Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ODAD3_chr19_11415605_11440121	11424885	A A	ATACCTAT others(95): Show ATACCTATGTGTATATATGTATATATGTGTATATGTACCTATGTGTATAT ATGTATATATGTGTATATGTACCTATGTGTATATATGTATATATGTGTAT ATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00733.hp2 others(12): Show HG00323.hp1 HG00639.hp2 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01257.hp2 HG01928.hp1 HG01928.hp2 HG02148.hp2 NA18957.hp2 NA19012.hp2 NA19058.hp1 NA19065.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0076 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0007t0001g0075 a0001c0007t0001g0084	15	398	0.0377	102	c.964 others(117): Show c.964-857_964-856insCATATACACATATATACATATATACACATA GGTACATATACACATATATACATATATACACATAGGTACATATACACATA TATACATATATACACATAGGTA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OLFM1_chr9_135082668_135126180	135118994	C C	CGGGTCTT others(95): Show CGGGTCTTTGGAGTACTCACTGGATCTTTGGATTACTCACTGGATCTTTG GAAGTGCTCACTGGATCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTC AGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18984.hp1 NA19000.hp2 others(2): Show NA18947.hp2 NA18984.hp1 NA19000.hp2 NA19005.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116	5	360	0.0139	102	c.784 others(117): Show c.784-410_784-409insGTGGGTCTTTGGAGTACTCACTGGATCTTT GGATTACTCACTGGATCTTTGGAAGTGCTCACTGGATCTTTGGAAGTGCT CACTGGGTCTTTGGAGTGCTCA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OLFM1_chr9_135082668_135126180	135118994	C C	CGGGTCTT others(95): Show CGGGTCTTTGGATTACTCACTGGATCTTTGGATTACTCACTGGATCTTTG GAAGTGCTCACTGGATCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTC AGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	360	0.0028	102	c.784 others(117): Show c.784-499_784-498insTTACTCACTGGATCTTTGGATTACTCACTG GATCTTTGGAAGTGCTCACTGGATCTTTGGAAGTGCTCACTGGGTCTTTG GAGTGCTCAGTGGGTCTTTGGA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ONECUT3_chr19_1748506_1785988	1768905	G G	GTGGAGGT others(95): Show GTGGAGGTGGTGGAGGTGGAGGTGGTGGAGGTGAAGGTGGAGGAGGTAGA GGTAGAGGTGCTGGAGGTGGACGTAATGGAGGTGGAAGTGGAGGTGGAGG TGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19005.hp1 NA19057.hp2 others(1): Show HG04184.hp1 NA19005.hp1 NA19057.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0161 a0001c0001t0166 a0001c0001t0026 a0001c0001t0161 a0001c0001t0166	a0001c0001t0026g0144 a0001c0001t0026g0162 a0001c0001t0161g0245 others(1): Show a0001c0001t0026g0144 a0001c0001t0026g0162 a0001c0001t0161g0245 a0001c0001t0166g0281	4	370	0.0108	102	c.119 others(121): Show c.1193-6239_1193-6238insTGGAGGTGGAGGTGGTGGAGGTGAAG GTGGAGGAGGTAGAGGTAGAGGTGCTGGAGGTGGACGTAATGGAGGTGGA AGTGGAGGTGGAGGTGATGGAGGTGG	ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
OPCML_chr11_132409981_133537501	133141003	C C	CGAAGAAG others(95): Show CGAAGAAGACGAAGAAGACGAAGACGAAGAAGACGAAGACGAAGAAGAAG AAGACGAAGAAGAAGAAGACGAAGAAGACGAAGAAGACGAAGAAGACGAA GAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0054 a0001c0001t0025g0054	1	68	0.0147	102	c.62- others(121): Show c.62-197994_62-197993insTTCTTCGTCTTCTTCGTCTTCTTCGT CTTCTTCGTCTTCTTCTTCTTCGTCTTCTTCTTCTTCGTCTTCGTCTTCT TCGTCTTCGTCTTCTTCGTCTTCTTC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPRL1_chr20_64075082_64105633	64105613	G G	GGGTGATG others(95): Show GGGTGATGGTGGGGGTGGTGGGGGGGGTGATGGTGGGGGTGGTGGGCGGG GTGGGCGTGATGATGGGGGTGGGGGTGGGGGTGGGGGTGATGGTGGGCGT GAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	66	0.0152	102	c.68 others(113): Show c.6814_*6815insGGTGATGGTGGGGGTGGTGGGGGGGGTGATGGTG GGGGTGGTGGGCGGGGTGGGCGTGATGATGGGGGTGGGGGTGGGGGTGGG GGTGATGGTGGGCGTGAT	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding		4981		chr20	TogoVar
OPRL1_chr20_64075082_64105633	64105613	G G	GGGTGATG others(95): Show GGGTGATGGTGGGGGTGGTGGGGGGGGTGATGGTGGGGGTGGTGGGGGGG GTGGGCGTGATGATGGGGGTGGGGGTGGGGGTGGGGGTGATGGTGGGCGT GAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0012 a0001c0005t0006g0012	1	66	0.0152	102	c.68 others(113): Show c.6814_*6815insGGTGATGGTGGGGGTGGTGGGGGGGGTGATGGTG GGGGTGGTGGGGGGGGTGGGCGTGATGATGGGGGTGGGGGTGGGGGTGGG GGTGATGGTGGGCGTGAT	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding		4981		chr20	TogoVar
OR11H4_chr14_20234286_20249349	20236305	C C	CTATATAT others(95): Show CTATATATTTATATATTACATATAAATATATAGTATATATATTTATATAT TACATATAAATATATAGTATATATATTTATATATTACATATAAATATATA GTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	439	0.0023	102	c.-30 others(113): Show c.-3038_-3037insTATATATTTATATATTACATATAAATATATAGTA TATATATTTATATATTACATATAAATATATAGTATATATATTTATATATT ACATATAAATATATAGTA	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2980		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20236873	T T	TATATTAC others(95): Show TATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCA CATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATAC CAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	439	0.0023	102	c.-24 others(113): Show c.-2470_-2469insATATTACACGTGGCACATATAAAATATATACCAC ATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCAC ATATAAAATATATACCAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2412		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20236907	T T	TATATTAC others(95): Show TATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCA CATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATAC CAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	439	0.0023	102	c.-24 others(113): Show c.-2436_-2435insATATTACACGTGGCACATATAAAATATATACCAC ATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCAC ATATAAAATATATACCAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2378		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237009	T T	TATATTAC others(95): Show TATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCA CATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATAC CAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	439	0.0023	102	c.-23 others(113): Show c.-2334_-2333insATATTACACGTGGCACATATAAAATATATACCAC ATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCAC ATATAAAATATATACCAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2276		chr14	TogoVar
OR2L13_chr1_248090184_248106163	248103035	T T	TTTAATTA others(95): Show TTTAATTAATTTAAATAATAAATAAAATAATTATTAATAATTTAATTAAA TAATAAATAAAATAATTATTAATAATTTAATTAAATAATAAATAAAATAA TTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 NA18985.hp1 HG03130.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0007 a0001c0001t0001g0046	2	440	0.0046	102	c.27 others(113): Show c.2721_*2722insTTAATTAATTTAAATAATAAATAAAATAATTATT AATAATTTAATTAAATAATAAATAAAATAATTATTAATAATTTAATTAAA TAATAAATAAAATAATTA	OR2L13	ENSG00000196071.6	transcript	ENST00000358120.4	protein_coding		1873		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306608	C C	CCCCTGAG others(95): Show CCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGAA CCCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGA GCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0003 a0017c0026t0003	a0017c0026t0003g0043 a0017c0026t0003g0043	1	406	0.0025	102	c.-34 others(113): Show c.-3453_-3452insAGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGG GGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG CGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3185		chr1	TogoVar
OR4M2B_chr15_21632909_21643992	21642192	C C	CATATATA others(95): Show CATATATATGTATATATATATACACACATATATATGTATATATATATATA CACACATATATATGTATATATATATACACACACATATATATATGTATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0000 a0010c0014t0001g0000	1	215	0.0047	102	c.32 others(113): Show c.3244_*3245insATATATATGTATATATATATACACACATATATAT GTATATATATATATACACACATATATATGTATATATATATACACACACAT ATATATATGTATATATAT	OR4M2B	ENSG00000182974.3	transcript	ENST00000332663.3	protein_coding		3201		chr15	TogoVar
OR52E6_chr11_5835928_5846897	5844216	T T	TTTATATA others(95): Show TTTATATATATTTTTATATATAATATATATTATATATATTATATATATTA TATATTATATATATTATATTATATATAATATATATTATATATAATATATA TTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA18951.hp1 NA18974.hp2 others(4): Show HG02056.hp2 NA18951.hp1 NA18974.hp2 NA18979.hp1 NA18999.hp1 NA19068.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	450	0.0156	102	c.-23 others(113): Show c.-2320_-2319insTAATATATATTATATATAATATATATTATATATA ATATAATATATATAATATATAATATATATAATATATATAATATATATTAT ATATAAAAATATATATAA	OR52E6	ENSG00000205409.3	transcript	ENST00000329322.5	protein_coding		2320		chr11	TogoVar
OR5AN1_chr11_59353895_59376714	59356682	A A	AGAGGGGA others(95): Show AGAGGGGAGGGGAGGGAAGGGAAAGGGAGGGAAGGGAAGGGGAGGGGACG GAAGGGAAAGGGAGGGGAGGGGAGGGAAGGGAAGGGGAGGGGAGGGGGGA GGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0029 a0002c0011t0029	a0002c0011t0029g0047 a0002c0011t0029g0047	1	358	0.0028	102	c.-26 others(113): Show c.-2604_-2603insGAGGGGAGGGGAGGGAAGGGAAAGGGAGGGAAGG GAAGGGGAGGGGACGGAAGGGAAAGGGAGGGGAGGGGAGGGAAGGGAAGG GGAGGGGAGGGGGGAGGG	OR5AN1	ENSG00000176495.3	transcript	ENST00000641998.1	protein_coding		2212		chr11	TogoVar
ORC5_chr7_104121341_104213013	104124143	G G	GTTCATGG others(95): Show GTTCATGGGTAAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATA TTTTCAGACCACAGTCTGAGGATGACGGACAGTAACTGAACTCAAGGAAA GCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0145 a0001c0001t0007g0145	1	366	0.0027	102	c.27 others(113): Show c.2704_*2705insTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCC TCAGACTGTGGTCTGAAAATATTAAATGGAAAACACCAGAAATACAGTAG TCCCCACTTACCCATGAA	ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding		2197		chr7	TogoVar
P2RX1_chr17_3891592_3921465	3918178	G G	GGAAGGAA others(95): Show GGAAGGAAGGGAGGAAGGGAAGGGGAGGGAGGGAAGGAAGGGAGGGAAGG GAAGAGAGGGAGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGAAGGAAG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG02630.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0059 a0001c0001t0012g0061 a0001c0001t0006g0059 a0001c0001t0012g0061	2	378	0.0053	102	c.-19 others(113): Show c.-1954_-1953insTCCCTTCCTTCCTCCCTCCCTCCCCTCCCTCCCT CCCCTCCCTCCCTCTCTTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCCTT CCCTTCCTCCCTTCCTTC	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding		1714		chr17	TogoVar
PADI4_chr1_17303197_17369004	17351984	G G	GGTGGGAA others(95): Show GGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCG GCCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGG GAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0137 a0001c0005t0001g0137	1	372	0.0027	102	c.115 others(121): Show c.1156-2548_1156-2547insTGGGAAGAGAGGCAGTCAGGGAGGTG ATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGGTGATGGGAGGAGAGGCAG TCAGGGAGGTGATGGGAGGTGGGAAG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352114	T T	TGTGGTCA others(95): Show TGTGGTCAGAGAGGTGATGGGAGGCAGTAGGAGAGGCAATCAGGGAGGTG ATGAGAGGTGGTAGGAGAGGCGGTCAGGGAGGAGATGGGAGGTGGTAAGA GGG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	372	0.0027	102	c.115 others(121): Show c.1156-2410_1156-2309dupAGAGGTGATGGGAGGCAGTAGGAGAG GCAATCAGGGAGGTGATGAGAGGTGGTAGGAGAGGCGGTCAGGGAGGAGA TGGGAGGTGGTAAGAGGGGTGGTCAG	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17352194	G G	GGAGATGG others(95): Show GGAGATGGGAGGTGGTAAGAGGGGTGGTCAGGGAAGAGATGGGAGGTGGT AAGAGGGGTGGTCAGGGAAGAGATGGGAGGTGGTAAGAGGGGTGGTCAGG GAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0002 a0018c0024t0002	a0018c0024t0002g0199 a0018c0024t0002g0199	1	372	0.0027	102	c.115 others(121): Show c.1156-2289_1156-2288insAGAGGGGTGGTCAGGGAAGAGATGGG AGGTGGTAAGAGGGGTGGTCAGGGAAGAGATGGGAGGTGGTAAGAGGGGT GGTCAGGGAAGAGATGGGAGGTGGTA	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAIP2B_chr2_71177738_71232103	71203360	T T	TAATTATT others(95): Show TAATTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGTTCCACAAATATTTATTGAGCACTCCATGAACCAGACTATTCATAA GGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01928.hp2 HG01975.hp2 others(1): Show HG01074.hp1 HG01928.hp2 HG01975.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0071	4	378	0.0106	102	c.-11 others(117): Show c.-11-761_-11-760insGCCTTATGAATAGTCTGGTTCATGGAGTGC TCAATAAATATTTGTGGAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAATAATT	PAIP2B	ENSG00000124374.9	transcript	ENST00000244221.9	protein_coding	1/3			chr2	TogoVar
PAK2_chr3_196734857_196837647	196811324	T T	TTTCCTTC others(95): Show TTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCT TTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTT TCC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0068 a0001c0001t0008g0068	1	178	0.0056	102	c.773 others(117): Show c.773+672_773+673insTCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTT CCCTTCCTTTCCTTCCTTTCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811326	C C	CCTTCCCT others(95): Show CCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTTCCCTTCCTTCCCTT CCTTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCC CTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0005 a0001c0001t0031	a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0031g0050 a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0031g0050	3	178	0.0169	102	c.773 others(117): Show c.773+674_773+675insTTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCTTCCCTCCCTTC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALS1_chr14_67236435_67341061	67302828	C C	CTCAGTAC others(95): Show CTCAGTACATATTTATTGAGTGCCTAATATGCACTAGCCACTTGGGAAAC AGTAACAAAACAAAGTCTGTGTCCTGATGATTTTTTGTGTTCTTTTATTT TAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	290	0.0035	102	c.963 others(117): Show c.963+259_963+360dupCAGTACATATTTATTGAGTGCCTAATATGC ACTAGCCACTTGGGAAACAGTAACAAAACAAAGTCTGTGTCCTGATGATT TTTTGTGTTCTTTTATTTTATT	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(95): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATAGATAGATATATATATATA TATATATATATATATATATATATATATATATATACAGTAACTTTTAAAAA GTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	408	0.0025	102	c.181 others(119): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TAGATAGATATATATATATATATATATATATATATATATATATATATATA TATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(95): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATAGATATAGATATATATATA TATATATATATATATATATATATATATATATATACAGTAACTTTTAAAAA GTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0122 a0001c0001t0009g0122	1	408	0.0025	102	c.181 others(119): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TAGATATAGATATATATATATATATATATATATATATATATATATATATA TATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(95): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATAGATATATATATATATATA TATATATATATATATATATATATATATATATATACAGTAACTTTTAAAAA GTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00733.hp1 others(2): Show HG00099.hp1 HG00639.hp1 HG00733.hp1 HG02486.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0001t0002g0098 others(2): Show a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0125 a0001c0001t0009g0089	5	408	0.0123	102	c.181 others(119): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TAGATATATATATATATATATATATATATATATATATATATATATATATA TATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(95): Show CTATCTTGGTCTGTTTTCCCCCAGGATAGATATATATATATATATATATA TATATATATATATATATATATATATATATATATACAGTAACTTTTAAAAA GTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01099.hp2 HG01515.hp2 others(11): Show HG00609.hp2 HG01099.hp2 HG01515.hp2 HG01934.hp1 HG01981.hp1 HG02683.hp2 HG03017.hp2 HG03688.hp2 HG04199.hp1 NA18984.hp1 NA18998.hp2 NA19005.hp1 NA19076.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0004c0004t0012 a0001c0001t0001 a0001c0001t0002 a0004c0004t0012	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0103 others(9): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0103 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0002g0166 a0001c0001t0002g0168 a0004c0004t0012g0167	14	408	0.0343	102	c.181 others(119): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATAGA TATATATATATATATATATATATATATATATATATATATATATATATATA TATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(95): Show CTATCTTGGTCTGTTTTCCCCCAGGATATATATATATATATATATATATA TATATATATATATATATATATATATATATACATACAGTAACTTTTAAAAA GTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	408	0.0025	102	c.181 others(119): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATATA TATATATATATATATATATATATATATATATATATATATATATATATATA CATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(95): Show CTATCTTGGTCTGTTTTCCCCCAGGATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATACAGTAACTTTTAAAAA GTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19090.hp2 NA18973.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0198 a0001c0001t0003g0075 a0001c0001t0001g0198 a0001c0001t0003g0075	2	408	0.0049	102	c.181 others(119): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(95): Show CTATCTTGGTCTGTTTTCCCCCAGGATGGATAGATAGATATATATATATA TATATATATATATATATATATATATATATATATACAGTAACTTTTAAAAA GTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02135.hp2 HG00438.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	2	408	0.0049	102	c.181 others(119): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCAGGATGGA TAGATAGATATATATATATATATATATATATATATATATATATATATATA TATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAPLN_chr14_73232506_73279623	73263901	T T	TTGACAGG others(95): Show TTGACAGGTGTGTGTGACAGCCCCCCTACCCCCTCTGACAGGTGTGTGTG ACGGCCCCCCGACCTCCTCTGACAGGTGTGTGTGACGGCCCCCCGACCTC CTC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0307 a0002c0001t0001g0307	1	418	0.0024	102	c.286 others(119): Show c.2861+204_2861+205insGGCCCCCCGACCTCCTCTGACAGGTGTG TGTGACAGCCCCCCTACCCCCTCTGACAGGTGTGTGTGACGGCCCCCCGA CCTCCTCTGACAGGTGTGTGTGAC	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPLN_chr14_73232506_73279623	73263919	A A	AGCCCCCC others(95): Show AGCCCCCCTACCCCCTCTGACAGGTGTGTGTGACGGCCCCCCGACCTCCT CTGACAGGTGTGTGTGACGGCCCCCCTACCCCCTCTGACAGGTGTGTGTG ACG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0383 a0001c0006t0004g0383	1	418	0.0024	102	c.286 others(119): Show c.2861+204_2861+205insGGCCCCCCTACCCCCTCTGACAGGTGTG TGTGACGGCCCCCCTACCCCCTCTGACAGGTGTGTGTGACGGCCCCCCGA CCTCCTCTGACAGGTGTGTGTGAC	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARL_chr3_183824271_183889880	183882222	A A	AAAAAAAA others(95): Show AAAAAAAAAAAATATATATATAGTATATATATATATATTTATATATATAT ATATATATTTATATATATATATATTTATATATATATATTATATATTTATA TAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	358	0.0028	102	c.125 others(119): Show c.125+2499_125+2500insATATATAAATATATAATATATATATATA AATATATATATATATAAATATATATATATATATATAAATATATATATATA TACTATATATATATTTTTTTTTTT	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARL_chr3_183824271_183889880	183882222	A A	AAAAAAAA others(95): Show AAAAAAAAAATATATATATATATATATATATATTTATATATATATATATA TATTTATATATATATATATATATATATTTATATATATATATATATTTATA TAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	358	0.0028	102	c.125 others(119): Show c.125+2499_125+2500insATATATAAATATATATATATATATAAAT ATATATATATATATATATATAAATATATATATATATATATAAATATATAT ATATATATATATATATTTTTTTTT	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARVB_chr22_44019302_44177939	44112701	A A	AAAGCCCT others(95): Show AAAGCCCTGTACCAACACAGATAGATTGTTACTAAGGCCCTACACCAGAA CGGATACATTGTACATTGTAACTAAAGCCCTGCACCAACACGGACACATC GTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0041 a0001c0027t0041	a0001c0027t0041g0320 a0001c0027t0041g0320	1	332	0.0030	102	c.274 others(119): Show c.274-6336_274-6335insAGCCCTGTACCAACACAGATAGATTGTT ACTAAGGCCCTACACCAGAACGGATACATTGTACATTGTAACTAAAGCCC TGCACCAACACGGACACATCGTTA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151562850	C C	CGGTGGTC others(95): Show CGGTGGTCTGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGGCGGGGGGG GCGGGGGGGGCGGGGGGGGCGGGGGCGGGGGGGGCGGGGGGGCGGGGGGC GGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	221	0.0045	102	c.-10 others(113): Show c.-1017_-1016insGGTGGTCTGGGCGGGGGCGGGGGGGCAGCTGGGG CGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGCGGGGGGGGC GGGGGGGCGGGGGGCGGG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		824		chrX	TogoVar
PCBP3_chr21_45638725_45947450	45739334	C C	CATCTTCA others(95): Show CATCTTCATCAGCCCACCCCTTCCTGTCCATGGTCCTCTGGGTAGCCCCC CCATCTTCATCAGCCCACCCCTTCCTGTCCACGGTCCTCTGGGTAGCCCC CCT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	292	0.0034	102	c.-16 others(121): Show c.-162+3912_-162+3913insTCAGCCCACCCCTTCCTGTCCATGGT CCTCTGGGTAGCCCCCCCATCTTCATCAGCCCACCCCTTCCTGTCCACGG TCCTCTGGGTAGCCCCCCTATCTTCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCLO_chr7_82749012_83167884	83096990	A A	ATATATTA others(95): Show ATATATTATATATTATATAAATAATATATATTATATAAATAATATATTAT ATATTATATAAATAATATATTATATATTATATAAATAATATAATATAATA TAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG02897.hp1 others(3): Show HG02622.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG03471.hp2 NA20129.hp1	a0007 a0060 a0007 a0060	a0007c0008 a0007c0073 a0060c0074 a0007c0008 a0007c0073 a0060c0074	a0007c0008t0003 a0007c0073t0003 a0060c0074t0003 a0007c0008t0003 a0007c0073t0003 a0060c0074t0003	a0007c0008t0003g0119 a0007c0008t0003g0120 a0007c0008t0003g0182 others(3): Show a0007c0008t0003g0119 a0007c0008t0003g0120 a0007c0008t0003g0182 a0007c0008t0003g0184 a0007c0073t0003g0118 a0060c0074t0003g0121	6	188	0.0319	102	c.330 others(123): Show c.3300+37259_3300+37260insATATATTATATTATATTATTTATA TAATATATAATATATTATTTATATAATATATAATATATTATTTATATAAT ATATATTATTTATATAATATATAATATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCSK5_chr9_75885673_76367975	76351447	G G	GAAAGGAA others(95): Show GAAAGGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0036 a0001c0004t0007g0036	1	166	0.0060	102	c.506 others(119): Show c.5067+519_5067+520insAAAGGAAAGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37			chr9	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(95): Show GGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0346 a0001c0001t0005g0346	1	358	0.0028	102	c.143 others(117): Show c.143-497_143-496insCTGGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741338	G G	GGGGGGCT others(95): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGGCT CGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0265 a0001c0001t0092g0265	1	358	0.0028	102	c.143 others(117): Show c.143-324_143-323insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741361	C C	CGGGGGGG others(95): Show CGGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTC GCA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	358	0.0028	102	c.143 others(117): Show c.143-300_143-299insGCTGGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGCTCGCAGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGCT others(95): Show GGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTC GCA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0220 a0001c0002t0065g0220	1	358	0.0028	102	c.143 others(117): Show c.143-220_143-219insCTGGCGGGGGGCTGGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGG CTCGCGGGGGGCTCGCAGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGGC others(95): Show GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT GGC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0054 a0001c0001t0015g0054	1	358	0.0028	102	c.143 others(117): Show c.143-208_143-207insGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTGGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741465	G G	GGGGGGGC others(95): Show GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC GCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0234 a0001c0001t0004g0234	1	358	0.0028	102	c.143 others(117): Show c.143-197_143-196insGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGCTCGCAGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743257	C C	CTCCCCCC others(95): Show CTCCCCCCAGCTCCCGAGCACTGTGGGGACACCTCGCCTGCACCCACCTC CTTCCCCCCAGCTCCCGAGCACTGTGGGGACACCTCGCCTGCACCCACCT CCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0089 a0001c0001t0086g0089	1	358	0.0028	102	c.248 others(117): Show c.248-434_248-333dupTCGCCTGCACCCACCTCCTTCCCCCCAGCT CCCGAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCTTCCCCCCAGC TCCCGAGCACTGTGGGGACACC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743497	T T	TTGCACCC others(95): Show TTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTCG CCTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTC GCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02559.hp2 HG02809.hp2 others(3): Show HG00733.hp1 HG02559.hp2 HG02809.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0055 a0001c0001t0002 a0001c0001t0004 a0001c0001t0055	a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0059 others(3): Show a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0059 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0055g0216	6	358	0.0168	102	c.248 others(117): Show c.248-155_248-154insAGCCCCTGAGCACTGTGGGGACACCTCGCC TGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTCGC CTGCACCCACCTCCCTCCCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743519	A A	AGCCCCCG others(95): Show AGCCCCCGAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCC CAGCCCCTGAGCACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCC CCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0066 a0001c0005t0066	a0001c0005t0066g0224 a0001c0005t0066g0224	1	358	0.0028	102	c.248 others(117): Show c.248-200_248-199insCGAGCACTGTGGGGACACCTCGCCTGCACC CACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTCGCCTGCAC CCACCTCCCTCCCCCCTGCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)