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
PRKG2_chr4_81082375_81220222	81093360	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02486.hp1 HG02572.hp2 others(3): Show HG01099.hp2 HG02486.hp1 HG02572.hp2 HG02895.hp1 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0004g0082 a0001c0001t0004g0184 a0001c0001t0004g0190 others(3): Show a0001c0001t0004g0082 a0001c0001t0004g0184 a0001c0001t0004g0190 a0001c0001t0004g0226 a0001c0001t0004g0240 a0001c0003t0001g0113	6	250	0.0240	-12	c.212 others(29): Show c.2127-920_2127-909delGTGTGTGTGTGT	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding	17/18			chr4	TogoVar
PRKG2_chr4_81082375_81220222	81158914	GATCCCTT others(5): Show GATCCCTTCCTTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02559.hp1 others(24): Show HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0026 a0001c0001t0001g0186 a0001c0001t0001g0202 others(23): Show a0001c0001t0001g0026 a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0001g0233 a0001c0001t0002g0003 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0077 a0001c0001t0002g0185 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0003g0224 a0001c0001t0003g0234 a0001c0001t0004g0082 a0001c0001t0005g0221 a0001c0001t0007g0076 a0001c0001t0007g0199 a0001c0001t0007g0200	27	250	0.1080	-12	c.913 others(29): Show c.913-5205_913-5194delTAAGGAAGGGAT	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding	6/18			chr4	TogoVar
PRKG2_chr4_81082375_81220222	81163863	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19043.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0198 a0001c0001t0003g0071 a0001c0001t0002g0198 a0001c0001t0003g0071	2	250	0.0080	-12	c.912 others(29): Show c.912+3286_912+3297delGTGTGTGTGTGT	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding	6/18			chr4	TogoVar
PRKN_chr6_161342417_162732766	161405607	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03195.hp2 HG01361.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0013 a0002c0002t0001 a0002c0007t0013	a0002c0002t0001g0016 a0002c0007t0013g0018 a0002c0002t0001g0016 a0002c0007t0013g0018	2	32	0.0625	-12	c.108 others(33): Show c.1084-18742_1084-18731delATTTATTTATTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	9/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161490308	TCTTGCTT others(5): Show TCTTGCTTGCTTG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01361.hp1 HG01884.hp1 others(4): Show HG01192.hp1 HG01361.hp1 HG01884.hp1 HG02602.hp1 HG02602.hp2 HG03688.hp2 HG03704.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0002c0002t0004 a0002c0002t0009 a0003c0005t0002	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0004g0029 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0004g0029 a0001c0001t0006g0003 a0002c0002t0004g0019 a0002c0002t0009g0008 a0003c0005t0002g0026	7	32	0.2188	-12	c.108 others(33): Show c.1083+58534_1083+58545delCAAGCAAGCAAG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	9/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161532160	CTCTCTCT others(5): Show CTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	32	0.0313	-12	c.108 others(33): Show c.1083+16682_1083+16693delTATATAGAGAGA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	9/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161532162	CTCTCTAT others(5): Show CTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02258.hp1 HG02897.hp2 others(1): Show HG01192.hp1 HG02258.hp1 HG02897.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0004t0001	a0001c0001t0003g0021 a0001c0001t0004g0029 a0001c0001t0014g0012 others(1): Show a0001c0001t0003g0021 a0001c0001t0004g0029 a0001c0001t0014g0012 a0001c0004t0001g0001	4	32	0.1250	-12	c.108 others(33): Show c.1083+16680_1083+16691delTATATATAGAGA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	9/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161553326	GCTTCTTT others(5): Show GCTTCTTTCCTTC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp1 HG01884.hp2 others(4): Show HG01361.hp1 HG01884.hp1 HG01884.hp2 HG02897.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0003t0001 a0001c0004t0001 a0002c0002t0004 a0002c0007t0013	a0001c0001t0001g0030 a0001c0001t0002g0007 a0001c0001t0008g0010 others(4): Show a0001c0001t0001g0030 a0001c0001t0002g0007 a0001c0001t0008g0010 a0001c0003t0001g0032 a0001c0004t0001g0001 a0002c0002t0004g0019 a0002c0007t0013g0018	7	32	0.2188	-12	c.934 others(29): Show c.934-4335_934-4324delGAAGGAAAGAAG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	8/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161573719	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0012 a0005c0011t0012	a0005c0011t0012g0009 a0005c0011t0012g0009	1	32	0.0313	-12	c.872 others(29): Show c.872-4315_872-4304delTTTTTTTTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161582971	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	32	0.0313	-12	c.872 others(31): Show c.872-13567_872-13556delGTGTGTGTGTGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161689185	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG03195.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0010 a0001c0001t0002 a0001c0008t0010	a0001c0001t0002g0005 a0001c0001t0002g0023 a0001c0008t0010g0014 a0001c0001t0002g0005 a0001c0001t0002g0023 a0001c0008t0010g0014	3	32	0.0938	-12	c.871 others(31): Show c.871+96575_871+96586delGTGTGTGTGTGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161690958	AATCCATC others(5): Show AATCCATCCATCC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	32	0.0313	-12	c.871 others(31): Show c.871+94802_871+94813delGGATGGATGGAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161703839	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03516.hp2 HG03195.hp1 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0008 a0004c0009 a0001c0008 a0004c0009	a0001c0008t0010 a0004c0009t0011 a0001c0008t0010 a0004c0009t0011	a0001c0008t0010g0014 a0004c0009t0011g0031 a0001c0008t0010g0014 a0004c0009t0011g0031	2	32	0.0625	-12	c.871 others(31): Show c.871+81921_871+81932delAAAAAAAAAAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161733775	AAAAAAAA others(5): Show AAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	32	0.0313	-12	c.871 others(31): Show c.871+51985_871+51996delATATTTTTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161733959	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0011 a0004c0009t0011	a0004c0009t0011g0031 a0004c0009t0011g0031	1	32	0.0313	-12	c.871 others(31): Show c.871+51801_871+51812delGTGTGTGTGTGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161733995	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 HG02922.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0001 a0001c0001t0002 a0003c0005t0001	a0001c0001t0002g0023 a0003c0005t0001g0015 a0001c0001t0002g0023 a0003c0005t0001g0015	2	32	0.0625	-12	c.871 others(31): Show c.871+51765_871+51776delATGTGTGTGTGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161777814	ATGTGTAT others(5): Show ATGTGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG02897.hp1 others(3): Show HG02258.hp1 HG02647.hp2 HG02897.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0007 a0003c0006 a0001c0001 a0002c0007 a0003c0006	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0002c0007t0013 a0003c0006t0003	a0001c0001t0003g0022 a0001c0001t0007g0020 a0001c0001t0008g0010 others(3): Show a0001c0001t0003g0022 a0001c0001t0007g0020 a0001c0001t0008g0010 a0001c0001t0014g0012 a0002c0007t0013g0018 a0003c0006t0003g0004	6	32	0.1875	-12	c.871 others(29): Show c.871+7946_871+7957delCATATATACACA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161851903	ATGGCGAA others(5): Show ATGGCGAAAACAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0005 a0006c0010t0005	a0006c0010t0005g0013 a0006c0010t0005g0013	1	32	0.0313	-12	c.735 others(31): Show c.735-66007_735-65996delATGTTTTCGCCA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161863871	TTATACTA others(5): Show TTATACTATGCCA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	32	0.0313	-12	c.735 others(31): Show c.735-77975_735-77964delTGGCATAGTATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161943986	TGAGGAAG others(5): Show TGAGGAAGGAGCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0012 a0005c0011t0012	a0005c0011t0012g0009 a0005c0011t0012g0009	1	32	0.0313	-12	c.734 others(31): Show c.734+29304_734+29315delGGCTCCTTCCTC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162010861	TAATATAT others(5): Show TAATATATTATAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp2 HG02602.hp1 others(1): Show HG01192.hp2 HG01884.hp2 HG02602.hp1 HG03516.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0009 a0003c0005t0001	a0001c0001t0001g0017 a0001c0001t0002g0007 a0002c0002t0009g0008 others(1): Show a0001c0001t0001g0017 a0001c0001t0002g0007 a0002c0002t0009g0008 a0003c0005t0001g0015	4	32	0.1250	-12	c.619 others(31): Show c.619-37456_619-37445delTTATAATATATT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162021119	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	32	0.0313	-12	c.618 others(31): Show c.618+32960_618+32971delATATATATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162213804	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03516.hp1 NA18522.hp2 HG03195.hp1 HG03516.hp1 NA18522.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0008 a0003c0005 a0006c0010 a0001c0008 a0003c0005 a0006c0010	a0001c0008t0010 a0003c0005t0001 a0006c0010t0005 a0001c0008t0010 a0003c0005t0001 a0006c0010t0005	a0001c0008t0010g0014 a0003c0005t0001g0015 a0006c0010t0005g0013 a0001c0008t0010g0014 a0003c0005t0001g0015 a0006c0010t0005g0013	3	32	0.0938	-12	c.413 others(31): Show c.413-12564_413-12553delGTGTGTGTGTGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	3/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162304489	TTCTATCT others(5): Show TTCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG03041.hp1 HG01361.hp1 HG01361.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 a0001c0001t0001 a0001c0001t0008 a0002c0002t0001	a0001c0001t0001g0030 a0001c0001t0008g0010 a0002c0002t0001g0016 a0001c0001t0001g0030 a0001c0001t0008g0010 a0002c0002t0001g0016	3	32	0.0938	-12	c.172 others(31): Show c.172-41736_172-41725delTAGATAGATAGA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162307840	CAGCTATT others(5): Show CAGCTATTACGAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp2 HG03041.hp2 NA18522.hp2	a0003 a0006 a0003 a0006	a0003c0006 a0006c0010 a0003c0006 a0006c0010	a0003c0006t0003 a0006c0010t0005 a0003c0006t0003 a0006c0010t0005	a0003c0006t0003g0004 a0006c0010t0005g0013 a0003c0006t0003g0004 a0006c0010t0005g0013	2	32	0.0625	-12	c.172 others(31): Show c.172-45087_172-45076delATCGTAATAGCT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162387551	CACACAGA others(5): Show CACACAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp2 HG03516.hp2 HG02647.hp1 HG03195.hp2 HG03516.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0002c0007 a0004c0009 a0001c0004 a0002c0007 a0004c0009	a0001c0004t0001 a0002c0007t0013 a0004c0009t0011 a0001c0004t0001 a0002c0007t0013 a0004c0009t0011	a0001c0004t0001g0006 a0002c0007t0013g0018 a0004c0009t0011g0031 a0001c0004t0001g0006 a0002c0007t0013g0018 a0004c0009t0011g0031	3	32	0.0938	-12	c.171 others(31): Show c.171+55747_171+55758delCTCTCTCTGTGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162387555	CAGAGAGA others(5): Show CAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0010 a0001c0001t0008g0010	1	32	0.0313	-12	c.171 others(31): Show c.171+55743_171+55754delCTCTCTCTCTCT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162445689	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02922.hp1 HG03041.hp2 others(2): Show HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03209.hp2 HG03688.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0003c0006	a0001c0001t0005 a0001c0003t0001 a0001c0003t0003 others(2): Show a0001c0001t0005 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0003c0006t0003	a0001c0001t0005g0002 a0001c0003t0001g0032 a0001c0003t0003g0027 others(2): Show a0001c0001t0005g0002 a0001c0003t0001g0032 a0001c0003t0003g0027 a0001c0004t0001g0001 a0003c0006t0003g0004	5	32	0.1563	-12	c.8-2 others(25): Show c.8-2228_8-2217delTTTTTTTTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162461499	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp2 NA18522.hp2 HG02647.hp1 HG03195.hp2 NA18522.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0004 a0002c0007 a0006c0010 a0001c0004 a0002c0007 a0006c0010	a0001c0004t0001 a0002c0007t0013 a0006c0010t0005 a0001c0004t0001 a0002c0007t0013 a0006c0010t0005	a0001c0004t0001g0006 a0002c0007t0013g0018 a0006c0010t0005g0013 a0001c0004t0001g0006 a0002c0007t0013g0018 a0006c0010t0005g0013	3	32	0.0938	-12	c.8-1 others(27): Show c.8-18038_8-18027delTTTTTTTTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162548052	TTTTTTGT others(5): Show TTTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02647.hp1 others(7): Show HG01884.hp2 HG02258.hp2 HG02647.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03516.hp1 HG03688.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0003c0005 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0003t0003 a0001c0004t0001 a0003c0005t0001 a0003c0005t0002 a0003c0006t0003	a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0011 others(7): Show a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0003g0022 a0001c0001t0008g0010 a0001c0003t0003g0027 a0001c0004t0001g0006 a0003c0005t0001g0015 a0003c0005t0002g0026 a0003c0006t0003g0004	10	32	0.3125	-12	c.8-1 others(29): Show c.8-104591_8-104580delCAAAAACAAAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162565697	AATACATA others(5): Show AATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp1 HG03688.hp2 HG02922.hp1 HG03516.hp1 HG03688.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0003 a0003c0005t0001 a0003c0005t0002 a0001c0003t0003 a0003c0005t0001 a0003c0005t0002	a0001c0003t0003g0027 a0003c0005t0001g0015 a0003c0005t0002g0026 a0001c0003t0003g0027 a0003c0005t0001g0015 a0003c0005t0002g0026	3	32	0.0938	-12	c.8-1 others(29): Show c.8-122236_8-122225delGTATGTATGTAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162576697	AGCTACTC others(5): Show AGCTACTCAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	32	0.0313	-12	c.8-1 others(29): Show c.8-133236_8-133225delCTCCTGAGTAGC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162584848	CCCTGTCC others(5): Show CCCTGTCCCATCT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02897.hp2 HG03195.hp1 others(1): Show HG02602.hp2 HG02897.hp2 HG03195.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0005 a0001c0001t0006 a0001c0004t0001 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0004t0001 a0001c0008t0010	a0001c0001t0005g0002 a0001c0001t0006g0003 a0001c0004t0001g0001 others(1): Show a0001c0001t0005g0002 a0001c0001t0006g0003 a0001c0004t0001g0001 a0001c0008t0010g0014	4	32	0.1250	-12	c.8-1 others(29): Show c.8-141387_8-141376delAGATGGGACAGG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162651119	CTTTGTTT others(5): Show CTTTGTTTGTTTG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	32	0.0313	-12	c.7+7 others(27): Show c.7+76531_7+76542delCAAACAAACAAA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162658662	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	32	0.0313	-12	c.7+6 others(27): Show c.7+68988_7+68999delCTTTTTTTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKRA_chr2_178426414_178456175	178431010	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	406	0.0025	-12	c.10 others(23): Show c.1075_*1086delAAAAAAAAAAAA	PRKRA	ENSG00000180228.14	transcript	ENST00000325748.9	protein_coding		403		chr2	TogoVar
PRKRIP1_chr7_102391363_102431666	102419845	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00558.hp2 others(51): Show HG00323.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01261.hp1 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03453.hp2 HG03491.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG06807.hp1 NA18747.hp1 NA18946.hp2 NA18947.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18968.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA19000.hp2 NA19010.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19085.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0017	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0017 others(39): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0002g0073 a0001c0001t0015g0017 a0001c0001t0017g0019	54	382	0.1414	-12	c.458 others(29): Show c.458-5129_458-5118delGTGTGTGTGTGT	PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRKRIP1_chr7_102391363_102431666	102422167	TATTATTA others(5): Show TATTATTATTATG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01256.hp2 others(12): Show HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG02148.hp2 HG02280.hp1 HG02559.hp2 HG03195.hp2 HG04184.hp1 HG04228.hp2 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0089 a0002c0002t0004g0011 a0002c0002t0004g0026 others(8): Show a0001c0001t0002g0089 a0002c0002t0004g0011 a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0050 a0002c0002t0004g0051 a0002c0002t0004g0052 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0004g0056 a0002c0002t0004g0058	15	382	0.0393	-12	c.458 others(29): Show c.458-2835_458-2824delGATTATTATTAT	PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRKX_chrX_3599340_3718649	3605012	GACACACA others(5): Show GACACACACACAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03239.hp2 NA19066.hp1 HG03239.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0088 a0001c0001t0042 a0001c0001t0088	a0001c0001t0042g0032 a0001c0001t0088g0144 a0001c0001t0042g0032 a0001c0001t0088g0144	2	227	0.0088	-12	c.39 others(23): Show c.3945_*3956delGTGTGTGTGTGT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	9/9	7176		chrX	TogoVar
PRKX_chrX_3599340_3718649	3607878	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0132 a0002c0004t0132	a0002c0004t0132g0203 a0002c0004t0132g0203	1	227	0.0044	-12	c.10 others(23): Show c.1079_*1090delAAAAAAAAAAAA	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	9/9	4310		chrX	TogoVar
PRKX_chrX_3599340_3718649	3608578	TACACACA others(5): Show TACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG03195.hp2 HG03209.hp1 others(2): Show HG02970.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 others(2): Show a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0002t0057	a0001c0001t0054g0071 a0001c0001t0055g0077 a0001c0001t0056g0090 others(2): Show a0001c0001t0054g0071 a0001c0001t0055g0077 a0001c0001t0056g0090 a0001c0001t0058g0064 a0001c0002t0057g0076	5	227	0.0220	-12	c.37 others(21): Show c.379_*390delGTGTGTGTGTGT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	9/9	3610		chrX	TogoVar
PRKX_chrX_3599340_3718649	3613150	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18612.hp1 NA18962.hp1 others(2): Show HG01496.hp2 NA18612.hp1 NA18962.hp1 NA18970.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0018 a0001c0001t0066 a0001c0001t0069 others(2): Show a0001c0001t0018 a0001c0001t0066 a0001c0001t0069 a0001c0002t0004 a0001c0009t0063	a0001c0001t0018g0146 a0001c0001t0066g0094 a0001c0001t0069g0068 others(2): Show a0001c0001t0018g0146 a0001c0001t0066g0094 a0001c0001t0069g0068 a0001c0002t0004g0075 a0001c0009t0063g0096	5	227	0.0220	-12	c.952 others(27): Show c.952-837_952-826delTTTTTTTTTTTT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	7/8			chrX	TogoVar
PRKX_chrX_3599340_3718649	3650879	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	227	0.0044	-12	c.599 others(29): Show c.599+4258_599+4269delTTTTTTTTTTTT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	3/8			chrX	TogoVar
PRKX_chrX_3599340_3718649	3662998	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0142 a0001c0002t0018g0142	1	227	0.0044	-12	c.336 others(29): Show c.336-7598_336-7587delTTTTTTTTTTTT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	2/8			chrX	TogoVar
PRKX_chrX_3599340_3718649	3669316	CTCCATCC others(5): Show CTCCATCCATCCA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02970.hp2 HG03579.hp1 HG02922.hp1 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0049 a0001c0001t0111 a0001c0002t0057 a0001c0001t0049 a0001c0001t0111 a0001c0002t0057	a0001c0001t0049g0083 a0001c0001t0111g0179 a0001c0002t0057g0076 a0001c0001t0049g0083 a0001c0001t0111g0179 a0001c0002t0057g0076	3	227	0.0132	-12	c.335 others(29): Show c.335+5270_335+5281delTGGATGGATGGA	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	2/8			chrX	TogoVar
PRLH_chr2_237561574_237572175	237565490	CACACACA others(5): Show CACACACACATCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03041.hp1 HG03453.hp2 HG02622.hp1 HG03041.hp1 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0000 a0003c0002t0000 a0001c0001t0000 a0003c0002t0000	a0001c0001t0000g0001 a0003c0002t0000g0001 a0001c0001t0000g0001 a0003c0002t0000g0001	3	404	0.0074	-12	c.-10 others(23): Show c.-1083_-1072delACACACACATCT	PRLH	ENSG00000071677.1	transcript	ENST00000165524.1	protein_coding		1083		chr2	TogoVar
PRLR_chr5_35050702_35235487	35167138	CATCTATC others(5): Show CATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp1 HG02922.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0007 a0001c0001t0008 a0002c0002t0007	a0001c0001t0008g0118 a0002c0002t0007g0120 a0001c0001t0008g0118 a0002c0002t0007g0120	2	214	0.0094	-12	c.-10 others(33): Show c.-105-49028_-105-49017delAGATAGATAGAT	PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	1/9			chr5	TogoVar
PRLR_chr5_35050702_35235487	35191048	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02055.hp1 HG03579.hp2 HG01943.hp2 HG02055.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0011 a0002c0002t0028 a0001c0001t0001 a0002c0002t0011 a0002c0002t0028	a0001c0001t0001g0080 a0002c0002t0011g0015 a0002c0002t0028g0102 a0001c0001t0001g0080 a0002c0002t0011g0015 a0002c0002t0028g0102	3	214	0.0140	-12	c.-10 others(33): Show c.-106+39208_-106+39219delAAAAAAAAAAAA	PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	1/9			chr5	TogoVar
PRLR_chr5_35050702_35235487	35207297	TATAATCA others(5): Show TATAATCAGTTAA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18522.hp1 NA20300.hp1 HG02818.hp2 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0010g0005	3	214	0.0140	-12	c.-10 others(33): Show c.-106+22959_-106+22970delTTAACTGATTAT	PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	1/9			chr5	TogoVar
PRL_chr6_22282246_22302036	22293625	GGGAAGGA others(5): Show GGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0103 a0002c0005t0001g0103	1	446	0.0022	-12	c.204 others(27): Show c.204+772_204+783delTTCCTTCCTTCC	PRL	ENSG00000172179.13	transcript	ENST00000306482.2	protein_coding	2/4			chr6	TogoVar

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