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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
OR1F1_chr16_3183204_3211556	3198019	A A	AGGAGAGG others(293): Show AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 NA18943.hp1 others(1): Show HG00140.hp2 HG01070.hp1 NA18943.hp1 NA20752.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0012 a0007c0008t0001 a0002c0002t0012 a0007c0008t0001	a0002c0002t0012g0095 a0007c0008t0001g0209 a0007c0008t0001g0210 others(1): Show a0002c0002t0012g0095 a0007c0008t0001g0209 a0007c0008t0001g0210 a0007c0008t0001g0263	4	328	0.0122	300	c.-12 others(317): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(293): Show TTATATTATATATATTATATATATTATATTTAATATATATTATATATATT ATATATAATATATATTATATATAATATATATAATATATATTATATATAAT ATATATTATATATAATATATATAATATATATTATATATATTATATATAAT ATATATTATATATAATATATATAATATATATTATATATAATATATATTAT ATATAATATATATAATATATATTATATATATTATATATTATATATAATAT ATATAATATATATTATATATATTATATATAATATATATAATATATATTAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	450	0.0022	300	c.-23 others(311): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATATTATATATAATATATAATATATATAATATA TATTATATATATTATATATAATATATATTATATATAATATATATTATATA TATTATATATAATATATATTATATATAATATATATAATATATATTATATA TATTATATATAATATATATTATATATAATATATATTATATATATTATATA TAATATATATTATATATAATATATATAATATATATTAAATATAATATATA TAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(293): Show CTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCT TTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTT CTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTG CTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCT TTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTG T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03654.hp1 NA18961.hp1 others(2): Show HG00408.hp2 HG03654.hp1 NA18961.hp1 NA18984.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0003t0011 a0001c0001t0004 a0001c0003t0003 a0001c0003t0011	a0001c0001t0004g0038 a0001c0003t0003g0042 a0001c0003t0003g0043 others(2): Show a0001c0001t0004g0038 a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0334 a0001c0003t0011g0356	5	366	0.0137	300	c.487 others(317): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTGCTTTCTTG CTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCT TGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTG CTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCT TTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTTCTTGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(293): Show CTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTGCT TTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTT CTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTG CTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCT TTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTG T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0016 a0001c0003t0008g0016	1	366	0.0027	300	c.487 others(317): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTGCTTTCTTT CTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCT TGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTG CTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCT TTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTTCTTGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(293): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTTCT TGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTT CTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCT TGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTT CTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCT TTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTG T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0017 a0001c0003t0019g0017	1	366	0.0027	300	c.487 others(317): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTGCTTT CTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCT TTCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCT TTCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTTCTTGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(293): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCT TGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTT CTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCT TGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTT CTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCT TTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTG T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0034 a0001c0003t0003g0034	1	366	0.0027	300	c.487 others(317): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCT TTCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCT TTCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTTCTTGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(293): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGGAG GGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGG GGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAA G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	302	0.0033	300	c.155 others(317): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCTCCCCCTCCCCTCCCCCCTCCCTCCCCCCTCCCCTCCCCCCTCCCTCC CCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCC CCTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(293): Show AGGGAAGGGAAGGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGA GGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGAGGGGAGGGGGAG GGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAA G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	302	0.0033	300	c.155 others(317): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCTCCCCCTCCCCTCC CCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCC CTCCCCTCCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109863770	T T	TAGAAGTG others(293): Show TAGAAGTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	222	0.0045	300	c.46- others(315): Show c.46-3709_46-3708insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGAGAAGTGACTTT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCED1A_chr20_2830314_2845655	2842860	C C	CTATCGAT others(293): Show CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	300	c.-26 others(311): Show c.-2672_-2671insCATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2206		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(293): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	300	c.-26 others(311): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(293): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02886.hp2 others(1): Show HG02109.hp1 HG02630.hp2 HG02886.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	4	436	0.0092	300	c.-26 others(311): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCNT_chr21_46319156_46450769	46413142	A A	ACCCGGGA others(293): Show ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CACAAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGA GGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCC C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0042 a0042	a0042c0043 a0042c0043	a0042c0043t0001 a0042c0043t0001	a0042c0043t0001g0059 a0042c0043t0001g0059	1	332	0.0030	300	c.615 others(317): Show c.6150+202_6150+203insAAGGCCCACCCGGGAGAGGCTGGACACG CGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAG GCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCA CCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGC ACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAG CGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAG GTGTGGGGAGCGGGGAAGGCAC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413142	A A	ACCCGGGA others(293): Show ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGG CGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGA GGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCGCGAGGTCC C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0001 a0002c0047t0001	a0002c0047t0001g0140 a0002c0047t0001g0140	1	332	0.0030	300	c.615 others(317): Show c.6150+200_6150+201insGCGAGGTCCCCCCGGGAGAGGCTGGACA CGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCC CACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAG GCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGG AGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCA AGGTGTGGGGAGCGGGGAAGGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46413242	G G	GCGGGGAA others(293): Show GCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACAC GCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCCCCTGGGAGAG GCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCA CCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGC ACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAG C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	332	0.0030	300	c.615 others(317): Show c.6150+250_6150+251insCGGGGAAGGCGCGAGGTCCCCCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCC CACCCGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGG CGTGAGGCCCCCCTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46			chr21	TogoVar
PDCD1_chr2_241844884_241863894	241848416	C C	CGCACTGT others(293): Show CGCACTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGCGCGC TGCGCTGTCAATGGATGAATGAGAGCCTTGAGTTCTGGATGCTGGCGCGC TGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCGCGC TGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGCGCGC TGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGATGCTGGCGCGC TGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCGTGC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01261.hp2 HG01928.hp1 others(23): Show HG00673.hp2 HG01261.hp2 HG01928.hp1 HG01952.hp1 HG01981.hp1 HG02056.hp1 HG02056.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 NA18955.hp2 NA18965.hp2 NA18969.hp2 NA18977.hp2 NA18978.hp2 NA18990.hp1 NA18994.hp2 NA19063.hp1 NA19067.hp2 NA19080.hp1 NA19083.hp1 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004	a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0002g0015 others(5): Show a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0090 a0001c0002t0003g0010 a0001c0002t0003g0026 a0001c0002t0004g0019 a0001c0002t0004g0022	26	407	0.0639	300	c.26 others(311): Show c.2641_*2642insAGCACGCCAGCATCCAGAACTCAAGGCTCTCAAA CACCCATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTTTCATT CATCCATTGACAGCGCAGCGCGCCAGCGTCCAGAACTCACGTCTCTCATT CATCCACTGACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCAAA CACCCATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCATT CATCCATTGACAGCGCAGCGCGCCAGCGTCCAGAACTCACGTCTCTCATT CATCCACTGACAGTGC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1467		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848416	C C	CGCGCTGT others(293): Show CGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGCGCGC TGCGCTGTCAATGGATGAATGAGAGCCTTGAGTTCTGGATGCTGGCGCGC TGCGCTGTGAATGGGTTTTTGAGAGCCTTGAGTTCTGGATGCTGGCGCGC TGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGCGCGC TGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGATGCTGGCGCGC TGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCGTGC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	407	0.0025	300	c.26 others(311): Show c.2641_*2642insAGCACGCCAGCATCCAGAACTCAAGGCTCTCAAA CACCCATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTTTCATT CATCCATTGACAGCGCAGCGCGCCAGCGTCCAGAACTCACGTCTCTCATT CATCCACTGACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCAAA AACCCATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCATT CATCCATTGACAGCGCAGCGCGCCAGCGTCCAGAACTCACGTCTCTCATT CATCCACTGACAGCGC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1467		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848563	C C	CGCTGCGC others(293): Show CGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGCG CGCTGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGATGCTGGCG CGCTGCCGTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCG TGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGCG CGCTGCGCTGTCAATGGATGAATGAGAGCCTTGAGTTCTGGATGCTGGCG CGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	407	0.0025	300	c.24 others(311): Show c.2494_*2495insACGCCAGCATCCAGAACTCAAGGCTCTCAAACAC CCATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCATTCAT CCATTGACAGCGCAGCGCGCCAGCGTCCAGAACTCACGTCTCTCATTCAT CCACTGACAGCGCAGCACGCCAGCATCCAGAACTCAAGGCTCTCAAACAC CCATTCACACGGCAGCGCGCCAGCATCCAGAACTCAAGGCTTTCATTCAT CCATTGACAGCGCAGCGCGCCAGCGTCCAGAACTCACGTCTCTCATTCAT CCACTGACAGCGCAGC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1320		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848563	C C	CGCTGCGC others(293): Show CGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGCG CGCTGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGATGCTGGCG CGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCG TGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGCG CGCTGCGCTGTCAATGGATGAATGAGAGCCTTGAGTTCTGGATGCTGGCG CGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00642.hp1 others(88): Show HG00099.hp1 HG00423.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01952.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18949.hp1 NA18954.hp2 NA18961.hp1 NA18965.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 a0001c0002t0013 a0001c0002t0018 a0001c0012t0002	a0001c0002t0001g0007 a0001c0002t0001g0018 a0001c0002t0001g0020 others(25): Show a0001c0002t0001g0007 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0056 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0089 a0001c0002t0002g0003 a0001c0002t0002g0009 a0001c0002t0002g0034 a0001c0002t0002g0045 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0081 a0001c0002t0002g0103 a0001c0002t0005g0012 a0001c0002t0005g0030 a0001c0002t0011g0027 a0001c0002t0011g0043 a0001c0002t0013g0060 a0001c0002t0018g0055 a0001c0012t0002g0059	91	407	0.2236	300	c.24 others(311): Show c.2494_*2495insACGCCAGCATCCAGAACTCAAGGCTCTCAAACAC CCATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCATTCAT CCATTGACAGCGCAGCGCGCCAGCGTCCAGAACTCACGTCTCTCATTCAT CCACTGACAGCGCAGCACGCCAGCATCCAGAACTCAAGGCTCTCAAACAC CCATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTTTCATTCAT CCATTGACAGCGCAGCGCGCCAGCGTCCAGAACTCACGTCTCTCATTCAT CCACTGACAGCGCAGC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1320		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848563	C C	CGCTGCGC others(293): Show CGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGCG CGCTGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGATGCTGGCG CGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCG TGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGCG CGCTGCGCTGTCAATGGATGAATGAGAGCCTTGAGTTCTGGATGCTGGCG CGCTGCTCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGGCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	407	0.0025	300	c.24 others(311): Show c.2494_*2495insACGCCAGCATCCAGAACTCAAGGCTCTCAAACAC CCATTCACAGAGCAGCGCGCCAGCATCCAGAACTCAAGGCTCTCATTCAT CCATTGACAGCGCAGCGCGCCAGCGTCCAGAACTCACGTCTCTCATTCAT CCACTGACAGCGCAGCACGCCAGCATCCAGAACTCAAGGCTCTCAAACAC CCATTCACAGCGCAGCGCGCCAGCATCCAGAACTCAAGGCTTTCATTCAT CCATTGACAGCGCAGCGCGCCAGCGTCCAGAACTCACGTCTCTCATTCAT CCACTGACAGCGCAGC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1320		chr2	TogoVar
PDXK_chr21_43714129_43767299	43741280	G G	GGGGGGCT others(293): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGGTTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCAGGGGGCTCGCGGGGGGCTGGCGGGCTCGCGGGGGGCTCGCG GGGGGGTTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCG C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0177 a0001c0001t0080g0177	1	358	0.0028	300	c.143 others(315): Show c.143-382_143-381insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCAGGGGGCTCGCGGGGGGCTGGCGGGCTC GCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TGGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEX10_chr1_2398974_2417564	2401346	C C	CTCCTCCC others(293): Show CTCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCC CTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCC TCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTC CTCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTC CCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTC CTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01243.hp1 HG01243.hp2 others(19): Show HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA19240.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0015 a0001c0001 a0001c0002 a0008c0015	a0001c0001t0001 a0001c0002t0004 a0001c0002t0017 others(2): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0017 a0001c0002t0032 a0008c0015t0004	a0001c0001t0001g0094 a0001c0002t0004g0010 a0001c0002t0004g0011 others(7): Show a0001c0001t0001g0094 a0001c0002t0004g0010 a0001c0002t0004g0011 a0001c0002t0004g0060 a0001c0002t0004g0106 a0001c0002t0004g0110 a0001c0002t0017g0111 a0001c0002t0017g0113 a0001c0002t0032g0112 a0008c0015t0004g0116	22	358	0.0615	300	c.44 others(311): Show c.4419_*4420insAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAAG GAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGGAGGAAGGAGGGAGG AGGGGGGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGAGGAGGGAG GAGGAGGAAGCAGGGAGGAGGAGGGAGGAAGAAGGGAGGAGGGAGGAGGA GGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAAGGAGGGAG GAAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGAAG GGAGGAGGAGGGAGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2627		chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	T T	TGTGTTTT others(293): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	432	0.0023	300	c.77- others(315): Show c.77-3000_77-2999insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIAS4_chr19_4002736_4044386	4011718	G G	GGTGTGTG others(293): Show GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGG AGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA GCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGG AGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA A	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18612.hp2 NA18747.hp1 HG00609.hp1 NA18612.hp2 NA18747.hp1	a0001 a0001	a0001c0005 a0001c0012 a0001c0005 a0001c0012	a0001c0005t0005 a0001c0012t0005 a0001c0005t0005 a0001c0012t0005	a0001c0005t0005g0232 a0001c0005t0005g0234 a0001c0012t0005g0233 a0001c0005t0005g0232 a0001c0005t0005g0234 a0001c0012t0005g0233	3	334	0.0090	300	c.28- others(315): Show c.28-1165_28-1164insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PICALM_chr11_85952175_86074084	86033415	T T	TGCCAAGC others(293): Show TGCCAAGCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGC AATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	358	0.0028	300	c.131 others(317): Show c.131-1805_131-1804insCTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGC GGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAGTGCTTGGC	PICALM	ENSG00000073921.18	transcript	ENST00000393346.8	protein_coding	1/19			chr11	TogoVar
PIH1D1_chr19_49441298_49456814	49445397	G G	GAAGAGCT others(293): Show GAAGAGCTGCACCTGTAGTCGCAGCTACTTGGGAGGCTGAGGTGCAACCA TCACTTGAACTCGGGAGGTTGCAGAGTGAGTCAGGATTGCACCACTGCAC TCCAGCGTGGGCCTAAGAGCCAGACTCTGTCAAAAAAAAAAAAAGAAAGA AAGAAAGAGAGAGAGAAAGGAAGGAAGGAAGGAAAGAAAAGAAAGAAAGA ATAAAGAAAGAAACTTCTGCAGATGTACTGGGAAGAGGATACAAAGTAGC AGGAACAGCAGAAACTAAGAGATGGGGGAAAATGGGTGTGGTCAGGACAC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01255.hp1 HG01433.hp1 others(4): Show HG01070.hp2 HG01255.hp1 HG01433.hp1 HG02055.hp1 HG02559.hp2 HG02717.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0011 a0001c0001t0002g0021	7	366	0.0191	300	c.98 others(309): Show c.984_*985insAGTGTCCTGACCACACCCATTTTCCCCCATCTCTTA GTTTCTGCTGTTCCTGCTACTTTGTATCCTCTTCCCAGTACATCTGCAGA AGTTTCTTTCTTTATTCTTTCTTTCTTTTCTTTCCTTCCTTCCTTCCTTT CTCTCTCTCTTTCTTTCTTTCTTTTTTTTTTTTTGACAGAGTCTGGCTCT TAGGCCCACGCTGGAGTGCAGTGGTGCAATCCTGACTCACTCTGCAACCT CCCGAGTTCAAGTGATGGTTGCACCTCAGCCTCCCAAGTAGCTGCGACTA CAGGTGCAGCTCTT	PIH1D1	ENSG00000104872.11	transcript	ENST00000262265.10	protein_coding		900		chr19	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	C C	CATGGCTT others(293): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0246 a0001c0008t0003g0246	1	302	0.0033	300	c.-84 others(317): Show c.-84-1173_-84-1172insCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCATCATGTGAGAATACCAGTGAAGCCATCAT GTGAGAATACCAGTGAAGCCAT	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(293): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGAGGAGATGGGA GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAA GAGGGGAAGGGAGGGGAGGGGAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	312	0.0032	300	c.53 others(311): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGAGGAGATGGGAGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGA GGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(293): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01361.hp1 HG01496.hp1 others(11): Show HG01074.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG02572.hp1 HG02970.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03710.hp2 NA18522.hp1 NA18952.hp1 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0002t0047 a0001c0001t0010 a0001c0002t0001 a0001c0002t0047	a0001c0001t0010g0060 a0001c0002t0001g0020 a0001c0002t0001g0043 others(11): Show a0001c0001t0010g0060 a0001c0002t0001g0020 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0114 a0001c0002t0001g0140 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0183 a0001c0002t0001g0273 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0308 a0001c0002t0047g0042	14	332	0.0422	300	c.112 others(317): Show c.1128-556_1128-555insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(293): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01261.hp2 HG02056.hp1 others(12): Show HG00642.hp2 HG01261.hp2 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG03704.hp2 HG04228.hp2 NA18612.hp1 NA19087.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0001t0024 a0007c0011t0024	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0065 others(12): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0195 a0001c0001t0001g0263 a0001c0001t0003g0022 a0001c0001t0003g0194 a0001c0001t0023g0011 a0001c0001t0023g0080 a0001c0001t0024g0166 a0007c0011t0024g0163	15	332	0.0452	300	c.112 others(317): Show c.1128-556_1128-555insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(293): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCTGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	332	0.0030	300	c.112 others(317): Show c.1128-556_1128-555insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCAGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(293): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01168.hp2 HG01169.hp1 others(3): Show HG00673.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp2 HG03239.hp2 NA19043.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0007 a0001c0001 a0012c0007	a0001c0001t0001 a0001c0001t0003 a0012c0007t0001 a0001c0001t0001 a0001c0001t0003 a0012c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0003g0023 a0012c0007t0001g0008	6	332	0.0181	300	c.112 others(317): Show c.1128-556_1128-555insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(293): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp1 HG02717.hp2 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0021 a0001c0015t0021 a0001c0002t0021 a0001c0015t0021	a0001c0002t0021g0199 a0001c0015t0021g0200 a0001c0002t0021g0199 a0001c0015t0021g0200	2	332	0.0060	300	c.112 others(317): Show c.1128-556_1128-555insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649513	A A	ATGCCCAC others(293): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0181 a0001c0002t0003g0181	1	332	0.0030	300	c.112 others(318): Show c.1128-1105_1128-806dupCGGTGCCGGGTGACAGTTAACTCCCGC GCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGC GCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGC GCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGC GCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGC GCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGC GCTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIR_chrX_15379799_15498333	15401360	G G	GTAAACCT others(293): Show GTAAACCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG03486.hp2 HG02451.hp1 HG02647.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0129 a0001c0002t0001g0137 a0002c0003t0003g0095 a0001c0002t0001g0129 a0001c0002t0001g0137 a0002c0003t0003g0095	3	272	0.0110	300	c.611 others(317): Show c.611-3830_611-3829insTCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAGAAAGGTTTA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9			chrX	TogoVar
PLEKHG4B_chr5_87168_194966	194146	A A	ACTGTCCT others(293): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCAGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02896.hp1 HG02897.hp1 others(4): Show HG02723.hp1 HG02896.hp1 HG02897.hp1 HG03540.hp1 HG06807.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0007 a0001c0036 a0001c0007 a0001c0036	a0001c0007t0008 a0001c0007t0109 a0001c0007t0110 others(1): Show a0001c0007t0008 a0001c0007t0109 a0001c0007t0110 a0001c0036t0077	a0001c0007t0008g0143 a0001c0007t0008g0145 a0001c0007t0008g0146 others(4): Show a0001c0007t0008g0143 a0001c0007t0008g0145 a0001c0007t0008g0146 a0001c0007t0008g0150 a0001c0007t0109g0147 a0001c0007t0110g0151 a0001c0036t0077g0149	7	210	0.0333	300	c.11 others(313): Show c.11823_*11824insCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCAGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding		4181		chr5	TogoVar
PLIN1_chr15_89659367_89684367	89663551	G G	GCCAGGGC others(293): Show GCCAGGGCCACAGAGTCAGCGTCAGGGCCACAGAGTCAGCTCCAGGGCCA CAGAGTCAGCGCCAGGGCCACAGAGTCAGCGCCAGGGCCACAGAGTCAGC TCCAGGGCCACAGAGTCAGCGCCAGGGCCACAGAGTCAGTTCCAGGGCCA CAGAGTCAGTGCCAGGGCCACAGAGTCAGCGCCAGGGCCACAGAGTCAGT TCCAGGGCCACAGAGTCAGCGCCAGGGCCACAGAGTCAGCTCCAGGGCCA CAGAGTCAGCGCCAGGGCCACAGAGTCAGTTCCAGGGCCACAGAGTCAGC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0009 a0005c0012t0009	a0005c0012t0009g0099 a0005c0012t0009g0099	1	460	0.0022	300	c.20 others(311): Show c.2031_*2032insAGCTGACTCTGTGGCCCTGGAACTGACTCTGTGG CCCTGGCGCTGACTCTGTGGCCCTGGAGCTGACTCTGTGGCCCTGGCGCT GACTCTGTGGCCCTGGAACTGACTCTGTGGCCCTGGCGCTGACTCTGTGG CCCTGGCACTGACTCTGTGGCCCTGGAACTGACTCTGTGGCCCTGGCGCT GACTCTGTGGCCCTGGAGCTGACTCTGTGGCCCTGGCGCTGACTCTGTGG CCCTGGCGCTGACTCTGTGGCCCTGGAGCTGACTCTGTGGCCCTGACGCT GACTCTGTGGCCCTGG	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		815		chr15	TogoVar
PLIN3_chr19_4833341_4872667	4839823	G G	GCCAGGCT others(293): Show GCCAGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA GCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCTGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCAATCTTGACTCACTGCAAGCTCCACCTCCCAGGTTCACACCATT CTCCTGCCTCAACCACCTGAGTAGCTGGGACTACAGGCGCCCACCACCAC A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02258.hp2 others(9): Show HG01884.hp1 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02717.hp1 HG02886.hp1 HG02896.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0026 a0002c0001 others(2): Show a0001c0003 a0001c0026 a0002c0001 a0002c0007 a0002c0011	a0001c0003t0001 a0001c0026t0001 a0002c0001t0001 others(4): Show a0001c0003t0001 a0001c0026t0001 a0002c0001t0001 a0002c0007t0001 a0002c0007t0003 a0002c0011t0001 a0002c0011t0003	a0001c0003t0001g0083 a0001c0003t0001g0267 a0001c0026t0001g0162 others(8): Show a0001c0003t0001g0083 a0001c0003t0001g0267 a0001c0026t0001g0162 a0002c0001t0001g0310 a0002c0007t0001g0341 a0002c0007t0003g0002 a0002c0007t0003g0017 a0002c0007t0003g0018 a0002c0007t0003g0030 a0002c0011t0001g0404 a0002c0011t0003g0031	12	446	0.0269	300	c.961 others(315): Show c.961-288_961-287insTGTGGTGGTGGGCGCCTGTAGTCCCAGCTA CTCAGGTGGTTGAGGCAGGAGAATGGTGTGAACCTGGGAGGTGGAGCTTG CAGTGAGTCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAGGCCGGGTGTGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGGTCA GGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCTGG	PLIN3	ENSG00000105355.9	transcript	ENST00000221957.9	protein_coding	7/7			chr19	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(293): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT ATAATATATTATATATATTATATATAATATATTATATATATTATATTATA TATAATATATTATATATATTATATTATATATAATATATTATATATATTAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	286	0.0035	300	c.-50 others(311): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATATATAATATATTATATATATTATATATAATATATTATATATAATATA ATATATATAATATATTATATATAATATATTATATATAATATATTATATAT AATATAATATATATAAATATATTTTTATATATAATAATTATATTATATAT AATATATTTTTATATAAATATATATTATATATTTTTATATAAATATATAT TATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(293): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATATATAATATATTATATATATTATA TATAATATATTATATATATTATATTATATATAATATATTATATATATTAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	286	0.0035	300	c.-50 others(311): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATATATAATATATTATATATAATATAT ATAATATATTATATATAATATATTATATATAATATATTATATATAATATA ATATATATAATATATTATATATAATATATTATATATAATATATTATATAT AATATAATATATATAAATATATTTTTATATATAATAATTATATTATATAT AATATATTTTTATATAAATATATATTATATATTTTTATATAAATATATAT TATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PODNL1_chr19_13926187_13943417	13937005	A A	ACAATCGA others(293): Show ACAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCA CAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACC CCACATGCCACAACACCCCCACAATCGACCCCAAATGCGCCATCACCCCC GCAATCAACCCCACATGCCACAACACCCCCACAATCGACCCCAAATGCGC CATCACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCAATCGACC CCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCACAACACCCCC G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	432	0.0023	300	c.226 others(315): Show c.226-546_226-545insCGGGGGTGTTGTGGCATGTGGGGTTGATTG CGGGGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTG GGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGTGGGGGTGTT GTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTG TGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTG GGGTCGATTGCGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGAT GGCGCATTTGGGGTCGATTG	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
PODNL1_chr19_13926187_13943417	13937005	A A	ACAATCGA others(293): Show ACAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCA CAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACC CCACATGCCACAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCC GCAATCAACCCCACATGCCACAACACCCCCACAATCGACCCCAAATGCGC CATCACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCAATCGACC CCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCACAACACCCCC G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	432	0.0023	300	c.226 others(315): Show c.226-546_226-545insCGGGGGTGTTGTGGCATGTGGGGTTGATTG CGGGGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTG GGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGTGGGGGTGTT GTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTG CGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTG GGGTCGATTGCGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGAT GGCGCATTTGGGGTCGATTG	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
PODNL1_chr19_13926187_13943417	13937005	A A	ACAATCGA others(293): Show ACAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCA CAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACC CCACATGCCACAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCC GCAATCAACCCCACATGCCACAACACCCCCGCAATCGACCCCAAATGCGC CATCACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCAATCGACC CCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCACAACACCCCC G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp1 HG02723.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0112 a0001c0001t0001g0115	2	432	0.0046	300	c.226 others(315): Show c.226-546_226-545insCGGGGGTGTTGTGGCATGTGGGGTTGATTG CGGGGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTG GGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGCGGGGGTGTT GTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTG CGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTG GGGTCGATTGCGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGAT GGCGCATTTGGGGTCGATTG	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
PODNL1_chr19_13926187_13943417	13937114	A A	ACAACACC others(293): Show ACAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAAC CCCACATGCCACAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCC CGCAATCAACCCCACATGCCACAACACCCCCACAATCGACCCCAAATGCG CCATCACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCAATCGAC CCCAAATGTGCCATCACCCCCGCAATCAACCCCACATGCCCCAACACCCC CGCAATCGACCCCAAATGTGCCATCACCCCCGCAATCAACCCCACATGCC C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01069.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	2	432	0.0046	300	c.226 others(315): Show c.226-655_226-654insGGGCATGTGGGGTTGATTGCGGGGGTGATG GCACATTTGGGGTCGATTGCGGGGGTGTTGGGGCATGTGGGGTTGATTGC GGGGGTGATGGCACATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTGG GGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGTGGGGGTGTTG TGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGC GGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGG GGTCGATTGCGGGGGTGTTG	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
PODNL1_chr19_13926187_13943417	13937174	C C	CCAACACC others(293): Show CCAACACCCCCGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAAC CCCACATGCCACAACACCCCCGCAATCGACCCCAAATGTGCCATCACCCC CGCAATCAACCCCACATGCCCCAACACCCCCGCAATCGACCCCAAATGTG CCATCACCCCCGCAATCAACCCCACATGCCCCAACACCCCCGCAATCGAC CCCAAATGTGCCATCACCCCCGCAATCAACCCCACATGCCCCAACACCCC CGCAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCC A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	2	432	0.0046	300	c.225 others(315): Show c.225+610_225+611insTGGCATGTGGGGTTGATTGCGGGGGTGATG GCGCATTTGGGGTCGATTGCGGGGGTGTTGGGGCATGTGGGGTTGATTGC GGGGGTGATGGCACATTTGGGGTCGATTGCGGGGGTGTTGGGGCATGTGG GGTTGATTGCGGGGGTGATGGCACATTTGGGGTCGATTGCGGGGGTGTTG GGGCATGTGGGGTTGATTGCGGGGGTGATGGCACATTTGGGGTCGATTGC GGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGG GGTCGATTGCGGGGGTGTTG	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
POLN_chr4_2066918_2247121	2080410	G G	GGGGGTGG others(293): Show GGGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGTGGC AGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCATGGGGCACACTGCCTGG CACTGGTGGCAGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGGGCA CACTGCCTGGCACTGGTGGCAGCAACAGGTAGGGGTGGGGGCAGAGCTGG GCATGGGGCACACTGCCTGGCACTGGTGGCAGCAACAGGTAGGGGTGGGG GCAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGTGGCAGCAACAGGT A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	194	0.0052	300	c.238 others(317): Show c.2387+547_2387+548insTACCTGTTGCTGCCACCAGTGCCAGGCA GTGTGCCCCACGCCCAGCTCTGCCCCCACCCCTACCTGTTGCTGCCACCA GTGCCAGGCAGTGTGCCCCATGCCCAGCTCTGCCCCCACCCCTACCTGTT GCTGCCACCAGTGCCAGGCAGTGTGCCCCACGCCCAGCTCTGCCCCCACC CCTACCTGTTGCTGCCACCAGTGCCAGGCAGTGTGCCCCATGCCCAGCTC TGCCCCCACCCCTACCTGTTGCTGCCACCAGTGCCAGGCAGTGTGCCCCA CGCCCAGCTCTGCCCCCACCCC	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	23/25			chr4	TogoVar
POLN_chr4_2066918_2247121	2080410	G G	GGGGGTGG others(293): Show GGGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGTGGC AGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGG CACTGGTGGCAGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGGGCA CACTGCCTGGCACTGGTGGCAGCAACAGGTAGGGGTGGGGGCAGAGCTGG GCGTGGGGCACACTGCCTGGCACTGGTGGCAGCAACAGGTAGGGGTGGGG GCAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGTGGCAGCAACAGGT A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00621.hp2 others(68): Show HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01891.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02145.hp2 HG02280.hp2 HG02293.hp2 HG02523.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03834.hp1 HG03927.hp1 HG06807.hp1 NA18612.hp2 NA18941.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18972.hp2 NA18975.hp2 NA18986.hp2 NA19000.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp1 NA19086.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0009 a0011	a0001c0002 a0001c0003 a0001c0013 others(5): Show a0001c0002 a0001c0003 a0001c0013 a0002c0001 a0003c0004 a0007c0009 a0009c0010 a0011c0015	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0013t0001 a0002c0001t0001 a0002c0001t0004 a0003c0004t0001 a0007c0009t0001 a0009c0010t0001 a0011c0015t0001	a0001c0002t0001g0015 a0001c0002t0001g0029 a0001c0002t0001g0040 others(68): Show a0001c0002t0001g0015 a0001c0002t0001g0029 a0001c0002t0001g0040 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0003t0001g0065 a0001c0003t0002g0186 a0001c0003t0002g0188 a0001c0013t0001g0027 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0109 a0002c0001t0001g0112 a0002c0001t0001g0115 a0002c0001t0001g0117 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0123 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0128 a0002c0001t0001g0131 a0002c0001t0001g0134 a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0137 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0149 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0004g0013 a0003c0004t0001g0102 a0003c0004t0001g0110 a0003c0004t0001g0118 a0003c0004t0001g0150 a0007c0009t0001g0122 a0009c0010t0001g0127 a0011c0015t0001g0140	71	194	0.3660	300	c.238 others(317): Show c.2387+547_2387+548insTACCTGTTGCTGCCACCAGTGCCAGGCA GTGTGCCCCACGCCCAGCTCTGCCCCCACCCCTACCTGTTGCTGCCACCA GTGCCAGGCAGTGTGCCCCACGCCCAGCTCTGCCCCCACCCCTACCTGTT GCTGCCACCAGTGCCAGGCAGTGTGCCCCACGCCCAGCTCTGCCCCCACC CCTACCTGTTGCTGCCACCAGTGCCAGGCAGTGTGCCCCACGCCCAGCTC TGCCCCCACCCCTACCTGTTGCTGCCACCAGTGCCAGGCAGTGTGCCCCA CGCCCAGCTCTGCCCCCACCCC	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	23/25			chr4	TogoVar
POLN_chr4_2066918_2247121	2080419	G G	GGCAGAGC others(293): Show GGCAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGTGGCAGCAACAGG TAGGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGTGG CAGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTG GCACTGGTGGCAGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGGGC ACACTGCCTGGCACTGGTGGCAGCAACAGGTAGGGGTGGGGGCAGAGCTG GGCGTGGGGCACACTGCCTGGCACTGGTGGCAGCAACAGGTAGGGGTGGG A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0108 a0002c0001t0001g0108	1	194	0.0052	300	c.238 others(317): Show c.2387+538_2387+539insTCCCACCCCTACCTGTTGCTGCCACCAG TGCCAGGCAGTGTGCCCCACGCCCAGCTCTGCCCCCACCCCTACCTGTTG CTGCCACCAGTGCCAGGCAGTGTGCCCCACGCCCAGCTCTGCCCCCACCC CTACCTGTTGCTGCCACCAGTGCCAGGCAGTGTGCCCCACGCCCAGCTCT GCCCCCACCCCTACCTGTTGCTGCCACCAGTGCCAGGCAGTGTGCCCCAC GCCCAGCTCTGCCCCCACCCCTACCTGTTGCTGCCACCAGTGCCAGGCAG TGTGCCCCACGCCCAGCTCTGC	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	23/25			chr4	TogoVar
POLN_chr4_2066918_2247121	2080551	C C	CGTGGGGC others(293): Show CGTGGGGCACACTGCCTGGCACTGGTGGCAGCAACAGGTAGGGGTGGGGG CAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGTGGCAGCAACAGGTA GGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGGCACTGGTGGCA GCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGGGCACACTGCCTGGC ACTGGTGGCAGCAACAGGTAGGGGTGGGGGCAGAGCTGGGCGTGGGGCAC ACTGCCTGGCACTGGTGGCAGCAACAGGTAGGGGTGGGGGCAGAGCTGGG T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	194	0.0052	300	c.238 others(317): Show c.2387+406_2387+407insACCCAGCTCTGCCCCCACCCCTACCTGT TGCTGCCACCAGTGCCAGGCAGTGTGCCCCACGCCCAGCTCTGCCCCCAC CCCTACCTGTTGCTGCCACCAGTGCCAGGCAGTGTGCCCCACGCCCAGCT CTGCCCCCACCCCTACCTGTTGCTGCCACCAGTGCCAGGCAGTGTGCCCC ACGCCCAGCTCTGCCCCCACCCCTACCTGTTGCTGCCACCAGTGCCAGGC AGTGTGCCCCACGCCCAGCTCTGCCCCCACCCCTACCTGTTGCTGCCACC AGTGCCAGGCAGTGTGCCCCAC	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	23/25			chr4	TogoVar
POLR2M_chr15_57701714_57722557	57702490	A A	ACAGGAAA others(293): Show ACAGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA20300.hp1 HG02055.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0019 a0002c0003t0003 a0002c0003t0019	a0002c0003t0003g0038 a0002c0003t0019g0102 a0002c0003t0003g0038 a0002c0003t0019g0102	2	404	0.0050	300	c.-43 others(311): Show c.-4353_-4352insCAGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTG	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding		4223		chr15	TogoVar

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Search Results (Total: 10000 hits)