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
DGKD_chr2_233349494_233477098	233463507	G G	GCACGCAT others(197): Show GCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA20129.hp2 HG01934.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0112 a0001c0002t0004g0096 a0001c0002t0003g0112 a0001c0002t0004g0096	2	336	0.0060	204	c.318 others(221): Show c.3187-650_3187-649insCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTC CACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACT CCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463640	A A	ACTCCACA others(197): Show ACTCCACACATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTCCACACATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCC TCACTCCACACATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTC CTCGCTCCACGCATCTCCTCGCTCCACGCATCTCCTCGCTCCACGCATCT CCTCG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0160 a0001c0004t0014g0160	1	336	0.0030	204	c.318 others(221): Show c.3187-518_3187-517insACATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACACATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACACATCTCCTCACTCCACGCATCTCCT CACTCCACGCATCTCCTCGCTCCACGCATCTCCTCGCTCCACGCATCTCC TCGCTCCACGCATCTCCTCGCTCCAC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463643	C C	CCACGCAT others(197): Show CCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0135 a0001c0001t0042g0135	1	336	0.0030	204	c.318 others(221): Show c.3187-514_3187-513insCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTC CACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACT CCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTGCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIDO1_chr20_62872743_62931505	62875290	G G	GCACCCCC others(197): Show GCACCCCCACCCGCACCGGCACCCCCACCCGCACCCCCACCCGCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCGCAC CCCCACCCGCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCC GCACCCCCACCCTCACCCCCACCCTCACCCCCACCCGCACCCGCACCCTC ACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0024 a0001c0009t0001g0024	1	320	0.0031	204	c.39 others(215): Show c.3942_*3943insGGGGTGAGGGTGCGGGTGCGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGG TGCCGGTGCGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2452		chr20	TogoVar
DIP2C_chr10_269201_694668	322128	G G	AGCGAGAG others(197): Show AGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCA GGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCAGCGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGG GCTCCAGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGG CTCCG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	88	0.0114	204	c.392 others(223): Show c.3924+4878_3924+4879insGGAGCCCCGCACCCCCGACTGACTGT TCTAACAACACTGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTT CTAACAACACCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTC TAACAGCGCCGGTCTCTCGCTGGAGCCCTGCACCCCCGCACCCCCGACTG ACTGTTCTAACAGCGCCGGTCTCTCGCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608492	A A	ACACACAC others(197): Show ACACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACAT CCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCACAC ACACACATCCCCCCCACACACACACATCCCCCCCACACACACACATCCCC CCCACACACACACATCCCCCCCACACACACACATCCCCCCCCCACACACA CACAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0030	1	88	0.0114	204	c.85+ others(221): Show c.85+81001_85+81002insATGTGTGTGTGTGGGGGGGGGATGTGTG TGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGG ATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGT GGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATG TGTGTGTGTGGGGGGGGATGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAH10_chr12_123757301_123940714	123912143	G G	GGGGGGGT others(197): Show GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGGGTC TGTCCTGGGGGGGGGTCTGGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTC TGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCT GTCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0026 a0026	a0026c0081 a0026c0081	a0026c0081t0002 a0026c0081t0002	a0026c0081t0002g0155 a0026c0081t0002g0155	1	170	0.0059	204	c.101 others(223): Show c.10135-935_10135-934insTCTGTCCTGGGGGGGGGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGG GTCTGTCCTGGGGGGGGGTCTGGTCCTGGGGGGGGTCTGTCCTGGGGGGG GTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGG TCTGTCCTGGGGGGTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912204	G G	GGGGGGTC others(197): Show GGGGGGTCTGTCCTGGGTGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG TCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTACTGGGGGGGGGTCT GTCCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0002 a0015c0018t0002	a0015c0018t0002g0034 a0015c0018t0002g0034	1	170	0.0059	204	c.101 others(223): Show c.10135-892_10135-891insGGGTCTGTCCTGGGTGGGTCTGTCCT GGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGG GTCTGTACTGGGGGGGGGTCTGTCCTGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK10_chr2_224760090_225047468	225018598	A A	ATATATAA others(197): Show ATATATAATATATATGTAATATTACATATATATAATATATATGTAATATT ATATATATAATATATATGTAATATTACATATATATATAATATATATGTAA TATTATATATATAATATATATGTAATATTATATATATATAATATATATGT AATATTATATATATAATATATATGTAATATTATATATATAATATATATGT AATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02965.hp1 others(2): Show HG01884.hp1 HG02486.hp2 HG02965.hp1 HG03540.hp2 NA18906.hp2	a0002 a0006 a0009 others(1): Show a0002 a0006 a0009 a0011	a0002c0002 a0006c0014 a0009c0024 others(1): Show a0002c0002 a0006c0014 a0009c0024 a0011c0028	a0002c0002t0001 a0006c0014t0010 a0009c0024t0007 others(1): Show a0002c0002t0001 a0006c0014t0010 a0009c0024t0007 a0011c0028t0001	a0002c0002t0001g0068 a0006c0014t0010g0070 a0006c0014t0010g0071 others(2): Show a0002c0002t0001g0068 a0006c0014t0010g0070 a0006c0014t0010g0071 a0009c0024t0007g0069 a0011c0028t0001g0067	5	172	0.0291	204	c.123 others(223): Show c.123+23653_123+23654insATATTACATATATATTATATATATAA TATTACATATATATTATATATATAATATTACATATATATTATATATATAT AATATTACATATATATTATATATATAATATTACATATATATTATATATAT ATGTAATATTACATATATATTATATATATAATATTACATATATATTATAT ATATGTAATATTACATATATATTATATA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	225018608	T T	TATATATG others(197): Show TATATATGTAATATTACATATATAATATATATGTAATATTACATATATAT ATAATATATATGTAATATTATATATATAATATATATGTAATATTATATAT ATAATATATATGTAATATTATATATATATAATATATATGTAATATTATAT ATATAATATATATGTAATATTATATATATAATATATATGTAATATTATAT ATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0066 a0002c0009t0003g0066	1	172	0.0058	204	c.123 others(223): Show c.123+23643_123+23644insTATATATATAATATTACATATATATT ATATATATAATATTACATATATATTATATATATAATATTACATATATATT ATATATATATAATATTACATATATATTATATATATAATATTACATATATA TTATATATATAATATTACATATATATTATATATATATGTAATATTACATA TATATTATATATGTAATATTACATATAT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(197): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTAGTTGGTAGTATTACT GTTGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0115 a0001c0012t0002g0116 a0001c0012t0002g0115 a0001c0012t0002g0116	2	136	0.0147	204	c.47- others(221): Show c.47-23091_47-23090insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGT AGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400382	T T	TCACCACC others(197): Show TCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCC ACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCAC CACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCA CCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC ACCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0201 a0008c0022t0001g0201	1	256	0.0039	204	c.323 others(223): Show c.3234+1128_3234+1129insCCACCTCCACCACCACCAGCATCTTC ACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCAC CTCCACCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCA CCATCACCTCCACCTCCACCATCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(197): Show TCACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATC ACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCAC CATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCA CCTTTCCTATCACCTCCAATATCACTACCTCCTCCACCATCACCACCATC ACCTC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0192 a0002c0005t0001g0192	1	256	0.0039	204	c.323 others(223): Show c.3234+1573_3234+1574insCCACCTCCACCACCACCACCTCCACC ACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCACCACCGTCAC CACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCCCTGCCCA CCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACTACCTCC TCCACCATCACCACCATCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOP1A_chr6_83062671_83173471	83145181	G G	GTATATAT others(197): Show GTATATATATATAATATATATATAATATATATAATATGTATTATATATAT AATATGTAATATATATAATATGTATTATAATATATATATAATATATAATA TATAATATATATATAATAAATATATATAATATATATATAATATATATATT TAAAAGTATATATATATATAATATATATATATATAATATATATATATATA ATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0249 a0003c0003t0001g0249	1	298	0.0034	204	c.554 others(221): Show c.5542-333_5542-332insTAATATATATATAATATATATAATATGT ATTATATATATAATATGTAATATATATAATATGTATTATAATATATATAT AATATATAATATATAATATATATATAATAAATATATATAATATATATATA ATATATATATTTAAAAGTATATATATATATAATATATATATATATAATAT ATATATATATAATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(197): Show ATATATATATAATATATATAATATGTATATATAATATATATATAATATGT ATATATAATATATATAATATATATATAATATATATAATATATATATAATA TATATAATATATATATAATATATATAATATATATATAATATATATATAAT ATATATTATATATATAATATATATATAATATATATATAATATATATATTT AAAAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	298	0.0034	204	c.554 others(221): Show c.5542-322_5542-321insATATATATAATATGTATATATAATATAT ATATAATATGTATATATAATATATATAATATATATATAATATATATAATA TATATATAATATATATAATATATATATAATATATATAATATATATATAAT ATATATATAATATATATTATATATATAATATATATATAATATATATATAA TATATATATTTAAAAGTATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(197): Show ATATATATATAATATATATAATATGTATATATAATATATATATAATATGT ATATATAATATATATATAATATATATAATATATATAATATATATATAATA TATATAATATATATATAATATATATAATATATATATAATATATATATAAT ATATATTATATATATAATATATATATAATATATATATAATATATATATTT AAAAG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	298	0.0034	204	c.554 others(221): Show c.5542-322_5542-321insATATATATAATATGTATATATAATATAT ATATAATATGTATATATAATATATATATAATATATATAATATATATAATA TATATATAATATATATAATATATATATAATATATATAATATATATATAAT ATATATATAATATATATTATATATATAATATATATATAATATATATATAA TATATATATTTAAAAGTATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(197): Show AATATATATATTTAAAAGTATATATATATAATATATATATATAATATATA TAATATGTATATATAATATATATATAATATGTATATATAATATATATATA ATATATATATAATATGTATATATATTATATATATAATATATATATAATAT ATATATAATATATATATAATATATATATAATATATATATTTAAAAGTATA TATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA20300.hp2 HG02559.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0278 a0001c0001t0003g0279	2	298	0.0067	204	c.554 others(221): Show c.5542-317_5542-316insTATATATTTAAAAGTATATATATATAAT ATATATATATAATATATATAATATGTATATATAATATATATATAATATGT ATATATAATATATATATAATATATATATAATATGTATATATATTATATAT ATAATATATATATAATATATATATAATATATATATAATATATATATAATA TATATATTTAAAAGTATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145207	A A	ATATATAA others(197): Show ATATATAATATGTATATATAATATATATATAATATGTATATATAATATAT ATATAATATATATAATATATATAATATATATATAATATATATAATATATA TATAATATATATATTATATATATATTATATATATAATATATATATAATAT ATATATAATATATATATAATATATATATTTAAAAGTATATATATATATAT AATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	298	0.0034	204	c.554 others(221): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATAATATATATATAATATATATATTATATATATATTATA TATATAATATATATATAATATATATATAATATATATATAATATATATATT TAAAAGTATATATATATATATAATAT	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38			chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145207	A A	ATATATAT others(197): Show ATATATATTTAAAAGTATATATATATAATATATATATAATATATATAATA TGTATATATAATATATATATAATATGTATATATAATATATATATAATATA TATATAATATGTATATATATTATATATATAATATATATATAATATATATA TAATATATATATAATATATATATAATATATATATTTAAAAGTATATATAT ATAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG03139.hp2 HG02647.hp1 HG02886.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0232 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0232	3	298	0.0101	204	c.554 others(221): Show c.5542-317_5542-316insTATATATTTAAAAGTATATATATATAAT ATATATATAATATATATAATATGTATATATAATATATATATAATATGTAT ATATAATATATATATAATATATATATAATATGTATATATATTATATATAT AATATATATATAATATATATATAATATATATATAATATATATATAATATA TATATTTAAAAGTATATATATATAAT	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38			chr6	TogoVar
DPEP1_chr16_89608642_89643433	89635202	C C	CCCTTCCT others(197): Show CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0083 a0003c0003t0002g0083	1	250	0.0040	204	c.105 others(219): Show c.105-704_105-703insTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP9_chr19_4670227_4728842	4672030	A A	AATATATA others(197): Show AATATATATATTCATATATTCACATATGTGAATATATATTCATATATTCA CATATGTGAATATATATATTCATATATTCACATATGTGAATATATATATT CATATATTCACATATGTGAATATATATTCATATATTCACATATGTGAATA TATATTCATATATTCACATATGTGAATATATATTCATATATTCACATATG TGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0306 a0001c0001t0008g0306	1	314	0.0032	204	c.45 others(215): Show c.4533_*4534insATTCACATATGTGAATATATGAATATATATTCAC ATATGTGAATATATGAATATATATTCACATATGTGAATATATGAATATAT ATTCACATATGTGAATATATGAATATATATATTCACATATGTGAATATAT GAATATATATATTCACATATGTGAATATATGAATATATATTCACATATGT GAATATATGAATATATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3196		chr19	TogoVar
ELP1_chr9_108862517_108939124	108900756	A A	ACACACAC others(197): Show ACACACACACATACACGCCACACACACATACACGCCACACACACATACAC GCCACACACACATACACGCCACACACACATACACGCCACACACACATACA CGCCACACACACATACACGCCACACACACATACACGCCACACACACATAC ACGCCACACACACATACACGCCACACACACATACACGCCACACACACATA CACGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp2 HG02630.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0044 a0001c0002t0006g0217 a0001c0002t0006g0044 a0001c0002t0006g0217	2	416	0.0048	204	c.201 others(221): Show c.2014+465_2015-382dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTGTGGCGTGTATGTGTGTGTGGCGTGTATGT GTGTGTGGCGTGTATGTGTGTGTGGCGTGTATGTGTGTGTGGCGTGTATG TGTGTGTGGCGTGTATGTGTGTGTGGCGTGTATGTGTGTGTGGCGTGTAT GTGTGTGTGGCGTGTATGTGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
EML1_chr14_99788413_99947060	99928191	G G	GTGGTGAT others(197): Show GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0048 a0001c0004t0003g0048	1	288	0.0035	204	c.190 others(223): Show c.1909+7319_1909+7320insATGGTGGTGATGGTGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(197): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18998.hp2 NA19010.hp1 NA18994.hp2 NA18998.hp2 NA19010.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0159 a0003c0002t0003g0169 a0003c0002t0003g0208 a0003c0002t0003g0159 a0003c0002t0003g0169 a0003c0002t0003g0208	3	288	0.0104	204	c.190 others(223): Show c.1909+7358_1909+7359insATGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ERC1_chr12_986223_1500931	1122642	T T	TATCTGTG others(197): Show TATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG TCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCTATCTCTA TCTGTGCCTATTGATATATCTGTATATATCTATCTCTATCTCTATCTCTA TCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCTA TCTAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 homoSapiens_chm13v2.hp1 HG03579.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0014 a0007c0012t0073 a0001c0001t0014 a0007c0012t0073	a0001c0001t0014g0036 a0007c0012t0073g0067 a0001c0001t0014g0036 a0007c0012t0073g0067	2	162	0.0124	204	c.156 others(223): Show c.1569+6613_1569+6614insGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTCTATCTGTGTCTATTGATATATCTGTATATATCTATCTAA ATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCT ATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGCCTATTG ATATATCTGTATATATCTATCTAAATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122642	T T	TATCTGTG others(197): Show TATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTATT GATATATCTGTATATATCTATCTAAATCTCTATCTCTATCTCTATCTGTG CCTATTGATATATCTGTATATATCTATCTCTATCTCTATCTCTATCTCTA TCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCTA TCTAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18949.hp2 HG01081.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0141 a0001c0001t0008 a0001c0001t0141	a0001c0001t0008g0010 a0001c0001t0141g0002 a0001c0001t0008g0010 a0001c0001t0141g0002	2	162	0.0124	204	c.156 others(223): Show c.1569+6613_1569+6614insGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTGTGTCTATTGATATATCTGTATATATCTATCTAAATCTCT ATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCTATCTCT ATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGCCTATTG ATATATCTGTATATATCTATCTAAATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ESYT2_chr7_158725997_158834509	158745155	A A	AGGCAAGC others(197): Show AGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCT ATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCC GGCTGTTCACACTCACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATG ACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAG GGTCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02071.hp2 HG02080.hp1 others(5): Show HG00438.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp2 NA18985.hp2 NA18989.hp2 NA19055.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 others(5): Show a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0111	8	370	0.0216	204	c.164 others(223): Show c.1645-1478_1645-1477insCGACCCTGTCTCATTAGATAGGTGAG TGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTG TCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCAT GCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGG CCTAGGAGACCTGGTCATGCCGCTTGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745223	A A	AGGCAAGC others(197): Show AGGCAAGCGGCATGACCAGGTCTCCTAGGCCTGGCTGTTCACACACACCT ATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCC GGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATG ACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAG GGTCG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	370	0.0027	204	c.164 others(223): Show c.1645-1546_1645-1545insCGACCCTGTCTCATTAGATAGGTGAG TGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTG TCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCAT GCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGTGTGTGAACAGCCAGG CCTAGGAGACCTGGTCATGCCGCTTGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745299	G G	GGCATGAC others(197): Show GGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATG AGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTC ACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTC TCCTAGGCCGGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGC AAGCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0006 a0002c0010t0006	a0002c0010t0006g0178 a0002c0010t0006g0178	1	370	0.0027	204	c.164 others(223): Show c.1645-1622_1645-1621insTGCTTGCCCGACCCTGTCTCATTAGA TAGGTGAGTGTGAACAGCCCGGCCTAGGAGACCTGGTCATGCCGCTTGCC CGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGAC CTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAA CAGCCGGGCCTAGGAGACCTGGTCATGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
EYS_chr6_63714980_65712226	64686860	T T	TATATATA others(197): Show TATATATATGTGTGTATATATATGTGTATATATATACGTGTATATATATA TACGTGTATATATATATACACACACATATATACGTGTGTATATATGTGTA TATATATACACACACATATATACGTGTATATATATACACACACACATATA TACGTGTATATATATATACACACACATATATACGTGTATATATATATACA CACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02630.hp2 HG02809.hp1	a0002 a0002	a0002c0008 a0002c0021 a0002c0008 a0002c0021	a0002c0008t0002 a0002c0021t0001 a0002c0008t0002 a0002c0021t0001	a0002c0008t0002g0020 a0002c0021t0001g0008 a0002c0008t0002g0020 a0002c0021t0001g0008	2	24	0.0833	204	c.344 others(225): Show c.3444-60616_3444-60615insGTGTGTGTATATATATATACACGT ATATATGTGTGTGTATATATATATACACGTATATATGTGTGTGTGTATAT ATATACACGTATATATGTGTGTGTATATATATACACATATATACACACGT ATATATGTGTGTGTATATATATATACACGTATATATATATACACGTATAT ATATACACATATATATACACACATATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64686860	T T	TATATATA others(197): Show TATATATATGTGTGTATATATATGTGTATATATATACGTGTATATATATA TACGTGTATATATATATACACACACATATATACGTGTGTATATATGTGTA TATATATACACACACATATATACGTGTATATATATATACACACACATATA TACGTGTATATATATATACACACACATATATACGTGTATATATATATACA CACAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0021 a0021	a0021c0024 a0021c0024	a0021c0024t0001 a0021c0024t0001	a0021c0024t0001g0001 a0021c0024t0001g0001	1	24	0.0417	204	c.344 others(225): Show c.3444-60616_3444-60615insGTGTGTGTATATATATATACACGT ATATATGTGTGTGTATATATATATACACGTATATATGTGTGTGTATATAT ATATACACGTATATATGTGTGTGTATATATATACACATATATACACACGT ATATATGTGTGTGTATATATATATACACGTATATATATATACACGTATAT ATATACACATATATATACACACATATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
FAF2_chr5_176443385_176515074	176451811	C C	CACATATA others(197): Show CACATATATATATACATATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATATACATATATA TATACACATATATATATACATATATATATACACATATATATATACATATA TATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	372	0.0027	204	c.63+ others(219): Show c.63+3344_63+3345insTATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451813	C C	CATATATA others(197): Show CATATATATATACATATATATATACACATATATATATACATATATATATA CACATATATATATACATATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATATACATATATA TATACACATATATATATACATATATATATACACATATATATATACATATA TATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	372	0.0027	204	c.63+ others(219): Show c.63+3344_63+3345insTATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA CATATATATATACATATATATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451817	T T	TATATATA others(197): Show TATATATACATATATATATACACACATATATATACATATATATATACACA CATATATATACATATATATATACACACATATATATACATATATATATACA CATATATATATACATATATATATACACATATATATATACATATATATATA CACATATATATATACATATATATATACACATATATATATACATATATATA TACAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	372	0.0027	204	c.63+ others(219): Show c.63+3354_63+3355insCATATATATATACACACATATATATACATA TATATATACACACATATATATACATATATATATACACACATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATACACATATATATA TACATATATATATACACATATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM111B_chr11_59102237_59132412	59106681	G G	GCCGCCAG others(197): Show GCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGC TCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGG CTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCG GCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGC GGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG03486.hp1 HG01243.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0003 a0001c0001t0001 a0003c0005t0003	a0001c0001t0001g0009 a0003c0005t0003g0028 a0001c0001t0001g0009 a0003c0005t0003g0028	2	414	0.0048	204	c.-74 others(213): Show c.-747_-746insCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCC GCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCC CGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTC CCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCT CCCGCCAGCGCGCGGCTC	FAM111B	ENSG00000189057.11	transcript	ENST00000343597.4	protein_coding		555		chr11	TogoVar
FAM168A_chr11_73395487_73603112	73545002	A A	AATTATAT others(197): Show AATTATATATTATATATAATATATATTATATATATTATATATAATATATT ATATATAATATATTATATATATATTATATATAATATATTATATATAATAT ATTATATATATATTATATATATTATATATAATATATATATAATATATATA TATAATATATTATATATATATATTATATATATAATATATATATAATATAT TATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	180	0.0056	204	c.-19 others(223): Show c.-19+52920_-19+52921insATATAATATATTATATATATATTATA TATATAATATATATATATAATATATTATATATATATATTATATATATATT ATATATAATATATATAATATATATATAATATATTATATATAATATATTAT ATATAATATATATATAATATATTATATATAATATATTATATATAATATAT ATAATATATATTATATATAATATATAAT	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FASTKD1_chr2_169523508_169578865	169562132	T T	TTTATTAA others(197): Show TTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAAATTAAT TATTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAAATTA ATTATTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAAAT TAATTATTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAA ATTAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0147 a0001c0006t0001g0152 a0001c0006t0001g0147 a0001c0006t0001g0152	2	392	0.0051	204	c.572 others(221): Show c.572+1092_572+1093insTTAATTTACAATAAATTAATAAATAATT AATTTACAATAAATTAATAAATAATTAATTTACAATAAATTAATAAATAA TTAATTTACAATAAATTAATAAATAATTAATTTACAATAAATTAATAAAT AATTAATTTACAATAAATTAATAAATAATTAATTTACAATAAATTAATAA ATAATTAATTTACAATAAATTAATAA	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FBXL16_chr16_687500_710801	707613	C C	CCCACCTC others(197): Show CCCACCTCTGTCACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCA GCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCCACCTGC CCTCCACCTCTGTCACCAGCTGTGACCCACCTACCCTCCACCTCTGTCAC CAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCCACCT GCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	372	0.0027	204	c.-21 others(215): Show c.-2117_-2116insAGGGCAGGTGGGTCACAGCTGGTGACAGAGGTGG AGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGTAGGTGGGTCAC AGCTGGTGACAGAGGTGGAGGGCAGGTGGGTCACAGCTGGTGACAGAGGT GGAGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGTAGGTGGGTC ACAGCTGGTGACAGAGGTGG	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding		1813		chr16	TogoVar
FBXO34_chr14_55266421_55358611	55331769	A A	ATACACCA others(197): Show ATACACCACCGTGGTGTATATATAAAAATGTATATATACACCACCGTGGT GTATATATAAAAATGTATATATACACCACCGTGGTGTATATATAAAAATG TATATATACACCACCGTGGTGTATATATAAAAATGTATATATACACCACC GTGGTGTATATATAAAAATGTATATATACACCACCGTGGTGTATATATAA AAATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0330 a0004c0004t0006g0330	1	334	0.0030	204	c.-10 others(223): Show c.-10-18610_-10-18609insCACCACCGTGGTGTATATATAAAAAT GTATATATACACCACCGTGGTGTATATATAAAAATGTATATATACACCAC CGTGGTGTATATATAAAAATGTATATATACACCACCGTGGTGTATATATA AAAATGTATATATACACCACCGTGGTGTATATATAAAAATGTATATATAC ACCACCGTGGTGTATATATAAAAATGTA	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FER1L5_chr2_96637764_96709883	96659350	C C	CTTTCTTT others(197): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTC TTTCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	226	0.0044	204	c.748 others(219): Show c.748-989_748-988insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT CTTTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FLT4_chr5_180596506_180654600	180614180	C C	CTGGGGAG others(197): Show CTGGGGAGACAGAGGGAAGCTTGTCCCGCGGTGGATGGGGAGACGGAGGG AAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGT GGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAG GGAAGCGTGTCCCGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTG GTGGA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02145.hp2 HG03209.hp1 HG02145.hp2 HG03209.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0008 a0013c0019t0008	a0013c0019t0008g0059 a0013c0019t0008g0060 a0013c0019t0008g0059 a0013c0019t0008g0060	2	388	0.0052	204	c.322 others(217): Show c.3220-2_3220-1insTCCACCACGGGACACGCTTCCCTCCGTCTCCC CATCCACCGCGGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACA CGCTTCCCTCCGTCTCCCCATCCACCACGGGACACGCTTCCCTCCGTCTC CCCATCCACCACGGGACACGCTTCCCTCCGTCTCCCCATCCACCGCGGGA CAAGCTTCCCTCTGTCTCCCCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180614200	T T	TTGTCCCG others(197): Show TTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGAT GGGGAGACGGAGGGAAGCGTGTCCCGCGGTGGATGGGGAGACGGAGGGAA GCGTGTCCCGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGCGGTGG ATGGGGAGACAGAGGGAAGCTTGTCCCGCGGTGGATGGGGAGACGGAGGG AAGCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp2 HG02717.hp1 HG03195.hp2	a0002 a0027 a0002 a0027	a0002c0002 a0027c0042 a0002c0002 a0027c0042	a0002c0002t0003 a0027c0042t0028 a0002c0002t0003 a0027c0042t0028	a0002c0002t0003g0207 a0027c0042t0028g0379 a0002c0002t0003g0207 a0027c0042t0028g0379	2	388	0.0052	204	c.322 others(219): Show c.3220-22_3220-21insCGCTTCCCTCCGTCTCCCCATCCACCGCGG GACAAGCTTCCCTCTGTCTCCCCATCCACCGCGGGACACGCTTCCCTCCG TCTCCCCATCCACCGCGGGACACGCTTCCCTCCGTCTCCCCATCCACCGC GGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACACGCTTCCCTC CGTCTCCCCATCCACCACGGGACA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180614200	T T	TTGTCCCG others(197): Show TTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGAT GGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAA GCGTGTCCCGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGG ATGGGGAGACAGAGGGAAGCTTGTCCCGCGGTGGATGGGGAGACGGAGGG AAGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp2 others(40): Show HG00099.hp1 HG00280.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp1 HG01123.hp1 HG02027.hp2 HG02132.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03239.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18950.hp2 NA18954.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18982.hp1 NA18984.hp1 NA18993.hp1 NA18994.hp2 NA19004.hp1 NA19011.hp1 NA19056.hp1 NA19064.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0002c0008 others(3): Show a0001c0009 a0002c0002 a0002c0008 a0002c0011 a0002c0029 a0002c0038	a0001c0009t0004 a0001c0009t0014 a0002c0002t0001 others(11): Show a0001c0009t0004 a0001c0009t0014 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0014 a0002c0002t0018 a0002c0002t0022 a0002c0008t0004 a0002c0008t0032 a0002c0011t0004 a0002c0011t0014 a0002c0029t0001 a0002c0038t0004	a0001c0009t0004g0013 a0001c0009t0014g0083 a0002c0002t0001g0027 others(39): Show a0001c0009t0004g0013 a0001c0009t0014g0083 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0072 a0002c0002t0001g0086 a0002c0002t0001g0120 a0002c0002t0001g0255 a0002c0002t0003g0076 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0004g0014 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0056 a0002c0002t0004g0064 a0002c0002t0004g0080 a0002c0002t0004g0093 a0002c0002t0004g0094 a0002c0002t0004g0096 a0002c0002t0004g0098 a0002c0002t0004g0099 a0002c0002t0004g0101 a0002c0002t0004g0187 a0002c0002t0004g0203 a0002c0002t0004g0204 a0002c0002t0004g0266 a0002c0002t0014g0031 a0002c0002t0018g0109 a0002c0002t0018g0163 a0002c0002t0022g0313 a0002c0008t0004g0065 a0002c0008t0004g0296 a0002c0008t0004g0304 a0002c0008t0004g0324 a0002c0008t0032g0305 a0002c0011t0004g0007 a0002c0011t0004g0214 a0002c0011t0014g0166 a0002c0029t0001g0228 a0002c0038t0004g0068	43	388	0.1108	204	c.322 others(219): Show c.3220-22_3220-21insCGCTTCCCTCCGTCTCCCCATCCACCGCGG GACAAGCTTCCCTCTGTCTCCCCATCCACCACGGGACACGCTTCCCTCCG TCTCCCCATCCACCGCGGGACACGCTTCCCTCCGTCTCCCCATCCACCAC GGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACACGCTTCCCTC CGTCTCCCCATCCACCACGGGACA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180614242	T T	TGGTGGAT others(197): Show TGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGAC GGAGGGAAGCGTGTCCCGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCC CGTGGTGGATGGGGAGACAGAGGGAAGCTTGTCCCGCGGTGGATGGGGAG ACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGT CCCGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0347 a0002c0002t0001g0347	1	388	0.0026	204	c.322 others(219): Show c.3220-64_3220-63insGCGGGACACGCTTCCCTCCGTCTCCCCATC CACCACGGGACACGCTTCCCTCCGTCTCCCCATCCACCGCGGGACAAGCT TCCCTCTGTCTCCCCATCCACCACGGGACACGCTTCCCTCCGTCTCCCCA TCCACCGCGGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACACG CTTCCCTCCGTCTCCCCATCCACC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635370	A A	ATGGAAGT others(197): Show ATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGGATGGATGGATGGAA GTATGGGTGGATGGGAGGGTGGGTGGATGGATGGATGGATGGAAGTATGG GTGGATGGGTGGGTGGGTGGATGGATGGATGGATGGAAGTATGGGTGGAT GGGAGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGG GTGGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	388	0.0026	204	c.59- others(219): Show c.59-3593_59-3592insCCCACCCACCCACCCATCCACCCATACTTC CATCCATCCATCCACCCACCCTCCCATCCACCCATACTTCCATCCATCCA TCCATCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATCCATC CACCCACCCTCCCATCCACCCATACTTCCATCCATCCATCCATCCACCCA CCCACCCATCCACCCATACTTCCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FTCD_chr21_46131779_46160579	46134701	G G	GAGGGTGA others(197): Show GAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCA GGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTT TAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGA GGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	230	0.0044	204	c.22 others(215): Show c.2285_*2286insGACCCTCACCCTCACCCTCACCCTCACCCTCACC CTCACCCTGACCCTCACCCTAAACCTGACCCTGACCCTGACCCTGACCCT AAACCTGACCCTAAACCTGACCCTGACCCTAAACCTGACCCTCACCCTGA CCCTGACCCTGACCCTAAACCTGACCCTCACCCTCACCCTCACCCTAAAC CTGACCCTCACCCTCACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2077		chr21	TogoVar
FTCD_chr21_46131779_46160579	46145735	T T	TGCCCTCC others(197): Show TGCCCTCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGC CCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCC AACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCC CTCCCCCCAACAGCGCCCTCCCCCCAACAACTGTGCCCTCCCCTTCCCCC TCCCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0015 a0015	a0015c0023 a0015c0023	a0015c0023t0002 a0015c0023t0002	a0015c0023t0002g0179 a0015c0023t0002g0179	1	230	0.0044	204	c.109 others(219): Show c.1098+82_1098+83insGGGGAGGGGGAAGGGGAGGGCACAGTTGTT GGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCG CAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGG GGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAG GGGGAAGGGCGCTGTTGGGAGGGC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GALR1_chr18_77244848_77282900	77252992	C C	CCACCACC others(197): Show CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0120 a0001c0001t0011g0120	1	366	0.0027	204	c.666 others(221): Show c.666+1792_666+1793insTCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCATCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252998	C C	CCACCACC others(197): Show CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA TCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0047 a0001c0001t0006g0047	1	366	0.0027	204	c.666 others(221): Show c.666+1795_666+1796insTCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GAP43_chr3_115618510_115726483	115698074	A A	ATTATATA others(197): Show ATTATATATAATATATAAAATATATAATATATATAATATATAAAATATAT CTTATATATAATATATAATATATATAAAATATATCTTATATATAATATAT AATATATATAAAATATATCTTATATATAATATATAATATATATAAAATAT ATATTATATATAATATATAATATATATAAAATATATATTATATATAATAT ATAAT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0249 a0001c0001t0004g0249	1	352	0.0028	204	c.628 others(223): Show c.628+21464_628+21465insTTATATATAATATATAAAATATATAA TATATATAATATATAAAATATATCTTATATATAATATATAATATATATAA AATATATCTTATATATAATATATAATATATATAAAATATATCTTATATAT AATATATAATATATATAAAATATATATTATATATAATATATAATATATAT AAAATATATATTATATATAATATATAAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar

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Search Results (Total: 10000 hits)