Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PARN_chr16_14430701_14635260	14451844	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAATAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02572.hp2 HG02615.hp2 others(3): Show HG00741.hp1 HG02572.hp2 HG02615.hp2 HG02886.hp2 NA19030.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0004 a0001c0002t0003 a0001c0002t0004 others(2): Show a0001c0001t0004 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0003c0005t0003	a0001c0001t0004g0069 a0001c0002t0003g0151 a0001c0002t0004g0148 others(3): Show a0001c0001t0004g0069 a0001c0002t0003g0151 a0001c0002t0004g0148 a0001c0002t0005g0149 a0001c0002t0005g0150 a0003c0005t0003g0125	6	169	0.0355	-25	c.167 others(44): Show c.1671-4788_1671-4764delGTATTTTTTTTTTTTTTTTTTTTTT		PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	22/23						chr16	TogoVar
PARN_chr16_14430701_14635260	14633644	AAGAGAAT others(18): Show AAGAGAATTTTCTTTTTTTTCTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0156 a0001c0001t0006g0156	1	169	0.0059	-25	c.-35 others(36): Show c.-3544_-3520delAAAAAGAAAAAAAAGAAAATTCTCT		PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding					3385		chr16	TogoVar
PARP2_chr14_20338635_20362904	20347365	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	420	0.0024	-25	c.324 others(40): Show c.324+453_324+477delATATATATATATATATATATATATA		PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15						chr14	TogoVar
PARP2_chr14_20338635_20362904	20347382	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0276	1	420	0.0024	-25	c.324 others(40): Show c.324+471_324+495delATATATATATATATATTTTTTTTTT		PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP9_chr3_122522924_122569300	122562156	CTCTTTTC others(18): Show CTCTTTTCTTTTCTTTTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02257.hp1 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	2	436	0.0046	-25	c.-90 others(42): Show c.-90+2064_-90+2088delAAAGAAAAGAAAAGAAAAGAAAAGA		PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	1/10						chr3	TogoVar
PARVA_chr11_12372571_12540356	12372801	CAGGTTTT others(18): Show CAGGTTTTTGCCATGTTGTCCAGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG02738.hp1 HG03239.hp1 HG01070.hp1 HG02738.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0026 a0001c0001t0040 a0001c0001t0003 a0001c0001t0026 a0001c0001t0040	a0001c0001t0003g0271 a0001c0001t0026g0269 a0001c0001t0040g0270 a0001c0001t0003g0271 a0001c0001t0026g0269 a0001c0001t0040g0270	3	286	0.0105	-25	c.-48 others(36): Show c.-4846_-4822delAGGTTTTTGCCATGTTGTCCAGGCT		PARVA	ENSG00000197702.14	transcript	ENST00000334956.15	protein_coding					4769		chr11	TogoVar
PARVB_chr22_44019302_44177939	44023537	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG01884.hp2 others(9): Show HG01109.hp2 HG01433.hp1 HG01884.hp2 HG02559.hp1 HG02630.hp2 HG02896.hp2 HG02922.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007	a0001c0001t0003 a0001c0001t0009 a0001c0001t0021 others(7): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0021 a0001c0001t0034 a0001c0001t0068 a0001c0002t0015 a0001c0002t0021 a0001c0005t0078 a0001c0007t0013 a0001c0007t0069	a0001c0001t0003g0328 a0001c0001t0009g0091 a0001c0001t0009g0154 others(9): Show a0001c0001t0003g0328 a0001c0001t0009g0091 a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0021g0090 a0001c0001t0034g0156 a0001c0001t0068g0329 a0001c0002t0015g0327 a0001c0002t0021g0092 a0001c0005t0078g0093 a0001c0007t0013g0088 a0001c0007t0069g0094	12	332	0.0361	-25	c.-80 others(34): Show c.-802_-778delAAAATAAAATAAAATAAAATAAAAT		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding					764		chr22	TogoVar
PARVG_chr22_44175925_44213469	44199190	TACCCAGT others(18): Show TACCCAGTCCATCCATCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0222 a0001c0003t0004g0222	1	422	0.0024	-25	c.813 others(40): Show c.813+474_813+498delGTCCATCCATCCATCCATCCACCCA		PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr22	TogoVar
PAWR_chr12_79579879_79695964	79613973	ATATATAT others(18): Show ATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0160 a0003c0004t0009g0160	1	256	0.0039	-25	c.649 others(40): Show c.649-389_649-365delAAAAAAAAAAAAAAAAAAATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79638880	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03195.hp2 HG01074.hp2 HG03195.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0157 a0003c0004t0009g0160 a0003c0004t0009g0157 a0003c0004t0009g0160	2	256	0.0078	-25	c.517 others(44): Show c.517-17698_517-17674delAAAAAAAAATATATATATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6						chr12	TogoVar
PAX3_chr2_222194887_222303998	222260566	TTTTTTTT others(18): Show TTTTTTTTTTTTGTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	328	0.0031	-25	c.587 others(44): Show c.587-28308_587-28284delCAAAAAAAAAAAACAAAAAAAAAAA		PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8						chr2	TogoVar
PAX5_chr9_36828269_37039268	36973078	CGGAACGG others(18): Show CGGAACGGAAAGGAAAGGAAAGGAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0220 a0001c0002t0016g0220	1	274	0.0037	-25	c.605 others(42): Show c.605-6379_605-6355delTTTCCTTTCCTTTCCTTTCCGTTCC		PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9						chr9	TogoVar
PAX5_chr9_36828269_37039268	36973110	GAAAGGAA others(18): Show GAAAGGAAAGGAAAGGAAAGGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02523.hp2 HG02572.hp2 others(6): Show HG00642.hp2 HG02523.hp2 HG02572.hp2 HG02630.hp2 HG03239.hp2 NA18612.hp1 NA18965.hp2 NA19004.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0051 a0001c0002t0005 a0001c0002t0006 a0001c0002t0017 a0001c0002t0083	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0002g0223 others(6): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0002g0223 a0001c0001t0010g0049 a0001c0001t0051g0017 a0001c0002t0005g0224 a0001c0002t0006g0063 a0001c0002t0017g0250 a0001c0002t0083g0245	9	274	0.0329	-25	c.605 others(42): Show c.605-6411_605-6387delTCTTTCCTTTCCTTTCCTTTCCTTT		PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9						chr9	TogoVar
PAX8_chr2_113210997_113283921	113224814	AATAAAAA others(18): Show AATAAAAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0037 a0001c0001t0032g0037	1	300	0.0033	-25	c.118 others(44): Show c.1189+2316_1189+2340delATTTTATTTTATTTTATTTTTTTAT		PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	10/11						chr2	TogoVar
PAX8_chr2_113210997_113283921	113224839	TATAAAAT others(18): Show TATAAAATAAAATAAAATAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	300	0.0033	-25	c.118 others(44): Show c.1189+2291_1189+2315delTTTATTTTATTTTATTTTATTTTAT		PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	10/11						chr2	TogoVar
PBDC1_chrX_76168062_76183314	76173508	TCACTGCG others(18): Show TCACTGCGACTGGCCTTGGGGGGAGC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18970.hp1 NA19011.hp2 HG02155.hp1 NA18970.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0011 a0001c0001t0001g0027	3	293	0.0102	-25	c.31- others(36): Show c.31-73_31-49delTGCGACTGGCCTTGGGGGGAGCCAC		PBDC1	ENSG00000102390.11	transcript	ENST00000373358.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
PBX1_chr1_164554184_164856831	164750454	ATTCTCAA others(18): Show ATTCTCAATCAGAGCTTAAAAAAATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03486.hp2 HG02451.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0112 a0001c0001t0004g0039 a0001c0001t0004g0112	2	184	0.0109	-25	c.266 others(44): Show c.266-42037_266-42013delCTCAATCAGAGCTTAAAAAAATTTT		PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX3_chr9_125742373_125972377	125943352	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00609.hp1 others(33): Show HG00408.hp2 HG00544.hp1 HG00609.hp1 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02129.hp1 HG02735.hp2 HG03492.hp1 HG04228.hp2 NA18939.hp1 NA18956.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18979.hp1 NA18979.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19079.hp1 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0014	a0001c0001t0002g0074 a0001c0001t0003g0104 a0001c0002t0003g0142 others(33): Show a0001c0001t0002g0074 a0001c0001t0003g0104 a0001c0002t0003g0142 a0001c0002t0004g0118 a0001c0002t0004g0135 a0001c0002t0004g0136 a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0002t0004g0139 a0001c0002t0004g0140 a0001c0002t0004g0141 a0001c0002t0004g0143 a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0164 a0001c0002t0004g0165 a0001c0002t0004g0166 a0001c0002t0013g0134 a0001c0002t0014g0151	36	294	0.1225	-25	c.843 others(42): Show c.843+7768_843+7792delAAAAAAAAAAAAAAAAAAAAAAAAA		PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX4_chr19_19556713_19623687	19560958	CAGGCTGG others(18): Show CAGGCTGGAGTGCAGTGGCGTGATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	376	0.0027	-25	c.10 others(36): Show c.1042_*1066delAGATCACGCCACTGCACTCCAGCCT		PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding					754		chr19	TogoVar
PBX4_chr19_19556713_19623687	19570813	GAATGCCA others(18): Show GAATGCCACGGATGCTTACCACTAGA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18946.hp2 NA18946.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0053 a0004c0004t0001g0053	1	376	0.0027	-25	c.194 others(34): Show c.194-5_213delTCTAGTGGTAAGCATCCGTGGCATT	p.Val others(4): Show p.Val65fs	PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding	3/8	271/1495	194/1125	65/374			chr19	TogoVar
PCCA_chr13_100084093_100535435	100422065	TTTTCTTT others(18): Show TTTTCTTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp1 HG03654.hp2 others(3): Show HG02886.hp1 HG03516.hp1 HG03654.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0120 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142	6	174	0.0345	-25	c.174 others(44): Show c.1747-3560_1747-3536delTCTTTCTTTCTTTCTTTCTTTCTTT		PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH15_chr10_53797771_54806231	54274676	CACTGTTA others(18): Show CACTGTTAATAACCCTAGAATGACTG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03942.hp2 NA20905.hp2 HG03098.hp2 HG03942.hp2 NA20905.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0006 a0001c0001 a0003c0003 a0006c0006	a0001c0001t0001 a0003c0003t0002 a0006c0006t0005 a0001c0001t0001 a0003c0003t0002 a0006c0006t0005	a0001c0001t0001g0006 a0003c0003t0002g0020 a0006c0006t0005g0055 a0001c0001t0001g0006 a0003c0003t0002g0020 a0006c0006t0005g0055	3	102	0.0294	-25	c.877 others(44): Show c.877-37770_877-37746delCAGTCATTCTAGGGTTATTAACAGT		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37						chr10	TogoVar
PCDH15_chr10_53797771_54806231	54622692	TATATATT others(18): Show TATATATTTTCTATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0010 a0006c0006t0010	a0006c0006t0010g0030 a0006c0006t0010g0030	1	102	0.0098	-25	c.91+ others(42): Show c.91+41455_91+41479delTATATATAATATATAGAAAATATAT		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	2/37						chr10	TogoVar
PCDH15_chr10_53797771_54806231	54761683	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02258.hp1 HG02615.hp2 others(4): Show HG00735.hp1 HG02258.hp1 HG02615.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0035 a0036	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0035c0025 a0036c0019	a0001c0001t0001 a0001c0001t0008 a0002c0002t0008 others(4): Show a0001c0001t0001 a0001c0001t0008 a0002c0002t0008 a0003c0003t0004 a0005c0005t0009 a0035c0025t0007 a0036c0019t0015	a0001c0001t0001g0089 a0001c0001t0008g0003 a0002c0002t0008g0019 others(4): Show a0001c0001t0001g0089 a0001c0001t0008g0003 a0002c0002t0008g0019 a0003c0003t0004g0088 a0005c0005t0009g0085 a0035c0025t0007g0079 a0036c0019t0015g0001	7	102	0.0686	-25	c.-29 others(44): Show c.-29+39217_-29+39241delGTTTTGTTTTGTTTTGTTTTGTTTT		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54274676	CACTGTTA others(18): Show CACTGTTAATAACCCTAGAATGACTG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03942.hp2 NA20905.hp1 HG03098.hp2 HG03942.hp2 NA20905.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0005 a0006c0008 a0001c0001 a0003c0005 a0006c0008	a0001c0001t0001 a0003c0005t0001 a0006c0008t0001 a0001c0001t0001 a0003c0005t0001 a0006c0008t0001	a0001c0001t0001g0006 a0003c0005t0001g0020 a0006c0008t0001g0053 a0001c0001t0001g0006 a0003c0005t0001g0020 a0006c0008t0001g0053	3	94	0.0319	-25	c.877 others(44): Show c.877-37770_877-37746delCAGTCATTCTAGGGTTATTAACAGT		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54622692	TATATATT others(18): Show TATATATTTTCTATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0027 a0006c0008t0001g0027	1	94	0.0106	-25	c.91+ others(42): Show c.91+41455_91+41479delTATATATAATATATAGAAAATATAT		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	2/32						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54761683	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02258.hp1 HG02615.hp2 others(4): Show HG00735.hp1 HG02258.hp1 HG02615.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0031 a0032	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0005c0036 a0031c0032 a0032c0023	a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 others(3): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 a0005c0036t0001 a0031c0032t0001 a0032c0023t0006	a0001c0001t0001g0003 a0001c0001t0001g0081 a0002c0002t0002g0019 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0081 a0002c0002t0002g0019 a0003c0003t0002g0080 a0005c0036t0001g0077 a0031c0032t0001g0072 a0032c0023t0006g0001	7	94	0.0745	-25	c.-29 others(44): Show c.-29+39217_-29+39241delGTTTTGTTTTGTTTTGTTTTGTTTT		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32						chr10	TogoVar
PCDH18_chr4_137513918_137537494	137517489	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG04184.hp1 HG01884.hp1 HG02451.hp1 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0026 a0001c0001t0029 a0002c0009t0012 a0001c0001t0026 a0001c0001t0029 a0002c0009t0012	a0001c0001t0026g0104 a0001c0001t0029g0119 a0002c0009t0012g0064 a0001c0001t0026g0104 a0001c0001t0029g0119 a0002c0009t0012g0064	3	406	0.0074	-25	c.35 others(36): Show c.3515_*3539delATAAAATAAAATAAAATAAAATAAA		PCDH18	ENSG00000189184.12	transcript	ENST00000344876.9	protein_coding					1428		chr4	TogoVar
PCDH7_chr4_30715369_31151800	30894479	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	214	0.0047	-25	c.317 others(46): Show c.3175-25672_3175-25648delAAAAAAAAAAATATATATATATAT A		PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH9_chr13_66297834_67235336	66594468	GTTTATTT others(18): Show GTTTATTTTATTTTATTTTATTTTAT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02132.hp2 HG02809.hp2 others(2): Show HG00735.hp2 HG02132.hp2 HG02809.hp2 HG03927.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0055 a0001c0001t0003g0054 a0001c0002t0002g0009 others(2): Show a0001c0001t0001g0055 a0001c0001t0003g0054 a0001c0002t0002g0009 a0001c0002t0002g0013 a0001c0003t0001g0039	5	80	0.0625	-25	c.334 others(46): Show c.3340+36717_3340+36741delATAAAATAAAATAAAATAAAATAA A		PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	4/4						chr13	TogoVar
PCDHB6_chr5_141145057_141158287	141146296	CAGAATAC others(18): Show CAGAATACACCAGAATAAAAAATACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 NA18906.hp1 NA19240.hp1 HG02622.hp2 NA18906.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0003 a0001c0001t0003 a0003c0003t0003	a0001c0001t0003g0000 a0003c0003t0003g0000 a0001c0001t0003g0000 a0003c0003t0003g0000	3	464	0.0065	-25	c.-39 others(36): Show c.-3961_-3937delAGAATACACCAGAATAAAAAATACT		PCDHB6	ENSG00000113211.6	transcript	ENST00000231136.4	protein_coding					3760		chr5	TogoVar
PCGF3_chr4_700832_775089	701973	CAAAGAAA others(18): Show CAAAGAAAAGAAAAGAAAAGAAAAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02280.hp2 HG01081.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0203 a0001c0001t0026g0114 a0001c0001t0001g0203 a0001c0001t0026g0114	2	366	0.0055	-25	c.-41 others(36): Show c.-4186_-4162delAAAGAAAAGAAAAGAAAAGAAAAGA		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding					3858		chr4	TogoVar
PCLO_chr7_82749012_83167884	82978834	AAACACAC others(18): Show AAACACACACACACACACACACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	188	0.0053	-25	c.330 others(46): Show c.3301-12372_3301-12348delGTTTGTGTGTGTGTGTGTGTGTGT T		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCLO_chr7_82749012_83167884	82999494	TATATAAT others(18): Show TATATAATATTATATTAAAATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG00741.hp1 others(16): Show HG00597.hp1 HG00621.hp2 HG00741.hp1 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01361.hp1 HG01891.hp1 HG02615.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp2 HG04199.hp2 HG06807.hp2 NA19010.hp1 NA19043.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(8): Show a0001 a0003 a0006 a0008 a0010 a0028 a0035 a0059 a0064 a0065 a0071	a0001c0001 a0003c0022 a0003c0023 others(11): Show a0001c0001 a0003c0022 a0003c0023 a0003c0085 a0006c0014 a0006c0028 a0008c0026 a0010c0011 a0028c0089 a0035c0043 a0059c0051 a0064c0108 a0065c0109 a0071c0100	a0001c0001t0004 a0001c0001t0005 a0003c0022t0003 others(13): Show a0001c0001t0004 a0001c0001t0005 a0003c0022t0003 a0003c0023t0002 a0003c0023t0005 a0003c0085t0035 a0006c0014t0005 a0006c0028t0005 a0008c0026t0004 a0010c0011t0001 a0028c0089t0001 a0035c0043t0004 a0059c0051t0003 a0064c0108t0001 a0065c0109t0004 a0071c0100t0001	a0001c0001t0004g0087 a0001c0001t0004g0092 a0001c0001t0004g0150 others(16): Show a0001c0001t0004g0087 a0001c0001t0004g0092 a0001c0001t0004g0150 a0001c0001t0005g0113 a0003c0022t0003g0166 a0003c0023t0002g0165 a0003c0023t0005g0158 a0003c0085t0035g0178 a0006c0014t0005g0042 a0006c0014t0005g0045 a0006c0028t0005g0050 a0008c0026t0004g0056 a0010c0011t0001g0160 a0028c0089t0001g0169 a0035c0043t0004g0044 a0059c0051t0003g0123 a0064c0108t0001g0070 a0065c0109t0004g0072 a0071c0100t0001g0062	19	188	0.1011	-25	c.330 others(46): Show c.3301-33032_3301-33008delTTTATATTTTAATATAATATTATA T		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24						chr7	TogoVar
PCNA_chr20_5109953_5124958	5111607	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-25	c.36 others(36): Show c.3651_*3675delTTTTTTTTTTTTTTTTTTTTTTTTT		PCNA	ENSG00000132646.11	transcript	ENST00000379143.10	protein_coding					3345		chr20	TogoVar
PCOLCE2_chr3_142812874_142894083	142854329	AGTTGATC others(18): Show AGTTGATCTACGTAAAGCTCGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(175): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp2 NA19002.hp2 NA19006.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0007t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0003c0003t0001 a0003c0003t0003	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0104 others(166): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0304 a0001c0001t0001g0311 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0211 a0001c0001t0002g0231 a0001c0001t0002g0239 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0270 a0001c0001t0002g0275 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0303 a0001c0001t0002g0309 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0056 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0081 a0001c0001t0004g0083 a0001c0001t0004g0085 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0005g0002 a0001c0001t0005g0025 a0001c0001t0005g0029 a0001c0001t0005g0032 a0001c0001t0005g0040 a0001c0001t0005g0049 a0001c0001t0005g0055 a0001c0001t0005g0062 a0001c0001t0006g0067 a0001c0001t0006g0077 a0001c0001t0006g0089 a0001c0001t0007g0187 a0001c0001t0009g0027 a0001c0004t0001g0322 a0001c0004t0001g0323 a0001c0004t0002g0320 a0001c0004t0007g0321 a0001c0007t0001g0218 a0002c0002t0001g0111 a0002c0002t0001g0152 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0002g0142 a0002c0002t0002g0197 a0002c0002t0002g0227 a0002c0002t0002g0302 a0002c0002t0004g0004 a0002c0002t0004g0098 a0002c0002t0004g0099 a0002c0002t0004g0100 a0002c0002t0005g0039 a0002c0002t0005g0041 a0002c0002t0007g0139 a0003c0003t0001g0135 a0003c0003t0001g0259 a0003c0003t0003g0035 a0003c0003t0003g0050 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0063	178	342	0.5205	-25	c.193 others(42): Show c.193-5882_193-5858delCACCTCGAGCTTTACGTAGATCAAC		PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding	2/8						chr3	TogoVar
PCP4L1_chr1_161253745_161290450	161282372	GCGTGGAA others(18): Show GCGTGGAAAGAGAGGGAGAGGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(52): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG01934.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG03491.hp2 NA18939.hp2 NA18941.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18968.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19078.hp2 NA19081.hp1 NA19086.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0196 a0001c0001t0001g0239 a0001c0001t0001g0278	55	402	0.1368	-25	c.10- others(40): Show c.10-1290_10-1266delAAAGAGAGGGAGAGGGAGACCGTGG		PCP4L1	ENSG00000248485.2	transcript	ENST00000504449.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
PCSK2_chr20_17222040_17489578	17348031	GAAGAAAG others(18): Show GAAGAAAGAAAGAAAGAAAGGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01516.hp2 HG01517.hp1 others(5): Show HG01346.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG02135.hp2 NA18942.hp1 NA18994.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0012t0021	a0001c0001t0002g0064 a0001c0001t0002g0163 a0001c0001t0002g0170 others(5): Show a0001c0001t0002g0064 a0001c0001t0002g0163 a0001c0001t0002g0170 a0001c0001t0007g0081 a0001c0001t0009g0185 a0001c0001t0009g0186 a0001c0001t0013g0066 a0001c0012t0021g0033	8	274	0.0292	-25	c.283 others(44): Show c.283-10276_283-10252delGAAAGAAAGAAAGAAAGAAAGAAAG		PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK5_chr9_75885673_76367975	75893075	GGAATGGA others(18): Show GGAATGGAACTGGGGAGGCTAGCACT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG00741.hp2 others(11): Show HG00639.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01433.hp2 HG01496.hp1 HG01981.hp1 HG02132.hp1 HG02622.hp1 HG02738.hp2 HG02922.hp2 HG04115.hp2 NA19091.hp2 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0010 a0014 a0020	a0001c0001 a0002c0009 a0002c0019 others(9): Show a0001c0001 a0002c0009 a0002c0019 a0002c0084 a0002c0094 a0003c0005 a0003c0010 a0004c0026 a0010c0018 a0010c0021 a0014c0092 a0020c0071	a0001c0001t0026 a0002c0009t0025 a0002c0019t0011 others(10): Show a0001c0001t0026 a0002c0009t0025 a0002c0019t0011 a0002c0084t0011 a0002c0094t0025 a0003c0005t0011 a0003c0010t0011 a0003c0010t0054 a0004c0026t0052 a0010c0018t0051 a0010c0021t0011 a0014c0092t0050 a0020c0071t0053	a0001c0001t0026g0087 a0001c0001t0026g0093 a0002c0009t0025g0084 others(11): Show a0001c0001t0026g0087 a0001c0001t0026g0093 a0002c0009t0025g0084 a0002c0019t0011g0085 a0002c0084t0011g0092 a0002c0094t0025g0090 a0003c0005t0011g0094 a0003c0010t0011g0086 a0003c0010t0054g0083 a0004c0026t0052g0089 a0010c0018t0051g0088 a0010c0021t0011g0091 a0014c0092t0050g0082 a0020c0071t0053g0053	14	166	0.0843	-25	c.192 others(42): Show c.192+1706_192+1730delTGGAACTGGGGAGGCTAGCACTGAA		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	75994396	CTTTCTTT others(18): Show CTTTCTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG01169.hp2 others(3): Show HG01074.hp1 HG01168.hp2 HG01169.hp2 HG01981.hp1 NA19091.hp1 NA21309.hp2	a0005 a0008 a0010 others(1): Show a0005 a0008 a0010 a0019	a0005c0002 a0008c0003 a0010c0021 others(1): Show a0005c0002 a0008c0003 a0010c0021 a0019c0025	a0005c0002t0009 a0008c0003t0005 a0010c0021t0011 others(1): Show a0005c0002t0009 a0008c0003t0005 a0010c0021t0011 a0019c0025t0005	a0005c0002t0009g0153 a0005c0002t0009g0160 a0005c0002t0009g0162 others(3): Show a0005c0002t0009g0153 a0005c0002t0009g0160 a0005c0002t0009g0162 a0008c0003t0005g0035 a0010c0021t0011g0091 a0019c0025t0005g0032	6	166	0.0361	-25	c.411 others(42): Show c.411+8155_411+8179delCTTTTTTTTTTTTTTTTTTTTTTTT		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	3/37					INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76175222	AAATGGAA others(18): Show AAATGGAATGGAATGAAATGGAATGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01516.hp2 HG02055.hp2 others(11): Show HG01346.hp2 HG01516.hp2 HG02055.hp2 HG02258.hp1 HG02559.hp2 HG02683.hp1 HG02717.hp2 HG03209.hp2 HG03471.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0009 a0011 a0016 a0023	a0001c0001 a0002c0016 a0002c0047 others(9): Show a0001c0001 a0002c0016 a0002c0047 a0003c0005 a0005c0037 a0006c0012 a0009c0011 a0009c0038 a0009c0078 a0011c0007 a0016c0028 a0023c0044	a0001c0001t0027 a0002c0016t0019 a0002c0047t0045 others(11): Show a0001c0001t0027 a0002c0016t0019 a0002c0047t0045 a0003c0005t0003 a0003c0005t0006 a0003c0005t0007 a0005c0037t0014 a0006c0012t0006 a0009c0011t0004 a0009c0038t0021 a0009c0078t0001 a0011c0007t0008 a0016c0028t0061 a0023c0044t0015	a0001c0001t0027g0018 a0002c0016t0019g0064 a0002c0047t0045g0123 others(11): Show a0001c0001t0027g0018 a0002c0016t0019g0064 a0002c0047t0045g0123 a0003c0005t0003g0147 a0003c0005t0006g0033 a0003c0005t0007g0030 a0005c0037t0014g0118 a0006c0012t0006g0023 a0009c0011t0004g0052 a0009c0038t0021g0132 a0009c0078t0001g0007 a0011c0007t0008g0006 a0016c0028t0061g0044 a0023c0044t0015g0134	14	166	0.0843	-25	c.190 others(42): Show c.1900+108_1900+132delAAATGGAATGGAATGGAATGGAATG		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	14/37					INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311636	TCCCTCAC others(18): Show TCCCTCACAGCTCACCCCATCGTCAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0041 a0001c0007t0001g0041	1	336	0.0030	-25	c.269 others(44): Show c.2699+1715_2699+1739delGTGACGATGGGGTGAGCTGTGAGGG		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311806	CGTCACCC others(18): Show CGTCACCCCTCACAGCCCACCCCATG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01358.hp2 HG01496.hp1 others(13): Show HG01099.hp1 HG01358.hp2 HG01496.hp1 HG02055.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03225.hp1 HG03486.hp1 HG06807.hp2 NA19043.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0015	a0001c0002 a0001c0003 a0001c0004 others(7): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0019 a0002c0017 a0002c0032 a0004c0049 a0015c0040	a0001c0002t0003 a0001c0003t0003 a0001c0004t0001 others(8): Show a0001c0002t0003 a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0003 a0001c0010t0003 a0001c0019t0003 a0002c0017t0003 a0002c0032t0003 a0004c0049t0014 a0015c0040t0003	a0001c0002t0003g0243 a0001c0002t0003g0266 a0001c0002t0003g0272 others(13): Show a0001c0002t0003g0243 a0001c0002t0003g0266 a0001c0002t0003g0272 a0001c0002t0003g0293 a0001c0003t0003g0113 a0001c0004t0001g0114 a0001c0004t0003g0038 a0001c0004t0003g0083 a0001c0005t0003g0216 a0001c0010t0003g0291 a0001c0019t0003g0303 a0002c0017t0003g0021 a0002c0017t0003g0024 a0002c0032t0003g0009 a0004c0049t0014g0145 a0015c0040t0003g0101	16	336	0.0476	-25	c.269 others(44): Show c.2699+1545_2699+1569delCATGGGGTGGGCTGTGAGGGGTGAC		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312150	CCACCCCA others(18): Show CCACCCCATCGTCACCCCTCACAGCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02630.hp1 others(7): Show HG02055.hp2 HG02559.hp2 HG02630.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03209.hp2 HG03225.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0019 a0002c0017 a0002c0032	a0001c0001t0009 a0001c0002t0003 a0001c0004t0003 others(4): Show a0001c0001t0009 a0001c0002t0003 a0001c0004t0003 a0001c0007t0003 a0001c0019t0003 a0002c0017t0003 a0002c0032t0003	a0001c0001t0009g0295 a0001c0002t0003g0243 a0001c0002t0003g0266 others(7): Show a0001c0001t0009g0295 a0001c0002t0003g0243 a0001c0002t0003g0266 a0001c0002t0003g0293 a0001c0004t0003g0038 a0001c0004t0003g0083 a0001c0007t0003g0108 a0001c0019t0003g0303 a0002c0017t0003g0021 a0002c0032t0003g0009	10	336	0.0298	-25	c.269 others(44): Show c.2699+1201_2699+1225delAGCTGTGAGGGGTGACGATGGGGTG		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PCYT1B_chrX_24553087_24652347	24593441	CTTTCTTT others(18): Show CTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01069.hp1 others(40): Show HG00140.hp1 HG00642.hp1 HG01069.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG02027.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02572.hp1 HG03139.hp1 HG03654.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 NA18946.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19006.hp1 NA19030.hp1 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19091.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0047 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0060 a0001c0002t0063 a0002c0004t0002	a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0059 others(40): Show a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0002g0077 a0001c0001t0002g0089 a0001c0001t0002g0107 a0001c0001t0011g0093 a0001c0001t0011g0118 a0001c0001t0011g0120 a0001c0001t0017g0074 a0001c0001t0017g0098 a0001c0001t0019g0008 a0001c0001t0019g0110 a0001c0001t0020g0159 a0001c0001t0024g0102 a0001c0001t0024g0103 a0001c0001t0028g0128 a0001c0001t0029g0021 a0001c0001t0030g0010 a0001c0001t0039g0007 a0001c0001t0041g0104 a0001c0001t0044g0090 a0001c0001t0047g0039 a0001c0001t0052g0066 a0001c0001t0054g0020 a0001c0001t0055g0019 a0001c0001t0057g0054 a0001c0001t0060g0100 a0001c0002t0063g0147 a0002c0004t0002g0075	43	260	0.1654	-25	c.335 others(42): Show c.335-3292_335-3268delAGAAAAGAAAAGAAAAGAAAAGAAA		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	3/7						chrX	TogoVar
PDE10A_chr6_165322289_165668241	165384646	GTGTGTGT others(18): Show GTGTGTGTGTGTGTGTGTGTGTGTAT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp1 HG03098.hp2 others(5): Show HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03579.hp2 HG04184.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015	a0001c0001t0002 a0001c0001t0009 a0001c0001t0033 others(4): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0033 a0001c0002t0005 a0001c0002t0006 a0001c0003t0003 a0001c0015t0005	a0001c0001t0002g0090 a0001c0001t0002g0122 a0001c0001t0009g0148 others(5): Show a0001c0001t0002g0090 a0001c0001t0002g0122 a0001c0001t0009g0148 a0001c0001t0033g0218 a0001c0002t0005g0072 a0001c0002t0006g0165 a0001c0003t0003g0026 a0001c0015t0005g0210	8	222	0.0360	-25	c.261 others(44): Show c.2610+3627_2610+3651delATACACACACACACACACACACACA		PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	17/21						chr6	TogoVar
PDE1C_chr7_31746179_32075407	31964358	GCTAGCAC others(18): Show GCTAGCACAGCAATCTGAGATCAAAC	G G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0188 a0003c0016t0001g0188	1	262	0.0038	-25	c.129 others(44): Show c.129-83523_129-83499delGTTTGATCTCAGATTGCTGTGCTAG		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PDE3A_chr12_20363537_20693583	20467933	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA19030.hp1 HG01257.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0069 a0001c0001t0004 a0001c0003t0069	a0001c0001t0004g0130 a0001c0003t0069g0091 a0001c0001t0004g0130 a0001c0003t0069g0091	2	198	0.0101	-25	c.961 others(44): Show c.961-88704_961-88680delAAAAAAAAAAAAAAAAAAAAAAAAA		PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE4D_chr5_58964038_59898726	59031367	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG02258.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0018 a0001c0001t0017 a0001c0001t0018	a0001c0001t0017g0002 a0001c0001t0018g0018 a0001c0001t0017g0002 a0001c0001t0018g0018	2	74	0.0270	-25	c.921 others(42): Show c.921+7467_921+7491delATATATATATATATATATATATATA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	6/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59668897	GAAGAAGA others(18): Show GAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0018 a0001c0001t0018g0018	1	74	0.0135	-25	c.455 others(46): Show c.455+224246_455+224270delTCTTCTTCTTCTTCTTCTTCTTCT T		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar

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