Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
P2RX5_chr17_3668227_3701155	3686870	GCACAGCG others(61): Show GCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG00280.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	362	0.0055	-68	c.981 others(85): Show c.981+1074_981+1141delTGTTCTCCTGTTCTGAGGCTGGGCGGGG GGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687379	GAGAACAG others(61): Show GAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01074.hp1 others(11): Show HG00140.hp2 HG00280.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01346.hp1 HG01981.hp1 HG02155.hp2 HG04184.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0082 others(11): Show a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0337 a0001c0001t0002g0257 a0001c0001t0002g0292	14	362	0.0387	-68	c.981 others(83): Show c.981+565_981+632delGAGGCTGGGCGGGGGGCGGGGGACGTTGGG AGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687600	GCCCCCAG others(61): Show GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACACACAGCGGGA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	362	0.0028	-68	c.981 others(83): Show c.981+344_981+411delTCCCGCTGTGTGTTCTCCTGTTCTGAGGCT GGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687773	GAGAACAG others(61): Show GAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp2 HG03831.hp2 others(2): Show HG02258.hp2 HG03209.hp2 HG03831.hp2 NA18963.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0001g0332 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0001g0332 a0001c0001t0002g0110	5	362	0.0138	-68	c.981 others(83): Show c.981+171_981+238delGAGGCTGGGCGGGGGGCGGGGGACGTTGGG AGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RY10_chrX_78940391_78968727	78965765	TCTTTCTT others(61): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTTTT CTTTCTTTTCTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03225.hp1 HG02630.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	2	322	0.0062	-68	c.42 others(79): Show c.4226_*4293delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTTTCTTTTTTCTTTCTTTTCTTTCTTTTC	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding		2039		chrX	TogoVar
PAXBP1_chr21_32728899_32776755	32771848	AAGAGAGA others(61): Show AAGAGAGAGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 NA18906.hp2 NA19030.hp1 others(1): Show HG03195.hp1 NA18906.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0029 a0001c0004t0001g0172 a0001c0004t0001g0193 a0001c0004t0001g0029 a0001c0004t0001g0172 a0001c0004t0001g0193	4	360	0.0111	-68	c.-24 others(77): Show c.-248_-181delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCACTCTCTCTCT	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		94		chr21	TogoVar
PAXBP1_chr21_32728899_32776755	32771881	AGAGAGAG others(61): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02004.hp2 HG02559.hp2 others(13): Show HG01891.hp1 HG02004.hp2 HG02559.hp2 HG02602.hp2 HG02738.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 NA18970.hp1 NA18970.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19057.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0168 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0004g0242	16	360	0.0444	-68	c.-28 others(77): Show c.-281_-214delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		127		chr21	TogoVar
PCBP3_chr21_45638725_45947450	45943996	GTGAGGAA others(61): Show GTGAGGAACACTTCAGGTGGGGGGAGCACTCCAGGTGAGGAACACCTCAG GTGCGGGGAGCACTCCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0174 a0002c0006t0001g0174	1	292	0.0034	-68	c.22 others(79): Show c.2291_*2358delTGAGGAACACTTCAGGTGGGGGGAGCACTCCAGG TGAGGAACACCTCAGGTGCGGGGAGCACTCCAGA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding		1547		chr21	TogoVar
PCDH15_chr10_53797771_54806231	54307038	GTGTATAT others(61): Show GTGTATATATATATATATATATATATATATATATATATATATACATATAT ATATATGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03492.hp2 HG06807.hp2 HG03225.hp1 HG03492.hp2 HG06807.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0017 a0001c0001 a0002c0002 a0011c0017	a0001c0001t0001 a0002c0002t0004 a0011c0017t0002 a0001c0001t0001 a0002c0002t0004 a0011c0017t0002	a0001c0001t0001g0089 a0002c0002t0004g0077 a0011c0017t0002g0072 a0001c0001t0001g0089 a0002c0002t0004g0077 a0011c0017t0002g0072	3	102	0.0294	-68	c.876 others(87): Show c.876+10165_876+10232delTACACACACACACATATATATATATG TATATATATATATATATATATATATATATATATATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307038	GTGTATAT others(61): Show GTGTATATATATATATATATATATATATATATATATATATATACATATAT ATATATGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03492.hp2 HG06807.hp1 HG03225.hp1 HG03492.hp2 HG06807.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0021 a0001c0001 a0002c0002 a0011c0021	a0001c0001t0001 a0002c0002t0002 a0011c0021t0001 a0001c0001t0001 a0002c0002t0002 a0011c0021t0001	a0001c0001t0001g0081 a0002c0002t0002g0071 a0011c0021t0001g0066 a0001c0001t0001g0081 a0002c0002t0002g0071 a0011c0021t0001g0066	3	94	0.0319	-68	c.876 others(87): Show c.876+10165_876+10232delTACACACACACACATATATATATATG TATATATATATATATATATATATATATATATATATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCGF3_chr4_700832_775089	736907	TCCCCTGA others(61): Show TCCCCTGAGCGCACGGGACGCGGGGAACCTGGGGTGTCTGCAGGGACGGT GTCCCCTGAGCGCACGGGA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0006 a0001c0001t0061g0006	1	366	0.0027	-68	c.207 others(83): Show c.207-557_207-490delCCCTGAGCGCACGGGACGCGGGGAACCTGG GGTGTCTGCAGGGACGGTGTCCCCTGAGCGCACGGGAC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCNT_chr21_46319156_46450769	46383934	AGAAGCGC others(61): Show AGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCA TGTTGTATATTCAGTGGCG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	332	0.0030	-68	c.331 others(87): Show c.3313-1866_3313-1799delGCGGAAGCGCATTCACCATGTTGTAT ATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK5_chr9_75885673_76367975	75908875	TTATCTAT others(61): Show TTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT CTCTATCTCTCTCTCTGTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01496.hp1 HG01433.hp2 HG01496.hp1	a0004 a0010 a0004 a0010	a0004c0026 a0010c0018 a0004c0026 a0010c0018	a0004c0026t0052 a0010c0018t0051 a0004c0026t0052 a0010c0018t0051	a0004c0026t0052g0089 a0010c0018t0051g0088 a0004c0026t0052g0089 a0010c0018t0051g0088	2	166	0.0121	-68	c.192 others(87): Show c.192+17551_192+17618delTCTCTATCTCTCTCTCTGTCTATCTA TCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDE4D_chr5_58964038_59898726	59172036	TTATATAT others(61): Show TTATATATATAATATATATATATTATATATATAATAAATATATATTATAT ATATAATAAATATATATTA	T T	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0035 a0001c0001t0010g0035	1	74	0.0135	-68	c.808 others(85): Show c.808+8491_808+8558delTAATATATATTTATTATATATATAATAT ATATTTATTATATATATAATATATATATATTATATATATA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDF_chr16_69321913_69335588	69325359	TGCCGCTA others(61): Show TGCCGCTAACATTTAAAAGTCGAGAGTTGCTGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp2 others(100): Show HG00099.hp2 HG00280.hp1 HG00544.hp2 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG01109.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp1 NA18985.hp2 NA18997.hp2 NA18998.hp2 NA19001.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA19064.hp1 NA19067.hp1 NA19072.hp2 NA19076.hp2 NA19087.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0003 a0002c0007 others(1): Show a0002c0002 a0002c0003 a0002c0007 a0004c0006	a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 others(20): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0010 a0002c0002t0012 a0002c0002t0013 a0002c0002t0016 a0002c0002t0017 a0002c0002t0019 a0002c0002t0020 a0002c0002t0027 a0002c0002t0029 a0002c0002t0032 a0002c0002t0033 a0002c0003t0007 a0002c0003t0009 a0002c0003t0014 a0002c0003t0015 a0002c0003t0018 a0002c0003t0022 a0002c0007t0009 a0004c0006t0005	a0002c0002t0003g0003 a0002c0002t0003g0021 a0002c0002t0004g0004 others(23): Show a0002c0002t0003g0003 a0002c0002t0003g0021 a0002c0002t0004g0004 a0002c0002t0004g0015 a0002c0002t0004g0030 a0002c0002t0005g0006 a0002c0002t0006g0005 a0002c0002t0010g0011 a0002c0002t0012g0012 a0002c0002t0013g0016 a0002c0002t0016g0019 a0002c0002t0017g0022 a0002c0002t0019g0023 a0002c0002t0020g0024 a0002c0002t0027g0032 a0002c0002t0029g0031 a0002c0002t0032g0033 a0002c0002t0033g0034 a0002c0003t0007g0008 a0002c0003t0009g0018 a0002c0003t0014g0017 a0002c0003t0015g0020 a0002c0003t0018g0025 a0002c0003t0022g0035 a0002c0007t0009g0036 a0004c0006t0005g0029	103	364	0.2830	-68	c.35 others(79): Show c.3595_*3662delCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCAGCAACTCTCGACTTTTAAATGTTAGCGGC	PDF	ENSG00000258429.2	transcript	ENST00000288022.2	protein_coding		1553		chr16	TogoVar
PDXK_chr21_43714129_43767299	43741154	GGGGGGCT others(61): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGC	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	358	0.0028	-68	c.143 others(83): Show c.143-507_143-440delCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741177	GGGGGGCT others(61): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG00741.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0137 a0001c0001t0002g0123 a0001c0001t0002g0137	2	358	0.0056	-68	c.143 others(83): Show c.143-484_143-417delCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741304	GGGGGGCT others(61): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTGGC	G G	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	358	0.0028	-68	c.143 others(83): Show c.143-357_143-290delCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741315	GGGGGGGC others(61): Show GGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTGGCGGGGGGCTGGC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0358 a0001c0001t0052g0358	1	358	0.0028	-68	c.143 others(83): Show c.143-334_143-267delCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDYN_chr20_1973759_1999058	1995306	TTTCCTAG others(61): Show TTTCCTAGAGACACACAGCAAGTAAGTCATCCAGCTAGAACCTAAAGTCA GGTCCATCTATCCTCCAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(183): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0003 a0003c0004 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0012 a0001c0006t0002 a0001c0008t0001 a0002c0003t0003 a0003c0004t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0003g0123 a0001c0001t0004g0099 a0001c0001t0006g0016 a0001c0001t0007g0014 a0001c0001t0013g0035 a0001c0001t0014g0107 a0001c0001t0016g0120 a0001c0001t0017g0135 a0001c0002t0002g0115 a0001c0002t0002g0140 a0001c0002t0003g0030 a0001c0002t0003g0145 a0001c0002t0008g0093 a0001c0002t0012g0116 a0001c0006t0002g0092 a0001c0008t0001g0147 a0002c0003t0003g0133 a0003c0004t0001g0097 a0006c0007t0001g0134	186	390	0.4769	-68	c.-15 others(79): Show c.-1543_-1476delCTTGGAGGATAGATGGACCTGACTTTAGGTTCTA GCTGGATGACTTACTTGCTGTGTGTCTCTAGGAA	PDYN	ENSG00000101327.9	transcript	ENST00000217305.3	protein_coding		1249		chr20	TogoVar
PDYN_chr20_1973759_1999058	1995366	TCCTCCAA others(61): Show TCCTCCAAGTTCCTAGAGACACACAGCAAGTAAGTCATCCAGCTAGAACC TAAAGTCAGGTCCATCTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01433.hp2 HG01884.hp2 others(26): Show HG00735.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02738.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp2 HG04115.hp2 HG06807.hp1 NA18969.hp2 NA18977.hp2 NA19030.hp1 NA19063.hp1 NA19078.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0018	a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0156 others(20): Show a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0156 a0001c0001t0002g0002 a0001c0001t0002g0027 a0001c0001t0002g0047 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0005g0038 a0001c0001t0009g0040 a0001c0001t0010g0053 a0001c0001t0011g0046 a0001c0001t0019g0159 a0001c0002t0002g0086 a0001c0002t0002g0157 a0001c0002t0003g0151 a0001c0002t0003g0152 a0001c0002t0009g0153 a0001c0002t0018g0158	29	390	0.0744	-68	c.-16 others(79): Show c.-1603_-1536delGTAGATGGACCTGACTTTAGGTTCTAGCTGGATG ACTTACTTGCTGTGTGTCTCTAGGAACTTGGAGG	PDYN	ENSG00000101327.9	transcript	ENST00000217305.3	protein_coding		1309		chr20	TogoVar
PDZD2_chr5_31634131_32115932	31849881	TATATATA others(61): Show TATATATACACATATATATATATACATATATATATATACATATATATATA TACACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0046 a0006c0015t0046	a0006c0015t0046g0005 a0006c0015t0046g0005	1	216	0.0046	-68	c.476 others(87): Show c.476+50165_476+50232delCACATATATATATATACATATATATA TATACATATATATATATACACATATATATATATACATATATA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PHYHIPL_chr10_59171643_59252770	59218674	TTTGAGTG others(61): Show TTTGAGTGATCTTGGTCTGATATAGTTTGAGGGACTCTCTTTAGAAAAAA GAATACATAATTATAAATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00673.hp1 others(32): Show HG00558.hp2 HG00597.hp1 HG00673.hp1 HG00733.hp1 HG02027.hp1 HG02602.hp1 HG02698.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04228.hp1 NA18939.hp2 NA18946.hp1 NA18950.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18963.hp1 NA18965.hp1 NA18970.hp1 NA18981.hp1 NA18982.hp1 NA18988.hp2 NA18994.hp2 NA18997.hp2 NA19003.hp2 NA19067.hp2 NA19077.hp1 NA19083.hp1 NA19087.hp1 NA19090.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0030 others(30): Show a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0191 a0001c0001t0009g0039	35	202	0.1733	-68	c.107 others(87): Show c.107-15561_107-15494delTTGAGTGATCTTGGTCTGATATAGTT TGAGGGACTCTCTTTAGAAAAAAGAATACATAATTATAAATA	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(61): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02559.hp2 NA18522.hp2 HG00323.hp2 HG02559.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0211 a0001c0002t0008g0312 a0001c0002t0008g0325 a0001c0001t0001g0211 a0001c0002t0008g0312 a0001c0002t0008g0325	3	350	0.0086	-68	c.51 others(79): Show c.5139_*5206delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PIAS4_chr19_4002736_4044386	4011673	GGGGGTGT others(61): Show GGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	334	0.0030	-68	c.28- others(83): Show c.28-1130_28-1063delGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PID1_chr2_229018973_229276287	229059486	GAGGAAAA others(61): Show GAGGAAAAAACTCAGTATCAGAAAAGCAAACTGACTTGTCCAGTTCCACA GTCTAAGGGATGCCACCAT	G G	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	256	0.0039	-68	c.178 others(87): Show c.178-33446_178-33379delATGGTGGCATCCCTTAGACTGTGGAA CTGGACAAGTCAGTTTGCTTTTCTGATACTGAGTTTTTTCCT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PJA2_chr5_109329722_109414974	109353144	CTAGATAT others(61): Show CTAGATATCTATATATTAGATATCTATAATATCTATAGATATCTATATAT TAGATACCTATAATATCTA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	346	0.0029	-68	c.176 others(87): Show c.1764+2703_1764+2770delTAGATATTATAGGTATCTAATATATA GATATCTATAGATATTATAGATATCTAATATATAGATATCTA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109354228	GTCTAGAG others(61): Show GTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATATCTAT AGATTAGATATCTATGATA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	346	0.0029	-68	c.176 others(87): Show c.1764+1619_1764+1686delTATCATAGATATCTAATCTATAGATA TCTCTAGACATCATAGATATCTAATCTATAGAAATCTCTAGA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100314981	AGGAAGGA others(61): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03130.hp1 HG03225.hp1 HG01884.hp1 HG03130.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0287 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0287	3	306	0.0098	-68	c.349 others(87): Show c.349+14162_349+14229delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PLCXD1_chrX_276381_308356	277372	GGGACACC others(61): Show GGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGGTCAG GGCACGTGGGGACAGGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03516.hp1 HG01891.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0087 a0001c0001t0086 a0001c0001t0087	a0001c0001t0086g0061 a0001c0001t0087g0060 a0001c0001t0086g0061 a0001c0001t0087g0060	2	176	0.0114	-68	c.-43 others(79): Show c.-4333_-4266delGGACACCCCTCAGTGGTCAGGGGACCTGGGATGT GAGGGGAGGGGTCAGGGCACGTGGGGACAGGAGT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		4008		chrX	TogoVar
PLCXD1_chrX_276381_308356	277656	TGTGGGGA others(61): Show TGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGATGTG AGGGGAGGGGTCAGGGCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0100 a0001c0001t0018g0100	1	176	0.0057	-68	c.-40 others(79): Show c.-4049_-3982delGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAG GGGACCTGGGATGTGAGGGGAGGGGTCAGGGCAC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		3724		chrX	TogoVar
PLD1_chr3_171595404_171815483	171688028	ATTTTTTA others(61): Show ATTTTTTAATAAGTGTATTCATATTCTGGCAGCCATTTAGTTGAAATAGC AAGCAGATTGATATACACT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	1	294	0.0034	-68	c.154 others(85): Show c.1540-512_1540-445delAGTGTATATCAATCTGCTTGCTATTTCA ACTAAATGGCTGCCAGAATATGAATACACTTATTAAAAAA	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	14/26			chr3	TogoVar
PLD5_chr1_242077986_242529697	242393539	TATATATG others(61): Show TATATATGTGTATATATATGAGTATATATGTGTATATATATGAGTATACA TATGTGTATATATATGAGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0045 a0001c0001t0038g0045	1	188	0.0053	-68	c.190 others(87): Show c.190-45365_190-45298delGCTCATATATATACACATATGTATAC TCATATATATACACATATATACTCATATATATACACATATAT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394433	AGTATATA others(61): Show AGTATATATGTGTGTATATGAGTATATATGTGAACATATATATGTGTATA TATGTGAACATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02735.hp2 HG03710.hp2 others(2): Show HG01515.hp2 HG02735.hp2 HG03710.hp2 HG04204.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 a0001c0002t0013 a0001c0002t0025	a0001c0001t0001g0063 a0001c0001t0007g0040 a0001c0002t0003g0154 others(2): Show a0001c0001t0001g0063 a0001c0001t0007g0040 a0001c0002t0003g0154 a0001c0002t0013g0171 a0001c0002t0025g0161	5	188	0.0266	-68	c.190 others(87): Show c.190-46259_190-46192delACATATATATGTTCACATATATACAC ATATATATGTTCACATATATACTCATATACACACATATATAC	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394637	TATATATG others(61): Show TATATATGTGTATATATGTGAACATATATATGTGTATATATGTGAACATA TATGTGTATATATGTGAAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG03225.hp2 HG02572.hp2 HG02896.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0059 a0001c0002t0065 a0001c0001t0001 a0001c0002t0059 a0001c0002t0065	a0001c0001t0001g0031 a0001c0002t0059g0130 a0001c0002t0065g0132 a0001c0001t0001g0031 a0001c0002t0059g0130 a0001c0002t0065g0132	3	188	0.0160	-68	c.190 others(87): Show c.190-46463_190-46396delGTTCACATATATACACATATATGTTC ACATATATACACATATATATGTTCACATATATACACATATAT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394703	AACATATA others(61): Show AACATATATGTGTATATATGTGAACATATATGTGTATATATGTGAACATA TATGTGTATATATGTGAAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0172 a0001c0002t0013g0172	1	188	0.0053	-68	c.190 others(87): Show c.190-46529_190-46462delATTCACATATATACACATATATGTTC ACATATATACACATATATGTTCACATATATACACATATATGT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLK5_chr19_1519077_1541046	1528459	ACACCTGC others(61): Show ACACCTGCCCACGCCTCCCACCTGCCCACACCTCCCACCTGCCCACGCCT CCCACCTGCCCACACCTCC	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19240.hp2 NA19062.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0119 a0001c0001t0008g0140 a0001c0001t0001g0119 a0001c0001t0008g0140	2	430	0.0047	-68	c.328 others(82): Show c.328+60_328+127delACCTCCCACCTGCCCACGCCTCCCACCTGCC CACACCTCCCACCTGCCCACGCCTCCCACCTGCCCAC	PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLK5_chr19_1519077_1541046	1528488	ACCTCCCA others(61): Show ACCTCCCACCTGCCCACGCCTCCCACCTGCCCACACCTCCCACCTGCCCA CGCCTCCCACCTGCCCACG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02647.hp1 others(5): Show HG02257.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG03139.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0005 a0005c0006 others(1): Show a0001c0001 a0005c0005 a0005c0006 a0006c0007	a0001c0001t0043 a0005c0005t0019 a0005c0005t0075 others(2): Show a0001c0001t0043 a0005c0005t0019 a0005c0005t0075 a0005c0006t0077 a0006c0007t0076	a0001c0001t0043g0189 a0005c0005t0019g0014 a0005c0005t0019g0042 others(3): Show a0001c0001t0043g0189 a0005c0005t0019g0014 a0005c0005t0019g0042 a0005c0005t0075g0014 a0005c0006t0077g0317 a0006c0007t0076g0318	8	430	0.0186	-68	c.328 others(82): Show c.328+94_328+161delACCTCCCACCTGCCCACGCCTCCCACCTGCC CACGCCTCCCACCTGCCCACGCCTCCCACCTGCCCAC	PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLK5_chr19_1519077_1541046	1528559	TCCCACCT others(61): Show TCCCACCTGCCCACGCCTCCCACCTGCCCACGCCTCCCACCTGCCCACGC CCCCCACCTGCCCACGCCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18906.hp1 NA19030.hp1 HG01884.hp2 NA18906.hp1 NA19030.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0015 a0008c0008t0067 a0008c0008t0015 a0008c0008t0067	a0008c0008t0015g0322 a0008c0008t0015g0326 a0008c0008t0067g0194 a0008c0008t0015g0322 a0008c0008t0015g0326 a0008c0008t0067g0194	3	430	0.0070	-68	c.328 others(83): Show c.328+145_328+212delGCCTCCCACCTGCCCACGCCTCCCACCTGC CCACGCCCCCCACCTGCCCACGCCCCCCACCTGCCCAC	PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLXNC1_chr12_94143577_94312675	94177133	ATATATGT others(61): Show ATATATGTGTGTGTGTGTATATATATATGTATATATATATATACGTATAT ATATGTATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp1 others(38): Show HG00423.hp1 HG00544.hp1 HG00621.hp1 HG00735.hp2 HG00738.hp2 HG01167.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01978.hp2 HG01981.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02647.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04204.hp2 NA18612.hp2 NA18945.hp1 NA18954.hp2 NA18957.hp2 NA18961.hp2 NA18977.hp2 NA18979.hp2 NA18992.hp1 NA19003.hp1 NA19007.hp1 NA19012.hp2 NA19063.hp1 NA19066.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0012 a0001c0013 a0001c0027 a0004c0041	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0004t0004 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0009t0001 a0001c0012t0002 a0001c0013t0001 a0001c0027t0001 a0004c0041t0001	a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0032 others(38): Show a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0165 a0001c0001t0003g0135 a0001c0001t0004g0019 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0002t0001g0183 a0001c0002t0001g0207 a0001c0002t0001g0215 a0001c0002t0001g0221 a0001c0002t0001g0251 a0001c0002t0002g0205 a0001c0003t0001g0011 a0001c0003t0001g0068 a0001c0003t0001g0079 a0001c0003t0001g0170 a0001c0003t0005g0281 a0001c0003t0005g0282 a0001c0003t0005g0283 a0001c0004t0001g0108 a0001c0004t0001g0178 a0001c0004t0001g0201 a0001c0004t0001g0220 a0001c0004t0001g0238 a0001c0004t0004g0227 a0001c0005t0002g0210 a0001c0006t0001g0105 a0001c0006t0002g0024 a0001c0009t0001g0212 a0001c0012t0002g0214 a0001c0012t0002g0250 a0001c0013t0001g0203 a0001c0027t0001g0073 a0004c0041t0001g0179	41	298	0.1376	-68	c.120 others(87): Show c.1204-4307_1204-4240delGTGTGTGTGTGTATATATATATGTAT ATATATATATACGTATATATATGTATATATATATACGTATAT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PNMA6E_chrX_153390639_153406350	153390700	ACATGCAC others(61): Show ACATGCACACCACGCACACTCACACACCACACACACCATGCACACCACGC ACACACACCACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	346	0.0029	-68	c.61 others(79): Show c.6138_*6205delGTGTGTGTGTGGTGTGTGTGCGTGGTGTGCATGG TGTGTGTGGTGTGTGAGTGTGCGTGGTGTGCATG	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4938		chrX	TogoVar
POLB_chr8_42333494_42376808	42347249	GGAATTAC others(61): Show GGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGT AATTCTAGAAATTATTCTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02809.hp2 others(6): Show HG02055.hp1 HG02647.hp2 HG02809.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0092 a0001c0001t0001g0093 others(6): Show a0001c0001t0001g0037 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110	9	314	0.0287	-68	c.187 others(85): Show c.187-1628_187-1561delATTACTCCTCAGTAATTCTAGAAATTAT TCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POU6F1_chr12_51181936_51223062	51199139	GATGGAAC others(61): Show GATGGAACCAAGTGGTCAAGGCCCCGCAGAGGCTAATGGAACCAAGTGGT CAAGGCCCCGCAGAGGCTA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	440	0.0023	-68	c.367 others(83): Show c.367-432_367-365delTAGCCTCTGCGGGGCCTTGACCACTTGGTT CCATTAGCCTCTGCGGGGCCTTGACCACTTGGTTCCAT	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	4/10			chr12	TogoVar
PPA1_chr10_70197835_70238429	70220854	ATAATTCT others(61): Show ATAATTCTTATATATATAATATATACTTTATATATACTATATATATAATT TATATATAATATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp1 HG02280.hp2 others(12): Show HG01106.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp1 HG03209.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 a0001c0001t0001 a0001c0001t0002 a0001c0003t0004	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 others(12): Show a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045	15	408	0.0368	-68	c.124 others(85): Show c.124-2105_124-2038delATTATATATATTATATATAAATTATATA TATAGTATATATAAAGTATATATTATATATATAAGAATTA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPP2R3C_chr14_35080472_35126990	35090373	CTGGGATT others(61): Show CTGGGATTACAGGCATGTGGACCCAGTTATTGGGGAGGCTGAGTGGGAAG ACTGCCTGAGCCCAGGAGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	378	0.0027	-68	c.111 others(85): Show c.1113+629_1113+696delACTCCTGGGCTCAGGCAGTCTTCCCACT CAGCCTCCCCAATAACTGGGTCCACATGCCTGTAATCCCA	PPP2R3C	ENSG00000092020.11	transcript	ENST00000261475.10	protein_coding	11/12			chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101918516	CGCCCCCC others(61): Show CGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCCAC CCCTCAGCCTTCTCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19012.hp2 HG02165.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0056 a0001c0001t0001g0070	2	138	0.0145	-68	c.160 others(85): Show c.1608+588_1608+655delGCTCCTCTCGCCCCCCCACCCCTCCCCC CACCCCTCAGCCTTCTCCCCTTGCCCCCCTCATCCCCCTC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP5C_chr19_46342087_46395975	46389362	AACACACA others(61): Show AACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02897.hp2 HG02486.hp1 HG02615.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0005	a0001c0001t0001g0245 a0001c0003t0005g0366 a0001c0003t0005g0370 a0001c0001t0001g0245 a0001c0003t0005g0366 a0001c0003t0005g0370	3	394	0.0076	-68	c.135 others(85): Show c.1356-657_1356-590delCACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRDM15_chr21_41793225_41884344	41855896	TCCTTCCT others(61): Show TCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCC TTCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02300.hp1 HG02622.hp1 others(9): Show HG01243.hp1 HG02300.hp1 HG02622.hp1 HG02647.hp2 HG02735.hp2 HG02818.hp2 HG03130.hp1 HG03195.hp2 NA18522.hp2 NA18950.hp1 NA18954.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010	a0001c0001t0004 a0001c0001t0009 a0001c0002t0002 others(5): Show a0001c0001t0004 a0001c0001t0009 a0001c0002t0002 a0001c0005t0007 a0001c0005t0009 a0001c0005t0049 a0001c0010t0012 a0001c0010t0025	a0001c0001t0004g0057 a0001c0001t0004g0204 a0001c0001t0009g0215 others(9): Show a0001c0001t0004g0057 a0001c0001t0004g0204 a0001c0001t0009g0215 a0001c0002t0002g0326 a0001c0005t0007g0010 a0001c0005t0009g0117 a0001c0005t0009g0118 a0001c0005t0049g0403 a0001c0010t0012g0008 a0001c0010t0012g0009 a0001c0010t0012g0012 a0001c0010t0025g0006	12	406	0.0296	-68	c.286 others(85): Show c.286-1146_286-1079delGAGGGAGGGAGGGAGGGAAGGAAAGGAA GGAAGGGAGGGAGGGAGGGAGGGAAGGAAAGGAAGGAAGG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRIMPOL_chr4_184644738_184699952	184676650	CTCCTTCC others(61): Show CTCCTTCCCTTCCCCTTCCTTCCCCCTTTCTTTCCTTTCCCGTCCCCCCC CTTCCCTTTCTCCTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03688.hp1 HG03710.hp1 others(1): Show HG02602.hp1 HG03688.hp1 HG03710.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029	4	328	0.0122	-68	c.845 others(85): Show c.845-1578_845-1511delTTCCCTTCCCCTTCCTTCCCCCTTTCTT TCCTTTCCCGTCCCCCCCCTTCCCTTTCTCCTTCCCTTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKG1_chr10_51069487_52303350	52188198	GTGTATAT others(61): Show GTGTATATATATATGTGTATATATATACATATGTATATATATACATATAT ATGTGTATATATATACATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01099.hp1 others(6): Show HG00639.hp1 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01192.hp2 HG01496.hp2 HG02109.hp2 HG03688.hp2 HG03834.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0009 a0001c0001 a0002c0004 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0004t0004 a0003c0009t0001	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0047 others(6): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0002g0043 a0001c0001t0005g0061 a0002c0004t0004g0053 a0003c0009t0001g0049	9	64	0.1406	-68	c.107 others(89): Show c.1076+26248_1076+26315delTGTGTATATATATACATATGTATA TATATACATATATATGTGTATATATATACATATGTATATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar

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