Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ITGA10_chr1_145886208_145915050	145909622	A A	ATGTTATA others(103): Show ATGTTATATATTATATGTATATTATATATAATATATGTTATATATTATAT GTATATTATATATAATATATAATTGTTATATATTATATGTATATTATATA TAATATATAAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA19062.hp2 HG02683.hp2 NA19062.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0020 a0001c0001 a0016c0020	a0001c0001t0001 a0016c0020t0008 a0001c0001t0001 a0016c0020t0008	a0001c0001t0001g0071 a0016c0020t0008g0072 a0001c0001t0001g0071 a0016c0020t0008g0072	2	390	0.0051	110	c.52+ others(123): Show c.52+340_52+341insATTATATATTATATATAATATACATATAATAT ATAACAATTATATATTATATATAATATACATATAATATATAACATATATT ATATATAATATACATATAATATATAACA	ITGA10	ENSG00000143127.13	transcript	ENST00000369304.8	protein_coding	1/29			chr1	TogoVar
ITPR2_chr12_26330352_26838194	26567941	A A	ATATATAT others(103): Show ATATATATATTATATATATATATATATTATATATATTATATATATATATA TATATTATATATATTATATATATATATATATATTATATATATTATATATA TATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0048 a0001c0006t0003g0048	1	142	0.0070	110	c.463 others(129): Show c.4631-5990_4631-5989insATATATATATATATATATAATATATA TAATATATATATATATATATAATATATATAATATATATATATATATATAA TATATATAATATATATATATATATAATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26775933	C C	CATATATA others(103): Show CATATATATATATATATATATATATATATATACACATACATATATATATA TATATATACATACATATATATATATATACACATACATATATATATATATA TACACATACAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0010 a0001c0024t0010	a0001c0024t0010g0124 a0001c0024t0010g0124	1	142	0.0070	110	c.163 others(129): Show c.163+14223_163+14224insATGTATGTGTATATATATATATATAT GTATGTGTATATATATATATATGTATGTATATATATATATATATATGTAT GTGTATATATATATATATATATATATATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26775933	C C	CATATATA others(103): Show CATATATATATATATATATATATATATATATATACATACATATATATATA TATATATACATACATATATATATATATACACATACATATATATATATATA TACACATACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01243.hp1 HG01361.hp2 others(1): Show HG00140.hp2 HG01243.hp1 HG01361.hp2 NA18956.hp2	a0001 a0010 a0001 a0010	a0001c0029 a0001c0059 a0001c0062 others(1): Show a0001c0029 a0001c0059 a0001c0062 a0010c0066	a0001c0029t0011 a0001c0059t0002 a0001c0062t0020 others(1): Show a0001c0029t0011 a0001c0059t0002 a0001c0062t0020 a0010c0066t0001	a0001c0029t0011g0130 a0001c0059t0002g0090 a0001c0062t0020g0126 others(1): Show a0001c0029t0011g0130 a0001c0059t0002g0090 a0001c0062t0020g0126 a0010c0066t0001g0055	4	142	0.0282	110	c.163 others(129): Show c.163+14223_163+14224insATGTATGTGTATATATATATATATAT GTATGTGTATATATATATATATGTATGTATATATATATATATATATGTAT GTATATATATATATATATATATATATATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
JAKMIP2_chr5_147580438_147787728	147764926	G G	GAAAGAAA others(103): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0197 a0001c0004t0003g0197	1	250	0.0040	110	c.-14 others(131): Show c.-149+17529_-149+17530insTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JPH2_chr20_44101590_44192188	44134483	T T	TTTATATA others(103): Show TTTATATAAATAAATATATATTTATTTATATAAATAAATATATATTTATT TATATATAATAAACATATATTTATTTATATATAATAAATATATATTTATT ATATATAAATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0273 a0001c0004t0014g0273	1	338	0.0030	110	c.117 others(131): Show c.1170-15861_1170-15860insTATTTATATATAATAAATATATAT TTATTATATATAAATAAATATATGTTTATTATATATAAATAAATATATAT TTATTTATATAAATAAATATATATTTATTTATATAA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KALRN_chr3_124028369_124731325	124110012	T T	TATATGTC others(103): Show TATATGTCATACTTTGATATATACATGACATATATGTCATACTTTGATAT ATATGACATATATGTCATACTTTGATATATATGACATATGTCATACTTTG ATATATATGAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0050 a0001c0010t0002g0050	1	116	0.0086	110	c.73+ others(127): Show c.73+76221_73+76222insCATGACATATATGTCATACTTTGATATA TATGACATATATGTCATACTTTGATATATATGACATATGTCATACTTTGA TATATATGACATATGTCATACTTTGATATATA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758241	G G	GATATATA others(103): Show GATATATATATATATATATATATATCCAAGGGGATATATATATATATATA TATATATATATCCAAGGGGATATATATATATATATATATATATCTAAGGG GATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp2 HG02109.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0226 a0001c0002t0001g0217 a0001c0002t0001g0226	2	232	0.0086	110	c.-67 others(129): Show c.-67-49088_-67-49087insATATATATATCCAAGGGGATATATAT ATATATATATATATATATATCCAAGGGGATATATATATATATATATATAT ATCTAAGGGGATATATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758397	T T	TATATATA others(103): Show TATATATATCTCCAAGGGGATATATATATATATATATATATCTCCAAGGG GATATATATATATATATATCTCCAAGAGGGGATATATATATATATATATC TCCAAGAGGGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01978.hp1 HG03225.hp1 HG01255.hp1 HG01978.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0118 a0001c0001t0002g0156 a0001c0001t0002g0094 a0001c0001t0002g0118 a0001c0001t0002g0156	3	232	0.0129	110	c.-67 others(129): Show c.-67-48938_-67-48937insCTCCAAGGGGATATATATATATATAT ATATATCTCCAAGGGGATATATATATATATATATCTCCAAGAGGGGATAT ATATATATATATATCTCCAAGAGGGGATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758537	T T	TATCTCCA others(103): Show TATCTCCAAGAGGGGATATATATATATATATATCTCCAAGAGGGGATATA TATATATATACACACACAAGAGGTGATATATATACATATATATATCTCCA AGAGGTGATTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	232	0.0043	110	c.-67 others(129): Show c.-67-48804_-67-48803insCTCCAAGAGGGGATATATATATATAT ATATCTCCAAGAGGGGATATATATATATATACACACACAAGAGGTGATAT ATATACATATATATATCTCCAAGAGGTGATTGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN4_chr19_43761533_43785973	43780491	G G	GACCCCAG others(103): Show GACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCTGACCCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCTCAGTCCCTCCTCCCTCAGACC CAGGAGTCCAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0349 a0001c0001t0013g0349	1	440	0.0023	110	c.159 others(125): Show c.159+211_159+212insTTGGACTCCTGGGTCTGAGGGAGGAGGGAC TGAGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCAGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGT	KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding	1/8			chr19	TogoVar
KDM4B_chr19_4964113_5158598	5090473	T T	TCCCCCCC others(103): Show TCCCCCCCTCTTTCTCTCCCCCTCTCGCCCCCTCTCTCTCCCTCTCCCCC TCTTTCCCCGCTCCCCCTCTCTCTCTCCCCTTCTCTTTCCCCCTTGCTCT CTCCCCCTCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18522.hp1 NA19030.hp1 HG02145.hp1 NA18522.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0060 a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0060	3	270	0.0111	110	c.918 others(127): Show c.918+7979_918+7980insTTCTCTCCCCCTCTCGCCCCCTCTCTCT CCCTCTCCCCCTCTTTCCCCGCTCCCCCTCTCTCTCTCCCCTTCTCTTTC CCCCTTGCTCTCTCCCCCTCTCCCCCCCCTCT	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM7A_chr7_140079746_140181983	140100660	T T	TTATATAT others(103): Show TTATATATATATATATACACATATATATATATATATATACACATATATAT ATATATATATATATATATATATACACATATATATATATATATATATATAT ATACACATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	344	0.0029	110	c.163 others(127): Show c.1639-638_1639-637insTATATGTGTATATATATATATATATATA TATATATGTGTATATATATATATATATATATATATATATATGTGTATATA TATATATATATATGTGTATATATATATATATA	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KIAA0930_chr22_45187244_45245894	45228891	A A	ACCCCCCA others(103): Show ACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC CACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAA GATCCCTCTCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0138 a0001c0001t0094g0138	1	398	0.0025	110	c.64+ others(127): Show c.64+11748_64+11749insGGAGAGGGATCTTTCGGGTGAGTGGTGG TTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAG AGGGATCTTTCGGGTGAGTGGTGGTTGGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228970	T T	TCACCACT others(103): Show TCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCC GAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTC CACCCCCACAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0252 a0001c0001t0087g0252	1	398	0.0025	110	c.64+ others(127): Show c.64+11669_64+11670insGTGTGGGGGTGGAGAGGGATCTTTCGGG TGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGG GGGGTGAAGAGGGATCTTTCGGGTGAGTGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229012	A A	ACTCACCC others(103): Show ACTCACCCGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGA TCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGATCCCTCTCC ACCCCCCAACC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	398	0.0025	110	c.64+ others(127): Show c.64+11627_64+11628insGGTTGGGGGGTGGAGAGGGATCTCTCGG GTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GGGGGGGGATGGGGAGGGATCTTTCGGGTGAG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229083	C C	CCCGCCAT others(103): Show CCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCA AACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAG ATCCCTCTCCA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0044 a0001c0001t0142g0044	1	398	0.0025	110	c.64+ others(127): Show c.64+11556_64+11557insTGGAGAGGGATCTCTCAGGTGAGTGGTT GGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGATGGCGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229166	C C	CCCAACCA others(103): Show CCCAACCACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCAC TCACCTGAGATCCCTCTCCACCCCCGCCATCACCACTCACCTGAAAGATC CCTCTCCACAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0179 a0001c0001t0038g0179	1	398	0.0025	110	c.64+ others(127): Show c.64+11473_64+11474insATGTGGAGAGGGATCTTTCAGGTGAGTG GTGATGGCGGGGGTGGAGAGGGATCTCAGGTGAGTGGTGATGGCGGGGGT GGAGAGGGATCTCTCAGGTGAGTGGTGGTTGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240780906	A A	ACACACAC others(103): Show ACACACACACAGCTCCACACACACACACACACACACAGCTCCACACACAC ACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACAC ACACACAGCTC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0301 a0002c0002t0001g0301	1	330	0.0030	110	c.882 others(127): Show c.882+1683_882+1684insGAGCTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTG TGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF26B_chr1_245149985_245714432	245323871	G G	GTGGGTGG others(103): Show GTGGGTGGATGGAGGTGGAGGTGGGGTGGTCCTGCCATGGGTGGATGGAG GTGGAGGTGGGGTAGACCCTTATGTGGGTGGTTGGAGGTGGAGGTGGGGT GGGCCCTGCCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03041.hp1 HG03471.hp2 HG02109.hp1 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0038 a0001c0001 a0001c0009 a0001c0038	a0001c0001t0012 a0001c0009t0012 a0001c0038t0006 a0001c0001t0012 a0001c0009t0012 a0001c0038t0006	a0001c0001t0012g0003 a0001c0009t0012g0108 a0001c0038t0006g0147 a0001c0001t0012g0003 a0001c0009t0012g0108 a0001c0038t0006g0147	3	160	0.0188	110	c.466 others(129): Show c.466-42882_466-42881insTGGAGGTGGAGGTGGGGTGGGCCCTG CCATGGGTGGATGGAGGTGGAGGTGGGGTGGTCCTGCCATGGGTGGATGG AGGTGGAGGTGGGGTAGACCCTTATGTGGGTGGT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF27_chr9_83829099_83926432	83848180	T T	TATATCTG others(103): Show TATATCTGATATATCTGATATATCATATATCTGATATATCTGATATATCA TATCTGATATATCAGATATGATATATATGATATATCAGATATGATATATA TGATATATCAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0232	1	346	0.0029	110	c.355 others(129): Show c.3556+1918_3556+1919insCTGATATATCATATATATCATATCTG ATATATCATATATATCATATCTGATATATCAGATATGATATATCAGATAT ATCAGATATATGATATATCAGATATATCAGATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF3B_chr20_32272651_32340011	32322682	A A	ATTTATAT others(103): Show ATTTATATATTTATATATTTATATATATATTTATATATTTATATATATTT ATATATATATTTATATATTTATATATATATTTATATATTTATATATATTT ATATATATATT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	242	0.0041	110	c.174 others(129): Show c.1749-4088_1749-4087insTTATATATTTATATATTTATATATAT ATTTATATATTTATATATATTTATATATATATTTATATATTTATATATAT ATTTATATATTTATATATATTTATATATATATTT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32322764	A A	ATTTATAT others(103): Show ATTTATATATATTTATATATATATTTATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATTTATATATATTTATATAT TTATATTTATT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19002.hp2 HG00621.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0193 a0001c0001t0005g0192 a0001c0001t0001g0193 a0001c0001t0005g0192	2	242	0.0083	110	c.174 others(129): Show c.1749-4006_1749-4005insTTATATATATTTATATATATATTTAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATTTATATATATTTATATATTTATATTTATTT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32322764	A A	ATTTATAT others(103): Show ATTTATATATATTTATATATATATTTATATATTTATATATATTTATATAT ATTTATATATATTTATATATATTTATATATTTATATATATTTATATATAT TTATATTTATT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02165.hp2 NA18949.hp1 others(3): Show HG02135.hp2 HG02165.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0030g0168	6	242	0.0248	110	c.174 others(129): Show c.1749-4006_1749-4005insTTATATATATTTATATATATATTTAT ATATTTATATATATTTATATATATTTATATATATTTATATATATTTATAT ATTTATATATATTTATATATATTTATATTTATTT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(103): Show GATATATATATATATATATATATATATATACAAATTCCTTGTAAGGGAGG TACATAGCTTTATATATATATATATATATATATATATATATATATATATA TATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0151 a0001c0001t0007g0151	1	182	0.0055	110	c.180 others(129): Show c.1803-1482_1803-1481insATATATATATATATATATATATATAT ATATATATATATATATATATATATAAAGCTATGTACCTCCCTTACAAGGA ATTTGTATATATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(103): Show GATATATATATATATATATATATATATATATATATACACAAATTCCTTGT AAGGGAGGTACATAGCTTTATATATATATATATATATATATATATATATA TATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0078 a0001c0001t0016g0078	1	182	0.0055	110	c.180 others(129): Show c.1803-1482_1803-1481insATATATATATATATATATATATATAT ATATATATATATATATAAAGCTATGTACCTCCCTTACAAGGAATTTGTGT ATATATATATATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(103): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATATATACAAATTCCTTGTAAGGGAGGTACATAGCTATATATATATATA TATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	1	182	0.0055	110	c.180 others(129): Show c.1803-1482_1803-1481insATATATATATATATATATATATATAG CTATGTACCTCCCTTACAAGGAATTTGTATATATATATATATATATATAT ATATATATATATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(103): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATACATATATACAAATTCCTTGTAAGGGAGGTACATA GCTTTATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	182	0.0055	110	c.180 others(129): Show c.1803-1482_1803-1481insATATATAAAGCTATGTACCTCCCTTA CAAGGAATTTGTATATATGTATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(103): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATACAAATTCCTTGTAAGGGAGGTACATAGCTTTA TATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	182	0.0055	110	c.180 others(129): Show c.1803-1482_1803-1481insATATATATATATAAAGCTATGTACCT CCCTTACAAGGAATTTGTATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar
KLHL23_chr2_169728832_169756878	169738992	T T	TCCTCCCC others(103): Show TCCTCCCCCTCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCT CCTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCT CCCCCTGCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02647.hp1 others(1): Show HG02486.hp1 HG02630.hp2 HG02647.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0060 a0001c0001t0024g0061 a0001c0001t0024g0062 others(1): Show a0001c0001t0024g0060 a0001c0001t0024g0061 a0001c0001t0024g0062 a0001c0001t0024g0063	4	400	0.0100	110	c.121 others(129): Show c.1214-2386_1214-2385insCTCTCCCCCTCCTCCCCCCTCCCCCT CCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCT CCCCCCTCCCTCTCCTCCCCCTGCTCCCCTCCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(103): Show TCCTCCTCCTCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTC CTCCCCCTCCTCCCCCCTTCCTCCCCCTCCCCCCTCCCCTCCCCCTCCTC CCTCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18984.hp2 NA18964.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0107 a0001c0001t0002g0108	2	406	0.0049	110	c.34 others(121): Show c.3454_*3455insGGGAGGGGAGGGAGGAGGGGGAGGGGAGGGGGGA GGGGGAGGAAGGGGGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGGGGA GGAGGGGGAGGGGGAGGAGGAGGAGG	KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding		1744		chr15	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(103): Show TCCTCCTCCTCCTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCTC CTCCCCCTCCTCCCCCCTTCCTCCCCCTCCCCCCTCCCCTCCCCCTCCTC CCTCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	406	0.0025	110	c.34 others(121): Show c.3454_*3455insGGGAGGGGAGGGAGGAGGGGGAGGGGAGGGGGGA GGGGGAGGAAGGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGAGGA GGAGGGGGAGGGGGAGGAGGAGGAGG	KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding		1744		chr15	TogoVar
LARGE1_chr22_33267509_33925476	33565650	T T	TGACACTC others(103): Show TGACACTCTTCACCTCCTAGTCAAGGAGGACCTAGTCATCACGCGACACT CTTCACCTGACAGCAATAGAGGACACACACATAGGACAGAAGGAGGACCT AGTCATCACGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG00735.hp2 others(22): Show HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01099.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01517.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02486.hp2 HG02523.hp1 HG02683.hp1 HG02683.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03491.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0013 a0001c0016 a0002c0005 a0003c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0026 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0021 a0001c0003t0009 a0001c0008t0012 a0001c0008t0016 a0001c0013t0001 a0001c0016t0020 a0002c0005t0008 a0003c0020t0010	a0001c0001t0001g0020 a0001c0001t0001g0057 a0001c0001t0001g0059 others(22): Show a0001c0001t0001g0020 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0003g0032 a0001c0001t0003g0051 a0001c0001t0005g0024 a0001c0001t0006g0081 a0001c0001t0026g0091 a0001c0001t0031g0109 a0001c0002t0001g0021 a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0055 a0001c0002t0002g0097 a0001c0002t0021g0099 a0001c0003t0009g0015 a0001c0003t0009g0016 a0001c0008t0012g0094 a0001c0008t0016g0042 a0001c0013t0001g0036 a0001c0016t0020g0002 a0002c0005t0008g0022 a0003c0020t0010g0008	25	110	0.2273	110	c.616 others(125): Show c.616-632_616-631insGCGTGATGACTAGGTCCTCCTTCTGTCCTA TGTGTGTGTCCTCTATTGCTGTCAGGTGAAGAGTGTCGCGTGATGACTAG GTCCTCCTTGACTAGGAGGTGAAGAGTGTC	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	5/14			chr22	TogoVar
LCN15_chr9_136754634_136769518	136769383	C C	CCCCGCCA others(103): Show CCCCGCCACCCCCCCATGCACTGCCCCCCCCGACACCCCCGACACCCCCC ATGCACTGCCCCCCCGCCACCCCGCCACCCCCCATGCACTGCCCCCCCCG ACACCCCGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	356	0.0028	110	c.-48 others(121): Show c.-4896_-4895insTGTCGGGGTGTCGGGGGGGGCAGTGCATGGGGGG TGGCGGGGTGGCGGGGGGGCAGTGCATGGGGGGTGTCGGGGGTGTCGGGG GGGGCAGTGCATGGGGGGGTGGCGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4866		chr9	TogoVar
LIG4_chr13_108202442_108220536	108214925	G G	GGATCCCC others(103): Show GGATCCCCCAGACCCCCAATCTGACGCCCCACTTCCCCTACTTGACTCCC CACACATCCCCCGCCTGACGACCCCCCGACCCCCGCCTGACGTCCCAGAC ACCACCCATCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	374	0.0027	110	c.-10 others(127): Show c.-101-425_-101-316dupAGATGGGTGGTGTCTGGGACGTCAGGCG GGGGTCGGGGGGTCGTCAGGCGGGGGATGTGTGGGGAGTCAAGTAGGGGA AGTGGGGCGTCAGATTGGGGGTCTGGGGGATC	LIG4	ENSG00000174405.15	transcript	ENST00000442234.6	protein_coding	1/2			chr13	TogoVar
LMF1_chr16_848634_975984	953066	G G	GACACGGA others(103): Show GACACGGACCCCAAACCAGCCTCCTACAAGTCCACAGAGACACGGACCCC AAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCC TGCACGTCCAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	294	0.0034	110	c.503 others(127): Show c.503+1290_503+1291insGTGGACGTGCAGGAGGCTGGTTTGGGGT GGGTGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGGTCCGTGTCTCTGT GGACTTGTAGGAGGCTGGTTTGGGGTCCGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953091	A A	ACAAGTCC others(103): Show ACAAGTCCACAGAGACACGGACCCCAAACCAGCCTCCTACATGTCCACAC AGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACACCCACCCCAAA CCAGCCTCCTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0004 a0007c0028t0004	a0007c0028t0004g0017 a0007c0028t0004g0017	1	294	0.0034	110	c.503 others(127): Show c.503+1265_503+1266insCAGGAGGCTGGTTTGGGGTGGGTGTGTG GACGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAGGAG GCTGGTTTGGGGTCCGTGTCTCTGTGGACTTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	960966	C C	CACAGACT others(103): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp2 others(11): Show HG00099.hp1 HG00280.hp2 HG00597.hp2 HG01517.hp1 HG02129.hp1 HG02559.hp1 HG04228.hp2 NA18944.hp1 NA18952.hp2 NA18964.hp2 NA18970.hp2 NA18995.hp1 NA19012.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0019 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 others(11): Show a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0019g0258 a0001c0003t0001g0250 a0001c0005t0001g0248	14	294	0.0476	110	c.194 others(127): Show c.194-6410_194-6301dupCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCTGG GTCGTGATCCCGTGCTGTCACCGTGAGTCTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	961640	C C	CAGACTCA others(103): Show CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	294	0.0034	110	c.194 others(127): Show c.194-6975_194-6974insCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCT GGGTCGTGATCCCGTGCTGTCACCGTGAGTCT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LOC114841035_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(103): Show GAGAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATAT ATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	330	0.0030	110	c.-41 others(121): Show c.-4157_-4156insAGAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATA TATATATATATATATATATATATATA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3971		chr11	TogoVar
LRPAP1_chr4_3498612_3537422	3509226	T T	TGTTAAGA others(103): Show TGTTAAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCG GAGACCGTTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGA CACCGGAGACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0172 a0001c0001t0108g0172	1	420	0.0024	110	c.37 others(121): Show c.3747_*3748insGGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGT GACTCCAGTCGGCGTCTCAACGGTCTCCGGTGTCCACGCGTTGACTGCCG TGTGTGACTCCAGTCGGCGTCTTAAC	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3747		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509228	T T	TTAAGACG others(103): Show TTAAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp1 HG02647.hp1 HG03831.hp1 HG02165.hp1 HG02647.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0151 a0001c0001t0182 a0001c0001t0183 a0001c0001t0151 a0001c0001t0182 a0001c0001t0183	a0001c0001t0151g0078 a0001c0001t0182g0151 a0001c0001t0183g0152 a0001c0001t0151g0078 a0001c0001t0182g0151 a0001c0001t0183g0152	3	420	0.0071	110	c.37 others(121): Show c.3745_*3746insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTTA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3745		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509228	T T	TTGAGACG others(103): Show TTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG02258.hp1 HG02976.hp2 others(2): Show HG01167.hp1 HG02258.hp1 HG02976.hp2 HG03540.hp1 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0034 a0003c0004t0055 a0003c0004t0034 a0003c0004t0055	a0003c0004t0034g0024 a0003c0004t0034g0064 a0003c0004t0055g0062 others(1): Show a0003c0004t0034g0024 a0003c0004t0034g0064 a0003c0004t0055g0062 a0003c0004t0055g0063	5	420	0.0119	110	c.37 others(121): Show c.3745_*3746insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3745		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509283	T T	TTGAGACG others(103): Show TTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp1 HG03927.hp2 HG04184.hp2 others(3): Show HG02040.hp1 HG03927.hp2 HG04184.hp2 NA18972.hp2 NA18994.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0056 a0001c0001t0162 a0001c0001t0185 others(2): Show a0001c0001t0056 a0001c0001t0162 a0001c0001t0185 a0001c0001t0186 a0002c0003t0102	a0001c0001t0056g0130 a0001c0001t0056g0289 a0001c0001t0162g0122 others(3): Show a0001c0001t0056g0130 a0001c0001t0056g0289 a0001c0001t0162g0122 a0001c0001t0185g0131 a0001c0001t0186g0132 a0002c0003t0102g0228	6	420	0.0143	110	c.36 others(121): Show c.3690_*3691insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3690		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509555	C C	CTGCTGAG others(103): Show CTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACC GGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGG ACACCGGAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp2 HG03831.hp2 NA18972.hp1 others(2): Show HG02683.hp2 HG03831.hp2 NA18972.hp1 NA18993.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0083 a0001c0001t0084 a0001c0001t0029 a0001c0001t0083 a0001c0001t0084	a0001c0001t0029g0276 a0001c0001t0029g0277 a0001c0001t0029g0286 others(2): Show a0001c0001t0029g0276 a0001c0001t0029g0277 a0001c0001t0029g0286 a0001c0001t0083g0248 a0001c0001t0084g0247	5	420	0.0119	110	c.34 others(121): Show c.3418_*3419insTTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTG ACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGT GTGTGACTCCAGTCGGCGTCTCAGCA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3418		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509583	C C	CGGCAGTC others(103): Show CGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTC ACACACGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTG GAGTCACACAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0098 a0001c0001t0089g0098	1	420	0.0024	110	c.33 others(121): Show c.3390_*3391insATGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCC GGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAG TCTCCGGTGTCCACGCGTTGACTGCC	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3390		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509610	C C	ATGCTGAG others(103): Show ATGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACC GGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGG ACACCGGAGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0257 a0001c0001t0068g0257	1	420	0.0024	110	c.33 others(121): Show c.3364_*3365insTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGA CTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTG TGTGACTCCAGTCGGCGTCTCAGCAT	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3364		chr4	TogoVar
LRRC27_chr10_132327193_132386508	132358557	G G	GTAGAGCA others(103): Show GTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGCCG AGGTGGTGGAGCGTGGGAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGG AGCCGAGGTGA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	290	0.0035	110	c.117 others(129): Show c.1170+2672_1170+2673insAGAGCAGTGTGGGGAGGAGCCAAGGT GGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAG GTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGAT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358647	C C	CAGTGTGG others(103): Show CAGTGTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGA TGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGCGTGGGGAGGAGC CGAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0098 a0001c0003t0006g0098	1	290	0.0035	110	c.117 others(129): Show c.1171-2782_1171-2781insTGTGGGGAGGAGCCGAGGTGATGGAG CAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGCGTGGGGAGGAGCCGAGG TGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358873	C C	CGTGGGGA others(103): Show CGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGG TGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGC CGAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0283 a0001c0009t0002g0283	1	290	0.0035	110	c.117 others(129): Show c.1171-2584_1171-2583insGTGGGGAGGAGCCGAGGTGGTGGAGC AGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGT GGTAGAGCAGTGTGGGGAGGAGCCGAGGTGGTGG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)