001c0004t0012g0143 a0001c0004t0013g0245 a0001c0004t0033g0258 a0001c0004t0045g0235 a0001c0004t0056g0003 a0001c0004t0097g0276 a0001c0019t0001g0106 a0001c0019t0009g0268 a0002c0002t0008g0146 a0002c0002t0018g0137 a0002c0003t0002g0071 a0002c0003t0002g0073 a0002c0003t0002g0076 a0002c0003t0004g0141 a0002c0003t0004g0142 a0002c0003t0013g0233 a0002c0003t0026g0077 a0002c0003t0071g0084 a0002c0003t0098g0272 a0002c0024t0060g0030 a0002c0025t0001g0070 a0002c0029t0015g0252 a0002c0029t0063g0067 a0002c0045t0052g0026 a0002c0046t0038g0093 a0002c0057t0002g0157 a0002c0062t0080g0211 a0002c0064t0002g0066 a0003c0005t0005g0148 a0003c0010t0070g0035 a0004c0006t0002g0036 a0004c0006t0002g0037 a0004c0006t0002g0038 a0004c0006t0028g0111 a0004c0006t0040g0094 a0004c0006t0072g0204 a0004c0008t0006g0195 a0004c0008t0030g0250 a0005c0007t0006g0145 a0005c0007t0015g0221 a0005c0007t0037g0144 a0005c0007t0081g0239 a0005c0007t0090g0255 a0005c0030t0096g0291 a0005c0031t0036g0033 a0005c0031t0036g0034 a0005c0065t0044g0231 a0019c0052t0002g0051	65	312	0.2083	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	88	0.0114	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	a0001c0002t0003g0064 a0001c0002t0003g0064	1	88	0.0114	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 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0036 a0001c0001 a0001c0006 a0002c0036	a0001c0001t0013 a0001c0006t0005 a0002c0036t0006 a0001c0001t0013 a0001c0006t0005 a0002c0036t0006	a0001c0001t0013g0033 a0001c0006t0005g0061 a0002c0036t0006g0031 a0001c0001t0013g0033 a0001c0006t0005g0061 a0002c0036t0006g0031	3	88	0.0341	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	88	0.0114	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	a0001c0002t0003g0064 a0001c0002t0003g0064	1	88	0.0114	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	a0001c0003t0001g0021 a0007c0029t0001g0088 a0001c0003t0001g0021 a0007c0029t0001g0088	2	302	0.0066	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	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0011 a0010c0020t0011	a0010c0020t0011g0011 a0010c0020t0011g0011	1	302	0.0033	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	a0002c0009t0002g0099 a0002c0009t0002g0099	1	302	0.0033	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	a0002c0030t0003g0063 a0002c0030t0003g0063	1	298	0.0034	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	a0001c0001t0001g0130 a0001c0001t0001g0130	1	330	0.0030	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 a0001c0001t0001g0003 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0081	5	330	0.0152	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 a0001c0001t0001g0140 a0001c0001t0001g0076 a0001c0001t0001g0140	2	330	0.0061	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 a0001c0001t0001g0003 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0030	6	330	0.0182	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	a0001c0001t0001g0138 a0001c0001t0001g0138	1	330	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 a0001c0001t0001g0003 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128	10	330	0.0303	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	a0001c0001t0002g0218 a0001c0001t0002g0248 a0001c0001t0002g0218 a0001c0001t0002g0248	2	408	0.0049	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	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0002 a0010c0023t0002	a0010c0023t0002g0224 a0010c0023t0002g0224	1	408	0.0025	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	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	408	0.0025	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	a0001 a0008 a0001 a0008	a0001c0002 a0008c0011 a0001c0002 a0008c0011	a0001c0002t0002 a0008c0011t0002 a0001c0002t0002 a0008c0011t0002	a0001c0002t0002g0232 a0008c0011t0002g0246 a0001c0002t0002g0232 a0008c0011t0002g0246	2	408	0.0049	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	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0008 a0001c0002t0002 a0001c0003t0008	a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0003t0008g0225 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0003t0008g0225	3	408	0.0074	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	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0007 a0003c0008t0007	a0003c0008t0007g0324 a0003c0008t0007g0341 a0003c0008t0007g0324 a0003c0008t0007g0341	2	408	0.0049	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	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0336 a0003c0004t0004g0337 a0003c0004t0004g0336 a0003c0004t0004g0337	2	408	0.0049	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	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0051 a0002c0001t0001 a0002c0001t0051	a0002c0001t0001g0140 a0002c0001t0051g0130 a0002c0001t0001g0140 a0002c0001t0051g0130	2	408	0.0049	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	280	0.0036	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 a0001c0002t0001g0124 a0001c0002t0001g0132 others(2): Show a0001c0002t0001g0089 a0001c0002t0001g0124 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0201	5	420	0.0119	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	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0016 a0012c0014t0016	a0012c0014t0016g0011 a0012c0014t0016g0011	1	86	0.0116	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	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0016 a0012c0014t0016	a0012c0014t0016g0011 a0012c0014t0016g0011	1	86	0.0116	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	a0001c0001t0001g0195 a0001c0001t0001g0358 a0001c0001t0001g0195 a0001c0001t0001g0358	2	424	0.0047	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	a0001c0001t0001g0271 a0001c0001t0001g0271	1	424	0.0024	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

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