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
PCLO_chr7_82749012_83167884	83096963	T T	TATATTAT others(34): Show TATATTATATATTATATAAATAATATATTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0019 a0019	a0019c0098 a0019c0098	a0019c0098t0002 a0019c0098t0002	a0019c0098t0002g0082 a0019c0098t0002g0082	1	188	0.0053	41	c.330 others(62): Show c.3300+37286_3300+37287insTTATATAATATATAATATATTATT TATATAATATATAATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCNP_chr3_101569180_101599465	101586571	T T	TGTGTGTG others(34): Show TGTGTGTGTGTGAGAGAGAGAGAGAGAGAGTTTCTTGTTTCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	424	0.0024	41	c.354 others(58): Show c.354+1061_354+1062insTGTGTGTGTGAGAGAGAGAGAGAGAGAG TTTCTTGTTTCAG	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNP_chr3_101569180_101599465	101586572	G G	GTGTGTGT others(34): Show GTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGTTTCTTGTTTC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	424	0.0024	41	c.354 others(58): Show c.354+1061_354+1062insTGTGTGTGTGAGAGAGAGAGAGAGAGAG AGTTTCTTGTTTC	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4			chr3	TogoVar
PCNP_chr3_101569180_101599465	101586572	G G	GTGTGTGT others(34): Show GTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGTTTCTTGTTTC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	424	0.0024	41	c.354 others(58): Show c.354+1061_354+1062insTGTGTGTGTGTGAGAGAGAGAGAGAGAG AGTTTCTTGTTTC	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4			chr3	TogoVar
PCNP_chr3_101569180_101599465	101586572	G G	GTGTGTGT others(34): Show GTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGTTTCTTGTTTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	424	0.0024	41	c.354 others(58): Show c.354+1061_354+1062insTGTGTGTGTGTGTGTGAGAGAGAGAGAG AGTTTCTTGTTTC	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	3/4			chr3	TogoVar
PCNX1_chr14_70902459_71120382	70910055	T T	TCCTCCCC others(34): Show TCCTCCCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA18981.hp2 HG01071.hp1 NA18981.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0052 a0003c0007t0015 a0001c0001t0052 a0003c0007t0015	a0001c0001t0052g0211 a0003c0007t0015g0212 a0001c0001t0052g0211 a0003c0007t0015g0212	2	352	0.0057	41	c.153 others(58): Show c.153+2057_153+2058insCCCCCTCCTCCCCCTCCTCCCCCTCCTC CTCCTCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(34): Show TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18961.hp1 NA18982.hp1 others(5): Show HG02083.hp1 NA18961.hp1 NA18982.hp1 NA18993.hp1 NA18999.hp1 NA19009.hp1 NA19063.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0001g0046 a0001c0001t0002g0001 a0001c0001t0002g0009	8	372	0.0215	41	c.13 others(52): Show c.1379_*1380insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTC	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding		381		chr5	TogoVar
PCYOX1L_chr5_149353046_149374653	149370037	T T	TTTTTTTT others(34): Show TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	372	0.0027	41	c.13 others(52): Show c.1383_*1384insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGACA	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding		385		chr5	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18959.hp1 HG00609.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0107 a0001c0001t0027g0097 a0001c0001t0002g0107 a0001c0001t0027g0097	2	260	0.0077	41	c.117 others(58): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAATATAT others(34): Show AAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19088.hp1 NA20300.hp1 HG00673.hp1 NA19088.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0042 a0001c0001t0008g0040 a0001c0001t0009g0041 a0001c0001t0002g0042 a0001c0001t0008g0040 a0001c0001t0009g0041	3	260	0.0115	41	c.117 others(58): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATATT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0112 a0001c0005t0001g0112	1	260	0.0039	41	c.117 others(58): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATATATA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PC_chr11_66843420_66963383	66959935	A A	ATATATAT others(34): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0251 a0005c0012t0001g0251	1	274	0.0037	41	c.-18 others(52): Show c.-1842_-1841insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATA	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding		1553		chr11	TogoVar
PDCD6_chr5_266646_319974	298726	A A	ACCCAGCT others(34): Show ACCCAGCTGCTCCCACCCAGCTGCTCCCACCCAGCTGCTCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG03195.hp1 HG02886.hp1 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171	3	360	0.0083	41	c.164 others(58): Show c.164-5438_164-5437insACCCAGCTGCTCCCACCCAGCTGCTCCC CCCAGCTGCTCCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	298822	C C	CCAGCTGC others(34): Show CCAGCTGCTCCCCCCCAGCTGCTCCCCCCCAGCTGCTCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00733.hp2 others(27): Show HG00140.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01169.hp1 HG01255.hp2 HG01346.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02132.hp2 HG02300.hp2 HG02572.hp2 HG02735.hp2 HG03669.hp2 HG06807.hp2 NA18965.hp2 NA18970.hp2 NA18983.hp2 NA19012.hp2 NA19030.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0007 a0002c0004t0003 a0002c0003t0001 a0002c0003t0007 a0002c0004t0003	a0002c0003t0001g0274 a0002c0003t0001g0277 a0002c0003t0001g0278 others(27): Show a0002c0003t0001g0274 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0297 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0007g0287 a0002c0004t0003g0275 a0002c0004t0003g0276 a0002c0004t0003g0279 a0002c0004t0003g0280 a0002c0004t0003g0281 a0002c0004t0003g0282 a0002c0004t0003g0290 a0002c0004t0003g0298	30	360	0.0833	41	c.164 others(58): Show c.164-5354_164-5353insAGCTGCTCCCCCCCAGCTGCTCCCCCCC AGCTGCTCCCCGC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	298822	C C	CCAGCTGC others(34): Show CCAGCTGCTCCCCCCCAGCTGCTCCCCCCCAGCTGCTCCCTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp2 HG02886.hp2 others(4): Show HG01099.hp2 HG01891.hp2 HG02886.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0020 a0003c0005t0004g0305 a0003c0005t0004g0306 others(3): Show a0003c0005t0004g0020 a0003c0005t0004g0305 a0003c0005t0004g0306 a0003c0005t0004g0307 a0003c0005t0004g0308 a0003c0005t0004g0309	7	360	0.0194	41	c.164 others(58): Show c.164-5354_164-5353insAGCTGCTCCCCCCCAGCTGCTCCCCCCC AGCTGCTCCCTGC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	318238	C C	CTCACCCT others(34): Show CTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01099.hp2 HG01891.hp2 others(5): Show HG00408.hp2 HG01099.hp2 HG01891.hp2 HG02886.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0004 a0001c0002t0001 a0003c0005t0004	a0001c0002t0001g0109 a0003c0005t0004g0020 a0003c0005t0004g0305 others(4): Show a0001c0002t0001g0109 a0003c0005t0004g0020 a0003c0005t0004g0305 a0003c0005t0004g0306 a0003c0005t0004g0307 a0003c0005t0004g0308 a0003c0005t0004g0309	8	360	0.0222	41	c.37 others(52): Show c.3723_*3724insTCACCCTCCACCTCCCCCCCGCACCCTGCACCTC CCACCCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3265		chr5	TogoVar
PDCD6_chr5_266646_319974	318238	C C	CTCACCCT others(34): Show CTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 NA21309.hp2 HG01257.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0061 a0002c0003t0001g0292 a0001c0002t0001g0061 a0002c0003t0001g0292	2	360	0.0056	41	c.37 others(52): Show c.3723_*3724insTCACCCTCCACCTCCCCCCCGCACCCTGCACCTC CCGCCCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3265		chr5	TogoVar
PDGFD_chr11_103902189_104169147	103984997	T T	TTAATATA others(34): Show TTAATATAGTTATATTTATTTAATATATAACATATTAATTTA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	200	0.0050	41	c.510 others(60): Show c.510+11067_510+11068insTAAATTAATATGTTATATATTAAATA AATATAACTATATTA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDIA2_chr16_278164_292215	285925	T T	TCCCAACC others(34): Show TCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA19054.hp2 HG03239.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0001 a0002c0002t0001 a0002c0011t0001	a0002c0002t0001g0041 a0002c0011t0001g0041 a0002c0002t0001g0041 a0002c0011t0001g0041	2	436	0.0046	41	c.111 others(58): Show c.1119+240_1119+241insACCAACCCCGCGGTTCTCCCAACCCCAA CCCCAACCCCAAC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDLIM2_chr8_22575475_22599298	22599271	T T	TTCCTCGC others(34): Show TTCCTCGCCCCTCCCCTCCCTCTCCTCGCCCTCCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0260 a0003c0007t0002g0260	1	380	0.0026	41	c.53 others(52): Show c.5361_*5362insTCCTCGCCCCTCCCCTCCCTCTCCTCGCCCTCCC CTCCCTC	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding		4974		chr8	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0070 a0001c0001t0049g0070	1	334	0.0030	41	c.313 others(58): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(34): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0089 a0001c0001t0044g0089	1	334	0.0030	41	c.313 others(58): Show c.313-2864_313-2863insATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(34): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	334	0.0030	41	c.313 others(58): Show c.313-2864_313-2863insATATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0124 a0001c0001t0006g0124	1	334	0.0030	41	c.313 others(58): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATATATATATA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDSS2_chr6_107147562_107464564	107458412	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	260	0.0039	41	c.296 others(56): Show c.296+577_296+578insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107464061	T T	TATATATA others(34): Show TATATATATATATTTTACATATATATATATAAAATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	260	0.0039	41	c.-47 others(52): Show c.-4777_-4776insTATATATATTTTATATATATATATGTAAAATATA TATATAT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding		4498		chr6	TogoVar
PDSS2_chr6_107147562_107464564	107464061	T T	TATATATA others(34): Show TATATATATATATTTTATATATATATATATAAAATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG00741.hp2 others(26): Show HG00140.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01361.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02895.hp1 HG03195.hp1 HG03540.hp1 NA18522.hp1 NA18906.hp1 NA18962.hp1 NA18975.hp1 NA18977.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19060.hp1 NA19084.hp2 NA19090.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018	a0001c0001t0001g0014 a0001c0001t0001g0141 a0001c0001t0001g0142 others(26): Show a0001c0001t0001g0014 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0006g0173 a0001c0001t0007g0146 a0001c0001t0007g0156 a0001c0001t0007g0157 a0001c0001t0010g0154 a0001c0001t0018g0260	29	260	0.1115	41	c.-47 others(52): Show c.-4777_-4776insTATATATATTTTATATATATATATATAAAATATA TATATAT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding		4498		chr6	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0142 a0001c0007t0009g0142	1	216	0.0046	41	c.-36 others(62): Show c.-361+49917_-361+49918insATATATATATATATATATATATAT ATTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31777632	T T	TATGCACC others(34): Show TATGCACCAATCAGCACCCTGTGTCTAGCTCAGGGTTTGTGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02723.hp1 others(3): Show HG01884.hp2 HG01891.hp1 HG02723.hp1 HG03471.hp2 HG03486.hp1 NA18906.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0036	a0001c0007 a0002c0002 a0005c0045 others(2): Show a0001c0007 a0002c0002 a0005c0045 a0008c0014 a0036c0060	a0001c0007t0009 a0002c0002t0002 a0002c0002t0008 others(3): Show a0001c0007t0009 a0002c0002t0002 a0002c0002t0008 a0005c0045t0038 a0008c0014t0004 a0036c0060t0014	a0001c0007t0009g0058 a0002c0002t0002g0144 a0002c0002t0008g0175 others(3): Show a0001c0007t0009g0058 a0002c0002t0002g0144 a0002c0002t0008g0175 a0005c0045t0038g0176 a0008c0014t0004g0178 a0036c0060t0014g0204	6	216	0.0278	41	c.-36 others(62): Show c.-360-21241_-360-21240insCCTGTGTCTAGCTCAGGGTTTGTG GATGCACCAATCAGCAC	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31777884	C C	CACTCTGT others(34): Show CACTCTGTGTCTAGCTAAAGGTTTATAAACACACCAATCAGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(39): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01361.hp1 HG01975.hp2 HG02040.hp1 HG02080.hp1 HG02698.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03831.hp2 HG04184.hp1 HG04204.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18953.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18989.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19057.hp2 NA19088.hp2 NA19090.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0022 a0027	a0001c0001 a0001c0005 a0001c0026 others(8): Show a0001c0001 a0001c0005 a0001c0026 a0002c0002 a0002c0003 a0002c0012 a0002c0063 a0003c0004 a0003c0008 a0022c0057 a0027c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0037 a0001c0005t0001 a0001c0026t0002 a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0012t0002 a0002c0063t0002 a0003c0004t0001 a0003c0004t0003 a0003c0004t0004 a0003c0004t0026 a0003c0004t0045 a0003c0008t0012 a0022c0057t0001 a0027c0025t0001	a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0130 others(39): Show a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0117 a0001c0001t0003g0009 a0001c0001t0004g0208 a0001c0001t0021g0149 a0001c0001t0037g0154 a0001c0005t0001g0123 a0001c0026t0002g0077 a0002c0002t0001g0076 a0002c0002t0001g0104 a0002c0002t0001g0111 a0002c0002t0001g0120 a0002c0002t0003g0021 a0002c0002t0003g0026 a0002c0003t0001g0118 a0002c0003t0002g0092 a0002c0003t0002g0103 a0002c0003t0002g0133 a0002c0003t0002g0150 a0002c0003t0002g0197 a0002c0003t0005g0016 a0002c0003t0005g0017 a0002c0003t0005g0028 a0002c0012t0002g0078 a0002c0063t0002g0090 a0003c0004t0001g0129 a0003c0004t0001g0163 a0003c0004t0003g0022 a0003c0004t0004g0115 a0003c0004t0026g0065 a0003c0004t0045g0027 a0003c0008t0012g0030 a0022c0057t0001g0137 a0027c0025t0001g0125	42	216	0.1944	41	c.-36 others(62): Show c.-360-21004_-360-20964dupACTCTGTGTCTAGCTAAAGGTTTA TAAACACACCAATCAGT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PERM1_chr1_970198_987093	984610	T T	TTCTTTCT others(34): Show TTCTTTCTTTTTTCCTTCTTTATTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	408	0.0025	41	c.-26 others(52): Show c.-2691_-2690insGAAAGAAAGAAAGAAAGAAATAAAGAAGGAAAAA AGAAAGA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2518		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(34): Show CTTTATTTCTTTCTTTCTTTATTTATTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	408	0.0025	41	c.-26 others(52): Show c.-2692_-2691insATAAATAAATAAATAAATAAATAAAGAAAGAAAG AAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(34): Show CTTTATTTCTTTCTTTCTTTCTTTATTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA19083.hp2 NA18940.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0138 a0001c0001t0001g0002 a0001c0001t0001g0138	2	408	0.0049	41	c.-26 others(52): Show c.-2692_-2691insATAAATAAATAAATAAATAAAGAAAGAAAGAAAG AAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(34): Show CTTTATTTCTTTCTTTCTTTCTTTCTTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG00738.hp1 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0177 a0001c0001t0001g0037 a0001c0001t0001g0177	2	408	0.0049	41	c.-26 others(52): Show c.-2692_-2691insATAAATAAATAAATAAAGAAAGAAAGAAAGAAAG AAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERM1_chr1_970198_987093	984611	C C	CTTTATTT others(34): Show CTTTATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	408	0.0025	41	c.-26 others(52): Show c.-2692_-2691insATAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAATAAA	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding		2519		chr1	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0006 a0002c0002t0005g0006	1	430	0.0023	41	c.57 others(52): Show c.5727_*5728insATATATATATATATATATATATATATATATATAT ATATATA	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PEX2_chr8_76975258_77005078	76997685	T T	TATTGACA others(34): Show TATTGACAGGCAGTAATAAGGGAGATGTCTGATAAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	412	0.0024	41	c.-16 others(60): Show c.-160+2264_-160+2304dupTTTCTTTTTATCAGACATCTCCCTTA TTACTGCCTGTCAAT	PEX2	ENSG00000164751.15	transcript	ENST00000357039.9	protein_coding	1/3			chr8	TogoVar
PEX5_chr12_7184686_7216459	7196742	T T	TGTCATAT others(34): Show TGTCATATATAATGTAATAATTATATATGTCATATGTAATAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0212 a0001c0001t0004g0212	1	428	0.0023	41	c.449 others(58): Show c.449-2269_449-2268insGTCATATATAATGTAATAATTATATATG TCATATGTAATAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15			chr12	TogoVar
PEX5_chr12_7184686_7216459	7196952	T T	TGTCATAT others(34): Show TGTCATATATAATGTAATAATTATATATGTCATATGTAATAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0293 a0003c0003t0004g0293	1	428	0.0023	41	c.449 others(58): Show c.449-2059_449-2058insGTCATATATAATGTAATAATTATATATG TCATATGTAATAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15			chr12	TogoVar
PFKP_chr10_3062548_3141802	3106629	A A	ACCCCTGC others(34): Show ACCCCTGCCACTGCCCCTTCACCCCTGCCACTGCCCCTTCAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0051 a0001c0003t0012g0051	1	402	0.0025	41	c.775 others(56): Show c.775-577_775-576insACTGCCCCTTCACCCCTGCCACTGCCCCTT CACCCCCTGCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGA4_chr11_61217347_61236694	61220796	C C	CTGGTGCA others(34): Show CTGGTGCATTTACAAGCCTTTAGCTAGACACACAATGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02886.hp2 others(4): Show HG02257.hp1 HG02451.hp1 HG02886.hp2 HG03139.hp1 HG03209.hp2 HG03516.hp2 HG03579.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0020 a0009c0015 a0001c0001 a0001c0020 a0009c0015	a0001c0001t0001 a0001c0020t0009 a0009c0015t0001 a0001c0001t0001 a0001c0020t0009 a0009c0015t0001	a0001c0001t0001g0015 a0001c0001t0001g0083 a0001c0020t0009g0082 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0083 a0001c0020t0009g0082 a0009c0015t0001g0084	7	304	0.0230	41	c.-16 others(52): Show c.-1605_-1604insTGGTGCATTTACAAGCCTTTAGCTAGACACACAA TGTTGAT	PGA4	ENSG00000229183.10	transcript	ENST00000378149.9	protein_coding		1550		chr11	TogoVar
PGA5_chr11_61236175_61256444	61239622	C C	CTGGTGCA others(34): Show CTGGTGCATTTACAAGCCTTTAGCTAGACACACAATGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0003 a0003c0011t0003	a0003c0011t0003g0152 a0003c0011t0003g0152	1	406	0.0025	41	c.-16 others(52): Show c.-1605_-1604insTGGTGCATTTACAAGCCTTTAGCTAGACACACAA TGTTGAT	PGA5	ENSG00000256713.8	transcript	ENST00000312403.10	protein_coding		1552		chr11	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	376	0.0027	41	c.-35 others(52): Show c.-3543_-3542insATATATATATATATATATATATATTTTTTTTTTT TTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PHACTR1_chr6_12711767_13292837	13195757	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	108	0.0093	41	c.665 others(60): Show c.665-10035_665-10034insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(34): Show TTCTTTCTTTCTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	250	0.0040	41	c.118 others(60): Show c.118+30018_118+30019insCTTTCTTTCTCTTTCTTTCTTTCTTT CCTTTCTTTCTTTCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(34): Show TTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	250	0.0040	41	c.118 others(60): Show c.118+30018_118+30019insCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCCTTTCTTTCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(34): Show TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA18962.hp1 HG01257.hp2 HG01258.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0001g0195	3	250	0.0120	41	c.118 others(60): Show c.118+30018_118+30019insCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCCTTTCTTTCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(34): Show TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	250	0.0040	41	c.118 others(60): Show c.118+30018_118+30019insCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTTCCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTCTTTCT others(34): Show TTCTTTCTTTCTTTTTCTTTCTTTCTTTCCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19030.hp2 HG01261.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0003 a0001c0001t0003 a0001c0005t0003	a0001c0001t0003g0038 a0001c0005t0003g0035 a0001c0001t0003g0038 a0001c0005t0003g0035	2	250	0.0080	41	c.118 others(60): Show c.118+30018_118+30019insCTTTCTTTCTTTTTCTTTCTTTCTTT CCTTTCTTTCTTTCT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF12_chr17_28900250_28956518	28923653	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	232	0.0043	41	c.715 others(56): Show c.715+255_715+256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PHF12	ENSG00000109118.14	transcript	ENST00000332830.9	protein_coding	4/14			chr17	TogoVar

Search by Variant

Search

Search Results (Total: 2600 hits)