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
NALCN_chr13_101048776_101421508	101391820	T T	TAAAAAAT others(195): Show TAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGCAGTCCG ACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0172 a0001c0008t0001g0172	1	176	0.0057	202	c.291 others(219): Show c.291+3362_291+3363insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	3/43			chr13	TogoVar
NCAPG2_chr7_158626169_158709804	158667579	C C	CCTTACCG others(195): Show CCTTACCGACCCTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGC CCT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	378	0.0027	202	c.148 others(221): Show c.1480-2830_1480-2829insAGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGA GGGCGGAGGGACCCAGGGTCGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667881	A A	ACTGGGTC others(195): Show ACTGGGTCCCTCCGCCCTCCCTTACCTACCCTGTGGCCCTCCGCCCTCCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCTACCCTG TGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCG ACC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	378	0.0027	202	c.148 others(221): Show c.1480-3132_1480-3131insGGTCGGTAAGGAAGGCGGAGGGACCC AGTAGTGGGTAAGAGGGTGGAGGGCCACAGGGTAGGTAAGGCGGGCGGAG GGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGCCACAGGGT AGGTAAGGGAGGGCGGAGGGACCCAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFV3_chr21_42888309_42918299	42894362	A A	ATATATAT others(195): Show ATATATATTATATATAAATATATATTATATATATTATATATAATATATAT TATATTAAATATATATTATATATATTATATATAATATATTAAATATATAT TATATATATTATATATAATATATATTATATATAATATATATTATATATAT TATATATAATACATATTATATATAATATATATTATATATAATATATATTA TAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0152 a0001c0001t0016g0152	1	348	0.0029	202	c.48+ others(215): Show c.48+988_48+989insTATATATAAATATATATTATATATATTATATA TAATATATATTATATTAAATATATATTATATATATTATATATAATATATT AAATATATATTATATATATTATATATAATATATATTATATATAATATATA TTATATATATTATATATAATACATATTATATATAATATATATTATATATA ATATATATTATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEGR1_chr1_71390943_72287539	71928131	C C	CATATGTA others(195): Show CATATGTATATATACACATATGTATATATACACACATATGTATATATACA CACATATGTATATATACACATATGTATATATGTATATATACACACATATG TATATATACACATATGTATATATGTATATATACACACATATGTATATATA CACATATGTATATATGTATATATACACACATATGTATATATACACATATG TAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	64	0.0156	202	c.409 others(219): Show c.409+6947_409+6948insATACATATGTGTATATATACATATGTGT GTATATATACATATATACATATGTGTATATATACATATGTGTGTATATAT ACATATATACATATGTGTATATATACATATGTGTGTATATATACATATAT ACATATGTGTATATATACATATGTGTGTATATATACATATGTGTGTATAT ATACATATGTGTATATATACATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEU4_chr2_241804193_241822413	241806324	A A	ACCTCTGC others(195): Show ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCC CCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0108 a0002c0003t0002g0108	1	319	0.0031	202	c.-29 others(213): Show c.-2954_-2953insCCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2868		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807970	A A	ACTCTCCC others(195): Show ACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCT CAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC TCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	319	0.0031	202	c.-13 others(213): Show c.-1308_-1307insCTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCC ACCCTCCCTCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCC TCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACTCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1222		chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993497	T T	TCTCCCCC others(195): Show TCTCCCCCCCCTCCCCCCCTCTCCCCCCCTCTCCCCCCCCCCTCCCCCAC CTCTCCCCCCTCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCTCCCCC TCCACCCTCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCC CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0014 a0002c0006t0014	a0002c0006t0014g0172 a0002c0006t0014g0172	1	350	0.0029	202	c.55 others(213): Show c.5584_*5585insCTCCCCCCCCTCCCCCCCTCTCCCCCCCTCTCCC CCCCCCCTCCCCCACCTCTCCCCCCTCTCCCCCCCTCCCCCCTCCCCCCC TCCCCCCTCTCCCCCTCCACCCTCCCCCTCCCCCCTCTCCCCCTCCCTCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCTC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4869		chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	C C	CGGGGAGC others(195): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG GGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG GGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT GGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02129.hp1 HG02071.hp2 HG02129.hp1	a0001 a0001	a0001c0013 a0001c0024 a0001c0013 a0001c0024	a0001c0013t0003 a0001c0024t0001 a0001c0013t0003 a0001c0024t0001	a0001c0013t0003g0223 a0001c0024t0001g0224 a0001c0013t0003g0223 a0001c0024t0001g0224	2	324	0.0062	202	c.140 others(219): Show c.140+8559_140+8560insCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535570	G G	GGGGGGGG others(195): Show GGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	324	0.0031	202	c.140 others(219): Show c.140+8453_140+8454insACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OBI1_chr13_78609289_78664155	78659304	A A	AAAGAAAG others(195): Show AAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	296	0.0034	202	c.-18 others(211): Show c.-185_-184insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTTTCTT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		150		chr13	TogoVar
OLFM1_chr9_135082668_135126180	135124512	G G	GAAGGAAG others(195): Show GAAGGAAGGGGAAGGGGAAGGGGAAGGGAAGGAAGGAAGGAAGGAAGAAA GAAAGAAAGAGAAACGAAGAAAAGAAAGAAGAAAGAAAGAAAGAAAAAGG AAAGAAAGAAAAAGGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAGAA AGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0041 a0001c0005t0004g0041	1	360	0.0028	202	c.43 others(213): Show c.4334_*4335insAAGGAAGGGGAAGGGGAAGGGGAAGGGAAGGAAG GAAGGAAGGAAGAAAGAAAGAAAGAGAAACGAAGAAAAGAAAGAAGAAAG AAAGAAAGAAAAAGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAGAAAGA AAGAAAGAAAGAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3333		chr9	TogoVar
OPRL1_chr20_64075082_64105633	64094119	T T	TGGGGGGC others(195): Show TGGGGGGCAGTGTGGGGGTCAGTGTGGGGGCAGTGTGGGGGCAGTGTGGG GGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGG CAGTGTGGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGTGTGTGGGGGGCA GTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGTGT GTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0039 a0001c0001t0003g0007 a0001c0001t0003g0039	3	66	0.0455	202	c.233 others(219): Show c.233+1171_233+1172insGCAGTGTGGGGGTCAGTGTGGGGGCAGT GTGGGGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGG GGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGCGGG CAGTGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGTC AGTGTGCGGGCAGTGTGTGGGGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR11H4_chr14_20234286_20249349	20237113	T T	TATTACAC others(195): Show TATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCACA TATAAAATATATACCACATATTACACGTGGCACATATAAAATATATACCA CATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCA CATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATAC CAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00609.hp1 others(38): Show HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00738.hp1 HG02040.hp2 HG02132.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp2 HG02735.hp1 NA18747.hp2 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18976.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA18995.hp2 NA19006.hp2 NA19011.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0055 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0207 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0028 a0001c0001t0002g0164 a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0248 a0001c0001t0006g0002 a0001c0003t0001g0002 a0001c0003t0001g0166 a0001c0003t0001g0224	41	439	0.0934	202	c.-22 others(213): Show c.-2230_-2229insATTACACGTGGCACATATAAAATATATACCACAT ATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCACAT ATAAAATATATACCACATATTACACGTGGCACATATAAAATATATACCAC ATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCAC ATATAAAATATATACCAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2172		chr14	TogoVar
OR52E6_chr11_5835928_5846897	5844253	T T	TTATATTA others(195): Show TTATATTATATATATTATATATATTATATATATAATATATATTATATATA TTATATATAATATATATTATATATAATATATATAATATATATTATATATA ATATATATTATATATAATATATATAATATATATTATATATATTATATATT ATATATAATATATATTATATATATTATATATAATATATATAATATATATT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	450	0.0022	202	c.-23 others(213): Show c.-2357_-2356insTATAATATATATTATATATATTATATATAATATA TATAATATATATTATATATAATATATAATATATATAATATATATTATATA TATTATATATAATATATATTATATATAATATATATTATATATATTATATA TAATATATATTATATATAATATATATAATATATATTATATATATAATATA TATAATATATATAATATA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2357		chr11	TogoVar
PALD1_chr10_70473767_70573450	70554956	C C	CTCCCCTC others(195): Show CTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTC CCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCC CCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp2 HG03225.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0241 a0001c0004t0018g0242 a0001c0004t0018g0243 a0001c0004t0018g0241 a0001c0004t0018g0242 a0001c0004t0018g0243	3	308	0.0097	202	c.226 others(221): Show c.2262+7510_2262+7511insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCT TCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCCCT	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19			chr10	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(195): Show TCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCT CTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0296 a0001c0004t0010g0296	1	308	0.0033	202	c.226 others(221): Show c.2262+7532_2262+7533insTCCTCCCCTCCCCCTCCTCCCCTTCC TCCCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTC CCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC TCCCCTCCCCTCCCCTCCCCTCCCCT	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PASD1_chrX_151558675_151681739	151562857	C C	CCGGGCGG others(195): Show CCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGGCGGGGGGGGGGGCGG GGGGGGCGGGGGGCGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGCGGGGG GCGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGG GCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGG GCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0153 a0001c0002t0004g0153	1	221	0.0045	202	c.-10 others(213): Show c.-1010_-1009insCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGG CGGGGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGCGGGGGGCGGGGGGG GCGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGG CGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGG CGGGGGGCGGGGGGGGCG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		817		chrX	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGC others(195): Show GGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGG CGGGGGGCGGGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGG GGCGGGGGGCGGGGGGGCGGGGGGGGGGCGGGGGGGCGGGGGGGCGGGGG GGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGCGGGGGG GGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0002 a0008c0020t0002	a0008c0020t0002g0090 a0008c0020t0002g0090	1	221	0.0045	202	c.-95 others(211): Show c.-958_-957insGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGG GGGGCAGCTGGGGCGGGGGGCGGGGGGGGCGGGGGGGGGCGGGGGGGGCG GGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGGGCGGGGGGGC GGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGG GGGGGGCGGGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(195): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATGTATTACATATATGTAATACATATAT AAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	400	0.0025	202	c.70 others(213): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATGTATTACATAT ATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(195): Show CCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCC AGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACC CACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCC CCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGATAC GGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	292	0.0034	202	c.471 others(217): Show c.471+314_471+315insCCACCCACTGCCCAGATACGGACCCCCCCC GCCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGA CCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGA TACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCAC TGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	731898	C C	CCCCTCCC others(195): Show CCCCTCCCCTCGTGGGTGGGCGAGGTCCTCAGGGGCGTAGGGCGGGGCTC CCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGGCGTAGGGCGGGGCTCC CCCTCCCCTCGTGGGTGGGCGTGGGTCCTCAGGGGGGCGTAGGGCGGGGC TCCCCCTCCCCTCGTGGGGTGGGCGGTGGTCCTCAGGGGCGTAGGGCGGG GCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0353 a0001c0001t0002g0353	1	366	0.0027	202	c.-10 others(217): Show c.-10+791_-10+792insTCCCCTCGTGGGTGGGCGAGGTCCTCAGGG GCGTAGGGCGGGGCTCCCCTCCCCTCGTGGGTGGGCGTGGTCCTCAGGGG CGTAGGGCGGGGCTCCCCCTCCCCTCGTGGGTGGGCGTGGGTCCTCAGGG GGGCGTAGGGCGGGGCTCCCCCTCCCCTCGTGGGGTGGGCGGTGGTCCTC AGGGGCGTAGGGCGGGGCTCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK6_chr15_101298933_101494707	101311886	C C	CACCCTCA others(195): Show CACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0056 a0001c0012t0001g0056	1	336	0.0030	202	c.269 others(221): Show c.2699+1489_2699+1490insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGT	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDIA2_chr16_278164_292215	285931	C C	CCCCAACC others(195): Show CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCAACCCC AACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCAACCCCAACCCAACCCCAACCCCAACCCAA CCCCAACCCCAACCCCAACCCAACCCCAACCCCAACCCCAACCCCAACCC CAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0054 a0010c0018t0001g0054	1	436	0.0023	202	c.111 others(219): Show c.1119+237_1119+238insGCGGTTCTCCCAACCCCAACCCCAACCC CAACCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAAC CCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCAACCCCA ACCCCAACCCAACCCCAACCCCAACCCCAACCCAACCCCAACCCCAACCC CAACCCCAACCCCAACCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDPN_chr1_13578832_13622957	13588980	A A	AGCGCTAC others(195): Show AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0189 a0001c0001t0006g0189	1	446	0.0022	202	c.67+ others(217): Show c.67+4882_67+4883insGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGC	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDPN_chr1_13578832_13622957	13588980	A A	AGCGCTAC others(195): Show AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	446	0.0022	202	c.67+ others(217): Show c.67+4882_67+4883insGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGTGC	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDXK_chr21_43714129_43767299	43743548	C C	CTGCACCC others(195): Show CTGCACCCACCTCCCTCCCCCCAGCTCCCGAGCACTGTGGGGACACCTCG CCTGCACCCACCTCCTTCCCCCCAGCTCCCGAGCACTGTGGGGACACCCC GCCTGCACCCACCTCCCTCTCCCCCGCCCCCAGCATGTGGGGACACCTCG CCTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACCTC ACT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0141 a0001c0002t0003g0141	1	358	0.0028	202	c.248 others(217): Show c.248-155_248-154insAGCTCCCGAGCACTGTGGGGACACCTCGCC TGCACCCACCTCCTTCCCCCCAGCTCCCGAGCACTGTGGGGACACCCCGC CTGCACCCACCTCCCTCTCCCCCGCCCCCAGCATGTGGGGACACCTCGCC TGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACCTCAC TTGCACCCACCTCCCTCCCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIF1_chr15_64810632_64830647	64826621	A A	ATATAATA others(195): Show ATATAATATATATATATATATATATTATATATAATATATATAATTATATA TATATATATATATATATATATATTATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATTATATATATA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	348	0.0029	202	c.-10 others(213): Show c.-1073_-1072insATATATATATATAATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATAATAT ATATATATATATATATATATATATAATTATATATATTATATATAATATAT ATATATATATATATTATA	PIF1	ENSG00000140451.13	transcript	ENST00000559239.2	protein_coding		975		chr15	TogoVar
PIM1_chr6_37165152_37180428	37179403	A A	AATTATAT others(195): Show AATTATATATTATATATATAATATATAATATATAATATATATTATATATT ATATATTATATATTATACATAAAATATATATAATATATATTATATATAAT ATATATTATATATATTATATATTATATATTATATATTATATATAATATAT ATTATATATATTATATATTATATATTATATATAATATATAATATATATTA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	202	c.53 others(213): Show c.5312_*5313insATTATATATTATATATATAATATATAATATATAA TATATATTATATATTATATATTATATATTATACATAAAATATATATAATA TATATTATATATAATATATATTATATATATTATATATTATATATTATATA TTATATATAATATATATTATATATATTATATATTATATATTATATATAAT ATATAATATATATTATAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3976		chr6	TogoVar
PIM1_chr6_37165152_37180428	37179427	A A	ATAATATA others(195): Show ATAATATATAATATATATTATATATTATATATTATATATTATACATAAAA TATATATAATATATATTATATATAATATATATTATATAATATAAATATTA TAATATATATTATATATATTATATATATATATATTATATATATATAATAT ATATAATATATAATATAATATTATATAAATATATAATATATATATTATTA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	202	c.53 others(213): Show c.5336_*5337insTAATATATAATATATATTATATATTATATATTAT ATATTATACATAAAATATATATAATATATATTATATATAATATATATTAT ATAATATAAATATTATAATATATATTATATATATTATATATATATATATT ATATATATATAATATATATAATATATAATATAATATTATATAAATATATA ATATATATATTATTATAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		4000		chr6	TogoVar
PKD1_chr16_2083708_2140898	2104184	G G	GGGAGGGG others(195): Show GGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGG GGGAAAGGGAGGGGAAGGGGATAAGGGAGGGGAAGGGGGATAAGGGAGGG GAAGGGGGATAAGGGAGGGAAGGGGGATAAGGGAGGGGAAGGGGATAAGG GAGGGAAGGGGGATAAGGGAGGGGAAGGGGGAAAGGGAGGGGAAGGGGGA TAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0009 a0009	a0009c0048 a0009c0048	a0009c0048t0018 a0009c0048t0018	a0009c0048t0018g0004 a0009c0048t0018g0004	1	216	0.0046	202	c.816 others(219): Show c.8162-290_8162-289insTTATCCCCCTTCCCCTCCCTTTCCCCCT TCCCCTCCCTTATCCCCCTTCCCTCCCTTATCCCCTTCCCCTCCCTTATC CCCCTTCCCTCCCTTATCCCCCTTCCCCTCCCTTATCCCCCTTCCCCTCC CTTATCCCCTTCCCCTCCCTTTCCCCCTTCCCCTCCCTTATCCCCCTTCC CCTCCCTTATCCCCCTTCCCCTCC	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGAAGGGA others(195): Show GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18999.hp2 HG01952.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0157 a0001c0001t0001g0064 a0001c0001t0001g0157	2	306	0.0065	202	c.349 others(221): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKP3_chr11_389209_409908	398170	C C	CGTCACCT others(195): Show CGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCATCACCTCCATAC CCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACC TGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0168 a0001c0036t0001g0168	1	216	0.0046	202	c.106 others(219): Show c.1068+574_1068+575insGTACCCCCGCACACACCTGCATCACCTC CATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCAC ACACCTGTGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACC CCCGCACACACCTGCGTCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398221	C C	CACCTCCG others(195): Show CACCTCCGTCACCTCCGTACCCCCGCACACACCTGCATCACCTCCATACC CCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCT GTGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCA CAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG02886.hp1 HG03130.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0110 a0002c0013t0001g0179 a0002c0013t0001g0110 a0002c0013t0001g0179	2	216	0.0093	202	c.106 others(219): Show c.1068+563_1068+564insCCGTCACCTCCGTACCCCCGCACACACC TGCATCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCG TACCCCCGCACACACCTGTGTCACCTCCCTACCCCCACATATACCTCATC ACCTCCGTACACCCGCACATACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398256	A A	ATCACCTC others(195): Show ATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACAT ATACCTCATCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCCTACC CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCT GCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	216	0.0046	202	c.106 others(219): Show c.1068+606_1068+607insCCCCGCACACACCTGCGTCACCTCCCTA CCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTCCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCGTAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398269	A A	ACCCGCAC others(195): Show ACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGT ACC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0099 a0001c0003t0001g0099	1	216	0.0046	202	c.106 others(219): Show c.1069-663_1069-662insCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTC CGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G4A_chr1_186823949_186993981	186857071	C C	CTTTTAAC others(195): Show CTTTTAACATGGCAGTCATATATAATATATATTATATAATATTATATATT ATATATTATATATTATATAATATATATTATATAATATATATTATATATTA TATAATATAATTATATATTATATAATTATATAATTATATAATATATTATA TAATTATATAATTATATAATATATTATATAATTATATAATTATATAATAT ATT	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA19009.hp2 HG01993.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0105 a0001c0001t0001g0123	2	310	0.0065	202	c.33+ others(217): Show c.33+2684_33+2685insTTTTAACATGGCAGTCATATATAATATATA TTATATAATATTATATATTATATATTATATATTATATAATATATATTATA TAATATATATTATATATTATATAATATAATTATATATTATATAATTATAT AATTATATAATATATTATATAATTATATAATTATATAATATATTATATAA TTATATAATTATATAATATATT	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17			chr1	TogoVar
PLCXD1_chrX_276381_308356	281081	A A	AGGCCGTG others(195): Show AGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCA GGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGG AGGCCGTGCAGGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTTG CAGGGGGGAAGGGATGCCGTGCAGGGGAAGGGGAGGCCGTGCAGGCGGAG GGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0013 a0001c0001t0114g0013	1	176	0.0057	202	c.-62 others(211): Show c.-625_-624insGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAG CGGGGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCG TGCAGGGGGAGGGAGGCCGTGCAGGGGGGAGGGGAGGCCGTGCAGGGGGA AGGGGGGCCGTTGCAGGGGGGAAGGGATGCCGTGCAGGGGAAGGGGAGGC CGTGCAGGCGGAGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		299		chrX	TogoVar
PLEKHG4B_chr5_87168_194966	165224	G G	GGGGCGGA others(195): Show GGGGCGGAGCTCACACACTAATGCTGTGACGGAGCGGAGCTCACACTAAT GCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTC ACACAGTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGG CGGAGCTCACACTAATGCTCTGACGGGGCAGGGCTCACAGTAATGCTCTG ACA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0006 a0001c0037t0006	a0001c0037t0006g0045 a0001c0037t0006g0045	1	210	0.0048	202	c.347 others(221): Show c.3476+1691_3476+1692insACTAATGCTGTGACGGAGCGGAGCTC ACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGG CGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTC TGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCAGGGCTCACAGTA ATGCTCTGACAGGGCGGAGCTCACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165815	G G	GGAGCTCA others(195): Show GGAGCTCACACTAATGCTCTGACGGGGTGGAGCTCACACTAATGCTGTGA CAGGGGGCGGAGCTCACACAGTAATGCTCTGACGGGGCGGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTCTGATGGGACGGGGCTCACACAGTAATGCTGTGACGGG GCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0041 a0011c0023t0041	a0011c0023t0041g0184 a0011c0023t0041g0184	1	210	0.0048	202	c.347 others(221): Show c.3476+2268_3476+2269insAGCTCACACTAATGCTCTGACGGGGT GGAGCTCACACTAATGCTGTGACAGGGGGCGGAGCTCACACAGTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACT AATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGACGGGGCT CACACAGTAATGCTGTGACGGGGCAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165837	C C	CGGGGCGG others(195): Show CGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAA TGCTCTGACGGGGTGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGC GGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGA CAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0009 a0012c0013t0009	a0012c0013t0009g0016 a0012c0013t0009g0016	1	210	0.0048	202	c.347 others(221): Show c.3476+2296_3476+2297insAGCTCACACTAATGCTGTGACAGGGG GCGGGGCTCACAGTAATGCTCTGACGGGGTGGAGCTCACACTAATGCTCT GACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAA TGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTGTGACAGGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPPR1_chr9_101023727_101330135	101078223	G G	GGGGAAGG others(195): Show GGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGGAGGGGAAGGGGGAG GGGGAAGGGGGAGGGGGGAGGGGGGGAGGGGAAGGGGGAGGGGGAGGGGG GAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGGGAGGGGGGAG GGGGGAGGGGGGAGGGGGAGGGGAGGGGGGGGGAGGGGGGAGGGGGAGGG GGA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	203	0.0049	202	c.-46 others(221): Show c.-46+49124_-46+49125insAAGGGGGAGGGGAAGGGGGAGGGGGA GGGGGGAGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGGGAGGG GAAGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GGGAGGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGG GGGAGGGGGGAGGGGGAGGGGGAGGG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137517767	C C	CCACTCCA others(195): Show CCACTCCATCCCACACTCACTCACTCCACTCTGTCCACTCCATCCCTCAC TCACTCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTG TCCACTCCATCCCACACTCACTCACTCCACTCTGTCCACTCCATCCCTCA CTCACTCACTCCACTCTGTCCACTCCATCCCCACTCACTCACTCCACTCT GCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp1 HG02083.hp2 others(6): Show HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02622.hp2 HG02809.hp2 HG02897.hp2 HG03471.hp1 HG03579.hp1 NA19064.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0019 a0029	a0001c0002 a0002c0004 a0006c0009 others(3): Show a0001c0002 a0002c0004 a0006c0009 a0006c0027 a0019c0032 a0029c0038	a0001c0002t0001 a0002c0004t0001 a0006c0009t0001 others(3): Show a0001c0002t0001 a0002c0004t0001 a0006c0009t0001 a0006c0027t0001 a0019c0032t0001 a0029c0038t0001	a0001c0002t0001g0111 a0002c0004t0001g0032 a0002c0004t0001g0155 others(6): Show a0001c0002t0001g0111 a0002c0004t0001g0032 a0002c0004t0001g0155 a0006c0009t0001g0005 a0006c0009t0001g0017 a0006c0009t0001g0033 a0006c0027t0001g0160 a0019c0032t0001g0097 a0029c0038t0001g0153	9	188	0.0479	202	c.108 others(221): Show c.1084+2149_1084+2150insAGCAGAGTGGAGTGAGTGAGTGGGGA TGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTG GAGTGAGTGAGTGTGGGATGGAGTGGACAGAGTGGAGTGAGTGACGGGGG ATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGT GGAGTGAGTGAGTGTGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518569	C C	CCACTCCA others(195): Show CCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCAC TCACTCATTCCACTCTGTCCACTCCATCCTCACTCACTCACTCCACTCTG CTCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCCCA CTCACTCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCT GCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0182 a0004c0007t0002g0182	1	188	0.0053	202	c.108 others(221): Show c.1084+1347_1084+1348insAGCAGAGTGGAGTGAGTGACGGGGGA TGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTG GAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGAGG ATGGAGTGGACAGAGTGGAATGAGTGAGTGGGGGATGGAGTGAGCAGAGT GGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
POLG_chr15_89311320_89339824	89325037	A A	AGAGTGAG others(195): Show AGAGTGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	398	0.0025	202	c.194 others(219): Show c.1949+412_1949+413insACTCACTCTCTCACTCACTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCAC TCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCAC TCACTCACTCTCTCACTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP2R5C_chr14_101756709_101932977	101918490	C C	CCCCCCAC others(195): Show CCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCC TCTCGCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCC CCTCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCACCCCTCAG CCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACC CCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	138	0.0073	202	c.160 others(219): Show c.1608+636_1608+637insCGCCCCCCTCATCCCCCTCGCTCCTCTC GCCCCCCCACCCCTCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCA TCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCACCCCTCAGCCTTC TCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCC CCCCACCCCTCAGCCTTCTCCCCT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2122970	G G	GGTAGTTA others(195): Show GGTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATT TAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	286	0.0035	202	c.335 others(221): Show c.335-12290_335-12289insAGTTAGGATCATGGCTGTAGTTAGCG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGG TGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122989	G G	GTAGTTAG others(195): Show GTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTT AGGGTCACAGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGT AGT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0276	1	286	0.0035	202	c.335 others(221): Show c.335-12270_335-12269insTTAGGGTCACGGCTGTAGTTAGGGTC ACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAG TTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	161552492	T T	TCCAAGCC others(195): Show TCCAAGCCCCTCTCCCTCAGCTCTGTTCACCTCCACCTATGACTGTGAAT GATCTCACGGTGATCCTCCAAGCCCCTCTCCCTCAGCTCTGTTCACCTCC GCCTATGACTGTGAATGATCTCACGGTGATCCTCCAAGCCCCTCTCCCTC AGCTCTGTTCACCTCCCGCATACCCGCATATGACTGAATGATCTCAGTTT CCG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	32	0.0313	202	c.934 others(219): Show c.934-3490_934-3489insCGGAAACTGAGATCATTCAGTCATATGC GGGTATGCGGGAGGTGAACAGAGCTGAGGGAGAGGGGCTTGGAGGATCAC CGTGAGATCATTCACAGTCATAGGCGGAGGTGAACAGAGCTGAGGGAGAG GGGCTTGGAGGATCACCGTGAGATCATTCACAGTCATAGGTGGAGGTGAA CAGAGCTGAGGGAGAGGGGCTTGG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	8/11			chr6	TogoVar
PTGES_chr9_129733349_129758042	129733403	T T	TGCTGGGA others(195): Show TGCTGGGATTATAGGCACGCGCCACCACACCTGGCTAATCGTTGTTTTTG TTGTTATTGTTGTTTGTGTTTTTGTTGTTGTTGTTGTTGTTTGAGACGGA GTCTCAATCTGTCACCAGGCTGGGGTACAGTGGTGTGATCTTGGCTCATT GCAACCTCCGACTCCAAGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGA GTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	426	0.0024	202	c.62 others(213): Show c.6207_*6208insTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAA CCTTGGAGTCGGAGGTTGCAATGAGCCAAGATCACACCACTGTACCCCAG CCTGGTGACAGATTGAGACTCCGTCTCAAACAACAACAACAACAACAAAA ACACAAACAACAATAACAACAAAAACAACGATTAGCCAGGTGTGGTGGCG CGTGCCTATAATCCCAGC	PTGES	ENSG00000148344.11	transcript	ENST00000340607.5	protein_coding		4945		chr9	TogoVar

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Search Results (Total: 10000 hits)