Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PAK2_chr3_196734857_196837647	196735294	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	178	0.0056	32	c.-48 others(43): Show c.-4885_-4884insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		4562		chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(25): Show ATATATATATATATATATATATATAAAAATTAC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	178	0.0056	32	c.-22 others(51): Show c.-22+11538_-22+11539insTATATATATATATATATATATATAAA AATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATAAATTAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03942.hp1 HG00642.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0067 a0001c0001t0002 a0001c0001t0067	a0001c0001t0002g0111 a0001c0001t0067g0055 a0001c0001t0002g0111 a0001c0001t0067g0055	2	178	0.0112	32	c.-22 others(51): Show c.-22+11538_-22+11539insTATATATATATATATATATATATATA AATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196805865	G G	GGAGTTTT others(25): Show GGAGTTTTATTTTTTTATATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	178	0.0056	32	c.468 others(47): Show c.468+483_468+514dupGAGTTTTATTTTTTTATATTTTATTTTATT TT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833491	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0117 a0001c0001t0043g0117	1	178	0.0056	32	c.50 others(43): Show c.5086_*5087insTATATATATATATATATATATATATATTTATT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		845		chr3	TogoVar
PALD1_chr10_70473767_70573450	70488873	T T	TCTGCTGC others(25): Show TCTGCTGCTGGGGGTCTGGGTGGATGTATCCTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp2 HG02717.hp1 others(2): Show HG00733.hp1 HG01243.hp2 HG02717.hp1 HG03139.hp1 HG03471.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0020 a0001c0001 a0019c0020	a0001c0001t0001 a0001c0001t0013 a0001c0001t0025 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0025 a0001c0001t0038 a0019c0020t0009	a0001c0001t0001g0245 a0001c0001t0013g0257 a0001c0001t0025g0247 others(2): Show a0001c0001t0001g0245 a0001c0001t0013g0257 a0001c0001t0025g0247 a0001c0001t0038g0305 a0019c0020t0009g0161	5	308	0.0162	32	c.-30 others(49): Show c.-30+9849_-30+9880dupGCTGCTGGGGGTCTGGGTGGATGTATCC TCCT	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70508843	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01081.hp2 others(24): Show HG00733.hp2 HG01070.hp1 HG01081.hp2 HG01256.hp2 HG01884.hp1 HG01891.hp2 HG02818.hp2 HG02886.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18970.hp1 NA19007.hp1 NA20129.hp2 NA20905.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0012 a0021	a0001c0001 a0001c0004 a0003c0003 others(4): Show a0001c0001 a0001c0004 a0003c0003 a0004c0005 a0004c0032 a0012c0018 a0021c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0041 a0001c0004t0010 a0003c0003t0003 a0004c0005t0009 a0004c0032t0015 a0012c0018t0009 a0021c0030t0026	a0001c0001t0001g0035 a0001c0001t0001g0134 a0001c0001t0001g0138 others(24): Show a0001c0001t0001g0035 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0002g0018 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0290 a0001c0001t0003g0252 a0001c0001t0004g0194 a0001c0001t0007g0192 a0001c0001t0007g0285 a0001c0001t0008g0123 a0001c0001t0012g0258 a0001c0001t0013g0257 a0001c0001t0015g0279 a0001c0001t0017g0282 a0001c0001t0023g0205 a0001c0001t0023g0207 a0001c0001t0027g0223 a0001c0001t0028g0237 a0001c0001t0041g0276 a0001c0004t0010g0293 a0003c0003t0003g0043 a0004c0005t0009g0248 a0004c0032t0015g0275 a0012c0018t0009g0214 a0021c0030t0026g0189	27	308	0.0877	32	c.-29 others(51): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	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(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA20905.hp1 HG00323.hp1 NA20905.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0130 a0004c0005t0005g0302 a0004c0005t0005g0130 a0004c0005t0005g0302	2	308	0.0065	32	c.-29 others(51): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG TGCGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168625500	G G	GAGATAGA others(25): Show GAGATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA21309.hp2 HG04115.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0004 a0001c0001t0002 a0002c0003t0004	a0001c0001t0002g0112 a0002c0003t0004g0041 a0001c0001t0002g0112 a0002c0003t0004g0041	2	156	0.0128	32	c.909 others(51): Show c.909-42685_909-42684insGATAGATAGATAGATAGATAGATAGA TAGATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATAGATA others(25): Show GATAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02683.hp2 HG02896.hp2 others(1): Show HG00642.hp1 HG02683.hp2 HG02896.hp2 HG03516.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0015 others(1): Show a0001c0001 a0001c0002 a0002c0015 a0004c0024	a0001c0001t0008 a0001c0002t0010 a0002c0015t0016 others(1): Show a0001c0001t0008 a0001c0002t0010 a0002c0015t0016 a0004c0024t0003	a0001c0001t0008g0006 a0001c0002t0010g0106 a0002c0015t0016g0035 others(1): Show a0001c0001t0008g0006 a0001c0002t0010g0106 a0002c0015t0016g0035 a0004c0024t0003g0014	4	156	0.0256	32	c.909 others(51): Show c.909-42685_909-42684insGATATATATATATATATATATATATA TATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp1 HG02976.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0007 a0001c0002t0006 a0001c0002t0007	a0001c0002t0006g0090 a0001c0002t0007g0050 a0001c0002t0006g0090 a0001c0002t0007g0050	2	156	0.0128	32	c.909 others(51): Show c.909-42672_909-42671insATATATATATATATATATATATATAT ATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110006320	C C	CTATCTTT others(25): Show CTATCTTTCTTTCTTTCTTTCTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG02451.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0202 a0001c0007t0001g0166 a0001c0001t0001g0202 a0001c0007t0001g0166	2	222	0.0090	32	c.497 others(49): Show c.497-9634_497-9633insTATCTTTCTTTCTTTCTTTCTTTCTTTT CTTT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10			chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03098.hp2 HG03471.hp2 others(2): Show HG02486.hp1 HG03098.hp2 HG03471.hp2 NA18522.hp1 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0006 a0003c0003 others(1): Show a0001c0001 a0001c0006 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0006t0024 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0006t0024 a0003c0003t0001 a0004c0005t0005	a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0006t0024g0188 others(2): Show a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0006t0024g0188 a0003c0003t0001g0001 a0004c0005t0005g0148	5	222	0.0225	32	c.583 others(51): Show c.583-59616_583-59615insTATATATATATATATATATATATATA TATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110096426	A A	AATTTATT others(25): Show AATTTATTTATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0164 a0003c0003t0001g0164	1	222	0.0045	32	c.583 others(51): Show c.583-39678_583-39677insTATTTATTTATTTATTTATTTATTTA TTTATT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110100051	C C	CTATATAT others(25): Show CTATATATATATATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	222	0.0045	32	c.583 others(51): Show c.583-36060_583-36059insCATATATATATATATATATATATATA TATATA	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(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02965.hp1 HG03471.hp2 others(1): Show HG01175.hp1 HG02965.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0161 a0001c0001t0001g0204 a0001c0001t0002g0096 others(1): Show a0001c0001t0001g0161 a0001c0001t0001g0204 a0001c0001t0002g0096 a0001c0001t0011g0162	4	222	0.0180	32	c.583 others(47): Show c.583-962_583-961insAAAAAAAAAAAATATATATATATATATATA TA	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(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0069 a0001c0001t0009g0069	1	222	0.0045	32	c.583 others(47): Show c.583-962_583-961insAAAAAAAAAATATATATATATATATATATA TA	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(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0068 a0001c0001t0009g0068	1	222	0.0045	32	c.583 others(47): Show c.583-962_583-961insAAAAAAAATATATATATATATATATATATA TA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	222	0.0045	32	c.583 others(47): Show c.583-962_583-961insAAAATATATATATATATATATATATATATA TA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALS1_chr14_67236435_67341061	67280853	T T	TTCCTTCC others(25): Show TTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0129 a0004c0008t0003g0129	1	290	0.0035	32	c.367 others(49): Show c.367+1319_367+1320insTTCCTTCCTTCCTTCCTTCCCTCCCTCC CTCC	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS1_chr14_67236435_67341061	67284429	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19005.hp2 HG00673.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0178 a0001c0001t0005g0276 a0001c0001t0005g0178 a0001c0001t0005g0276	2	290	0.0069	32	c.367 others(49): Show c.367+4907_367+4908insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0325 a0001c0002t0007g0325	1	378	0.0027	32	c.118 others(49): Show c.118-3368_118-3367insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PAM_chr5_102750305_103034716	102779918	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0004 a0007c0010t0004	a0007c0010t0004g0094 a0007c0010t0004g0094	1	188	0.0053	32	c.-37 others(53): Show c.-374+24571_-374+24572insTATATATATATATATATATATATA CACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102874552	T T	TTTATAAA others(25): Show TTTATAAAAAATGAGAAACAGATTTTTTATTTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	188	0.0053	32	c.210 others(49): Show c.210+7171_210+7202dupGAGAAACAGATTTTTTATTTCTTATAAA AAAT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102885094	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02895.hp1 HG02897.hp2 others(5): Show HG02074.hp1 HG02895.hp1 HG02897.hp2 NA18747.hp1 NA18906.hp2 NA18950.hp1 NA18951.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0001g0105 others(5): Show a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0182	8	188	0.0426	32	c.211 others(51): Show c.211-16261_211-16260insTATATATATATATATATATATATATA TATAAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAN3_chr13_28133545_28300335	28241908	T T	TGACATAT others(25): Show TGACATATGTTTTATTAATTTCTAATCTAAATC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0239 a0001c0001t0026g0239	1	252	0.0040	32	c.100 others(53): Show c.1001-14383_1001-14352dupGACATATGTTTTATTAATTTCTAA TCTAAATC	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0285 a0001c0001t0020g0285	1	416	0.0024	32	c.635 others(47): Show c.635+144_635+145insATATATATATATATATATATATATATATTT TT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03710.hp2 NA19066.hp2 HG01069.hp1 HG03710.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0323 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0323	3	416	0.0072	32	c.635 others(47): Show c.635+144_635+145insATATATATATATATATATATATATATATAT AT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PAPPA2_chr1_176458175_176850601	176623758	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	118	0.0085	32	c.199 others(53): Show c.1991+28166_1991+28167insCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTT	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(25): Show ATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	372	0.0027	32	c.28- others(47): Show c.28-3087_28-3086insATATATATATATATATATATATGTGTGTGT GT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(25): Show ATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02572.hp2 NA19068.hp2 HG02056.hp1 HG02572.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0019 a0001c0003t0002 a0001c0001t0004 a0001c0001t0019 a0001c0003t0002	a0001c0001t0004g0242 a0001c0001t0019g0166 a0001c0003t0002g0259 a0001c0001t0004g0242 a0001c0001t0019g0166 a0001c0003t0002g0259	3	372	0.0081	32	c.28- others(47): Show c.28-3087_28-3086insATATATATATATATATATATGTGTGTGTGT GT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(25): Show ATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01074.hp2 HG01884.hp2 others(2): Show HG00609.hp1 HG01074.hp2 HG01884.hp2 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0019	a0001c0001t0001g0277 a0001c0001t0004g0279 a0001c0001t0009g0221 others(2): Show a0001c0001t0001g0277 a0001c0001t0004g0279 a0001c0001t0009g0221 a0001c0001t0009g0222 a0001c0001t0019g0165	5	372	0.0134	32	c.28- others(47): Show c.28-3087_28-3086insATATATATATATATATATGTGTGTGTGTGT GT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(25): Show ATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	372	0.0027	32	c.28- others(47): Show c.28-3087_28-3086insATATATATATATATATGTGTGTGTGTGTGT GT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG02056.hp2 others(10): Show HG00544.hp1 HG00621.hp2 HG02056.hp2 HG02074.hp1 NA18988.hp1 NA18998.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19078.hp2 NA19082.hp2 NA19088.hp2 NA19091.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0009 a0008c0008 a0001c0001 a0006c0009 a0008c0008	a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 others(3): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0027 a0006c0009t0003 a0008c0008t0003	a0001c0001t0003g0056 a0001c0001t0003g0096 a0001c0001t0003g0132 others(10): Show a0001c0001t0003g0056 a0001c0001t0003g0096 a0001c0001t0003g0132 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0003g0243 a0001c0001t0003g0251 a0001c0001t0008g0324 a0001c0001t0008g0357 a0001c0001t0012g0189 a0001c0001t0027g0027 a0006c0009t0003g0141 a0008c0008t0003g0128	13	372	0.0350	32	c.381 others(45): Show c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87724851	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0014 a0005c0012t0014	a0005c0012t0014g0227 a0005c0012t0014g0227	1	372	0.0027	32	c.881 others(49): Show c.881-2412_881-2411insCACACACACACACACACACACACACACA CACA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300933	C C	CTCTTTCT others(25): Show CTCTTTCTTTCCTTCTTTCTTTCTTCCTTTCTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	284	0.0035	32	c.-27 others(51): Show c.-277+1880_-277+1881insTTCTTTCCTTCTTTCTTTCTTCCTTT CTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300933	C C	CTCTTTCT others(25): Show CTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	284	0.0035	32	c.-27 others(51): Show c.-277+1880_-277+1881insTTCTTTCCTTCTTTCTTTCTTTCTTT CTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300937	C C	CTCTTTCC others(25): Show CTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA19074.hp2 HG01993.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0150 a0002c0002t0002g0223 a0002c0002t0002g0150 a0002c0002t0002g0223	2	284	0.0070	32	c.-27 others(51): Show c.-277+1887_-277+1888insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300948	C C	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03225.hp2 HG02630.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0144 a0001c0001t0018g0214 a0001c0001t0002g0144 a0001c0001t0018g0214	2	284	0.0070	32	c.-27 others(51): Show c.-277+1909_-277+1910insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300961	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	284	0.0035	32	c.-27 others(51): Show c.-277+1936_-277+1937insCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322751	A A	AGAAGAAG others(25): Show AGAAGAAGAAGAGGAGAAGAAGAAGAAGATGAG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	284	0.0035	32	c.-27 others(53): Show c.-276-14579_-276-14578insGGAGAAGAAGAAGAAGATGAGGAA GAAGAAGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	204883405	T T	TTATATAT others(25): Show TTATATATATATAATATATATATATATAAAATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0052 a0012c0023t0001g0052	1	54	0.0185	32	c.223 others(51): Show c.223-81734_223-81703dupATATATATATATATAAAATATATATA TATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204899256	C C	CCCTCCCT others(25): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0051 a0001c0004t0021g0051	1	54	0.0185	32	c.223 others(51): Show c.223-65893_223-65892insCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204899256	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0019 a0002c0001t0002g0019	1	54	0.0185	32	c.223 others(51): Show c.223-65873_223-65872insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205035811	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATAGTGGGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0011 a0006c0014t0001g0011	1	54	0.0185	32	c.395 others(51): Show c.395-11761_395-11760insATATATATATATATATAGTGGGCTAT ATATAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205036272	T T	TAAATATA others(25): Show TAAATATATGTATATAGTGGGCTATATATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0045 a0003c0005t0005g0045	1	54	0.0185	32	c.395 others(51): Show c.395-11242_395-11211dupATATATGTATATAGTGGGCTATATAT ATAAAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205057607	G G	GTATGTGT others(25): Show GTATGTGTATGTGTATACGTATATATATACATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02622.hp1 others(8): Show HG02145.hp1 HG02257.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0002 a0001c0004 a0001c0008 others(4): Show a0001c0002 a0001c0004 a0001c0008 a0001c0022 a0003c0009 a0007c0028 a0008c0007	a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 others(7): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0004t0014 a0001c0008t0001 a0001c0022t0018 a0003c0009t0009 a0007c0028t0003 a0008c0007t0001 a0008c0007t0005	a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0004g0029 others(8): Show a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0004g0029 a0001c0002t0013g0022 a0001c0004t0014g0016 a0001c0008t0001g0054 a0001c0022t0018g0020 a0003c0009t0009g0039 a0007c0028t0003g0007 a0008c0007t0001g0026 a0008c0007t0005g0040	11	54	0.2037	32	c.504 others(49): Show c.504+9938_504+9969dupTATATATACATATATGTGTATGTGTATA CGTA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205383113	T T	TAGATAGA others(25): Show TAGATAGATAGATAGATAGATAGATAGATAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0028 a0001c0008t0004g0028	1	54	0.0185	32	c.263 others(53): Show c.2631-17872_2631-17871insAGAGAGATAGATAGATAGATAGAT AGATAGAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34605543	A A	ATATATAT others(25): Show ATATATATCTCCTATATATATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0080 a0001c0003t0022g0080	1	100	0.0100	32	c.223 others(51): Show c.223-88385_223-88384insGGAGATATATATATATATATAGGAGA TATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34605988	A A	ATATATCT others(25): Show ATATATCTCCTATATATATATATCTCCTATATC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG03130.hp1 others(1): Show HG02559.hp2 HG02723.hp2 HG03130.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0007 a0001c0001t0002 a0001c0001t0003 a0001c0002t0007	a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0003g0078 others(1): Show a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0003g0078 a0001c0002t0007g0031	4	100	0.0400	32	c.223 others(51): Show c.223-88861_223-88830dupGATATAGGAGATATATATATATAGGA GATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar

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