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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTCTTTCTTTCTTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0199 a0001c0001t0004g0199	1	250	0.0040	38	c.118 others(57): Show c.118+30018_118+30019insCTTTCTTTCTTTCTTCTTTCTTTCTT TCCTTTCTTTCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635194	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01175.hp2 others(15): Show HG00621.hp2 HG00735.hp1 HG01175.hp2 HG01243.hp1 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG02071.hp2 HG02132.hp1 HG02602.hp2 HG02698.hp1 HG02818.hp1 NA18956.hp2 NA18983.hp2 NA18988.hp2 NA19066.hp2 NA19074.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0002c0002t0003 a0002c0002t0008 a0003c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0058 others(15): Show a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0101 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0002g0218 a0001c0001t0002g0238 a0001c0001t0003g0091 a0001c0001t0003g0247 a0001c0001t0004g0004 a0001c0001t0004g0052 a0001c0001t0004g0057 a0001c0001t0009g0214 a0002c0002t0003g0059 a0002c0002t0008g0225 a0003c0004t0001g0096	18	250	0.0720	38	c.118 others(57): Show c.118+30063_118+30064insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHEX_chrX_22027325_22256310	22249455	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0118 a0001c0001t0135g0118	1	231	0.0043	38	c.15 others(49): Show c.1503_*1504insAAAAAATATATATATATATATATATATATATATA TATA	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22	1504	INFO_REALIGN_3_PRIME	chrX	TogoVar
PHF14_chr7_10968872_11174618	10985636	C C	CCGGTTTT others(31): Show CCGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	38	c.900 others(55): Show c.900+2477_900+2478insCGGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	3/17			chr7	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(31): Show TATATATATATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02970.hp2 HG02896.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0248 a0001c0001t0001g0257	2	298	0.0067	38	c.277 others(59): Show c.2772+10886_2772+10887insTATATATATATATATATATATACA CACACACACACACA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(31): Show TATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02132.hp1 HG02074.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0070 a0001c0002t0001g0071	2	298	0.0067	38	c.277 others(59): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA CACACACACACACA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(31): Show TATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01978.hp2 HG02257.hp2 others(1): Show HG01943.hp2 HG01978.hp2 HG02257.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0002t0001g0078 others(1): Show a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0002t0001g0078 a0001c0002t0001g0079	4	298	0.0134	38	c.277 others(59): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA TACACACACACACA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	298	0.0034	38	c.277 others(59): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA TATACACACACACA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF21B_chr22_44876162_45015005	44947971	G G	GCCTCCTC others(31): Show GCCTCCTCCCCGCTGTTGTCCCTCCTCCCCACTGTTGTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG02615.hp2 others(2): Show HG01243.hp2 HG02451.hp2 HG02615.hp2 HG03130.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0011 a0002c0003t0017 others(1): Show a0001c0001t0001 a0002c0003t0011 a0002c0003t0017 a0002c0003t0018	a0001c0001t0001g0238 a0002c0003t0011g0237 a0002c0003t0011g0239 others(2): Show a0001c0001t0001g0238 a0002c0003t0011g0237 a0002c0003t0011g0239 a0002c0003t0017g0007 a0002c0003t0018g0023	5	300	0.0167	38	c.121 others(57): Show c.121-27482_121-27481insGACAACAGTGGGGAGGAGGGACAACA GCGGGGAGGAGG	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44947971	G G	GCCTCCTC others(31): Show GCCTCCTCCCCGCTGTTGTCCCTCCTCCCCGCTGTTGTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01099.hp2 HG01109.hp1 others(17): Show HG00423.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG02257.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG03195.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03942.hp1 HG04204.hp1 NA18984.hp1 NA19056.hp2 NA19080.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0006t0002 a0001c0006t0003 a0002c0003t0032	a0001c0001t0001g0040 a0001c0001t0001g0262 a0001c0001t0001g0263 others(17): Show a0001c0001t0001g0040 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0003g0261 a0001c0001t0025g0276 a0001c0001t0025g0287 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0004g0232 a0001c0002t0005g0257 a0001c0002t0005g0258 a0001c0002t0005g0259 a0001c0002t0005g0269 a0001c0006t0002g0260 a0001c0006t0003g0255 a0002c0003t0032g0256	20	300	0.0667	38	c.121 others(57): Show c.121-27519_121-27482dupGACAACAGCGGGGAGGAGGGACAACA GCGGGGAGGAGG	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF3_chr6_63630802_63731011	63727737	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0123 a0001c0001t0023g0123	1	320	0.0031	38	c.14 others(51): Show c.14029_*14030insATATATATATATATATATATATATATATATAT ATATAT	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding		1727		chr6	TogoVar
PHLDA3_chr1_201459278_201474188	201466588	T T	TAAGGCTA others(31): Show TAAGGCTAGAAGGAAGGCTAAATCCTTTCTCAGCCCTAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	442	0.0023	38	c.63 others(53): Show c.63-448_*63-411dupGTAGGGCTGAGAAAGGATTTAGCCTTCCTT CTAGCCTT	PHLDA3	ENSG00000174307.7	transcript	ENST00000367311.5	protein_coding	1/1			chr1	TogoVar
PHLDB3_chr19_43470103_43509746	43495140	G G	GGTCTGAG others(31): Show GGTCTGAGGGGAGGAGGAGACTCGGGGCAGGACCCCTGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0078 a0001c0010t0002g0078	1	396	0.0025	38	c.103 others(55): Show c.1035+115_1035+116insTCAGGGGTCCTGCCCCGAGTCTCCTCCT CCCCTCAGAC	PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding	8/15			chr19	TogoVar
PHRF1_chr11_571470_617222	576745	G G	GCTGGGAG others(31): Show GCTGGGAGGCCCCGCCGAGACTGGGAGGCCCCGCCGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01981.hp1 HG02080.hp2 others(4): Show HG00438.hp2 HG01981.hp1 HG02080.hp2 HG02165.hp2 HG02717.hp1 HG03831.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0011 a0001c0001 a0002c0002 a0002c0011	a0001c0001t0001 a0002c0002t0001 a0002c0011t0001 a0001c0001t0001 a0002c0002t0001 a0002c0011t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(4): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0002c0002t0001g0059 a0002c0011t0001g0065	7	279	0.0251	38	c.-22 others(53): Show c.-22+298_-22+335dupCGCCGAGACTGGGAGGCCCCGCCGAGACTG GGAGGCCC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	600493	A A	AATAAATA others(31): Show AATAAATAAATAAATAAATATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0178 a0006c0008t0004g0178	1	279	0.0036	38	c.102 others(57): Show c.1025-1078_1025-1077insAATAAATAAATAAATATACATATATA TATATATATATA	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHTF2_chr7_77793773_77962225	77834320	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATTTTAAACGGAAGGAAGAAGCAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	314	0.0032	38	c.-35 others(55): Show c.-35-5900_-35-5863dupAAAAAAAAAAAAAAATTTTAAACGGAAG GAAGAAGCAG	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHYKPL_chr5_178203471_178237802	178232400	C C	CGCGTGCG others(31): Show CGCGTGCGTAGTGCGTGCGTGCGTGCGTAGTGCGTGCGT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	440	0.0023	38	c.59+ others(49): Show c.59+91_59+92insACGCACGCACTACGCACGCACGCACGCACTACGC ACGC	PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding	1/12			chr5	TogoVar
PIAS1_chr15_68049315_68198847	68050494	C C	CATATATA others(31): Show CATATATATATGAATATATATATGAATATATATATTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0181 a0001c0001t0047g0181	1	260	0.0039	38	c.-38 others(49): Show c.-3833_-3832insATATATATATGAATATATATATGAATATATATAT TCAT	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding		3820		chr15	TogoVar
PIAS2_chr18_46798218_46922507	46807355	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0220 a0001c0002t0220	a0001c0002t0220g0121 a0001c0002t0220g0121	1	322	0.0031	38	c.50 others(49): Show c.5077_*5078insTATATATATATATATATATATATATATATATATA TATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5077		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0197 a0001c0001t0197	a0001c0001t0197g0048 a0001c0001t0197g0048	1	322	0.0031	38	c.50 others(49): Show c.5049_*5050insAAAATATATATATATATATATATATATATATATA TATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0186 a0001c0001t0186	a0001c0001t0186g0049 a0001c0001t0186g0049	1	322	0.0031	38	c.50 others(49): Show c.5049_*5050insAAAAAATATATATATATATATATATATATATATA TATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19004.hp2 HG01358.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0124 a0001c0001t0002g0114 a0001c0001t0002g0124	2	346	0.0058	38	c.148 others(57): Show c.1489-4073_1489-4072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72927996	C C	CATATATA others(31): Show CATATATATATACATATATATACATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0198 a0001c0001t0009g0198	1	346	0.0029	38	c.173 others(57): Show c.1731-3160_1731-3159insTACATATATATACATATATATACATA TATATATATATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72931718	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0031 a0002c0002t0003g0031	1	346	0.0029	38	c.183 others(55): Show c.1833+476_1833+477insATATATATATATATATATATATATATAT ATATATATAT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	73015245	A A	ACCTCCCA others(31): Show ACCTCCCAAAGTCCTGGGATTACAGGCATGAGCCACCGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0185 a0002c0002t0003g0185	1	346	0.0029	38	c.222 others(55): Show c.2224-623_2224-586dupCCTCCCAAAGTCCTGGGATTACAGGCAT GAGCCACCGC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(31): Show CACACACACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0053 a0003c0012t0001g0053	1	158	0.0063	38	c.719 others(55): Show c.7191-400_7191-399insATATATATATATATATATATATATGTGT GTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(31): Show CACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0113 a0001c0007t0001g0113	1	158	0.0063	38	c.719 others(55): Show c.7191-400_7191-399insATATATATATATATATATATATATATGT GTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(31): Show CACACACACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02622.hp2 HG01106.hp1 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0018 a0001c0002 a0002c0018	a0001c0002t0001 a0002c0018t0002 a0001c0002t0001 a0002c0018t0002	a0001c0002t0001g0108 a0002c0018t0002g0068 a0001c0002t0001g0108 a0002c0018t0002g0068	2	158	0.0127	38	c.719 others(55): Show c.7191-400_7191-399insATATATATATATATATATATATATATAT ATGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACATATA others(31): Show CACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0088 a0001c0021t0002g0088	1	158	0.0063	38	c.719 others(55): Show c.7191-400_7191-399insATATATATATATATATATATATATATAT ATATATATGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720234	G G	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp1 HG01123.hp1 HG01496.hp1	a0001 a0004 a0001 a0004	a0001c0028 a0004c0005 a0001c0028 a0004c0005	a0001c0028t0001 a0004c0005t0002 a0001c0028t0001 a0004c0005t0002	a0001c0028t0001g0126 a0004c0005t0002g0045 a0001c0028t0001g0126 a0004c0005t0002g0045	2	158	0.0127	38	c.503 others(57): Show c.5030-1976_5030-1975insTATATATATATATATATATATATATA TATACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10757523	G G	GATGGGGA others(31): Show GATGGGGATGAGGATGAGCTATGGGGATGAGGATGAGCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0014 a0014	a0014c0036 a0014c0036	a0014c0036t0002 a0014c0036t0002	a0014c0036t0002g0037 a0014c0036t0002g0037	1	158	0.0063	38	c.392 others(55): Show c.3923+408_3923+445dupAGCTCATCCTCATCCCCATAGCTCATCC TCATCCCCAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	27/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886323	C C	CATACATA others(31): Show CATACATATATATATATATATATATATATATATACACAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00558.hp1 HG00558.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0004c0005 a0001c0007 a0004c0005	a0001c0007t0001 a0004c0005t0002 a0001c0007t0001 a0004c0005t0002	a0001c0007t0001g0041 a0004c0005t0002g0006 a0001c0007t0001g0041 a0004c0005t0002g0006	2	158	0.0127	38	c.330 others(57): Show c.330-14909_330-14908insATGTGTATATATATATATATATATAT ATATATATGTAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886323	C C	CATACATA others(31): Show CATACATATATATATATATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18970.hp2 HG02129.hp2 NA18970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0057 a0002c0001t0001g0135 a0002c0001t0001g0057 a0002c0001t0001g0135	2	158	0.0127	38	c.330 others(57): Show c.330-14909_330-14908insATGTATATATATATATATATATATAT ATATATATGTAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886343	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATACACATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02818.hp1 others(3): Show HG01884.hp2 HG02280.hp1 HG02818.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp2	a0001 a0014 a0018 others(1): Show a0001 a0014 a0018 a0026	a0001c0002 a0001c0003 a0001c0040 others(3): Show a0001c0002 a0001c0003 a0001c0040 a0014c0057 a0018c0030 a0026c0061	a0001c0002t0001 a0001c0003t0002 a0001c0040t0001 others(3): Show a0001c0002t0001 a0001c0003t0002 a0001c0040t0001 a0014c0057t0002 a0018c0030t0003 a0026c0061t0008	a0001c0002t0001g0096 a0001c0003t0002g0029 a0001c0040t0001g0106 others(3): Show a0001c0002t0001g0096 a0001c0003t0002g0029 a0001c0040t0001g0106 a0014c0057t0002g0112 a0018c0030t0003g0025 a0026c0061t0008g0109	6	158	0.0380	38	c.330 others(57): Show c.330-14929_330-14928insGTGTATGTGTATATATATATATATAT ATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(31): Show ATGTGTGTATATATATATATACACACACACATATATGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(41): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01496.hp1 HG01517.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02615.hp1 HG02630.hp1 HG02886.hp2 HG02895.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 NA18941.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18970.hp2 NA18994.hp2 NA18998.hp2 NA19005.hp2 NA19043.hp1 NA21309.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0015 a0019 a0021 a0023 a0024 a0027 a0031 a0032	a0001c0002 a0001c0007 a0001c0028 others(31): Show a0001c0002 a0001c0007 a0001c0028 a0001c0033 a0001c0044 a0001c0087 a0002c0001 a0002c0015 a0002c0069 a0002c0071 a0002c0076 a0003c0009 a0003c0011 a0003c0012 a0004c0005 a0004c0022 a0005c0008 a0005c0013 a0006c0004 a0007c0042 a0007c0086 a0009c0010 a0009c0032 a0010c0014 a0012c0078 a0013c0089 a0015c0025 a0019c0029 a0021c0031 a0023c0048 a0024c0092 a0027c0081 a0031c0062 a0032c0052	a0001c0002t0001 a0001c0007t0001 a0001c0028t0001 others(33): Show a0001c0002t0001 a0001c0007t0001 a0001c0028t0001 a0001c0033t0002 a0001c0044t0002 a0001c0087t0001 a0002c0001t0001 a0002c0015t0002 a0002c0069t0001 a0002c0071t0002 a0002c0076t0002 a0003c0009t0001 a0003c0011t0001 a0003c0012t0001 a0004c0005t0001 a0004c0005t0002 a0004c0022t0002 a0005c0008t0001 a0005c0013t0001 a0006c0004t0003 a0007c0042t0001 a0007c0086t0001 a0009c0010t0001 a0009c0010t0002 a0009c0032t0003 a0010c0014t0002 a0012c0078t0002 a0013c0089t0002 a0015c0025t0001 a0019c0029t0002 a0021c0031t0001 a0023c0048t0001 a0024c0092t0002 a0027c0081t0002 a0031c0062t0001 a0032c0052t0001	a0001c0002t0001g0108 a0001c0007t0001g0041 a0001c0007t0001g0100 others(41): Show a0001c0002t0001g0108 a0001c0007t0001g0041 a0001c0007t0001g0100 a0001c0028t0001g0126 a0001c0033t0002g0035 a0001c0044t0002g0073 a0001c0087t0001g0033 a0002c0001t0001g0011 a0002c0001t0001g0135 a0002c0015t0002g0107 a0002c0015t0002g0145 a0002c0069t0001g0136 a0002c0071t0002g0125 a0002c0076t0002g0111 a0003c0009t0001g0052 a0003c0009t0001g0083 a0003c0011t0001g0034 a0003c0012t0001g0032 a0003c0012t0001g0053 a0003c0012t0001g0098 a0004c0005t0001g0137 a0004c0005t0002g0045 a0004c0022t0002g0042 a0005c0008t0001g0023 a0005c0008t0001g0157 a0005c0013t0001g0049 a0006c0004t0003g0084 a0007c0042t0001g0020 a0007c0086t0001g0009 a0009c0010t0001g0076 a0009c0010t0002g0075 a0009c0010t0002g0154 a0009c0032t0003g0086 a0010c0014t0002g0005 a0012c0078t0002g0141 a0013c0089t0002g0060 a0015c0025t0001g0050 a0019c0029t0002g0058 a0021c0031t0001g0066 a0023c0048t0001g0047 a0024c0092t0002g0046 a0027c0081t0002g0095 a0031c0062t0001g0016 a0032c0052t0001g0097	44	158	0.2785	38	c.330 others(57): Show c.330-14954_330-14953insCACATATATGTGTGTGTGTATATATA TATATACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(31): Show ATGTGTGTGTGTATATACATATACACACACATATATATG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp2 HG03017.hp1 HG00639.hp2 HG01175.hp2 HG03017.hp1	a0002 a0003 a0030 a0002 a0003 a0030	a0002c0001 a0003c0011 a0030c0091 a0002c0001 a0003c0011 a0030c0091	a0002c0001t0005 a0003c0011t0001 a0030c0091t0001 a0002c0001t0005 a0003c0011t0001 a0030c0091t0001	a0002c0001t0005g0008 a0003c0011t0001g0054 a0030c0091t0001g0019 a0002c0001t0005g0008 a0003c0011t0001g0054 a0030c0091t0001g0019	3	158	0.0190	38	c.330 others(57): Show c.330-14954_330-14953insCATATATATGTGTGTGTATATGTATA TACACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(31): Show ATGTGTGTGTGTATATATATATACACACACATATATATG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp1 HG02922.hp2 others(3): Show HG02258.hp1 HG02896.hp1 HG02922.hp2 HG03516.hp1 HG03516.hp2 NA19043.hp2	a0002 a0004 a0006 others(2): Show a0002 a0004 a0006 a0014 a0025	a0002c0001 a0004c0075 a0006c0004 others(2): Show a0002c0001 a0004c0075 a0006c0004 a0014c0036 a0025c0053	a0002c0001t0002 a0004c0075t0002 a0006c0004t0001 others(2): Show a0002c0001t0002 a0004c0075t0002 a0006c0004t0001 a0014c0036t0002 a0025c0053t0002	a0002c0001t0002g0040 a0002c0001t0002g0146 a0004c0075t0002g0072 others(3): Show a0002c0001t0002g0040 a0002c0001t0002g0146 a0004c0075t0002g0072 a0006c0004t0001g0152 a0014c0036t0002g0037 a0025c0053t0002g0067	6	158	0.0380	38	c.330 others(57): Show c.330-14954_330-14953insCATATATATGTGTGTGTATATATATA TACACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886386	A A	ATATACAC others(31): Show ATATACACACACATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0120 a0006c0004t0001g0120	1	158	0.0063	38	c.330 others(57): Show c.330-14972_330-14971insCACACACACACACACACACATATATA TGTGTGTGTATA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886388	A A	ACACACAC others(31): Show ACACACACACATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0057 a0002c0001t0001g0057	1	158	0.0063	38	c.330 others(57): Show c.330-14974_330-14973insCACACACACACACACACACACACATA TATGTGTGTGTG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(31): Show CATATATATATATATATGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0002 a0002c0055t0002	a0002c0055t0002g0140 a0002c0055t0002g0140	1	158	0.0063	38	c.330 others(57): Show c.330-15073_330-15072insATATATATATATATATATATACATAT ATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886487	C C	CATATATA others(31): Show CATATATATATATGTGTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20300.hp1 HG03041.hp1 NA20300.hp1	a0004 a0014 a0004 a0014	a0004c0022 a0014c0083 a0004c0022 a0014c0083	a0004c0022t0002 a0014c0083t0002 a0004c0022t0002 a0014c0083t0002	a0004c0022t0002g0085 a0014c0083t0002g0132 a0004c0022t0002g0085 a0014c0083t0002g0132	2	158	0.0127	38	c.330 others(57): Show c.330-15073_330-15072insATATATATATATATATATATATACAC ATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIF1_chr15_64810632_64830647	64826701	T T	TACACACA others(31): Show TACACACACATATATATATACACACACATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0010 a0002c0002t0003g0010	1	348	0.0029	38	c.-11 others(49): Show c.-1153_-1152insGTATATATATATGTGTGTGTATATATATATGTGT GTGT	PIF1	ENSG00000140451.13	transcript	ENST00000559239.2	protein_coding		1055		chr15	TogoVar
PIGBOS1_chr15_55312184_55324123	55321271	A A	AATTATGG others(31): Show AATTATGGTTATTTGACTTGGGAATGGACAGAGAGACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	416	0.0024	38	c.-25 others(49): Show c.-2521_-2484dupCAGTCTCTCTGTCCATTCCCAAGTCAAATAACCA TAAT	PIGBOS1	ENSG00000225973.4	transcript	ENST00000436697.3	protein_coding		2149		chr15	TogoVar
PIGB_chr15_55314222_55360648	55355985	T T	TACAGTCT others(31): Show TACAGTCTGAACATTTCCAGTGTCAAAATACAAGAGCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0005 a0010c0012t0005	a0010c0012t0005g0220 a0010c0012t0005g0220	1	376	0.0027	38	c.55 others(47): Show c.553_*554insACAGTCTGAACATTTCCAGTGTCAAAATACAAGAGC TA	PIGB	ENSG00000069943.10	transcript	ENST00000164305.10	protein_coding		338		chr15	TogoVar
PIGV_chr1_26782950_26805659	26800260	T T	TAACAGTC others(31): Show TAACAGTCTCTTTAATAGTCTGGGAGAGGGACATGAAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp2 NA18974.hp1 HG02071.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	2	282	0.0071	38	c.24 others(49): Show c.2418_*2455dupACAGTCTCTTTAATAGTCTGGGAGAGGGACATGA AGGA	PIGV	ENSG00000060642.12	transcript	ENST00000674202.1	protein_coding	4/4	2456	INFO_REALIGN_3_PRIME	chr1	TogoVar
PIGZ_chr3_196941356_196973833	196948997	T T	TTCCCCTC others(31): Show TTCCCCTCCCCTCCCTTCCTTCCCTTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	424	0.0024	38	c.212 others(53): Show c.212-313_212-312insGGGAGGGGAGGGGAAGGGAAGGAAGGGAGG GGAGGGGA	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2			chr3	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	384	0.0026	38	c.18 others(47): Show c.185_*186insATATATATATATATATATATATATTTTTTTTTTTTT TT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0041 a0006c0006t0001g0041	1	384	0.0026	38	c.18 others(47): Show c.185_*186insATATATATATATATATATATATATATTTTTTTTTTT TT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02129.hp2 HG02056.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0106 a0001c0001t0001g0003 a0001c0001t0001g0106	2	384	0.0052	38	c.18 others(47): Show c.185_*186insATATATATATATATATATATATATATATTTTTTTTT TT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIK3C3_chr18_41950234_42092830	42076133	T T	TGCACATA others(31): Show TGCACATATATATATATATATGCACATATATATATGCAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp2 HG03486.hp1 others(1): Show HG02630.hp1 HG03041.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0322 a0001c0001t0008g0323 a0001c0001t0008g0332 others(1): Show a0001c0001t0008g0322 a0001c0001t0008g0323 a0001c0001t0008g0332 a0001c0001t0008g0335	4	340	0.0118	38	c.265 others(57): Show c.2650-4990_2650-4989insGCACATATATATATATATATGCACAT ATATATATGCAC	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	24/24			chr18	TogoVar

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