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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PAK2_chr3_196734857_196837647	196761789	ACCCCCAC others(41): Show ACCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01934.hp1 HG01943.hp2 others(5): Show HG01496.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 NA18940.hp2 NA18971.hp1 NA18980.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0008 a0001c0003t0006 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0003t0006 a0001c0003t0008	a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 others(5): Show a0001c0001t0006g0062 a0001c0001t0008g0068 a0001c0003t0006g0066 a0001c0003t0006g0067 a0001c0003t0006g0069 a0001c0003t0008g0063 a0001c0003t0008g0064 a0001c0003t0008g0065	8	178	0.0449	-48	c.-21 others(67): Show c.-21-20831_-21-20784delACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK5_chr20_9532370_9844076	9766474	TGTATATA others(41): Show TGTATATATATATTCAAGCAGAATATATATATATATATATTCAAGCAGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03209.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0002 a0001c0002t0002 a0001c0006t0002	a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0006t0002g0178 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0006t0002g0178	3	208	0.0144	-48	c.-16 others(69): Show c.-161-55087_-161-55040delTCTGCTTGAATATATATATATATA TATTCTGCTTGAATATATATATAC	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PALM_chr19_703935_753329	735205	GTGTCCTG others(41): Show GTGTCCTGGTGTCTGGGTGGGGTCTGTGTGTCTGGGGGCCCAGGTGCCT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0380 a0002c0001t0002g0380	1	404	0.0025	-48	c.443 others(63): Show c.443-813_443-766delTGTCCTGGTGTCTGGGTGGGGTCTGTGTGT CTGGGGGCCCAGGTGCCT	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	6/8			chr19	TogoVar
PANX2_chr22_50165731_50185295	50166553	CCAATCCC others(41): Show CCAATCCCAGCGTGGCCCACGTCTCCAATCCCAGCGTGGCTCAAGCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01169.hp1 NA19054.hp2 HG01081.hp2 HG01169.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0109 a0001c0001t0002g0001 a0001c0001t0002g0124 a0001c0001t0001g0109 a0001c0001t0002g0001 a0001c0001t0002g0124	3	440	0.0068	-48	c.-41 others(59): Show c.-4177_-4130delCAATCCCAGCGTGGCCCACGTCTCCAATCCCAGC GTGGCTCAAGCCTG	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		4177		chr22	TogoVar
PAPPA_chr9_116148791_116407321	116405025	GATCATAG others(41): Show GATCATAGCCTCTTACATGCTGTGTTACCATGCAGTGCTGGTAATGTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	234	0.0043	-48	c.84 others(59): Show c.8410_*8457delATCATAGCCTCTTACATGCTGTGTTACCATGCAG TGCTGGTAATGTTC	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding		2705		chr9	TogoVar
PAQR5_chr15_69293912_69412780	69355296	CTTTCTTT others(41): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp1 HG01496.hp2 others(5): Show HG01261.hp2 HG01433.hp1 HG01496.hp2 HG02486.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0238 a0001c0001t0001g0252 a0001c0001t0001g0276 others(5): Show a0001c0001t0001g0238 a0001c0001t0001g0252 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0002g0015 a0001c0001t0002g0124 a0001c0001t0002g0125	8	284	0.0282	-48	c.-11 others(67): Show c.-115-4624_-115-4577delTTTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR6_chr1_156238320_156253056	156249901	AAGCTAGA others(41): Show AAGCTAGACAGAGGGAGACACAAAGCAGAAGTGGGGCAATGGGATGTGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	-48	c.-20 others(59): Show c.-2018_-1971delGCACATCCCATTGCCCCACTTCTGCTTTGTGTCT CCCTCTGTCTAGCT	PAQR6	ENSG00000160781.17	transcript	ENST00000292291.10	protein_coding		1846		chr1	TogoVar
PARP12_chr7_140018749_140067951	140035999	GAGAAGGA others(41): Show GAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01884.hp1 HG02622.hp2 others(3): Show HG01123.hp1 HG01884.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0012 a0001c0003t0003 a0001c0002t0012 a0001c0003t0003	a0001c0002t0012g0252 a0001c0003t0003g0030 a0001c0003t0003g0193 others(2): Show a0001c0002t0012g0252 a0001c0003t0003g0030 a0001c0003t0003g0193 a0001c0003t0003g0194 a0001c0003t0003g0195	6	360	0.0167	-48	c.132 others(67): Show c.1324+1668_1325-1669delTCTCCTCCTTCTCCTCCTTCTCCTCC TTCTCCTCCTTCTCCTCCTTCT	PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11			chr7	TogoVar
PARP6_chr15_72236181_72277554	72275712	ACTTTCTT others(41): Show ACTTTCTTGTCTTCAGTTGTTCCTTAAATCTGGTGTCATCTGACCTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	396	0.0025	-48	c.-38 others(59): Show c.-3827_-3780delGAGAGGTCAGATGACACCAGATTTAAGGAACAAC TGAAGACAAGAAAG	PARP6	ENSG00000137817.17	transcript	ENST00000569795.6	protein_coding		3159		chr15	TogoVar
PARP6_chr15_72236181_72277554	72275860	AGTGTCAT others(41): Show AGTGTCATTTGGCATTGTCAATCATCTTGCCCCTGCAGTTGACTGCATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02970.hp1 HG03453.hp2 others(1): Show HG02896.hp1 HG02970.hp1 HG03453.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0119 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0161	4	396	0.0101	-48	c.-39 others(59): Show c.-3975_-3928delCATGCAGTCAACTGCAGGGGCAAGATGATTGACA ATGCCAAATGACAC	PARP6	ENSG00000137817.17	transcript	ENST00000569795.6	protein_coding		3307		chr15	TogoVar
PARVB_chr22_44019302_44177939	44056921	CGAGCTGG others(41): Show CGAGCTGGGGGCTGAGCTGGGGGTGGAGCTGGGGGCTGAGCTGGGGGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01099.hp1 others(21): Show HG00323.hp1 HG00642.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG03139.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 NA20752.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0012	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0028 a0002c0003 a0009c0026 a0012c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0068 a0001c0002t0003 a0001c0002t0022 a0001c0002t0060 a0001c0007t0013 a0001c0008t0002 a0001c0028t0015 a0002c0003t0001 a0002c0003t0006 a0002c0003t0022 a0009c0026t0001 a0012c0032t0070	a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0316 others(21): Show a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0316 a0001c0001t0002g0198 a0001c0001t0002g0206 a0001c0001t0004g0226 a0001c0001t0004g0233 a0001c0001t0005g0227 a0001c0001t0011g0178 a0001c0001t0068g0329 a0001c0002t0003g0176 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0022g0177 a0001c0002t0060g0280 a0001c0007t0013g0088 a0001c0008t0002g0032 a0001c0028t0015g0102 a0002c0003t0001g0063 a0002c0003t0006g0112 a0002c0003t0006g0281 a0002c0003t0022g0026 a0009c0026t0001g0277 a0012c0032t0070g0162	24	332	0.0723	-48	c.112 others(67): Show c.112+32541_112+32588delTGGAGCTGGGGGCTGAGCTGGGGGTG GAGCTGGGGGCTGAGCTGGGGG	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44127742	ATTGCCCA others(41): Show ATTGCCCAGAGTGAACCAGCAGGACCCCTGAGGAGTCCCTCTTCTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG01884.hp2 others(11): Show HG01109.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02486.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03490.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0028 a0001c0001 a0001c0002 a0001c0028	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(10): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0021 a0001c0001t0033 a0001c0001t0068 a0001c0001t0081 a0001c0001t0087 a0001c0002t0001 a0001c0002t0066 a0001c0002t0084 a0001c0028t0015	a0001c0001t0002g0206 a0001c0001t0006g0187 a0001c0001t0009g0193 others(11): Show a0001c0001t0002g0206 a0001c0001t0006g0187 a0001c0001t0009g0193 a0001c0001t0016g0183 a0001c0001t0021g0090 a0001c0001t0033g0209 a0001c0001t0068g0329 a0001c0001t0081g0103 a0001c0001t0087g0330 a0001c0002t0001g0123 a0001c0002t0001g0160 a0001c0002t0066g0105 a0001c0002t0084g0073 a0001c0028t0015g0102	14	332	0.0422	-48	c.377 others(65): Show c.377-3742_377-3695delGCCCAGAGTGAACCAGCAGGACCCCTGA GGAGTCCCTCTTCTTTTTTT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PATL1_chr11_59631716_59674037	59672318	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATGGTTTTTTTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0163 a0001c0009t0001g0163	1	276	0.0036	-48	c.-34 others(59): Show c.-3471_-3424delCAAAAAAAACCATATATATATATATATATATATA TATATATATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3282		chr11	TogoVar
PAWR_chr12_79579879_79695964	79613943	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	256	0.0039	-48	c.649 others(63): Show c.649-382_649-335delAAAAAAAAAAAATATATATATATATATATA TATATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613947	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	256	0.0039	-48	c.649 others(63): Show c.649-386_649-339delAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613951	ATATATAT others(41): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0168 a0003c0004t0007g0168	1	256	0.0039	-48	c.649 others(63): Show c.649-390_649-343delAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAXBP1_chr21_32728899_32776755	32771859	TGAGAGAG others(41): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	360	0.0028	-48	c.-23 others(57): Show c.-239_-192delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		105		chr21	TogoVar
PAXBP1_chr21_32728899_32776755	32771901	AGAGAGAG others(41): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02145.hp2 HG02622.hp1 others(3): Show HG01106.hp1 HG02145.hp2 HG02622.hp1 NA18952.hp2 NA18960.hp2 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0025 a0002c0005t0001g0038	6	360	0.0167	-48	c.-28 others(57): Show c.-281_-234delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		147		chr21	TogoVar
PBX3_chr9_125742373_125972377	125779893	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	294	0.0034	-48	c.274 others(67): Show c.274+31298_274+31345delTCTGGCCGGGCGGGGGGCTGACCCCC CACCTCCCTCCCGGACGGGGCG	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45918448	AGGAAGAA others(41): Show AGGAAGAAGTTACTCTCAGATAAACGGTCGGTGTAATTCCAGTGCTGGG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	292	0.0034	-48	c.717 others(63): Show c.717+880_717+927delTCTCAGATAAACGGTCGGTGTAATTCCAGT GCTGGGGGAAGAAGTTAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45918569	GGTCGGTG others(41): Show GGTCGGTGTAATTCCAGTGCTGGGGGAAGAAGTTACCCTCAGATAAACC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(115): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18959.hp1 NA18962.hp1 NA18969.hp1 NA18983.hp2 NA18998.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0003t0014 a0001c0003t0020 a0001c0004t0002	a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0002g0010 others(115): Show a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0003g0007 a0001c0001t0003g0036 a0001c0001t0003g0051 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0079 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0004g0004 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0286 a0001c0001t0005g0292 a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0258 a0001c0001t0008g0113 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0018g0266 a0001c0003t0014g0290 a0001c0003t0014g0291 a0001c0003t0020g0222 a0001c0004t0002g0086 a0001c0004t0002g0087	118	292	0.4041	-48	c.717 others(65): Show c.717+1024_717+1071delCCTCAGATAAACCGTCGGTGTAATTCCA GTGCTGGGGGAAGAAGTTAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100264086	CGGTATCT others(41): Show CGGTATCTGTATATCGTATATATACGGTATCTGTATATCGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02300.hp2 NA18956.hp2 others(1): Show HG02132.hp1 HG02300.hp2 NA18956.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0065	4	174	0.0230	-48	c.819 others(65): Show c.819+1279_819+1326delCGGTATCTGTATATCGTATATATATGGT ATCTGTATATCGTATATATA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100264110	CGGTATCT others(41): Show CGGTATCTGTATATCGTATATATATGGTATCTGTATATCGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02735.hp1 HG02735.hp2 others(5): Show HG00099.hp1 HG02735.hp1 HG02735.hp2 HG03239.hp2 HG03654.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0110 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0005g0030	8	174	0.0460	-48	c.819 others(65): Show c.819+1302_819+1349delATGGTATCTGTATATCGTATATATATGG TATCTGTATATCGTATATAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100264172	CGTATATA others(41): Show CGTATATATGTGATATCTGTATATCATATATGTGATATCTGTATCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01169.hp1 others(4): Show HG00639.hp1 HG01099.hp2 HG01169.hp1 HG01346.hp1 HG01358.hp1 HG03490.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0054 a0001c0002t0001g0073 a0001c0002t0001g0086 others(4): Show a0001c0001t0001g0054 a0001c0002t0001g0073 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095	7	174	0.0402	-48	c.819 others(65): Show c.819+1342_819+1389delGTATATATGTGATATCTGTATATCATAT ATGTGATATCTGTATCTCAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23			chr13	TogoVar
PCDH11X_chrX_91774375_92628230	92484169	ATATATAT others(41): Show ATATATATGTATGTATATATATGTATATATGTATATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp1 HG03130.hp1 others(1): Show HG02145.hp1 HG02895.hp1 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0002t0008 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0008 a0001c0003t0001	a0001c0001t0002g0076 a0001c0001t0006g0022 a0001c0002t0008g0004 others(1): Show a0001c0001t0002g0076 a0001c0001t0006g0022 a0001c0002t0008g0004 a0001c0003t0001g0145	4	154	0.0260	-48	c.336 others(69): Show c.3367+15859_3367+15906delGTATATATATGTATATATGTATAT ATGTATATATATGTATATATGTAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	54307056	ATATATAT others(41): Show ATATATATATATATATATATATATACATATATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03098.hp1 HG01261.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0009 a0001c0001t0020 a0002c0002t0009	a0001c0001t0020g0095 a0002c0002t0009g0027 a0001c0001t0020g0095 a0002c0002t0009g0027	2	102	0.0196	-48	c.876 others(67): Show c.876+10167_876+10214delCACACACACACATATATATATATGTA TATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307056	ATATATAT others(41): Show ATATATATATATATATATATATATACATATATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03098.hp1 HG01261.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0029 a0001c0007 a0002c0029	a0001c0007t0001 a0002c0029t0001 a0001c0007t0001 a0002c0029t0001	a0001c0007t0001g0087 a0002c0029t0001g0024 a0001c0007t0001g0087 a0002c0029t0001g0024	2	94	0.0213	-48	c.876 others(67): Show c.876+10167_876+10214delCACACACACACATATATATATATGTA TATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCDHA10_chr5_140850897_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	260	0.0039	-48	c.238 others(69): Show c.2389-52791_2389-52744delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA11_chr5_140863957_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0231 a0001c0002t0001g0231	1	260	0.0039	-48	c.239 others(69): Show c.2392-52791_2392-52744delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	260	0.0039	-48	c.236 others(69): Show c.2367+48319_2367+48366delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0186 a0007c0011t0001g0186	1	260	0.0039	-48	c.239 others(69): Show c.2394+41496_2394+41543delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	200	0.0050	-48	c.239 others(69): Show c.2395-52791_2395-52744delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA2_chr5_140789852_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	202	0.0050	-48	c.238 others(69): Show c.2389-52791_2389-52744delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA2	ENSG00000204969.7	transcript	ENST00000526136.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA3_chr5_140796057_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0140 a0002c0002t0002g0140	1	208	0.0048	-48	c.239 others(69): Show c.2395-52791_2395-52744delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA3	ENSG00000255408.4	transcript	ENST00000522353.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA4_chr5_140802068_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	212	0.0047	-48	c.238 others(69): Show c.2386-52791_2386-52744delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA4	ENSG00000204967.13	transcript	ENST00000530339.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA5_chr5_140816613_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	1	220	0.0046	-48	c.235 others(69): Show c.2353-52791_2353-52744delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA5	ENSG00000204965.9	transcript	ENST00000529859.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA6_chr5_140822960_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	236	0.0042	-48	c.239 others(69): Show c.2395-52791_2395-52744delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA6	ENSG00000081842.18	transcript	ENST00000529310.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA7_chr5_140829269_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	248	0.0040	-48	c.235 others(69): Show c.2356-52791_2356-52744delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	258	0.0039	-48	c.239 others(69): Show c.2395-52791_2395-52744delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA9_chr5_140843382_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0020 a0020	a0020c0025 a0020c0025	a0020c0025t0001 a0020c0025t0001	a0020c0025t0001g0023 a0020c0025t0001g0023	1	256	0.0039	-48	c.239 others(69): Show c.2395-52791_2395-52744delAGCAGGATCCAGCGCGGAAAGCCC CCCGCAGCACTTCTTTCGGGGGGC	PCDHA9	ENSG00000204961.7	transcript	ENST00000532602.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHAC1_chr5_140921299_141017347	140926155	TGCAGCAG others(41): Show TGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCACTTCTTTCGGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03942.hp2 HG03710.hp2 HG03942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0085 a0002c0001t0001g0086	2	280	0.0071	-48	c.-73 others(57): Show c.-737_-690delGCAGCAGGATCCAGCGCGGAAAGCCCCCCGCAGCAC TTCTTTCGGGGG	PCDHAC1	ENSG00000248383.5	transcript	ENST00000253807.3	protein_coding		143		chr5	TogoVar
PCDHGA1_chr5_141325514_141517975	141347101	CTCTCTCT others(41): Show CTCTCTCTTTCCTCCTTCCTTCCTTCCTCTGTTTCTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0238 a0003c0004t0001g0238	1	268	0.0037	-48	c.242 others(69): Show c.2421+14000_2421+14047delCTCTTTCCTCCTTCCTTCCTTCCT CTGTTTCTCTCTTTCTTTCTTTCT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141347101	CTCTCTCT others(41): Show CTCTCTCTTTCCTCCTTCCTTCCTTCCTCTGTTTCTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	272	0.0037	-48	c.242 others(67): Show c.2424+5710_2424+5757delCTCTTTCCTCCTTCCTTCCTTCCTCT GTTTCTCTCTTTCTTTCTTTCT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141347101	CTCTCTCT others(41): Show CTCTCTCTTTCCTCCTTCCTTCCTTCCTCTGTTTCTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0269 a0003c0003t0001g0269	1	270	0.0037	-48	c.242 others(65): Show c.2424+648_2424+695delCTCTTTCCTCCTTCCTTCCTTCCTCTGT TTCTCTCTTTCTTTCTTTCT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141347101	CTCTCTCT others(41): Show CTCTCTCTTTCCTCCTTCCTTCCTTCCTCTGTTTCTCTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0011 a0002c0004t0001g0011	1	278	0.0036	-48	c.-31 others(59): Show c.-3159_-3112delTCTCTCTTTCCTCCTTCCTTCCTTCCTCTGTTTC TCTCTTTCTTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding		2997		chr5	TogoVar
PCED1A_chr20_2830314_2845655	2842801	TATAGATG others(41): Show TATAGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	436	0.0023	-48	c.-26 others(59): Show c.-2660_-2613delCTATCGATAGATACATCTATATGTCTATCTATAG ATAGATACATCTAT	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2147		chr20	TogoVar
PCMT1_chr6_149744741_149816419	149786168	CCCCCAAC others(41): Show CCCCCAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	334	0.0030	-48	c.193 others(65): Show c.193-3781_193-3734delAACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCC	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCMTD1_chr8_51812583_51904036	51891668	AACAAAAA others(41): Show AACAAAAAATATATATATACATATATATGTATATATATATATATAGCTT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0270 a0001c0001t0014g0270	1	336	0.0030	-48	c.-96 others(65): Show c.-96+7214_-96+7261delAAGCTATATATATATATATACATATATA TGTATATATATATTTTTTGT	PCMTD1	ENSG00000168300.14	transcript	ENST00000522514.6	protein_coding	1/5			chr8	TogoVar
PCSK5_chr9_75885673_76367975	76040337	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA20129.hp2 HG02109.hp2 NA20129.hp2	a0003 a0009 a0003 a0009	a0003c0057 a0009c0078 a0003c0057 a0009c0078	a0003c0057t0018 a0009c0078t0001 a0003c0057t0018 a0009c0078t0001	a0003c0057t0018g0056 a0009c0078t0001g0007 a0003c0057t0018g0056 a0009c0078t0001g0007	2	166	0.0121	-48	c.632 others(67): Show c.632+13329_632+13376delTCTCTCTCTCTCTCTCTCTGTCTCTC TCTCTCTCTCTCTCTCTCTCTC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101310307	CCAAAGAG others(41): Show CCAAAGAGAGGTTTGCGGTGGGGCTGCCCGCCTGCTGCCTCCTGAGGGG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0015 a0015	a0015c0040 a0015c0040	a0015c0040t0003 a0015c0040t0003	a0015c0040t0003g0101 a0015c0040t0003g0101	1	336	0.0030	-48	c.269 others(67): Show c.2699+3021_2700-2983delCCCCTCAGGAGGCAGCAGGCGGGCAG CCCCACCGCAAACCTCTCTTTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar

Search by Variant

Search

Search Results (Total: 2076 hits)