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	59822090	C C	CCAGCGAT others(33): Show CCAGCGATCCCACCCCCTCCGCAGCGATCCCACCCCCTCCG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0087 a0001c0003t0007g0087	1	250	0.0040	40	c.132 others(61): Show c.1329-14379_1329-14340dupCTCCGCAGCGATCCCACCCCCTCC GCAGCGATCCCACCCC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHC2_chr1_33318626_33436095	33356275	A A	ATATATAT others(33): Show ATATATATATATGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18979.hp1 NA18939.hp2 NA18979.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0221 a0001c0003t0003g0223 a0001c0003t0003g0221 a0001c0003t0003g0223	2	370	0.0054	40	c.977 others(57): Show c.977-1023_977-1022insCATATATATATATATATATATATATATA CATATATATATA	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	7/14			chr1	TogoVar
PHF12_chr17_28900250_28956518	28923653	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	232	0.0043	40	c.715 others(55): Show c.715+255_715+256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14			chr17	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG01981.hp1 others(1): Show HG01109.hp2 HG01891.hp2 HG01981.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0239 a0001c0002t0001g0062 a0001c0002t0001g0084 others(1): Show a0001c0001t0001g0239 a0001c0002t0001g0062 a0001c0002t0001g0084 a0001c0002t0001g0090	4	298	0.0134	40	c.277 others(61): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA TATACACACACACACA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHKA2_chrX_18887298_18989114	18957738	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	201	0.0050	40	c.79- others(55): Show c.79-3327_79-3326insTATATATATATATATATATATATATATATA TATATATATA	PHKA2	ENSG00000044446.12	transcript	ENST00000379942.5	protein_coding	1/32			chrX	TogoVar
PHLDA3_chr1_201459278_201474188	201473464	A A	ACAGTCCT others(33): Show ACAGTCCTCACCATCCCTTGAACTTGGCAACCATCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0025 a0004c0005t0025	a0004c0005t0025g0058 a0004c0005t0025g0058	1	442	0.0023	40	c.-46 others(51): Show c.-4679_-4678insAGGAAGGATGGTTGCCAAGTTCAAGGGATGGTGA GGACTG	PHLDA3	ENSG00000174307.7	transcript	ENST00000367311.5	protein_coding		4277		chr1	TogoVar
PHLDB2_chr3_111854265_111981517	111866014	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18975.hp1 HG02647.hp1 NA18975.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0029 a0001c0001 a0011c0029	a0001c0001t0001 a0011c0029t0027 a0001c0001t0001 a0011c0029t0027	a0001c0001t0001g0207 a0011c0029t0027g0227 a0001c0001t0001g0207 a0011c0029t0027g0227	2	286	0.0070	40	c.-15 others(57): Show c.-15+6462_-15+6463insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	PHLDB2	ENSG00000144824.21	transcript	ENST00000431670.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PHLPP1_chr18_62710541_62985433	62849826	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	192	0.0052	40	c.190 others(61): Show c.1900-10608_1900-10607insTATATATATATATATATATATATA TATATATATATATATA	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP1_chr18_62710541_62985433	62849832	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18906.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0157 a0001c0001t0003g0079 a0001c0001t0003g0157	2	192	0.0104	40	c.190 others(61): Show c.1900-10593_1900-10592insATATATATATATATATATATATAT ATATATATATATATAT	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PHLPP2_chr16_71639924_71729701	71719964	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp2 HG02572.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0276 a0001c0001t0004g0277	2	324	0.0062	40	c.-7+ others(55): Show c.-7+4364_-7+4365insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	1/18			chr16	TogoVar
PHRF1_chr11_571470_617222	575902	C C	CGTGGGGG others(33): Show CGTGGGGGCGGGGCTGCGAGGGTGGGGGCGGGGCTGCGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 NA18522.hp1 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0008 a0001c0006t0002g0009 a0001c0006t0002g0008 a0001c0006t0002g0009	2	279	0.0072	40	c.-71 others(49): Show c.-712_-711insGTGGGGGCGGGGCTGCGAGGGTGGGGGCGGGGCTGC GAGG	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding		567		chr11	TogoVar
PHRF1_chr11_571470_617222	609822	A A	ACCGAGGA others(33): Show ACCGAGGACAGAGCCCCCCGTGAGTAGGGCCCTGGCCCCCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG03579.hp1 HG02257.hp1 HG02622.hp1 HG03579.hp1	a0011 a0024 a0011 a0024	a0011c0016 a0024c0037 a0011c0016 a0024c0037	a0011c0016t0001 a0024c0037t0001 a0011c0016t0001 a0024c0037t0001	a0011c0016t0001g0069 a0011c0016t0001g0087 a0024c0037t0001g0125 a0011c0016t0001g0069 a0011c0016t0001g0087 a0024c0037t0001g0125	3	279	0.0108	40	c.426 others(57): Show c.4264+138_4264+139insCCCGCCGAGGACAGAGCCCCCCGTGAGT AGGGCCCTGGCC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0212 a0001c0001t0212	a0001c0001t0212g0068 a0001c0001t0212g0068	1	322	0.0031	40	c.50 others(51): Show c.5049_*5050insAATATATATATATATATATATATATATATATATA TATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0198 a0001c0001t0198	a0001c0001t0198g0061 a0001c0001t0198g0061	1	322	0.0031	40	c.50 others(51): Show c.5049_*5050insAAAATATATATATATATATATATATATATATATA TATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0272 a0001c0001t0110g0272	1	322	0.0031	40	c.50 others(51): Show c.5049_*5050insAAAAAAAATATATATATATATATATATATATATA TATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0279 a0001c0001t0104g0279	1	322	0.0031	40	c.50 others(51): Show c.5049_*5050insAAAAAAAAAATATATATATATATATATATATATA TATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0291 a0001c0001t0102g0291	1	322	0.0031	40	c.50 others(51): Show c.5049_*5050insAAAAAAAAAAAATATATATATATATATATATATA TATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72895727	A A	ATCCAGAT others(33): Show ATCCAGATTGTGAATTTTAGCTCCAGATTGTGAATTTTAGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03704.hp1 HG03654.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0146 a0001c0001t0003g0135 a0001c0001t0001g0146 a0001c0001t0003g0135	2	346	0.0058	40	c.148 others(59): Show c.1488+1805_1488+1806insTGTGAATTTTAGCTCCAGATTGTGAA TTTTAGCTCCAGAT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	346	0.0029	40	c.148 others(59): Show c.1489-4073_1489-4072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(33): Show CACACACACACACACACACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0014 a0014	a0014c0036 a0014c0036	a0014c0036t0002 a0014c0036t0002	a0014c0036t0002g0037 a0014c0036t0002g0037	1	158	0.0063	40	c.719 others(57): Show c.7191-400_7191-399insATATATATATATATGTGTGTGTGTGTGT GTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(33): Show CACACACACACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0043 a0002c0001t0001g0043	1	158	0.0063	40	c.719 others(57): Show c.7191-400_7191-399insATATATATATATATATATATATATGTGT GTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(33): Show CACACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03492.hp2 HG02257.hp2 HG03492.hp2	a0001 a0007 a0001 a0007	a0001c0006 a0007c0090 a0001c0006 a0007c0090	a0001c0006t0001 a0007c0090t0001 a0001c0006t0001 a0007c0090t0001	a0001c0006t0001g0148 a0007c0090t0001g0134 a0001c0006t0001g0148 a0007c0090t0001g0134	2	158	0.0127	40	c.719 others(57): Show c.7191-400_7191-399insATATATATATATATATATATATATATGT GTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(33): Show CACACACACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19005.hp2 HG02257.hp1 NA19005.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0009 a0001c0006 a0003c0009	a0001c0006t0001 a0003c0009t0001 a0001c0006t0001 a0003c0009t0001	a0001c0006t0001g0099 a0003c0009t0001g0083 a0001c0006t0001g0099 a0003c0009t0001g0083	2	158	0.0127	40	c.719 others(57): Show c.7191-400_7191-399insATATATATATATATATATATATATATAT GTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(33): Show CACACACACACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0158 a0002c0001t0001g0158	1	158	0.0063	40	c.719 others(57): Show c.7191-400_7191-399insATATATATATATATATATATATATATAT ATGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720234	G G	GTGTGTGT others(33): Show GTGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0002 a0013c0027t0002	a0013c0027t0002g0017 a0013c0027t0002g0017	1	158	0.0063	40	c.503 others(59): Show c.5030-1976_5030-1975insTATATATATATATATATATATATATA TATATACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886323	C C	CATACATA others(33): Show CATACATATATATATATATATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0049 a0005c0013t0001g0049	1	158	0.0063	40	c.330 others(59): Show c.330-14909_330-14908insATGTATATATATATATATATATATAT ATATATATATGTAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886353	C C	CACACACA others(33): Show CACACACACACACATATATATGTGTGTGTGTATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0002 a0002c0055t0002	a0002c0055t0002g0140 a0002c0055t0002g0140	1	158	0.0063	40	c.330 others(59): Show c.330-14939_330-14938insATATATATATACACACACACATATAT ATGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(33): Show ATGTGTGTATATATATATATACACACACACATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01943.hp1 others(12): Show HG00609.hp1 HG00609.hp2 HG01943.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02486.hp2 HG02818.hp2 HG03139.hp2 HG03710.hp1 HG03710.hp2 NA18945.hp1 NA18970.hp1 NA18994.hp1 NA19063.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0008 a0012 a0028 a0029	a0001c0002 a0001c0006 a0001c0028 others(11): Show a0001c0002 a0001c0006 a0001c0028 a0002c0001 a0002c0023 a0002c0038 a0003c0050 a0004c0005 a0004c0049 a0007c0026 a0008c0034 a0012c0064 a0028c0037 a0029c0043	a0001c0002t0001 a0001c0006t0001 a0001c0028t0001 others(11): Show a0001c0002t0001 a0001c0006t0001 a0001c0028t0001 a0002c0001t0001 a0002c0023t0001 a0002c0038t0001 a0003c0050t0001 a0004c0005t0002 a0004c0049t0002 a0007c0026t0001 a0008c0034t0002 a0012c0064t0002 a0028c0037t0002 a0029c0043t0002	a0001c0002t0001g0155 a0001c0006t0001g0099 a0001c0006t0001g0138 others(12): Show a0001c0002t0001g0155 a0001c0006t0001g0099 a0001c0006t0001g0138 a0001c0028t0001g0031 a0002c0001t0001g0043 a0002c0023t0001g0021 a0002c0038t0001g0024 a0003c0050t0001g0056 a0004c0005t0002g0080 a0004c0049t0002g0101 a0007c0026t0001g0007 a0008c0034t0002g0069 a0012c0064t0002g0059 a0028c0037t0002g0133 a0029c0043t0002g0036	15	158	0.0949	40	c.330 others(59): Show c.330-14954_330-14953insCACACATATATGTGTGTGTGTATATA TATATATACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(33): Show ATGTGTGTGTGTATATACATATACACACACATATATATGTG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0012 a0012	a0012c0079 a0012c0079	a0012c0079t0002 a0012c0079t0002	a0012c0079t0002g0122 a0012c0079t0002g0122	1	158	0.0063	40	c.330 others(59): Show c.330-14954_330-14953insCACATATATATGTGTGTGTATATGTA TATACACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(33): Show ATGTGTGTGTGTATATATATATACACACACATATATATGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02572.hp2 HG02622.hp2 others(1): Show HG00639.hp1 HG02572.hp2 HG02622.hp2 HG02976.hp2	a0002 a0011 a0017 a0002 a0011 a0017	a0002c0018 a0011c0060 a0017c0016 a0002c0018 a0011c0060 a0017c0016	a0002c0018t0001 a0002c0018t0002 a0011c0060t0003 others(1): Show a0002c0018t0001 a0002c0018t0002 a0011c0060t0003 a0017c0016t0003	a0002c0018t0001g0026 a0002c0018t0002g0068 a0011c0060t0003g0078 others(1): Show a0002c0018t0001g0026 a0002c0018t0002g0068 a0011c0060t0003g0078 a0017c0016t0003g0090	4	158	0.0253	40	c.330 others(59): Show c.330-14954_330-14953insCACATATATATGTGTGTGTATATATA TATACACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886384	A A	ATATATAC others(33): Show ATATATACACACACATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0002 a0002c0023t0002	a0002c0023t0002g0103 a0002c0023t0002g0103	1	158	0.0063	40	c.330 others(59): Show c.330-14970_330-14969insCACACACACACACACACACATATATA TGTGTGTGTATATA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGL_chr17_16212210_16331411	16258077	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	246	0.0041	40	c.335 others(59): Show c.335+24024_335+24025insAAGAGAGAGAGAGAGAGAGAGAAAGA GAGAGAGAGAGAGA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGZ_chr3_196941356_196973833	196973703	G G	GGGAAGTG others(33): Show GGGAAGTGAGGAGCGTCTCTTCCCGGCCGCCATCCCATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	424	0.0024	40	c.-50 others(51): Show c.-5018_-5017insTAGATGGGATGGCGGCCGGGAAGAGACGCTCCTC ACTTCC	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4871		chr3	TogoVar
PIGZ_chr3_196941356_196973833	196973705	A A	AAAGTGAG others(33): Show AAAGTGAGGAGCGCCTCTTCCCGGCCGCCATCCCACCTAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02486.hp2 others(5): Show HG02055.hp1 HG02055.hp2 HG02486.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03516.hp1 NA18906.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0009 a0004c0017 others(1): Show a0001c0001 a0004c0009 a0004c0017 a0006c0032	a0001c0001t0002 a0004c0009t0001 a0004c0017t0002 others(1): Show a0001c0001t0002 a0004c0009t0001 a0004c0017t0002 a0006c0032t0001	a0001c0001t0002g0287 a0004c0009t0001g0046 a0004c0009t0001g0311 others(3): Show a0001c0001t0002g0287 a0004c0009t0001g0046 a0004c0009t0001g0311 a0004c0017t0002g0040 a0006c0032t0001g0281 a0006c0032t0001g0309	8	424	0.0189	40	c.-50 others(51): Show c.-5020_-5019insCCTAGGTGGGATGGCGGCCGGGAAGAGGCGCTCC TCACTT	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4873		chr3	TogoVar
PIGZ_chr3_196941356_196973833	196973737	C C	CCGTCTAG others(33): Show CCGTCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0323 a0001c0004t0001g0323	1	424	0.0024	40	c.-50 others(51): Show c.-5052_-5051insTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCC TAGACG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4905		chr3	TogoVar
PIGZ_chr3_196941356_196973833	196973804	C C	CCGGCCGC others(33): Show CCGGCCGCCCCGTCTGGGAGGTGAGGAGCGTCTCCGCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0146 a0002c0005t0003g0146	1	424	0.0024	40	c.-51 others(51): Show c.-5119_-5118insCCGGGCGGAGACGCTCCTCACCTCCCAGACGGGG CGGCCG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4972		chr3	TogoVar
PIK3C3_chr18_41950234_42092830	42076103	T T	TATATATA others(33): Show TATATATATATATGCACATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0127 a0001c0001t0047g0127	1	340	0.0029	40	c.265 others(59): Show c.2650-5008_2650-5007insGCACATATATATATATATATATATGC GCATATATATATAT	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIK3CB_chr3_138647698_138839928	138693971	T T	TATATATA others(33): Show TATATATATATATATATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	206	0.0049	40	c.189 others(57): Show c.1892+814_1892+815insTATATATATATATATATATATATAATAT ATATATATATAT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	14/23			chr3	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(33): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0006 a0001c0003t0006g0006	1	318	0.0031	40	c.315 others(57): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(33): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0007 a0001c0003t0006g0007	1	318	0.0031	40	c.315 others(57): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(33): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	318	0.0031	40	c.315 others(57): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R6_chr17_8797722_8872674	8829299	C C	CACAGACA others(33): Show CACAGACACACTGACACACACGCATGCATGCATACACACAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03130.hp1 NA18906.hp1 HG01243.hp2 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0076 a0001c0001t0001g0132 a0001c0001t0001g0133	3	354	0.0085	40	c.890 others(55): Show c.890-310_890-309insCTGTGTGTATGCATGCATGCGTGTGTGTCA GTGTGTCTGT	PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	10/19			chr17	TogoVar
PINX1_chr8_10759961_10844875	10805443	T T	TACTAGTG others(33): Show TACTAGTGCTGAGTGGGTGGCAGAGCACAGGAAGAAGCCAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	352	0.0028	40	c.471 others(59): Show c.471+14710_471+14749dupGTGGCTTCTTCCTGTGCTCTGCCACC CACTCAGCACTAGT	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PINX1_chr8_10759961_10844875	10806097	G G	GGGGTGAC others(33): Show GGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTGAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01081.hp1 others(27): Show HG00099.hp2 HG00280.hp1 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG03490.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0006t0001	a0001c0003t0001g0122 a0001c0003t0003g0003 a0001c0003t0003g0007 others(23): Show a0001c0003t0001g0122 a0001c0003t0003g0003 a0001c0003t0003g0007 a0001c0003t0003g0008 a0001c0003t0003g0107 a0001c0003t0003g0108 a0001c0003t0003g0110 a0001c0003t0003g0111 a0001c0003t0003g0112 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0117 a0001c0003t0003g0118 a0001c0003t0003g0121 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0006g0116 a0001c0003t0006g0119 a0001c0003t0006g0120 a0001c0006t0001g0088	30	352	0.0852	40	c.471 others(59): Show c.471+14095_471+14096insACTCAGCACTAGTGTGGCCCCTTCCT GTGCTCCGTCACCC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PIP5K1C_chr19_3625183_3705468	3666717	A A	ATGCACAC others(33): Show ATGCACACACGCACGCAGGCAAACATGCACACACACAAACG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03579.hp2 HG02647.hp2 HG03579.hp2	a0001 a0001	a0001c0026 a0001c0027 a0001c0026 a0001c0027	a0001c0026t0005 a0001c0027t0026 a0001c0026t0005 a0001c0027t0026	a0001c0026t0005g0324 a0001c0027t0026g0323 a0001c0026t0005g0324 a0001c0027t0026g0323	2	332	0.0060	40	c.126 others(55): Show c.126+565_126+604dupCGTTTGTGTGTGTGCATGTTTGCCTGCGTG CGTGTGTGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	2/17			chr19	TogoVar
PITHD1_chr1_23773418_23793232	23783318	T T	TATATATA others(33): Show TATATATATACACATATATGTGTATATCTACATATATACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	372	0.0027	40	c.321 others(57): Show c.321-2331_321-2330insCTACATATATACACATATATATACACAT ATATGTGTATAT	PITHD1	ENSG00000057757.10	transcript	ENST00000246151.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PITPNC1_chr17_67372281_67702256	67413401	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0068 a0001c0001t0028g0068	1	218	0.0046	40	c.48+ others(57): Show c.48+35230_48+35231insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425193	G G	GCGCGCGC others(33): Show GCGCGCGCGCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0093 a0001c0001t0010g0093	1	218	0.0046	40	c.48+ others(57): Show c.48+46992_48+46993insGCGCGCGCGCACACACACACACACACAC ACACACACACAC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTCT others(33): Show TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	218	0.0046	40	c.49- others(57): Show c.49-38616_49-38615insCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTTT others(33): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01074.hp2 others(6): Show HG00323.hp1 HG00639.hp1 HG01074.hp2 HG01169.hp1 HG01358.hp1 HG01928.hp1 HG02148.hp1 HG06807.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0025 a0001c0001t0065	a0001c0001t0001g0132 a0001c0001t0003g0014 a0001c0001t0004g0186 others(6): Show a0001c0001t0001g0132 a0001c0001t0003g0014 a0001c0001t0004g0186 a0001c0001t0011g0208 a0001c0001t0012g0193 a0001c0001t0016g0040 a0001c0001t0016g0041 a0001c0001t0025g0196 a0001c0001t0065g0035	9	218	0.0413	40	c.49- others(57): Show c.49-38616_49-38615insCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar

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