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
PPP2R2C_chr4_6315581_6477614	6336685	CTCCCTGC others(5): Show CTCCCTGCTTCCA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG02630.hp1 others(3): Show HG01167.hp2 HG01884.hp2 HG02630.hp1 HG02717.hp1 HG02897.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0002t0010 a0001c0003t0005 others(1): Show a0001c0002t0005 a0001c0002t0010 a0001c0003t0005 a0001c0003t0032	a0001c0002t0005g0041 a0001c0002t0010g0064 a0001c0002t0010g0211 others(3): Show a0001c0002t0005g0041 a0001c0002t0010g0064 a0001c0002t0010g0211 a0001c0002t0010g0236 a0001c0003t0005g0059 a0001c0003t0032g0036	6	298	0.0201	-12	c.791 others(29): Show c.791-2966_791-2955delTGGAAGCAGGGA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R2C_chr4_6315581_6477614	6336717	CTCCCTCC others(5): Show CTCCCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0040 a0001c0002t0013g0040	1	298	0.0034	-12	c.791 others(29): Show c.791-2998_791-2987delAGGAGGGAGGGA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R2C_chr4_6315581_6477614	6337108	GTGTGTAT others(5): Show GTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0287 a0001c0001t0004g0287	1	298	0.0034	-12	c.791 others(29): Show c.791-3389_791-3378delTATATATACACA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R2C_chr4_6315581_6477614	6337110	GTGTATAT others(5): Show GTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20300.hp1 HG03139.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0195 a0001c0002t0008g0206 a0001c0002t0008g0195 a0001c0002t0008g0206	2	298	0.0067	-12	c.791 others(29): Show c.791-3391_791-3380delTATATATATACA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R2C_chr4_6315581_6477614	6342081	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03704.hp1 HG06807.hp2 others(1): Show HG03139.hp2 HG03704.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0008 a0001c0003t0047 a0001c0001t0001 a0001c0002t0008 a0001c0003t0047	a0001c0001t0001g0167 a0001c0002t0008g0195 a0001c0002t0008g0206 others(1): Show a0001c0001t0001g0167 a0001c0002t0008g0195 a0001c0002t0008g0206 a0001c0003t0047g0263	4	298	0.0134	-12	c.790 others(29): Show c.790+5753_790+5764delGTGTGTGTGTGT	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R2C_chr4_6315581_6477614	6342117	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp2 NA18522.hp2 HG02965.hp2 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0016 a0001c0002t0013 a0001c0001t0002 a0001c0001t0016 a0001c0002t0013	a0001c0001t0002g0038 a0001c0001t0016g0247 a0001c0002t0013g0040 a0001c0001t0002g0038 a0001c0001t0016g0247 a0001c0002t0013g0040	3	298	0.0101	-12	c.790 others(29): Show c.790+5717_790+5728delATGTGTGTGTGT	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	6/8			chr4	TogoVar
PPP2R2C_chr4_6315581_6477614	6382622	TTCTCTCT others(5): Show TTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02630.hp2 HG03041.hp2 others(1): Show HG01993.hp2 HG02630.hp2 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0017 a0001c0002t0008 a0001c0001t0009 a0001c0001t0017 a0001c0002t0008	a0001c0001t0009g0014 a0001c0001t0009g0062 a0001c0001t0017g0081 others(1): Show a0001c0001t0009g0014 a0001c0001t0009g0062 a0001c0001t0017g0081 a0001c0002t0008g0237	4	298	0.0134	-12	c.71- others(27): Show c.71-1540_71-1529delGAGAGAGAGAGA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	1/8			chr4	TogoVar
PPP2R2C_chr4_6315581_6477614	6382665	TCTCTCTC others(5): Show TCTCTCTCTCTCA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	298	0.0034	-12	c.71- others(27): Show c.71-1583_71-1572delTGAGAGAGAGAG	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	1/8			chr4	TogoVar
PPP2R2C_chr4_6315581_6477614	6410840	GTTTTATT others(5): Show GTTTTATTTATTT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0244 a0001c0002t0044g0244	1	298	0.0034	-12	c.71- others(29): Show c.71-29758_71-29747delAAATAAATAAAA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	1/8			chr4	TogoVar
PPP2R2C_chr4_6315581_6477614	6410841	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02965.hp2 HG02970.hp1 others(3): Show HG02145.hp2 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0013 a0001c0001t0002 a0001c0002t0003 a0001c0002t0013	a0001c0001t0002g0032 a0001c0001t0002g0038 a0001c0001t0002g0124 others(3): Show a0001c0001t0002g0032 a0001c0001t0002g0038 a0001c0001t0002g0124 a0001c0002t0003g0050 a0001c0002t0003g0061 a0001c0002t0013g0040	6	298	0.0201	-12	c.71- others(29): Show c.71-29759_71-29748delTAAATAAATAAA	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	1/8			chr4	TogoVar
PPP2R2D_chr10_131896008_131964834	131901020	CCGGCGGC others(5): Show CCGGCGGCGGCGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02135.hp1 NA18948.hp1 HG02135.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0037 a0001c0001t0036 a0001c0001t0037	a0001c0001t0036g0048 a0001c0001t0037g0099 a0001c0001t0036g0048 a0001c0001t0037g0099	2	394	0.0051	-12	c.-11 others(21): Show c.-114_-103delGCGGCGGCGGCG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	1/9	103	INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R3A_chr3_135960728_136152894	136013180	GTGTATGT others(5): Show GTGTATGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0024 a0006c0006t0001g0024	1	238	0.0042	-12	c.199 others(31): Show c.1995+9725_1995+9736delGTATGTATGTAT	PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3A_chr3_135960728_136152894	136030774	ATATATAT others(5): Show ATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp2 HG02258.hp1 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0108 a0002c0002t0002g0138 a0002c0002t0002g0108 a0002c0002t0002g0138	2	238	0.0084	-12	c.226 others(31): Show c.2262+3680_2262+3691delATATGTATGTAT	PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3A_chr3_135960728_136152894	136030778	ATATGTAT others(5): Show ATATGTATGTATG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0106 a0002c0002t0011g0106	1	238	0.0042	-12	c.226 others(31): Show c.2262+3716_2262+3727delGTATGTATGTAT	PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3A_chr3_135960728_136152894	136044992	ACACAACC others(5): Show ACACAACCATAGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	238	0.0042	-12	c.236 others(31): Show c.2366+4034_2366+4045delAACCATAGGCAC	PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3A_chr3_135960728_136152894	136138695	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02630.hp2 HG02896.hp2 others(3): Show HG02523.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 HG03516.hp2 NA18989.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0017 a0002c0002 a0007c0008 a0001c0017 a0002c0002 a0007c0008	a0001c0017t0001 a0002c0002t0002 a0007c0008t0001 a0001c0017t0001 a0002c0002t0002 a0007c0008t0001	a0001c0017t0001g0183 a0002c0002t0002g0078 a0007c0008t0001g0212 others(3): Show a0001c0017t0001g0183 a0002c0002t0002g0078 a0007c0008t0001g0212 a0007c0008t0001g0231 a0007c0008t0001g0232 a0007c0008t0001g0233	6	238	0.0252	-12	c.333 others(31): Show c.3330-6324_3330-6313delTTTTTTTTTTTT	PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3B_chrX_328933_391907	328952	CCCCCCTC others(5): Show CCCCCCTCCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 NA18994.hp1 NA19086.hp1 HG01255.hp2 NA18994.hp1 NA19086.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0002c0008 a0006c0010 a0002c0002 a0002c0008 a0006c0010	a0002c0002t0002 a0002c0008t0002 a0006c0010t0011 a0002c0002t0002 a0002c0008t0002 a0006c0010t0011	a0002c0002t0002g0010 a0002c0008t0002g0007 a0006c0010t0011g0002 a0002c0002t0002g0010 a0002c0008t0002g0007 a0006c0010t0011g0002	3	25	0.1200	-12	c.54 others(23): Show c.5403_*5414delAGGGGGAGGGGG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding		4980		chrX	TogoVar
PPP2R3B_chrX_328933_391907	341518	CCCTCCTG others(5): Show CCCTCCTGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0011 a0002c0003t0003g0011	1	25	0.0400	-12	c.108 others(29): Show c.1086-134_1086-123delAGGGGCAGGAGG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	8/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	383837	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0011 a0006c0010t0011	a0006c0010t0011g0002 a0006c0010t0011g0002	1	25	0.0400	-12	c.324 others(29): Show c.324+2519_324+2530delTTTTTTTTTTTT	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PPP2R3C_chr14_35080472_35126990	35124492	TGCTGAGA others(5): Show TGCTGAGAATCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	378	0.0027	-12	c.-25 others(23): Show c.-2545_-2534delGTGATTCTCAGC	PPP2R3C	ENSG00000092020.11	transcript	ENST00000261475.10	protein_coding		2503		chr14	TogoVar
PPP2R5A_chr1_212280410_212366853	212297096	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	384	0.0026	-12	c.181 others(31): Show c.181+10836_181+10847delTTTTTTTTTTTT	PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP2R5A_chr1_212280410_212366853	212297127	TTTTTTTT others(5): Show TTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02976.hp2 HG03195.hp1 others(1): Show HG02257.hp2 HG02976.hp2 HG03195.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002	a0001c0001t0004g0358 a0001c0001t0005g0345 a0001c0001t0005g0346 others(1): Show a0001c0001t0004g0358 a0001c0001t0005g0345 a0001c0001t0005g0346 a0001c0002t0002g0124	4	384	0.0104	-12	c.181 others(31): Show c.181+10837_181+10848delTTTTTTTTTTTG	PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	1/12			chr1	TogoVar
PPP2R5A_chr1_212280410_212366853	212319618	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0337 a0001c0001t0005g0337	1	384	0.0026	-12	c.182 others(29): Show c.182-9509_182-9498delTTTTTTTTTTTT	PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP2R5A_chr1_212280410_212366853	212322755	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp2 NA19043.hp1 HG02559.hp2 HG02965.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0364 a0001c0001t0004g0014 a0001c0001t0004g0364	3	384	0.0078	-12	c.182 others(29): Show c.182-6352_182-6341delATTTATTTATTT	PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP2R5A_chr1_212280410_212366853	212363028	CTTTATTT others(5): Show CTTTATTTATTTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02135.hp1 HG02165.hp2 HG02015.hp1 HG02135.hp1 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0125 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0125	3	384	0.0078	-12	c.22 others(23): Show c.2259_*2270delTTTATTTATTTA	PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding		1176		chr1	TogoVar
PPP2R5C_chr14_101756709_101932977	101761687	TGCCGCCG others(5): Show TGCCGCCGCCGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0112 a0001c0003t0002g0112	1	138	0.0073	-12	c.-20 others(21): Show c.-206_-195delGCCGCCGCCGCC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding		21		chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101782500	CTCTCTTT others(5): Show CTCTCTTTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0122 a0001c0001t0009g0122	1	138	0.0073	-12	c.94- others(27): Show c.94-3516_94-3505delCTCTTTCCTCTT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101787403	TATGGGTG others(5): Show TATGGGTGGGTGG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0122 a0001c0001t0009g0122	1	138	0.0073	-12	c.259 others(29): Show c.259+1235_259+1246delGGGTGGGTGGAT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101821444	GGTGGGTG others(5): Show GGTGGGTGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	138	0.0073	-12	c.260 others(31): Show c.260-35238_260-35227delGGTGGGTGTGTG	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101821452	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	138	0.0073	-12	c.260 others(31): Show c.260-35213_260-35202delGTGTGTGTGTGT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101921054	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02717.hp1 others(4): Show HG02451.hp2 HG02572.hp1 HG02717.hp1 HG02886.hp2 HG03453.hp1 HG03579.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0002 a0001c0003t0020 others(1): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0020 a0002c0002t0008	a0001c0001t0002g0068 a0001c0001t0002g0095 a0001c0001t0002g0114 others(4): Show a0001c0001t0002g0068 a0001c0001t0002g0095 a0001c0001t0002g0114 a0001c0003t0002g0128 a0001c0003t0020g0008 a0002c0002t0008g0009 a0002c0002t0008g0010	7	138	0.0507	-12	c.160 others(31): Show c.1608+3127_1608+3138delTTTTTTTTTTTT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5D_chr6_42979570_43017342	42998015	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	306	0.0033	-12	c.105 others(29): Show c.105+8359_105+8370delATATATATATAT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	42998055	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	306	0.0033	-12	c.105 others(29): Show c.105+8369_105+8380delATTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	42998057	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	306	0.0033	-12	c.106 others(29): Show c.106-8382_106-8371delTTTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	43002452	CGTGCCTG others(5): Show CGTGCCTGGCCTA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02559.hp2 others(4): Show HG01891.hp1 HG02109.hp2 HG02559.hp2 HG03130.hp1 HG03540.hp1 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0242 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278	7	306	0.0229	-12	c.106 others(29): Show c.106-4008_106-3997delGCCTGGCCTAGT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	43011742	CAGAGTAG others(5): Show CAGAGTAGCTGAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01099.hp1 HG01109.hp2 others(3): Show HG01069.hp1 HG01099.hp1 HG01109.hp2 HG01358.hp2 HG03704.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0075 a0001c0001t0003g0080 others(3): Show a0001c0001t0003g0027 a0001c0001t0003g0075 a0001c0001t0003g0080 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089	6	306	0.0196	-12	c.45 others(21): Show c.457_*468delAGAGTAGCTGAA	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	16/16	457		chr6	TogoVar
PPP2R5E_chr14_63366364_63548377	63390295	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18944.hp2 HG01175.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0209 a0001c0001t0006g0213 a0001c0001t0006g0209 a0001c0001t0006g0213	2	252	0.0079	-12	c.955 others(27): Show c.955-576_955-565delGTGTGTGTGTGT	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	10/13			chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63399366	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01192.hp1 HG02056.hp2 others(15): Show HG00423.hp2 HG01192.hp1 HG02056.hp2 HG02148.hp1 HG02155.hp1 NA18945.hp1 NA18950.hp2 NA18953.hp2 NA18961.hp2 NA18962.hp1 NA18968.hp2 NA18984.hp2 NA19002.hp1 NA19010.hp1 NA19066.hp2 NA19084.hp1 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0020 others(2): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0020 a0001c0001t0030 a0001c0001t0031	a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0005g0024 others(15): Show a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0095 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0012g0094 a0001c0001t0012g0112 a0001c0001t0012g0113 a0001c0001t0020g0101 a0001c0001t0020g0102 a0001c0001t0030g0189 a0001c0001t0030g0191 a0001c0001t0031g0199 a0001c0001t0031g0212	18	252	0.0714	-12	c.550 others(29): Show c.550-2662_550-2651delAAAAAAAAAAAA	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	5/13			chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63421052	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0164 a0001c0001t0006g0164	1	252	0.0040	-12	c.456 others(27): Show c.456+929_456+940delTTTTTTTTTTTT	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	4/13			chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63430373	GCATGCAT others(5): Show GCATGCATACATA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	252	0.0040	-12	c.355 others(29): Show c.355-8291_355-8280delTATGTATGCATG	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	3/13			chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63465465	AAAAAAAA others(5): Show AAAAAAAAACAAC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0049 a0001c0001t0040g0049	1	252	0.0040	-12	c.158 others(31): Show c.158-11592_158-11581delGTTGTTTTTTTT	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	2/13			chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63467227	AAAACAAA others(5): Show AAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0069 a0001c0001t0008g0069	1	252	0.0040	-12	c.158 others(31): Show c.158-13354_158-13343delGTTTGTTTGTTT	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	2/13			chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63509267	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0075 a0001c0002t0037g0075	1	252	0.0040	-12	c.157 others(31): Show c.157+30250_157+30261delAAAAAAAAAAAA	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	2/13			chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63546072	CACTGTTG others(5): Show CACTGTTGTTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG02132.hp2 others(20): Show HG00423.hp2 HG00438.hp1 HG02132.hp2 HG02486.hp2 HG02572.hp1 HG02922.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG03654.hp1 NA18943.hp1 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18962.hp1 NA18999.hp1 NA19005.hp1 NA19010.hp1 NA19043.hp2 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0056	a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0022 others(20): Show a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0045 a0001c0001t0004g0015 a0001c0001t0004g0047 a0001c0001t0004g0107 a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0007g0046 a0001c0001t0011g0017 a0001c0001t0017g0012 a0001c0001t0038g0044 a0001c0001t0040g0049 a0001c0001t0041g0032 a0001c0001t0043g0014 a0001c0001t0047g0030 a0001c0001t0056g0028	23	252	0.0913	-12	c.-33 others(23): Show c.-3313_-3302delAACAACAACAGT	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding		2696		chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63546074	CTGTTGTT others(5): Show CTGTTGTTGTTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01175.hp1 others(24): Show HG00597.hp1 HG00621.hp2 HG01175.hp1 HG02056.hp2 HG02155.hp1 HG02257.hp2 HG02523.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 NA18522.hp1 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp2 NA18964.hp2 NA18982.hp1 NA18984.hp2 NA18999.hp2 NA19002.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19074.hp2 NA19078.hp1 NA19084.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0033 a0001c0001t0046 a0001c0001t0072 a0001c0001t0074 a0001c0001t0082 a0001c0001t0086	a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0105 others(24): Show a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0004g0099 a0001c0001t0004g0104 a0001c0001t0004g0108 a0001c0001t0004g0114 a0001c0001t0005g0097 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0006g0209 a0001c0001t0006g0227 a0001c0001t0008g0103 a0001c0001t0010g0166 a0001c0001t0012g0094 a0001c0001t0012g0112 a0001c0001t0012g0113 a0001c0001t0020g0101 a0001c0001t0020g0102 a0001c0001t0033g0002 a0001c0001t0046g0098 a0001c0001t0072g0237 a0001c0001t0074g0242 a0001c0001t0082g0245 a0001c0001t0086g0239	27	252	0.1071	-12	c.-33 others(23): Show c.-3315_-3304delACAACAACAACA	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding		2698		chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101073228	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG00735.hp2 others(20): Show HG00323.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01123.hp2 HG01433.hp2 HG01496.hp2 HG02055.hp2 HG02165.hp1 HG02735.hp1 HG02738.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03669.hp2 HG03942.hp2 NA18522.hp1 NA18906.hp1 NA18961.hp2 NA18981.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(12): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0042 a0001c0001t0047 a0001c0001t0061 a0001c0001t0064 a0001c0001t0072 a0001c0002t0021 a0001c0002t0074	a0001c0001t0002g0055 a0001c0001t0008g0139 a0001c0001t0008g0147 others(20): Show a0001c0001t0002g0055 a0001c0001t0008g0139 a0001c0001t0008g0147 a0001c0001t0008g0154 a0001c0001t0008g0174 a0001c0001t0008g0187 a0001c0001t0010g0026 a0001c0001t0010g0046 a0001c0001t0010g0058 a0001c0001t0010g0070 a0001c0001t0011g0099 a0001c0001t0011g0100 a0001c0001t0016g0061 a0001c0001t0027g0002 a0001c0001t0031g0006 a0001c0001t0032g0008 a0001c0001t0042g0045 a0001c0001t0047g0048 a0001c0001t0061g0157 a0001c0001t0064g0167 a0001c0001t0072g0190 a0001c0002t0021g0085 a0001c0002t0074g0192	23	192	0.1198	-12	c.955 others(29): Show c.955+7292_955+7303delACACACACACAC	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	8/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101091821	CTAATAAT others(5): Show CTAATAATAATAA	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	192	0.0052	-12	c.782 others(29): Show c.782+1943_782+1954delTTATTATTATTA	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	6/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101099398	CTTCAATC others(5): Show CTTCAATCACTTT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0185 a0001c0001t0063g0185	1	192	0.0052	-12	c.496 others(27): Show c.496+201_496+212delAAAGTGATTGAA	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	4/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101124717	GAAAGAAA others(5): Show GAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02129.hp1 HG03195.hp1 others(4): Show HG02109.hp2 HG02129.hp1 HG03195.hp1 NA18906.hp1 NA18945.hp1 NA18973.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0023	a0001c0001t0001g0119 a0001c0001t0002g0038 a0001c0001t0002g0039 others(4): Show a0001c0001t0001g0119 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0005g0173 a0001c0001t0008g0174 a0001c0001t0011g0100 a0001c0001t0023g0112	7	192	0.0365	-12	c.260 others(31): Show c.260-15651_260-15640delTTCTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101124721	GAAAGAGA others(5): Show GAAAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG04115.hp2 NA18962.hp1 others(1): Show HG01168.hp2 HG04115.hp2 NA18962.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0005 a0001c0001t0002 a0002c0005t0005	a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0001t0002g0083 others(1): Show a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0001t0002g0083 a0002c0005t0005g0152	4	192	0.0208	-12	c.260 others(31): Show c.260-15655_260-15644delTTCTTTCTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13			chr4	TogoVar

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