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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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
PRXL2B_chr1_2581777_2596468	2595805	TGGTCCTG others(33): Show TGGTCCTGTCTGCGCCTCCCGGGGCTGCCTTCTCCCCGTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01106.hp1 HG01123.hp2 others(11): Show HG00140.hp2 HG01106.hp1 HG01123.hp2 HG01884.hp1 HG02622.hp1 HG02630.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA18998.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0003t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0007g0004 a0001c0001t0008g0008 a0001c0003t0005g0016	14	413	0.0339	-40	c.63 others(51): Show c.6379_*6418delGGTCCTGTCTGCGCCTCCCGGGGCTGCCTTCTCC CCGTGG	PRXL2B	ENSG00000157870.17	transcript	ENST00000419916.8	protein_coding		4338		chr1	TogoVar
PSEN1_chr14_73131507_73228691	73184791	CGCTCCTC others(33): Show CGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0293 a0001c0001t0028g0293	1	378	0.0027	-40	c.481 others(57): Show c.481-2009_481-1970delCCAGACGGGGCGGCTGCCGGGCGGAGGG GCTCCTCACTTC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMC2_chr7_103342643_103374395	103373033	GCTTAGTT others(33): Show GCTTAGTTCACATAGAATAACCAACTAACAAACGGAGAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	382	0.0026	-40	c.49 others(51): Show c.4980_*5019delCTTAGTTCACATAGAATAACCAACTAACAAACGG AGAAGA	PSMC2	ENSG00000161057.13	transcript	ENST00000292644.5	protein_coding		3639		chr7	TogoVar
PSMD1_chr2_231051867_231177827	231165034	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	364	0.0028	-40	c.248 others(57): Show c.2482-148_2482-109delATATATATATATATATATATATATATAT ATATATATATAT	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSPC1_chr13_19697500_19787945	19779028	ATCTGGGA others(33): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0037 a0001c0001t0011g0037	1	258	0.0039	-40	c.372 others(57): Show c.372+3318_372+3357delCGGGGTCTCGGCCGGGCAGAGGCGCTCC TCACATCCCAGA	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19779190	AGAAGTGA others(33): Show AGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02165.hp2 HG02698.hp2 others(1): Show HG02109.hp1 HG02165.hp2 HG02698.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 others(1): Show a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0109	4	258	0.0155	-40	c.372 others(57): Show c.372+3156_372+3195delCCAGATGGGGTGGCTGCCGGGCGGAGAG GCTCCTCACTTC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSRC1_chr1_109274556_109288145	109274588	CCTCAGAA others(33): Show CCTCAGAACGGTGAGGGGCCAGGGCAAAGGGTGTGCCTCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	438	0.0023	-40	c.55 others(51): Show c.5525_*5564delACGAGGCACACCCTTTGCCCTGGCCCCTCACCGT TCTGAG	PSRC1	ENSG00000134222.16	transcript	ENST00000369909.7	protein_coding		4967		chr1	TogoVar
PTBP2_chr1_96716784_96820049	96746893	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0340 a0001c0002t0001g0340	1	364	0.0028	-40	c.40- others(55): Show c.40-4528_40-4489delCCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96762891	CTCCCAGA others(33): Show CTCCCAGACGGGGTCGCGGCCGGGTAGAGGCGCTCCTCACA	C C	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	364	0.0028	-40	c.116 others(57): Show c.116-6799_116-6760delTCGCGGCCGGGTAGAGGCGCTCCTCACA TCCCAGACGGGG	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112277906	CATAACAT others(33): Show CATAACATAACATAACATAACATAACATAACATAACATAAT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03579.hp2 HG02897.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0300 a0001c0001t0012g0001 a0001c0001t0001g0300 a0001c0001t0012g0001	2	342	0.0059	-40	c.35- others(55): Show c.35-1933_35-1894delATTATGTTATGTTATGTTATGTTATGTTAT GTTATGTTAT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	2/13			chr9	TogoVar
PTCHD1_chrX_23329849_23409374	23342280	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02257.hp2 HG02280.hp1 others(5): Show HG01070.hp1 HG02257.hp2 HG02280.hp1 HG02630.hp2 HG02723.hp1 HG02976.hp2 HG03041.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0045 a0001c0001t0094 others(4): Show a0001c0001t0010 a0001c0001t0045 a0001c0001t0094 a0001c0001t0129 a0001c0001t0142 a0001c0001t0156 a0001c0001t0157	a0001c0001t0010g0008 a0001c0001t0010g0136 a0001c0001t0045g0135 others(5): Show a0001c0001t0010g0008 a0001c0001t0010g0136 a0001c0001t0045g0135 a0001c0001t0094g0273 a0001c0001t0129g0280 a0001c0001t0142g0138 a0001c0001t0156g0137 a0001c0001t0157g0020	8	297	0.0269	-40	c.351 others(57): Show c.351+7056_351+7095delATATATATATATATATATATATATATAT ATTTTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342282	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02630.hp1 others(7): Show HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02818.hp1 HG02922.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0088 a0001c0001t0100 others(6): Show a0001c0001t0008 a0001c0001t0088 a0001c0001t0100 a0001c0001t0128 a0001c0001t0130 a0001c0001t0132 a0001c0001t0162 a0001c0001t0167 a0001c0001t0168	a0001c0001t0008g0123 a0001c0001t0008g0128 a0001c0001t0088g0126 others(7): Show a0001c0001t0008g0123 a0001c0001t0008g0128 a0001c0001t0088g0126 a0001c0001t0100g0272 a0001c0001t0128g0130 a0001c0001t0130g0127 a0001c0001t0132g0131 a0001c0001t0162g0129 a0001c0001t0167g0125 a0001c0001t0168g0124	10	297	0.0337	-40	c.351 others(57): Show c.351+7058_351+7097delATATATATATATATATATATATATATAT TTTTTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTDSS2_chr11_445279_496399	459057	CACACTCC others(33): Show CACACTCCGGTGAATGTAGGACCTGGGTTAGACGTGAGGGG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	346	0.0029	-40	c.183 others(57): Show c.183-1118_183-1079delAATGTAGGACCTGGGTTAGACGTGAGGG GACACTCCGGTG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459074	AGGACCTG others(33): Show AGGACCTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTC	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	346	0.0029	-40	c.183 others(57): Show c.183-1091_183-1052delGGACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459097	GACACTCC others(33): Show GACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGAC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03927.hp2 NA18522.hp1 HG02486.hp1 HG03927.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0261 a0001c0001t0002g0038 a0001c0001t0015g0213 a0001c0001t0001g0261 a0001c0001t0002g0038 a0001c0001t0015g0213	3	346	0.0087	-40	c.183 others(55): Show c.183-873_183-834delCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGT	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	485690	TGTGTGCT others(33): Show TGTGTGCTCACTGCGCAGGCGAGTGTAAACTGCACGGGCGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01192.hp1 HG01361.hp2 others(3): Show HG00140.hp1 HG01192.hp1 HG01361.hp2 HG01433.hp1 HG03654.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0210 a0001c0001t0001g0218 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0247 a0001c0001t0001g0253	6	346	0.0173	-40	c.436 others(57): Show c.436-1226_436-1187delTGTAAACTGCACGGGCGCGTGTGCTCAC TGCGCAGGCGAG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTGER3_chr1_70965782_71052816	70981312	CTTCCTTT others(33): Show CTTCCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	372	0.0027	-40	c.107 others(59): Show c.1078-6964_1078-6925delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAGAAAGGAA	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	2/3			chr1	TogoVar
PTGER3_chr1_70965782_71052816	70981368	TTTCTTTC others(33): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0011 a0006c0006t0001g0011	1	372	0.0027	-40	c.107 others(59): Show c.1078-7020_1078-6981delGGAAGGAAGGAAGGAAAGAAAGAAAG AAAGAAAGAAAGAA	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	2/3			chr1	TogoVar
PTGER4_chr5_40674915_40698735	40697226	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG03704.hp2 HG03834.hp2 others(5): Show HG01099.hp1 HG03704.hp2 HG03834.hp2 HG04184.hp2 HG06807.hp1 NA18959.hp1 NA19002.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0022 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0065 a0001c0001t0001g0074	8	406	0.0197	-40	c.48 others(51): Show c.4849_*4888delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding		3492		chr5	TogoVar
PTGES2_chr9_128115693_128132729	128118837	GCAGGGAC others(33): Show GCAGGGACAGAGGGATGCAGGGATGGAGGGATGGAAGGGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG02109.hp2 others(10): Show HG01109.hp1 HG01109.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02965.hp1 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0034 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0082	13	366	0.0355	-40	c.22 others(51): Show c.2268_*2307delTACCCTTCCATCCCTCCATCCCTGCATCCCTCTG TCCCTG	PTGES2	ENSG00000148334.16	transcript	ENST00000338961.11	protein_coding		1855		chr9	TogoVar
PTGES3L_chr17_42963103_42985080	42967175	TATATAAT others(33): Show TATATAATATAATATATAAAATATATATTATATAATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	336	0.0030	-40	c.19 others(51): Show c.1933_*1972delTATATATTATATAATATATATTTTATATATTATA TTATAT	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		927		chr17	TogoVar
PTGES3L_chr17_42963103_42985080	42972882	CCTCTTCC others(33): Show CCTCTTCCCGGCCGCCATCACATCTAGGAAGTGATGAGCGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	336	0.0030	-40	c.289 others(57): Show c.289-1226_289-1187delACGCTCATCACTTCCTAGATGTGATGGC GGCCGGGAAGAG	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding	4/6			chr17	TogoVar
PTGES3L_chr17_42963103_42985080	42972987	TGTGAGGA others(33): Show TGTGAGGAGCGCCTCTGCCCGGCCGCGACCCCGTCTGGGAG	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	336	0.0030	-40	c.289 others(57): Show c.289-1331_289-1292delCTCCCAGACGGGGTCGCGGCCGGGCAGA GGCGCTCCTCAC	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding	4/6			chr17	TogoVar
PTGS1_chr9_122366024_122400703	122391347	CTATATAT others(33): Show CTATATATATACATATATATATATACATATATATATATACA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01106.hp2 others(13): Show HG00438.hp1 HG00597.hp1 HG01106.hp2 HG01358.hp1 HG01993.hp2 HG02074.hp1 HG02165.hp2 HG04204.hp2 NA18945.hp2 NA18949.hp1 NA18969.hp1 NA18982.hp2 NA18993.hp2 NA19003.hp1 NA19005.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0003 a0001c0001t0024 a0001c0003t0003 others(1): Show a0001c0001t0003 a0001c0001t0024 a0001c0003t0003 a0002c0004t0003	a0001c0001t0003g0006 a0001c0001t0003g0099 a0001c0001t0003g0100 others(10): Show a0001c0001t0003g0006 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0171 a0001c0001t0024g0102 a0001c0003t0003g0138 a0002c0004t0003g0078 a0002c0004t0003g0081 a0002c0004t0003g0082 a0002c0004t0003g0083 a0002c0004t0003g0084 a0002c0004t0003g0088	16	332	0.0482	-40	c.144 others(57): Show c.1445-819_1445-780delTACATATATATATATACATATATATATA CATATATATATA	PTGS1	ENSG00000095303.17	transcript	ENST00000362012.7	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTK2_chr8_140652900_141006282	140747718	GAGGAGGG others(33): Show GAGGAGGGGGAGGAAGGAAGTAGGAGGAGGGGGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	290	0.0035	-40	c.154 others(57): Show c.1541-898_1541-859delTCCTTCCTCCCCCTCCTCCTACTTCCTT CCTCCCCCTCCT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	20/35			chr8	TogoVar
PTP4A2_chr1_31901421_31943368	31908111	AAAATATA others(33): Show AAAATATATATATATATATATATATTATATTATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0146 a0001c0001t0054g0146	1	354	0.0028	-40	c.70 others(49): Show c.701_*740delATATATATATAATATAATATATATATATATATATAT ATTT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	701		chr1	TogoVar
PTP4A2_chr1_31901421_31943368	31908113	AATATATA others(33): Show AATATATATATATATATATATATTATATTATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01346.hp2 others(4): Show HG00140.hp1 HG01069.hp1 HG01346.hp2 HG02083.hp1 HG03239.hp2 NA18960.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0046 a0001c0001t0082 others(1): Show a0001c0001t0021 a0001c0001t0046 a0001c0001t0082 a0001c0001t0139	a0001c0001t0021g0234 a0001c0001t0021g0242 a0001c0001t0021g0315 others(4): Show a0001c0001t0021g0234 a0001c0001t0021g0242 a0001c0001t0021g0315 a0001c0001t0046g0214 a0001c0001t0046g0302 a0001c0001t0082g0244 a0001c0001t0139g0247	7	354	0.0198	-40	c.69 others(49): Show c.699_*738delATATATATATATAATATAATATATATATATATATAT ATAT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	699		chr1	TogoVar
PTPN2_chr18_12787152_12889237	12870345	ATATATGT others(33): Show ATATATGTGTATATATATGTGTATATATACATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01069.hp2 others(12): Show HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp1 HG01255.hp2 HG01433.hp1 HG01515.hp1 HG02602.hp1 HG02735.hp1 HG03239.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0001 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0265 a0001c0001t0005g0256 a0001c0001t0005g0257 others(12): Show a0001c0001t0001g0265 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0266 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0334 a0001c0001t0015g0332	15	370	0.0405	-40	c.70- others(57): Show c.70-11131_70-11092delCGTATATATATGTATATATACACATATA TATACACATATA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12873900	GCCCCGTC others(33): Show GCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCCGGTCGCGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02451.hp2 others(6): Show HG01167.hp1 HG01169.hp2 HG02451.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03225.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0015 a0002c0002t0001 a0001c0001t0010 a0001c0001t0015 a0002c0002t0001	a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 others(6): Show a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0015g0106 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102	9	370	0.0243	-40	c.69+ others(57): Show c.69+10133_69+10172delTCGCGACCGGGCAGAGGCGCTCCTCACA TCCCAGACGGGG	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN4_chr2_119754922_119989899	119988679	CTCTAACA others(33): Show CTCTAACAAATAAGGAAATTGAAGTAGCAATTGCTAACAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	252	0.0040	-40	c.11 others(53): Show c.11610_*11649delTCTAACAAATAAGGAAATTGAAGTAGCAATTG CTAACAAA	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding		3781		chr2	TogoVar
PTPRA_chr20_2868481_3043669	2919645	TCTTACTC others(33): Show TCTTACTCTCAGCTGGGGGAGGCCATAAACAGTTAAAGTAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00544.hp2 others(83): Show HG00140.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01516.hp1 HG01934.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03704.hp1 HG03927.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18973.hp2 NA18977.hp1 NA18982.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA19004.hp1 NA19006.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19080.hp1 NA19081.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0002c0002t0009 a0001c0003t0001 a0002c0002t0001 a0002c0002t0009	a0001c0003t0001g0311 a0002c0002t0001g0004 a0002c0002t0001g0005 others(83): Show a0001c0003t0001g0311 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0205 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0009g0280	86	356	0.2416	-40	c.-12 others(59): Show c.-128-3524_-128-3485delTAGCTTACTCTCAGCTGGGGGAGGCC ATAAACAGTTAAAG	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRD_chr9_8309246_10618002	9286873	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19240.hp1 HG03579.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0016 a0001c0001 a0004c0016	a0001c0001t0014 a0004c0016t0020 a0001c0001t0014 a0004c0016t0020	a0001c0001t0014g0008 a0004c0016t0020g0011 a0001c0001t0014g0008 a0004c0016t0020g0011	2	34	0.0588	-40	c.-20 others(63): Show c.-202-103550_-202-103511delATATATATATATATATATATAT ATATATATATATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61792668	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG02965.hp1 others(4): Show HG02647.hp2 HG02809.hp2 HG02965.hp1 HG02976.hp1 HG03453.hp1 HG04199.hp1 NA18998.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0008 others(2): Show a0001c0001 a0001c0005 a0001c0008 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0008t0005 a0002c0003t0002 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0002g0065 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0002g0065 a0001c0005t0001g0014 a0001c0008t0005g0030 a0002c0003t0002g0052 a0003c0004t0001g0070	7	94	0.0745	-40	c.190 others(59): Show c.190+43726_190+43765delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRK_chr6_127963785_128525599	128435090	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGCAGGAAGGCAGGCAGGAAGGC	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	53	0.0189	-40	c.101 others(59): Show c.101-37442_101-37403delGCCTTCCTGCCTGCCTTCCTGCCTTC CTTCCTTCCTTCCT	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	1/29			chr6	TogoVar
PTPRR_chr12_70633079_70925738	70733429	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAGAAAGAAAAAAAGAAAAATTATGG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	204	0.0049	-40	c.100 others(61): Show c.1007+12349_1007+12388delCCATAATTTTTCTTTTTTTCTTTC TTTTTTTTTTTTTTTT	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	6/13			chr12	TogoVar
PTPRT_chr20_42067756_43194906	42276496	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0036 a0001c0002t0006g0036	1	62	0.0161	-40	c.217 others(59): Show c.2176+5953_2176+5992delATATATATATATATATATATATATAT ATATATATATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	13/30			chr20	TogoVar
PTTG1IP_chr21_44844598_44878690	44854435	TCCATGAC others(33): Show TCCATGACGCCACACAACCACAAACCCAGCGCGGGAGACGC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0060 a0001c0001t0020g0060	1	444	0.0023	-40	c.496 others(55): Show c.496+735_496+774delGCGTCTCCCGCGCTGGGTTTGTGGTTGTGT GGCGTCATGG	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	5/5			chr21	TogoVar
PTTG1IP_chr21_44844598_44878690	44854443	GCCACACA others(33): Show GCCACACAACCACAAACCCAGCGCGGGAGACGCCCATGACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01081.hp2 others(32): Show HG00099.hp1 HG00733.hp2 HG01081.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01515.hp2 HG01975.hp1 HG01981.hp1 HG02559.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 NA19002.hp2 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 others(3): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0021	a0001c0001t0004g0012 a0001c0001t0004g0030 a0001c0001t0004g0034 others(25): Show a0001c0001t0004g0012 a0001c0001t0004g0030 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0096 a0001c0001t0004g0119 a0001c0001t0004g0126 a0001c0001t0004g0131 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0008g0026 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0001t0008g0128 a0001c0001t0009g0090 a0001c0001t0009g0102 a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0009g0116 a0001c0001t0011g0033 a0001c0001t0011g0133 a0001c0001t0014g0264 a0001c0001t0014g0265 a0001c0001t0021g0137	35	444	0.0788	-40	c.496 others(55): Show c.496+727_496+766delTGTCATGGGCGTCTCCCGCGCTGGGTTTGT GGTTGTGTGG	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	5/5			chr21	TogoVar
PUM1_chr1_30926506_31070717	30972269	AAGGGAAG others(33): Show AAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp1 HG02257.hp2 others(2): Show HG00140.hp1 HG01358.hp1 HG02257.hp2 HG02622.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0013 a0001c0001t0001 a0001c0001t0002 a0001c0006t0013	a0001c0001t0001g0005 a0001c0001t0001g0128 a0001c0001t0002g0040 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0128 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0006t0013g0009	5	334	0.0150	-40	c.150 others(59): Show c.1506+2342_1506+2381delCCCCTCCCCTCCCCTCCCCTCCCCTT CCCTTCCCTTCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972429	GAGGGGAG others(33): Show GAGGGGAGGGGAGGGGAGGGAAGAGAAGAGAAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03471.hp2 HG02970.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0133 a0001c0001t0001g0135	2	334	0.0060	-40	c.150 others(59): Show c.1506+2182_1506+2221delTCTCTTCTCTTCTCTTCTCTTCCCTC CCCTCCCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUSL1_chr1_1303597_1316677	1315747	GGCGGGAG others(33): Show GGCGGGAGCGAGGGAGGTGGGGGCGGGGAGGGAGGGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	-40	c.43 others(51): Show c.4369_*4408delGCGGGAGCGAGGGAGGTGGGGGCGGGGAGGGAGG GAGGGA	PUSL1	ENSG00000169972.13	transcript	ENST00000379031.10	protein_coding		4071		chr1	TogoVar
PVR_chr19_44638910_44671162	44645128	AATATATT others(33): Show AATATATTATATATATTATTATAATATATAATATGTATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(74): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03834.hp2 HG03942.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18962.hp2 NA18969.hp1 NA18971.hp1 NA18982.hp2 NA18986.hp2 NA18991.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA20752.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0066 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0001t0089 a0005c0006t0009 a0005c0006t0034	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0047 others(48): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0047 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0160 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0213 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0004g0049 a0001c0001t0005g0001 a0001c0001t0005g0051 a0001c0001t0005g0214 a0001c0001t0006g0208 a0001c0001t0008g0005 a0001c0001t0008g0209 a0001c0001t0009g0001 a0001c0001t0009g0005 a0001c0001t0009g0053 a0001c0001t0009g0203 a0001c0001t0014g0029 a0001c0001t0014g0221 a0001c0001t0014g0222 a0001c0001t0017g0001 a0001c0001t0017g0205 a0001c0001t0021g0001 a0001c0001t0022g0005 a0001c0001t0022g0212 a0001c0001t0030g0047 a0001c0001t0031g0001 a0001c0001t0031g0029 a0001c0001t0032g0048 a0001c0001t0034g0216 a0001c0001t0066g0005 a0001c0001t0080g0206 a0001c0001t0081g0050 a0001c0001t0082g0001 a0001c0001t0084g0005 a0001c0001t0086g0048 a0001c0001t0089g0001 a0005c0006t0009g0052 a0005c0006t0034g0215	77	412	0.1869	-40	c.79+ others(55): Show c.79+1031_79+1070delATTATATATTATATATATTATTATAATATA TAATATGTAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44668396	ATAATATG others(33): Show ATAATATGTTTATATATTATATATATAATATATTTATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02055.hp2 HG02615.hp2 others(8): Show HG01099.hp1 HG02055.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02895.hp2 HG02965.hp1 HG03540.hp1 HG06807.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0043 a0001c0001t0090 a0002c0002t0036	a0001c0001t0002g0158 a0001c0001t0007g0013 a0001c0001t0007g0061 others(6): Show a0001c0001t0002g0158 a0001c0001t0007g0013 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0063 a0001c0001t0008g0169 a0001c0001t0043g0013 a0001c0001t0090g0103 a0002c0002t0036g0139	11	412	0.0267	-40	c.65 others(51): Show c.6586_*6625delTAATATGTTTATATATTATATATATAATATATTT ATATAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2235		chr19	TogoVar
PXDNL_chr8_51314577_51814445	51533996	TGAGGAGC others(33): Show TGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG02109.hp1 others(7): Show HG00741.hp2 HG01884.hp2 HG02109.hp1 HG02145.hp2 HG02615.hp1 HG02630.hp2 HG02886.hp2 HG02896.hp2 NA18522.hp1 NA19240.hp1	a0004 a0008 a0021 a0004 a0008 a0021	a0004c0004 a0008c0008 a0021c0022 a0004c0004 a0008c0008 a0021c0022	a0004c0004t0001 a0004c0004t0003 a0008c0008t0001 others(2): Show a0004c0004t0001 a0004c0004t0003 a0008c0008t0001 a0008c0008t0003 a0021c0022t0003	a0004c0004t0001g0037 a0004c0004t0001g0049 a0004c0004t0001g0050 others(7): Show a0004c0004t0001g0037 a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0065 a0004c0004t0001g0076 a0004c0004t0003g0001 a0008c0008t0001g0059 a0008c0008t0001g0064 a0008c0008t0003g0007 a0021c0022t0003g0004	10	122	0.0820	-40	c.380 others(59): Show c.380+22804_380+22843delGCTTCCTAGATGGGATGGCGGCCGGG CAGAGACGCTCCTC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51577971	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0007 a0007	a0007c0024 a0007c0024	a0007c0024t0003 a0007c0024t0003	a0007c0024t0003g0009 a0007c0024t0003g0009	1	122	0.0082	-40	c.308 others(59): Show c.308+14616_308+14655delTCCTTCCTTCCTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51744065	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	122	0.0082	-40	c.164 others(59): Show c.164+65076_164+65115delTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51744954	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01243.hp1 others(3): Show HG00438.hp1 HG00673.hp1 HG01243.hp1 HG03492.hp1 NA18747.hp1 NA18984.hp1	a0001 a0003 a0013 others(1): Show a0001 a0003 a0013 a0027	a0001c0001 a0003c0003 a0013c0030 others(1): Show a0001c0001 a0003c0003 a0013c0030 a0027c0031	a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 others(2): Show a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 a0013c0030t0002 a0027c0031t0002	a0001c0001t0002g0097 a0001c0001t0002g0113 a0003c0003t0001g0051 others(3): Show a0001c0001t0002g0097 a0001c0001t0002g0113 a0003c0003t0001g0051 a0003c0003t0002g0107 a0013c0030t0002g0105 a0027c0031t0002g0121	6	122	0.0492	-40	c.164 others(59): Show c.164+64187_164+64226delCCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1703839	GGGGGGAC others(33): Show GGGGGGACAGCTCCAGGTGAAGGGGGGCAACTCCAGGTGAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0049 a0001c0010t0008g0049	1	322	0.0031	-40	c.201 others(59): Show c.201-10745_201-10706delTTCACCTGGAGTTGCCCCCCTTCACC TGGAGCTGTCCCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXMP2_chr12_132682587_132709985	132693601	TAGTTAGT others(33): Show TAGTTAGTGAGCGCCCTTGCCAGTCAGTGAGCGCCCTTGCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00735.hp1 others(74): Show HG00438.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18979.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0002 a0001c0002t0006 a0003c0009t0002 a0001c0002t0002 a0001c0002t0006 a0003c0009t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0022 others(28): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0153 a0001c0002t0002g0162 a0001c0002t0006g0002 a0003c0009t0002g0062	77	350	0.2200	-40	c.237 others(57): Show c.237-2259_237-2220delCAGTGAGCGCCCTTGCCAGTTAGTGAGC GCCCTTGCCAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132694372	TAGTGAGC others(33): Show TAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCGCCCTTGCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	350	0.0029	-40	c.237 others(57): Show c.237-1508_237-1469delGAGCGCCCTTGCCAGTTAGTTAGTGAGC GCCCTTGCCAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar

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