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
DEPDC1B_chr5_60591912_60705166	60667890	A A	AAATGGAT others(199): Show AAATGGATATTTTATATATAAAATGGATATTTTATATATATAAAATGGAT ATTTTATATATATAAAATGGATATTTTATATATATATAAAATGGATATTT TATATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTTA TATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTTATA TATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	292	0.0034	206	c.314 others(225): Show c.314+19071_314+19072insATATATATATAAAATATCCATTTTAT ATATATATAAAATATCCATTTTATATATATATAAAATATCCATTTTATAT ATATATAAAATATCCATTTTATATATATATAAAATATCCATTTTATATAT ATATAAAATATCCATTTTATATATATAAAATATCCATTTTATATATATAA AATATCCATTTTATATATAAAATATCCATT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668061	T T	TTATATAT others(199): Show TTATATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTT ATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATATT TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	292	0.0034	206	c.314 others(225): Show c.314+18900_314+18901insTAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATA TATATAAAATATCCATTTTATATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(199): Show TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	284	0.0035	206	c.101 others(225): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLGAP2_chr8_732628_1713476	1350588	C C	CTGTGCGT others(199): Show CTGTGCGTGGAAAGGCCGTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTG CGGGTCCTGACTGTGTGTGGAAAGGCCGTGCGGGTCCTGACTGTGTGTGG AAAGGACGTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTCCTGA CTGTGGAAAGGCCGTGCGGGTCCTGACTGTGCGTGGAAAGGCCGTGCGGG TCCTGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG00639.hp1 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0023 a0001c0002t0001 a0001c0002t0023	a0001c0002t0001g0019 a0001c0002t0023g0005 a0001c0002t0001g0019 a0001c0002t0023g0005	2	40	0.0500	206	c.106 others(225): Show c.106+91722_106+91723insTGCGGGTCCTGAGTGTGCGTGGAAAG GCCGTGCGGGTCCTGACTGTGTGTGGAAAGGCCGTGCGGGTCCTGACTGT GTGTGGAAAGGACGTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGG TCCTGACTGTGGAAAGGCCGTGCGGGTCCTGACTGTGCGTGGAAAGGCCG TGCGGGTCCTGAGTGTGCGTGGAAAGGCCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(199): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGA AAGAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0044 a0008c0010t0001g0044	1	126	0.0079	206	c.199 others(225): Show c.1993-9591_1993-9590insCTTTCTTTCTTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33010062	A A	ATGTACAC others(199): Show ATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGT GTATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACAT GTGTATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCAC ATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGC ACATGTG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0097 a0001c0002t0013g0097	1	126	0.0079	206	c.93+ others(223): Show c.93+10076_93+10077insCACATGTGCACACACATGTGTACATACA CATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTACATA CACATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTACA TACACATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTA CATACACATGTGCACACACATGTGTACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAH17_chr17_78418697_78582396	78478154	C C	CCATTATC others(199): Show CCATTATCACCATCATATCACCACCACCATCACTATCATAACTATCACCA CCACCATCATCACCACCATCATCACCACCATCACCATTATCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCATCATTATCTCCACCATCACCACCACGTGGCATCATCACATCACCA TCATCAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19240.hp2 NA20129.hp2 HG03516.hp2 NA19240.hp2 NA20129.hp2	a0001 a0024 a0132 a0001 a0024 a0132	a0001c0113 a0024c0018 a0132c0224 a0001c0113 a0024c0018 a0132c0224	a0001c0113t0001 a0024c0018t0001 a0132c0224t0001 a0001c0113t0001 a0024c0018t0001 a0132c0224t0001	a0001c0113t0001g0098 a0024c0018t0001g0012 a0132c0224t0001g0120 a0001c0113t0001g0098 a0024c0018t0001g0012 a0132c0224t0001g0120	3	252	0.0119	206	c.799 others(223): Show c.7992+870_7992+871insATGATGATGGTGATGTGATGATGCCACG TGGTGGTGATGGTGGAGATAATGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATAATGGTGAT GGTGGTGATGATGGTGGTGATGATGGTGGTGGTGATAGTTATGATAGTGA TGGTGGTGGTGATATGATGGTGATAATG	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541043	G G	GGGGTGGG others(199): Show GGGGTGGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGA GCGGGGTGGGGGGGTGAGCGGGGTGCGGGGGTGAGCGGGGTGCGGGGGTG AGCGGTGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGG TGAGCGGGGTGGGGGGATGAGCAGGTGGGGGGGTGAGGCGGGGTGGGGGG ATGAGCA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0002 a0013c0012t0002	a0013c0012t0002g0222 a0013c0012t0002g0222	1	252	0.0040	206	c.253 others(225): Show c.2533-1164_2533-1163insTGCTCATCCCCCCACCCCGCCTCACC CCCCCACCTGCTCATCCCCCCACCCCGCTCACCCCCCCACCCCGCTCACC CCCCCACCCCGCTCACCCCCCCACCACCGCTCACCCCCGCACCCCGCTCA CCCCCGCACCCCGCTCACCCCCCCACCCCGCTCACCCCCCCACCCCGCTC ACCCCCCCACCCCGCTCACCCCCCCCACCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(199): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATGATATATATATCCCATATATATGATATATATATGATATATATATC CCATATATATGATATATATATGATATATATATGGGATATATATATCATAT ATATATCATATATATGGGATATATATATCATATATATATGGGATATATAT ATCATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0265	1	336	0.0030	206	c.22- others(223): Show c.22-13175_22-13174insATATGATATATATATCCCATATATATAT GATATATATATCCCATATATATGATATATATATGATATATATATCCCATA TATATATCATATATATATCATATATATGGGATATATATATCATATATATA TCATATATATGGGATATATATATCATATATATATCATATATATATCATAT ATATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(199): Show GATATATATATGATATATATATGATATATATATCCCATATATATGATATA TATATGATATATATATCCCATATATATGATATATATATGATATATATATC CCATATATATGATATATATATGATATATATATGGGATATATATATCATAT ATATATCATATATATGGGATATATATATCATATATATATGGGATATATAT ATCATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0305 a0002c0002t0001g0305	1	336	0.0030	206	c.22- others(223): Show c.22-13175_22-13174insATATGATATATATATCCCATATATATAT GATATATATATCCCATATATATGATATATATATGATATATATATCCCATA TATATATCATATATATATCATATATATGGGATATATATATCATATATATA TCATATATATGGGATATATATATCATATATATATCATATATATGGGATAT ATATATCATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DOCK10_chr2_224760090_225047468	225018621	T T	TTATATAT others(199): Show TTATATATATAATATATATGTAATATTACATATATATATAATATATATGT AATATTATATATATAATATATATGTAATATTATATATATATAATATATAT GTAATATTATATATATAATATATATGTAATATTATATATATAATATATAT GTAATATTATATATATAATATATGTAATATTATATATATAATATATATGT AATATTA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0073 a0002c0007t0003g0073	1	172	0.0058	206	c.123 others(225): Show c.123+23630_123+23631insTAATATTACATATATATTATATATAT AATATTACATATATTATATATATAATATTACATATATATTATATATATAA TATTACATATATATTATATATATAATATTACATATATATTATATATATAT AATATTACATATATATTATATATATAATATTACATATATATTATATATAT ATGTAATATTACATATATATTATATATATA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK4_chr7_111721110_112211399	111838187	T T	TAGAAATT others(199): Show TAGAAATTGAAAGGCTGAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG AGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	106	0.0094	206	c.273 others(225): Show c.2737-3502_2737-3501insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCTCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTCAGCCTTTCAATTTCT	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	25/52			chr7	TogoVar
DOP1A_chr6_83062671_83173471	83145181	G G	GTATATAT others(199): Show GTATATATATATAATATATATATAATATATATAATATGTATTATATATAT AATATGTAATATATATAATATGTATTATAATATATATATAATATATAATA TATAATATATATATAATAAATATATATAATATATATATAATATATATATT TAAAAGTATATATATATATATAATATATATATATATAATATATATATATA TAATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0248 a0003c0003t0001g0248	1	298	0.0034	206	c.554 others(223): Show c.5542-333_5542-332insTAATATATATATAATATATATAATATGT ATTATATATATAATATGTAATATATATAATATGTATTATAATATATATAT AATATATAATATATAATATATATATAATAAATATATATAATATATATATA ATATATATATTTAAAAGTATATATATATATATAATATATATATATATAAT ATATATATATATAATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619681	A A	AGCTCCAT others(199): Show AGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCACTCCCTTCACCCCCTCCCTGCAGCCTGCTGTGCCCCC TGCTCCCCTCCCTGCAGCGCCCTGGTCCCCCTGCTCCCCCCGCTCCCCTC CCTGCAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	250	0.0040	206	c.-10 others(225): Show c.-107+5962_-107+5963insGCTCCATGCCCCCCCTGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCACTCCCTTCACCCCC TCCCTGCAGCCTGCTGTGCCCCCTGCTCCCCTCCCTGCAGCGCCCTGGTC CCCCTGCTCCCCCCGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPH7_chr9_137549444_137583925	137567168	T T	TCTGTCTG others(199): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAG GGAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTC TGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02630.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0028 a0001c0001t0003g0029	2	340	0.0059	206	c.641 others(223): Show c.641-2015_641-2014insTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCCGGGGAGCTTCCTCACGGACAGAGTCACCCCGGGGAGCTTCC TCACGGACAGAGTCACCCAGGGGAGCTCCCTCACGGACAGAGTCACCCCG GGGAGCTTCCTCACGGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAG TCACCCAGGGGAGCTTCCTCACAGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567636	A A	ACTCTGTC others(199): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCTG GGTGACT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	340	0.0029	206	c.641 others(223): Show c.641-2483_641-2482insAGTCACCCAGGGGAGCTTCCTCACGGAC AGAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCC TCACAGACAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGG GAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGTC ACCCAGGGGAGCTTCCTCACAGACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114213	A A	ACCCCCGC others(199): Show ACCCCCGCCCGCGACCCCGCCCGGCACCCACGTGCCCCGCGACCCCCGCC CGCGACCCCGCCCGGCACCCACGTGCCCCGCGACCCCCGCCCGCGACCCC GCCCGGCACCCGCGTGCCCCGCGACCCCCGCCCGCGACCCCGCCCGGCAC CCACGTGCCCCGCGACCCCCGCCCGCGACCCCGCCCGGCACCCACGTGCC CCGCGAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG01891.hp1 HG02280.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0001 a0000c0005t0001	a0000c0005t0001g0107 a0000c0005t0001g0108 a0000c0005t0001g0107 a0000c0005t0001g0108	2	454	0.0044	206	c.321 others(219): Show c.321+29_321+30insGTCGCGGGGCACGTGGGTGCCGGGCGGGGTCG CGGGCGGGGGTCGCGGGGCACGTGGGTGCCGGGCGGGGTCGCGGGCGGGG GTCGCGGGGCACGCGGGTGCCGGGCGGGGTCGCGGGCGGGGGTCGCGGGG CACGTGGGTGCCGGGCGGGGTCGCGGGCGGGGGTCGCGGGGCACGTGGGT GCCGGGCGGGGTCGCGGGCGGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137114213	A A	ACCCCCGC others(199): Show ACCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGCGACCCCCGCC CGCGACCCCGCCCGGCACCCGCGTGCCCCGCGACCCCCGCCCGCGACCCC GCCCGGCACCCGCGTGCCCCGCGACCCCCGCCCGCGACCCCGCCCGGCAC CCGCGTGCCCCGCGACCCCCGCCCGCGACCCCGCCCGGCACCCACGTGCC CCGCGAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0086 a0001c0006t0001g0086	1	454	0.0022	206	c.321 others(219): Show c.321+29_321+30insGTCGCGGGGCACGTGGGTGCCGGGCGGGGTCG CGGGCGGGGGTCGCGGGGCACGCGGGTGCCGGGCGGGGTCGCGGGCGGGG GTCGCGGGGCACGCGGGTGCCGGGCGGGGTCGCGGGCGGGGGTCGCGGGG CACGCGGGTGCCGGGCGGGGTCGCGGGCGGGGGTCGCGGGGCACGCGGGT GCCGGGCGGGGTCGCGGGCGGGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DVL1_chr1_1330278_1354418	1351134	C C	CGGGGGGG others(199): Show CGGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGGA GTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGGAGTGAGGAGG GGGCCTGGACGGGGCAGGAGCGACGGGGGGGAGTGAGGAGGGGGCCTGGA CGGGGCAGGAGCGACGGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGG AGCGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0010 a0001c0003t0003g0010	1	344	0.0029	206	c.-20 others(217): Show c.-2070_-2069insCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCAC TCCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCCG TCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCCGTCGCTCCTG CCCCGTCCAGGCCCCCTCCTCACTCCCCCCCGTCGCTCCTGCCCCGTCCA GGCCCCCTCCTCACTCCCCCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1717		chr1	TogoVar
EPHX2_chr8_27486143_27550564	27501389	T T	TCTCCTTC others(199): Show TCTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTC TTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCT TCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTT CCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTC CTTCTTC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	374	0.0027	206	c.186 others(221): Show c.186+381_186+382insCCTTCTTCCTTCTTCCTTCTTCCTTCTTCC TTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCT TCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTT CTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTC TTCCTTCTTCCTTCTTCCTTCTTCCT	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAF2_chr5_176443385_176515074	176451811	C C	CACATATA others(199): Show CACATATATATATACATATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATATACATATATA TATACACATATATATATACATATATATATACACATATATATATACATATA TATATACACATATATATATACATATATATATACACATATATATATACATA TATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA19070.hp2 HG01257.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0175 a0001c0001t0001g0176	2	372	0.0054	206	c.63+ others(221): Show c.63+3344_63+3345insTATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA CATATATATATACATATATATATACA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER1L5_chr2_96637764_96709883	96659346	C C	CTTTCTTT others(199): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0130 a0008c0008t0001g0130	1	226	0.0044	206	c.748 others(221): Show c.748-993_748-992insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FGD6_chr12_95071749_95222467	95195689	T T	TCACGCCT others(199): Show TCACGCCTGTAAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACC TGAGGTCGGGAGTTCGAGACCAGACCTGGCCATGTTGGCCATGTTGGCCG TGTTGGCCATGTTGGCCATGTTGGCCAGGTCTGGTCTCGAACTCCCGACC TCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00609.hp1 others(46): Show HG00323.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02165.hp1 HG02735.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18968.hp1 NA18971.hp1 NA18980.hp2 NA18982.hp2 NA18985.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19088.hp2 NA19090.hp1 NA20752.hp2 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0010	a0001c0001 a0003c0004 a0004c0008 others(2): Show a0001c0001 a0003c0004 a0004c0008 a0005c0017 a0010c0021	a0001c0001t0010 a0001c0001t0033 a0001c0001t0037 others(9): Show a0001c0001t0010 a0001c0001t0033 a0001c0001t0037 a0001c0001t0076 a0003c0004t0004 a0003c0004t0014 a0003c0004t0034 a0003c0004t0075 a0004c0008t0004 a0004c0008t0014 a0005c0017t0004 a0010c0021t0004	a0001c0001t0010g0322 a0001c0001t0010g0323 a0001c0001t0010g0325 others(46): Show a0001c0001t0010g0322 a0001c0001t0010g0323 a0001c0001t0010g0325 a0001c0001t0010g0326 a0001c0001t0010g0328 a0001c0001t0010g0329 a0001c0001t0010g0330 a0001c0001t0010g0331 a0001c0001t0010g0356 a0001c0001t0033g0315 a0001c0001t0033g0316 a0001c0001t0037g0321 a0001c0001t0076g0324 a0003c0004t0004g0333 a0003c0004t0004g0334 a0003c0004t0004g0335 a0003c0004t0004g0336 a0003c0004t0004g0337 a0003c0004t0004g0338 a0003c0004t0004g0339 a0003c0004t0004g0340 a0003c0004t0004g0341 a0003c0004t0004g0342 a0003c0004t0004g0343 a0003c0004t0004g0344 a0003c0004t0004g0345 a0003c0004t0004g0346 a0003c0004t0004g0347 a0003c0004t0004g0349 a0003c0004t0004g0352 a0003c0004t0004g0353 a0003c0004t0004g0365 a0003c0004t0004g0366 a0003c0004t0004g0367 a0003c0004t0004g0368 a0003c0004t0004g0369 a0003c0004t0014g0348 a0003c0004t0014g0370 a0003c0004t0034g0351 a0003c0004t0034g0355 a0003c0004t0075g0350 a0004c0008t0004g0358 a0004c0008t0004g0361 a0004c0008t0014g0357 a0004c0008t0014g0359 a0004c0008t0014g0360 a0005c0017t0004g0362 a0005c0017t0004g0363 a0010c0021t0004g0332	49	384	0.1276	206	c.244 others(227): Show c.2441+13153_2441+13154insGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGAC CAGACCTGGCCAACATGGCCAACATGGCCAACACGGCCAACATGGCCAAC ATGGCCAGGTCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCGCCTC AGCCTCCCAAAGTGCTGGGATTTACAGGCGTG	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	2/20			chr12	TogoVar
FGFRL1_chr4_1006626_1031898	1026155	A A	ACACACAC others(199): Show ACACACACATGTGCACAGATATGCTGTCTGGACATGCACACACGTGCAGA TATGCTGTCCGGATACACACGCACGCACACATGCAGATATGCTGCCTGGG CACACACTTCCGGACACACATGCACACACAGGTGCAGATATGCTGCCTGG ACACACACACAGATAATGCTGCCTCAACACTCACACACGTGCAGATATTG CCTGGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0003 a0001c0002t0039g0003	1	414	0.0024	206	c.96 others(215): Show c.963_*964insACACAGATAATGCTGCCTCAACACTCACACACGTGC AGATATTGCCTGGACCACACACATGTGCACAGATATGCTGTCTGGACATG CACACACGTGCAGATATGCTGTCCGGATACACACGCACGCACACATGCAG ATATGCTGCCTGGGCACACACTTCCGGACACACATGCACACACAGGTGCA GATATGCTGCCTGGACACAC	FGFRL1	ENSG00000127418.15	transcript	ENST00000510644.6	protein_coding	7/7	964	INFO_REALIGN_3_PRIME	chr4	TogoVar
FLT3_chr13_27998274_28105576	27998863	T T	TATATTTA others(199): Show TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATGCATATAAATATATATATTTATATGCATATAAATATATATATT TATATACATATAAATATATATATTTATATATAAATATATATATTTATATA CATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	292	0.0034	206	c.51 others(217): Show c.5188_*5189insTTATATGTATATAAATATATATATTTATATATAA ATATATATATTTATATGTATATAAATATATATATTTATATGCATATAAAT ATATATATTTATATGCATATAAATATATATATTTATATGTATATAAATAT ATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4410		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71396955	T T	TATATATA others(199): Show TATATATATACACACATATATATGTGTGTATATATATATATACACATATA TATATGTGTGTATATATATATACACATATATATGTGTATATATATATACA TATATATGTGTATATATACACACATATATATATGTGTATATATACACACA TATATATATGTGTATATATATATACACACATATATATATGTGTATATATA TATACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0039 a0001c0001t0008g0039	1	96	0.0104	206	c.-16 others(227): Show c.-167-37712_-167-37711insGTGTATATATATATACACATATAT ATATGTGTGTATATATATATACACATATATATATGTGTGTATATATACAC ATATATATATGTGTGTATATATACACATATATATGTATATATATATACAC ATATATATGTGTATATATATATACACACATATATATATGTGTATATATAT ATATACACACATATATATGTGTGTATATATAT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GMEB2_chr20_63582605_63632101	63607849	C C	CACCTCCA others(199): Show CACCTCCATTTCCAGAAACATGCCCCTCTGACCCCACACATCCATTTCTA GAAACATGTCCCTCTGACTCACCTCCATTTCTAGAAACGTGCCACTCTGA CCCCACACATCCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTC CAGAAACATGCCCCTCTGACCCCACACATCCATTTCTAGAAACATGTCCC TCTGACT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG02280.hp1 others(11): Show HG01496.hp2 HG02055.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02886.hp2 HG03041.hp1 HG03130.hp2 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03710.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0018 a0001c0004t0019 a0001c0004t0004 a0001c0004t0018 a0001c0004t0019	a0001c0004t0004g0045 a0001c0004t0004g0046 a0001c0004t0004g0080 others(11): Show a0001c0004t0004g0045 a0001c0004t0004g0046 a0001c0004t0004g0080 a0001c0004t0004g0086 a0001c0004t0004g0087 a0001c0004t0004g0088 a0001c0004t0004g0090 a0001c0004t0004g0093 a0001c0004t0004g0094 a0001c0004t0004g0095 a0001c0004t0004g0098 a0001c0004t0004g0099 a0001c0004t0018g0092 a0001c0004t0019g0081	14	330	0.0424	206	c.132 others(223): Show c.132-3010_132-3009insAGTCAGAGGGACATGTTTCTAGAAATGG ATGTGTGGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGG GGCATGTTTCTAGAAATGGATGTGTGGGGTCAGAGTGGCACGTTTCTAGA AATGGAGGTGAGTCAGAGGGACATGTTTCTAGAAATGGATGTGTGGGGTC AGAGGGGCATGTTTCTGGAAATGGAGGT	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GPC5_chr13_91393621_92872237	92347920	T T	TATTATAT others(199): Show TATTATATATAATATATATATTATATATATAATATATAATATATATAATA TATATAATATATATAATATATATATTATATATAATATATAATATATATAT TATATATAATATATAATATATATATTATATATATTATATATAATATATAT AATATATATATTATATATATATTATATATTATATATAATATATATAATAT ATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0026 a0002c0002t0004g0026	1	42	0.0238	206	c.156 others(229): Show c.1561+202933_1561+202934insTATATATAATATATATATTATA TATATAATATATAATATATATAATATATATAATATATATAATATATATAT TATATATAATATATAATATATATATTATATATAATATATAATATATATAT TATATATATTATATATAATATATATAATATATATATTATATATATATTAT ATATTATATATAATATATATAATATATATATAAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR35_chr2_240620480_240638159	240625870	T T	TGGGGTGA others(199): Show TGGGGTGAGACTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGT TCTCAGAGCAGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTG TGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGCGG GGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTC TCAGAGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0082 a0009c0013t0002g0082	1	400	0.0025	206	c.-5+ others(219): Show c.-5+310_-5+311insACTCTGATGGGGTCTCAGAGCGGGGTGAGGCT GTGATGGGTTCTCAGAGCAGGGTGAGGCTGTGATGGGGTCTCAGAGTGGG GTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTC TCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTGTG ATGGGGGTCTCAGAGAGGGGTGAG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAT others(199): Show ACACACATATATATTATATATATATTATATATATATATTATATATATATT ATATATATATTATATATATATATTATATATATATTATATATATATTATAT ATATATATTATATATATATTATATATATATATTATATATATATTATATAT ATATTATATATATATTATATATATATTATATATATAATATATATATAATA TATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	184	0.0054	206	c.912 others(225): Show c.912-34128_912-34127insATATATATATTATATATATATTATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATAA TATATATATATAATATATATATAATATATATATATAATATATATATAATA TATATATAATATATATATATAATATATATATAATATATATATAATATATA TATATAATATATATATAATATATATGTGTG	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRTP1_chr13_113319163_113369130	113347263	T T	TGAGCGGA others(199): Show TGAGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACC TCTGTGGCCGAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACC CGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTC TGAAGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(61): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp1 HG01361.hp2 HG01952.hp2 HG02004.hp2 HG02015.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02300.hp1 HG02602.hp1 HG02735.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18992.hp2 NA18995.hp2 NA19009.hp1 NA19010.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0013	a0001c0001 a0003c0004 a0004c0003 others(1): Show a0001c0001 a0003c0004 a0004c0003 a0013c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0003c0004t0001 a0004c0003t0001 a0004c0003t0002 a0013c0013t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 others(61): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0117 a0001c0001t0003g0136 a0001c0001t0003g0158 a0001c0001t0003g0164 a0001c0001t0003g0171 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0008g0286 a0003c0004t0001g0062 a0003c0004t0001g0132 a0004c0003t0001g0005 a0004c0003t0002g0003 a0004c0003t0002g0004 a0013c0013t0001g0052	64	288	0.2222	206	c.466 others(223): Show c.466-2305_466-2304insGGCTTCAGAGGTCCTCCCGGATCTGTTC TTGGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAGAG GTCCTCCCGGATCTGTTCTCGGCCACAGAGGTCCTCCCGGGTCTGTTCTC AGCCACAGAGGTCCTCCCAGATCCGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347263	T T	TGAGCGGA others(199): Show TGAGCGGATCTGGGAGGACCTTTGTGGCTGAGAACAGACCCGGGAGGACC TCTGTGGCCGAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACC CGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTC TGAAGCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	288	0.0035	206	c.466 others(223): Show c.466-2305_466-2304insGGCTTCAGAGGTCCTCCCGGATCTGTTC TTGGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAGAG GTCCTCCCGGATCTGTTCTCGGCCACAGAGGTCCTCCCGGGTCTGTTCTC AGCCACAAAGGTCCTCCCAGATCCGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(199): Show TTATAATTAATAATAACATGTAATTAATTATAAATTTATAATTAATAATA ACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTAATTA TAAATTAATAATTAATAATAACATGTAATTAATTATAAATTAATAATTAA TAATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATT AATTATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp2 HG02896.hp1 others(3): Show HG01891.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 NA19030.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0131 a0001c0001t0001g0208 a0001c0001t0001g0209 others(2): Show a0001c0001t0001g0131 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0223 a0003c0003t0001g0045	6	398	0.0151	206	c.38- others(221): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTATTA ATTATTAATTTATAATTAATTACATGTTATTATTAATTATAAATTTATAA TTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
HMGB4_chr1_33859079_33869791	33864929	A A	AGGAGAAG others(199): Show AGGAGAAGGGAAGGGAGGGGAAGGGAGGGAGAAGGAGTGGGATGGAGGGA GAGAAGGGGGAGGAGGGGGAGGGAGAGGATGGGGAGAGTGAGGAGGGGAG GGGAGGGGAGGGAGAGGAGGGGAAGGGAGGGAGAGGAGGGGGAGAGAGGG GAAGGGAGGGAGAGGAGGGGGGAGAGAGGGGAAGGGAGGGAGGGGAGGGG GAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	402	0.0025	206	c.17 others(215): Show c.177_*178insGGAGAAGGGAAGGGAGGGGAAGGGAGGGAGAAGGAG TGGGATGGAGGGAGAGAAGGGGGAGGAGGGGGAGGGAGAGGATGGGGAGA GTGAGGAGGGGAGGGGAGGGGAGGGAGAGGAGGGGAAGGGAGGGAGAGGA GGGGGAGAGAGGGGAAGGGAGGGAGAGGAGGGGGGAGAGAGGGGAAGGGA GGGAGGGGAGGGGGAGGGAG	HMGB4	ENSG00000176256.11	transcript	ENST00000681531.1	protein_coding		139		chr1	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307546	A A	AATATATA others(199): Show AATATATATATTTTATATTATATATATTATATATAATATATATATTTTAT ATTATATATATTATATATAATATATATATTTTATATTATATATATTATAT ATAATATATATATTTTATATTATATATATTATATATAATATATATATTTT ATATTATATATATTATATATAATATATATATTTTATATTATATATATTAT ATATAAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	141	0.0071	206	c.697 others(225): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IMPA1_chr8_81651914_81691325	81684560	A A	ATGTGTAG others(199): Show ATGTGTAGTATATATACTACACATAAGTATCTTTAGATACTTATGTGTAG TATATATACTACACATAAGTATCTTTAGATACTTATGTGTAGTATATATA CTACACATAAGTATCTTTAGATACTTATGTGTAGTATATATACTACACAT AGTATCTTTAGATACTATGTGTAGTATATATACTACACATAAGTATCTTT AGATACT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0087 a0001c0001t0009g0087	1	380	0.0026	206	c.-25 others(223): Show c.-25+1691_-25+1692insAGTATCTAAAGATACTTATGTGTAGTAT ATATACTACACATAGTATCTAAAGATACTATGTGTAGTATATATACTACA CATAAGTATCTAAAGATACTTATGTGTAGTATATATACTACACATAAGTA TCTAAAGATACTTATGTGTAGTATATATACTACACATAAGTATCTAAAGA TACTTATGTGTAGTATATATACTACACA	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
INPP5D_chr2_233055342_233212903	233137886	A A	ACACATAT others(199): Show ACACATATATATGTGTATATATATATATACATATATGTGTATATATATAT ATACACATATATGTGTATATATATACACATATATATGTATATATATATAC ACATATATGTGTATATATATACACATATATATGTATATATATATACACAT ATATGTGTATATATATACACATATATATGTATATATATATACACATATAT ATATGTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18943.hp2 NA19011.hp2 others(1): Show HG01975.hp1 NA18943.hp2 NA19011.hp2 NA20905.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0002 a0001c0006t0001 a0001c0006t0002	a0001c0006t0001g0126 a0001c0006t0001g0142 a0001c0006t0002g0156 others(1): Show a0001c0006t0001g0126 a0001c0006t0001g0142 a0001c0006t0002g0156 a0001c0006t0002g0157	4	310	0.0129	206	c.666 others(223): Show c.666-1956_666-1955insCACATATATATGTGTATATATATATATA CATATATGTGTATATATATATATACACATATATGTGTATATATATACACA TATATATGTATATATATATACACATATATGTGTATATATATACACATATA TATGTATATATATATACACATATATGTGTATATATATACACATATATATG TATATATATATACACATATATATATGTG	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	5/26			chr2	TogoVar
INPP5D_chr2_233055342_233212903	233137886	A A	ATACACAT others(199): Show ATACACATATATATGTGTATATATATATATACATATATGTGTATATATAT ATACACATATATGTGTATATATATACACATATATATGTATATATATATAC ACATATATGTGTATATATATACACATATATATGTATATATATATACACAT ATATGTGTATATATATACACATATATATGTATATATATATACACATATAT ATATGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 homoSapiens_chm13v2.hp1 HG01168.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0096 a0001c0004t0002g0183 a0001c0004t0001g0096 a0001c0004t0002g0183	2	310	0.0065	206	c.666 others(223): Show c.666-1954_666-1953insCACATATATATGTGTATATATATATATA CATATATGTGTATATATATATACACATATATGTGTATATATATACACATA TATATGTATATATATATACACATATATGTGTATATATATACACATATATA TGTATATATATATACACATATATGTGTATATATATACACATATATATGTA TATATATATACACATATATATATGTGTA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
IPO7_chr11_9379652_9453127	9397329	A A	ACAAAAAA others(199): Show ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	314	0.0032	206	c.85- others(221): Show c.85-5961_85-5960insCAAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAATAT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24			chr11	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(199): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT ATATGAAATATATATATGATATATATATGAAATATATATATGATATATAT ATGAAAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	344	0.0029	206	c.25- others(221): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATATATGAAATATATATATGATATATATATGAAATATATAT ATGATATATATATGAAATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(199): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG02965.hp1 others(4): Show HG01081.hp2 HG01346.hp1 HG02965.hp1 HG02976.hp1 HG03654.hp1 NA18951.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0022 a0001c0001t0002g0041 a0001c0001t0002g0077 others(4): Show a0001c0001t0002g0022 a0001c0001t0002g0041 a0001c0001t0002g0077 a0001c0002t0002g0008 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0020	7	426	0.0164	206	c.-86 others(215): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
JAKMIP3_chr10_132060946_132189858	132159691	T T	TGGGGGCA others(199): Show TGGGGGCATGTCTTCCTGTGTGATACTGGGGGGGCCTCTTCCTGTGTGAT GCTGGGGGGCCTCTTCCTGTGTGATGCTGCGGGGGGGTCTATTCCTGTGT CTTACTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTG TGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGT GTGATGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00639.hp2 HG00099.hp1 HG00639.hp1 HG00639.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0004c0036 a0003c0002 a0004c0036	a0003c0002t0001 a0004c0036t0001 a0003c0002t0001 a0004c0036t0001	a0003c0002t0001g0001 a0003c0002t0001g0034 a0004c0036t0001g0039 a0003c0002t0001g0001 a0003c0002t0001g0034 a0004c0036t0001g0039	3	158	0.0190	206	c.222 others(225): Show c.2221-3518_2221-3517insGGGGGCATGTCTTCCTGTGTGATACT GGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGCCTCTTCCTGTGTGATGC TGCGGGGGGGTCTATTCCTGTGTCTTACTGGGGGGGCCTCTCCCTGTGTG ATGCTGGGGAGCCTCTTCCAGTGTGATGCTGGGGGGGTCTCTTCCTGTGT GATGCTGGGGGGCCTCTCGCTGTGTGATGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160084	G G	GCCTCTCG others(199): Show GCCTCTCGCTGTGTGATGCTGGGGGGCCTCTCCCTGTGTGATGCTGGGGG GGTCTCTTCCTGTGTGATGCTGGGGGGTCTCTTCCTGTGTGATGCTGGGG GGGGGTCTCCCTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGG TGGGGGTCTACTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTGTGATG CTGGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp1 HG01884.hp2 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0009	a0002c0010t0009g0086 a0002c0010t0009g0089 a0002c0010t0009g0086 a0002c0010t0009g0089	2	158	0.0127	206	c.222 others(225): Show c.2221-3125_2221-3124insCCTCTCGCTGTGTGATGCTGGGGGGC CTCTCCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGG TCTCTTCCTGTGTGATGCTGGGGGGGGGTCTCCCTGTGTGATGCTGGGGG GGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTACTTCTATGTCTTACTGG GGGGGGCCTCTCCCTGTGTGATGCTGGGGA	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JPH2_chr20_44101590_44192188	44134139	A A	AATAAATA others(199): Show AATAAATATTTATTATAAATATATAAATATTTATTATAAATATATAAATA TTATAAATATATAAATATTTATTATAAATATATAAATATTTATTATAAAT ATATAAATATTTATTATAAATATATAAATATTTATTATAAATATATAAAT ATTTATTATAAATATATAAATATTTATTATAAATATATAAATATTTATTA TAAATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18970.hp1 NA19065.hp2 NA18961.hp1 NA18970.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0043 a0001c0001t0003g0083 a0001c0001t0015g0135 a0001c0001t0003g0043 a0001c0001t0003g0083 a0001c0001t0015g0135	3	338	0.0089	206	c.117 others(227): Show c.1170-15517_1170-15516insATATTTATAATAAATATTTATATA TTTATAATAAATATTTATATATTTATAATAAATATTTATATATTTATAAT AAATATTTATATATTTATAATAAATATTTATATATTTATAATAAATATTT ATATATTTATAATAAATATTTATATATTTATAATATTTATATATTTATAA TAAATATTTATATATTTATAATAAATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KATNIP_chr16_27545144_27785344	27713814	A A	ACATATTA others(199): Show ACATATTATATATATGTGTATATATATACACATACATATTATATATATGT GTGTGTATATATATACACACACATATTATATATATGTGTGTGTATATATA TACACATACATATTATATATATGTGTGTGTATATATATACACATACATAT TATATATATGTGTGTGTATATGTATATATACACATATTATATATGTGTGT GTGTGTG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18962.hp1 NA18950.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0067 a0002c0002t0003g0072 a0002c0002t0003g0067 a0002c0002t0003g0072	2	152	0.0132	206	c.160 others(225): Show c.1605+4894_1605+4895insCATATTATATATATGTGTATATATAT ACACATACATATTATATATATGTGTGTGTATATATATACACACACATATT ATATATATGTGTGTGTATATATATACACATACATATTATATATATGTGTG TGTATATATATACACATACATATTATATATATGTGTGTGTATATGTATAT ATACACATATTATATATGTGTGTGTGTGTG	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27			chr16	TogoVar
KCNQ2_chr20_63395208_63477655	63443418	C C	CCACCATC others(199): Show CCACCATCACCATCACCACCATCACCATCACCACCACCACCACCACCATC ACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACC ATCACCACCATCATCACCACCATCACCATCACCATCATCACCACCACCAT CACCATTATCACCACCACCACCATCACCATCACCACCATCACCACCACCA CCACCAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02015.hp1 HG02040.hp1 HG00609.hp1 HG02015.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284	3	330	0.0091	206	c.691 others(221): Show c.691-888_691-887insATGGTGGTGGTGGTGGTGATGGTGGTGATG GTGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGATGGTGAT GGTGATGGTGGTGATGATGGTGGTGATGGTGATGTGATGGTGGTGATGGT GATGGTGGTGATCATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGATGGTGGTGATGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63443418	C C	CCACCATC others(199): Show CCACCATCACCATCACCACCATCACCATCACCATCACCACCACCACCATC ACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACC ATCACCACCATCATCACCACCATCACCATCACCATCATCACCACCACCAT CACCATTACCACCACCACCACCATCACCATCACCACCATCACCACCACCA CCACCAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0028 a0001c0008t0028	a0001c0008t0028g0285 a0001c0008t0028g0285	1	330	0.0030	206	c.691 others(221): Show c.691-888_691-887insATGGTGGTGGTGGTGGTGATGGTGGTGATG GTGATGGTGGTGGTGGTGGTAATGGTGATGGTGGTGGTGATGATGGTGAT GGTGATGGTGGTGATGATGGTGGTGATGGTGATGTGATGGTGGTGATGGT GATGGTGGTGATCATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGA TGGTGATGGTGGTGATGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63443418	C C	CCACCATC others(199): Show CCACCATCACCATCACCACCATCACCATCACCATCACCACCACCACCATC ACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACC ATCACCACCATCATCACCACCATCACCATCACCATCATCACCACCACCAT CACCATTATCACCACCACCACCATCACCATCACCACCATCACCACCACCA CCACCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(55): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02738.hp1 HG03239.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18952.hp2 NA18962.hp2 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18990.hp2 NA18999.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19074.hp1 NA19081.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0001c0008 a0001c0009 others(4): Show a0001c0003 a0001c0008 a0001c0009 a0002c0006 a0002c0019 a0003c0026 a0005c0027	a0001c0003t0003 a0001c0003t0010 a0001c0003t0013 others(25): Show a0001c0003t0003 a0001c0003t0010 a0001c0003t0013 a0001c0003t0015 a0001c0003t0017 a0001c0003t0022 a0001c0003t0029 a0001c0003t0094 a0001c0003t0100 a0001c0003t0102 a0001c0003t0103 a0001c0003t0104 a0001c0003t0106 a0001c0003t0107 a0001c0003t0108 a0001c0008t0027 a0001c0008t0028 a0001c0008t0099 a0001c0009t0003 a0001c0009t0098 a0002c0006t0001 a0002c0006t0016 a0002c0006t0037 a0002c0006t0039 a0002c0006t0101 a0002c0019t0038 a0003c0026t0097 a0005c0027t0105	a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0274 others(55): Show a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0274 a0001c0003t0003g0278 a0001c0003t0003g0286 a0001c0003t0003g0288 a0001c0003t0003g0298 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0010g0178 a0001c0003t0010g0208 a0001c0003t0010g0210 a0001c0003t0010g0253 a0001c0003t0013g0292 a0001c0003t0013g0299 a0001c0003t0013g0300 a0001c0003t0013g0302 a0001c0003t0013g0303 a0001c0003t0015g0031 a0001c0003t0017g0319 a0001c0003t0017g0320 a0001c0003t0017g0321 a0001c0003t0017g0322 a0001c0003t0022g0111 a0001c0003t0029g0273 a0001c0003t0029g0307 a0001c0003t0094g0014 a0001c0003t0100g0268 a0001c0003t0102g0267 a0001c0003t0103g0301 a0001c0003t0104g0287 a0001c0003t0106g0311 a0001c0003t0107g0275 a0001c0003t0108g0263 a0001c0008t0027g0276 a0001c0008t0027g0310 a0001c0008t0027g0312 a0001c0008t0028g0277 a0001c0008t0028g0289 a0001c0008t0099g0280 a0001c0009t0003g0262 a0001c0009t0003g0281 a0001c0009t0003g0294 a0001c0009t0003g0314 a0001c0009t0003g0315 a0001c0009t0098g0261 a0002c0006t0001g0112 a0002c0006t0001g0159 a0002c0006t0016g0270 a0002c0006t0016g0318 a0002c0006t0037g0269 a0002c0006t0037g0271 a0002c0006t0039g0305 a0002c0006t0101g0308 a0002c0019t0038g0290 a0002c0019t0038g0291 a0003c0026t0097g0260 a0005c0027t0105g0293	58	330	0.1758	206	c.691 others(221): Show c.691-888_691-887insATGGTGGTGGTGGTGGTGATGGTGGTGATG GTGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGATGGTGAT GGTGATGGTGGTGATGATGGTGGTGATGGTGATGTGATGGTGGTGATGGT GATGGTGGTGATCATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGA TGGTGATGGTGGTGATGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
LGR6_chr1_202188799_202324761	202205379	C C	CACCTAAC others(199): Show CACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCT AACACATACCTCCTTCAAACACACACCTCCACACACACACACCTAACACA CACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAACACACA CACCTTCAAACACACACACACCTAACACACACCTCCTTCAAACACACACC CTCCAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0003 a0016c0019t0003	a0016c0019t0003g0021 a0016c0019t0003g0021	1	262	0.0038	206	c.212 others(225): Show c.212+11178_212+11179insACCTAACACACACCTCCTTCAAACAC ACAAACCTCCAGCACACACACCTAACACATACCTCCTTCAAACACACACC TCCACACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCA AACACACACACACCTAACACACACACCTTCAAACACACACACACCTAACA CACACCTCCTTCAAACACACACCCTCCAAA	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17			chr1	TogoVar
LHFPL3_chr7_104323603_104913561	104824184	A A	AATATATA others(199): Show AATATATATATTATATATTATATATTATATATATTATATATTATATATAT TATATTATATATTATATATATAATATATTATATATTATATATATATTATA TAATATATTATATATTATATATATTATATAATATATTATATATATAATTA TATATATTTTATATATTATATATTATATATTATATATTATATACATTATA TATAATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00621.hp2 others(11): Show HG00099.hp2 HG00323.hp2 HG00621.hp2 HG01070.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG02280.hp1 HG02280.hp2 HG02809.hp2 NA18612.hp2 NA19085.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 others(11): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0001 a0001c0001t0002g0034 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0003g0046 a0001c0001t0004g0030 a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0005g0031 a0001c0001t0007g0066	14	86	0.1628	206	c.683 others(225): Show c.683-81995_683-81994insATTATATATTATATATTATATATATT ATATATTATATATATTATATTATATATTATATATATAATATATTATATAT TATATATATATTATATAATATATTATATATTATATATATTATATAATATA TTATATATATAATTATATATATTTTATATATTATATATTATATATTATAT ATTATATACATTATATATAATTATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar

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