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
OTUD7A_chr15_31470398_31875673	31860622	G G	GATAAATA others(27): Show GATAAATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02155.hp2 HG02602.hp2 others(3): Show HG00741.hp2 HG02155.hp2 HG02602.hp2 HG02895.hp1 HG04184.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0004 a0001c0002t0022 a0001c0002t0023 others(2): Show a0001c0001t0004 a0001c0002t0022 a0001c0002t0023 a0001c0002t0053 a0002c0003t0003	a0001c0001t0004g0051 a0001c0001t0004g0091 a0001c0002t0022g0050 others(3): Show a0001c0001t0004g0051 a0001c0001t0004g0091 a0001c0002t0022g0050 a0001c0002t0023g0033 a0001c0002t0053g0226 a0002c0003t0003g0067	6	244	0.0246	34	c.-10 others(53): Show c.-100+9884_-100+9885insATATATATATATATATATATATATGT ATATTTAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860622	G G	GATAAATA others(27): Show GATAAATATACATATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0034 a0002c0003t0003g0034	1	244	0.0041	34	c.-10 others(53): Show c.-100+9884_-100+9885insACATATATATATATATATATATATGT ATATTTAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31860622	G G	GATAAATA others(27): Show GATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0093 a0002c0005t0093	a0002c0005t0093g0003 a0002c0005t0093g0003	1	244	0.0041	34	c.-10 others(53): Show c.-100+9884_-100+9885insATATATATATATATATATATATATAT ATATTTAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTULINL_chr5_14576792_14621180	14618408	T T	TATACACA others(27): Show TATACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0009 a0001c0001t0017g0009	1	380	0.0026	34	c.80 others(45): Show c.8094_*8095insATACACACACACACACACACACACACACACACAC	OTULINL	ENSG00000145569.6	transcript	ENST00000274217.4	protein_coding		2229		chr5	TogoVar
OXTR_chr3_8745381_8774613	8773137	A A	AATCTATA others(27): Show AATCTATATATATCTATATATATCTATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0085 a0001c0001t0038g0085	1	474	0.0021	34	c.-41 others(45): Show c.-4146_-4145insATATATATATAGATATATATAGATATATATAGAT	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3525		chr3	TogoVar
P2RX1_chr17_3891592_3921465	3918163	G G	GAGGGGAG others(27): Show GAGGGGAGGGAGGGAGGAAGGAAGGGAGGAAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG02258.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0153 a0001c0001t0012g0154 a0001c0001t0012g0153 a0001c0001t0012g0154	2	378	0.0053	34	c.-19 others(45): Show c.-1939_-1938insTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCCT	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding		1699		chr17	TogoVar
P2RX2_chr12_132613776_132627388	132618232	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA19012.hp1 NA18941.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	386	0.0052	34	c.-58 others(43): Show c.-585_-584insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		543		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0338 a0001c0003t0001g0338	1	388	0.0026	34	c.134 others(51): Show c.134+2527_134+2528insATATATATATATATATATATATATTTTT TTTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0285 a0002c0002t0001g0285	1	366	0.0027	34	c.125 others(51): Show c.125+2929_125+2930insAAAAAAAAAAAAAAAAAATATATATATA TATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA19078.hp2 NA19088.hp2 HG02293.hp2 NA19078.hp2 NA19088.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0001 a0002c0002t0033 a0007c0008t0001 a0002c0002t0001 a0002c0002t0033 a0007c0008t0001	a0002c0002t0001g0292 a0002c0002t0033g0294 a0007c0008t0001g0293 a0002c0002t0001g0292 a0002c0002t0033g0294 a0007c0008t0001g0293	3	366	0.0082	34	c.125 others(51): Show c.125+2929_125+2930insAAAAAAAAAAAAAATATATATATATATA TATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18970.hp2 NA18950.hp1 NA18970.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0007 a0002c0002 a0008c0007	a0002c0002t0001 a0008c0007t0002 a0002c0002t0001 a0008c0007t0002	a0002c0002t0001g0315 a0008c0007t0002g0314 a0002c0002t0001g0315 a0008c0007t0002g0314	2	366	0.0055	34	c.125 others(51): Show c.125+2929_125+2930insAAAAAAAAAAAATATATATATATATATA TATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0333 a0002c0002t0001g0333	1	366	0.0027	34	c.125 others(51): Show c.125+2929_125+2930insAAAAAAAAAATATATATATATATATATA TATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18969.hp1 NA19001.hp1 others(2): Show HG01884.hp2 NA18969.hp1 NA19001.hp1 NA20129.hp2 NA20905.hp2	a0002 a0008 a0017 a0002 a0008 a0017	a0002c0002 a0008c0007 a0017c0020 a0002c0002 a0008c0007 a0017c0020	a0002c0002t0001 a0002c0002t0003 a0002c0002t0035 others(2): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0035 a0008c0007t0002 a0017c0020t0002	a0002c0002t0001g0344 a0002c0002t0003g0347 a0002c0002t0035g0343 others(2): Show a0002c0002t0001g0344 a0002c0002t0003g0347 a0002c0002t0035g0343 a0008c0007t0002g0346 a0017c0020t0002g0345	5	366	0.0137	34	c.125 others(51): Show c.125+2929_125+2930insAAAAAAAATATATATATATATATATATA TATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0348 a0007c0008t0001g0348	1	366	0.0027	34	c.125 others(51): Show c.125+2929_125+2930insAAAAAAAATATATATATATATATATGTA TATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03139.hp2 HG02698.hp2 HG03139.hp2	a0005 a0017 a0005 a0017	a0005c0006 a0017c0020 a0005c0006 a0017c0020	a0005c0006t0001 a0017c0020t0002 a0005c0006t0001 a0017c0020t0002	a0005c0006t0001g0351 a0017c0020t0002g0359 a0005c0006t0001g0351 a0017c0020t0002g0359	2	366	0.0055	34	c.125 others(51): Show c.125+2929_125+2930insAAAAAATATATATATATATATATATATA TATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RY8_chrX_1457581_1542185	1468972	C C	CCCCTTCC others(27): Show CCCCTTCCCTCTCCCTCTCCCCTCCCCTTCCCTCT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	114	0.0088	34	c.-24 others(51): Show c.-24-2391_-24-2390insAGAGGGAAGGGGAGGGGAGAGGGAGAGG GAAGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189970191	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	304	0.0033	34	c.189 others(51): Show c.1893+624_1893+625insATATATATATATATATATATATATATAT ATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(27): Show CACACACACACACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0202 a0001c0001t0006g0202	1	304	0.0033	34	c.481 others(53): Show c.481-12524_481-12523insATATATATATATATGTGTGTGTGTGT GTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(27): Show CACACACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02074.hp2 NA18944.hp1 others(4): Show HG02040.hp2 HG02074.hp2 NA18944.hp1 NA18970.hp1 NA18982.hp2 NA19060.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0002g0254 others(4): Show a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0002g0254 a0001c0002t0002g0272 a0001c0002t0002g0276 a0001c0002t0003g0233 a0001c0002t0003g0268	7	304	0.0230	34	c.481 others(53): Show c.481-12524_481-12523insATATATATATATATATATGTGTGTGT GTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(27): Show CACACACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG04184.hp2 NA19012.hp2 others(1): Show HG00140.hp1 HG04184.hp2 NA19012.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0013 a0001c0002t0002 a0001c0002t0005 a0001c0002t0013	a0001c0002t0002g0291 a0001c0002t0005g0208 a0001c0002t0013g0135 others(1): Show a0001c0002t0002g0291 a0001c0002t0005g0208 a0001c0002t0013g0135 a0001c0002t0013g0147	4	304	0.0132	34	c.481 others(53): Show c.481-12524_481-12523insATATATATATATATATATATGTGTGT GTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(27): Show CACACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	304	0.0033	34	c.481 others(53): Show c.481-12524_481-12523insATATATATATATATATATATATATGT GTGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACACA others(27): Show CACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG06807.hp2 HG03139.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0019 a0001c0001 a0002c0019	a0001c0001t0001 a0002c0019t0015 a0001c0001t0001 a0002c0019t0015	a0001c0001t0001g0117 a0002c0019t0015g0303 a0001c0001t0001g0117 a0002c0019t0015g0303	2	304	0.0066	34	c.481 others(53): Show c.481-12524_481-12523insATATATATATATATATATATATATAT ATGTGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190007965	C C	CACACATA others(27): Show CACACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp2 HG03209.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0018 a0001c0004 a0002c0018	a0001c0004t0016 a0002c0018t0002 a0001c0004t0016 a0002c0018t0002	a0001c0004t0016g0218 a0002c0018t0002g0302 a0001c0004t0016g0218 a0002c0018t0002g0302	2	304	0.0066	34	c.481 others(53): Show c.481-12524_481-12523insATATATATATATATATATATATATAT ATATGTGT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190041020	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02300.hp2 NA19060.hp1 others(2): Show HG02293.hp1 HG02300.hp2 NA19060.hp1 NA19083.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0154 a0001c0001t0004g0230 a0001c0002t0002g0057 others(2): Show a0001c0001t0001g0154 a0001c0001t0004g0230 a0001c0002t0002g0057 a0001c0002t0003g0227 a0001c0002t0003g0233	5	304	0.0165	34	c.481 others(53): Show c.481-45579_481-45578insTATATATATATATATATATATATATA TATATATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190066158	T T	TATATATA others(27): Show TATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03486.hp2 NA19030.hp1 HG01358.hp2 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0144 a0001c0001t0001g0296 a0001c0001t0007g0098 a0001c0001t0001g0144 a0001c0001t0001g0296 a0001c0001t0007g0098	3	304	0.0099	34	c.480 others(53): Show c.480+54093_480+54094insGTGTGTGTGTGTATATATATATATAT ATATATAT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
PACRGL_chr4_20695458_20737557	20730482	T T	TAGATCAC others(27): Show TAGATCACAGGCCAAATCACACAGACTTTTATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0134 a0001c0001t0042g0134	1	412	0.0024	34	c.31 others(45): Show c.3142_*3175dupAGATCACAGGCCAAATCACACAGACTTTTATACA	PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	9/9	3176	INFO_REALIGN_3_PRIME	chr4	TogoVar
PACRG_chr6_162722974_163320500	162747474	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0082	1	130	0.0077	34	c.156 others(53): Show c.156+19102_156+19103insATATATATATATATATATATATATAT ATATATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162947617	T T	TATATATA others(27): Show TATATATAATCATATATATATATATATATATAATC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	130	0.0077	34	c.292 others(55): Show c.292-114526_292-114525insATCATATATATATATATATATATA ATCATATATA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163319541	T T	TATATATA others(27): Show TATATATACATATATATATATACACATATAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0064 a0001c0002t0010g0064	1	130	0.0077	34	c.45 others(45): Show c.4554_*4555insATATATACATATATATATATACACATATAGAGAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		4042		chr6	TogoVar
PACSIN2_chr22_42864773_43020149	42975457	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG01884.hp1 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0284 a0001c0005t0005g0285 a0001c0005t0005g0284 a0001c0005t0005g0285	2	294	0.0068	34	c.-78 others(53): Show c.-78+39563_-78+39564insATATATATATATATATATATATATAT ATATATAT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI2_chr1_17061761_17124451	17108301	G G	GTGCACGT others(27): Show GTGCACGTGCAGAGGACCTGGGTTTGAGTCTAGTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	356	0.0028	34	c.93- others(49): Show c.93-3274_93-3241dupAACTAGACTCAAACCCAGGTCCTCTGCACG TGCA	PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	1/15			chr1	TogoVar
PADI4_chr1_17303197_17369004	17352038	G G	GGAGAGGC others(27): Show GGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03654.hp2 HG02615.hp2 HG03654.hp2	a0002 a0014 a0002 a0014	a0002c0004 a0014c0017 a0002c0004 a0014c0017	a0002c0004t0001 a0014c0017t0001 a0002c0004t0001 a0014c0017t0001	a0002c0004t0001g0355 a0014c0017t0001g0038 a0002c0004t0001g0355 a0014c0017t0001g0038	2	372	0.0054	34	c.115 others(53): Show c.1156-2463_1156-2430dupGAAGAGAGGCAGTCAGGGAGGTGATG GGAGGTGG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352152	A A	ATCAGGGA others(27): Show ATCAGGGAGGTGATGAGAGGTGGTAGGAGAGGCGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	372	0.0027	34	c.115 others(53): Show c.1156-2371_1156-2338dupTGATGAGAGGTGGTAGGAGAGGCGGT CAGGGAGG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352194	G G	GGAGATGG others(27): Show GGAGATGGGAGGTGGTAAGAGGGGTGGTCAGGGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 NA20752.hp1 HG02486.hp1 HG02647.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0339 a0001c0001t0001g0340 a0002c0002t0001g0271 a0001c0001t0001g0339 a0001c0001t0001g0340 a0002c0002t0001g0271	3	372	0.0081	34	c.115 others(53): Show c.1156-2322_1156-2289dupAGAGGGGTGGTCAGGGAAGAGATGGG AGGTGGTA	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352194	G G	GGTGATGG others(27): Show GGTGATGGGAGGTGGGAGGAGAGGCGGCCAGGGAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	372	0.0027	34	c.115 others(53): Show c.1156-2338_1156-2337insTGATGGGAGGTGGGAGGAGAGGCGGC CAGGGAAG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352218	T T	TGGTCAGG others(27): Show TGGTCAGGGAAGAGATGGGAGGTGGTAGGAGAGGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	372	0.0027	34	c.115 others(53): Show c.1156-2288_1156-2287insGAGAGGCGGTCAGGGAAGAGATGGGA GGTGGTAG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAEP_chr9_135556756_135571955	135566469	C C	CCTCCACT others(27): Show CCTCCACTTCCTCCCTATCTCACTCCAGTAGCTAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	464	0.0022	34	c.1- others(45): Show c.1-84_*1-83insCTCCACTTCCTCCCTATCTCACTCCAGTAGCTAA	PAEP	ENSG00000122133.17	transcript	ENST00000479141.6	protein_coding	6/6			chr9	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	350	0.0029	34	c.125 others(53): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(27): Show ATATATATATATATATATATATATAAAAAAATTAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0093 a0001c0001t0068g0093	1	178	0.0056	34	c.-22 others(53): Show c.-22+11538_-22+11539insTATATATATATATATATATATATAAA AAAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATAAAAATTAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	178	0.0056	34	c.-22 others(53): Show c.-22+11538_-22+11539insTATATATATATATATATATATATATA AAAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATAAATTAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01975.hp1 HG03927.hp1 HG00639.hp2 HG01975.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0058 a0001c0001t0061 a0001c0001t0002 a0001c0001t0058 a0001c0001t0061	a0001c0001t0002g0098 a0001c0001t0058g0099 a0001c0001t0061g0102 a0001c0001t0002g0098 a0001c0001t0058g0099 a0001c0001t0061g0102	3	178	0.0169	34	c.-22 others(53): Show c.-22+11538_-22+11539insTATATATATATATATATATATATATA TAAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK4_chr19_39120786_39184404	39130261	A A	AAGGATGG others(27): Show AAGGATGGGGAAAACCCAGGCAGAGGGGTCAGGGC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	368	0.0027	34	c.-96 others(51): Show c.-96+4354_-96+4355insACCCAGGCAGAGGGGTCAGGGCAGGATG GGGAAA	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALD1_chr10_70473767_70573450	70508843	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00621.hp1 others(34): Show HG00140.hp1 HG00323.hp2 HG00621.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02165.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02895.hp2 HG03139.hp1 HG03834.hp2 HG03942.hp1 HG06807.hp1 NA18939.hp1 NA18950.hp1 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18980.hp2 NA18990.hp1 NA19010.hp1 NA19065.hp2	a0001 a0003 a0008 others(2): Show a0001 a0003 a0008 a0009 a0023	a0001c0001 a0001c0004 a0001c0029 others(4): Show a0001c0001 a0001c0004 a0001c0029 a0003c0003 a0008c0012 a0009c0011 a0023c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 a0001c0001t0022 a0001c0001t0051 a0001c0004t0007 a0001c0004t0014 a0001c0029t0025 a0003c0003t0002 a0008c0012t0008 a0009c0011t0047 a0023c0031t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 others(34): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0245 a0001c0001t0002g0016 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0004g0027 a0001c0001t0011g0261 a0001c0001t0017g0280 a0001c0001t0022g0143 a0001c0001t0051g0025 a0001c0004t0007g0133 a0001c0004t0007g0303 a0001c0004t0014g0179 a0001c0029t0025g0195 a0003c0003t0002g0054 a0008c0012t0008g0127 a0009c0011t0047g0277 a0023c0031t0001g0159	37	308	0.1201	34	c.-29 others(53): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70508854	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01261.hp2 others(1): Show HG00642.hp1 HG00741.hp1 HG01261.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0009 a0004c0005t0013 a0004c0005t0029 a0001c0001t0009 a0004c0005t0013 a0004c0005t0029	a0001c0001t0009g0213 a0004c0005t0013g0271 a0004c0005t0013g0278 others(1): Show a0001c0001t0009g0213 a0004c0005t0013g0271 a0004c0005t0013g0278 a0004c0005t0029g0270	4	308	0.0130	34	c.-29 others(53): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGCGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	156	0.0064	34	c.909 others(53): Show c.909-42672_909-42671insATATATATATATATATATATATATAT ATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168785846	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0092 a0001c0002t0010g0092	1	156	0.0064	34	c.196 others(55): Show c.1964+73954_1964+73955insTATATATATATATATATATATATA TATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03195.hp1 HG03209.hp2 HG02895.hp2 HG03195.hp1 HG03209.hp2	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0004 a0005c0008 a0008c0010 a0002c0004 a0005c0008 a0008c0010	a0002c0004t0002 a0005c0008t0026 a0008c0010t0012 a0002c0004t0002 a0005c0008t0026 a0008c0010t0012	a0002c0004t0002g0216 a0005c0008t0026g0205 a0008c0010t0012g0201 a0002c0004t0002g0216 a0005c0008t0026g0205 a0008c0010t0012g0201	3	222	0.0135	34	c.583 others(53): Show c.583-59616_583-59615insTATATATATATATATATATATATATA TATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	222	0.0045	34	c.583 others(49): Show c.583-962_583-961insAAAAAAAAAAAATATATATATATATATATA TATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0109 a0001c0001t0013g0109	1	222	0.0045	34	c.583 others(49): Show c.583-962_583-961insAAAAAAAAAATATATATATATATATATATA TATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALS1_chr14_67236435_67341061	67284429	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18991.hp1 HG02165.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0179 a0001c0001t0005g0180	2	290	0.0069	34	c.367 others(51): Show c.367+4907_367+4908insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar

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