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.

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
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02976.hp1 NA18968.hp2 others(1): Show HG02895.hp2 HG02976.hp1 NA18968.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0018 a0001c0001t0007 a0001c0001t0013 a0001c0001t0018	a0001c0001t0007g0244 a0001c0001t0013g0236 a0001c0001t0018g0294 others(1): Show a0001c0001t0007g0244 a0001c0001t0013g0236 a0001c0001t0018g0294 a0001c0001t0018g0295	4	312	0.0128	40	c.212 others(57): Show c.212+3273_212+3274insTATATATATATATATATATATATATATA TATATATATATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GEMIN6_chr2_38773210_38790002	38773781	C C	CTTTCTCT others(33): Show CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0052 a0001c0001t0034g0052	1	412	0.0024	40	c.-45 others(51): Show c.-4520_-4519insTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding		4428		chr2	TogoVar
GET4_chr7_871554_901436	889743	T T	TCTGGGAG others(33): Show TCTGGGAGTGGAGGGAGCGCAAGCGGGTGTTAGGACGGGGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02148.hp2 NA18522.hp1 others(1): Show HG01496.hp1 HG02148.hp2 NA18522.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0019 a0001c0002 a0001c0015 a0001c0019	a0001c0002t0002 a0001c0002t0006 a0001c0015t0002 others(1): Show a0001c0002t0002 a0001c0002t0006 a0001c0015t0002 a0001c0019t0001	a0001c0002t0002g0155 a0001c0002t0006g0050 a0001c0015t0002g0096 others(1): Show a0001c0002t0002g0155 a0001c0002t0006g0050 a0001c0015t0002g0096 a0001c0019t0001g0126	4	384	0.0104	40	c.467 others(57): Show c.467-1166_467-1165insAAGCGGGTGTTAGGACGGGGCCTGGGAG TGGAGGGAGCGC	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889773	T T	TAGGACGG others(33): Show TAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01071.hp1 others(2): Show HG00280.hp1 HG01069.hp1 HG01071.hp1 HG01175.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0008 a0001c0003 a0001c0005 a0001c0008	a0001c0003t0002 a0001c0005t0001 a0001c0008t0001 a0001c0003t0002 a0001c0005t0001 a0001c0008t0001	a0001c0003t0002g0041 a0001c0003t0002g0270 a0001c0005t0001g0275 others(1): Show a0001c0003t0002g0041 a0001c0003t0002g0270 a0001c0005t0001g0275 a0001c0008t0001g0271	5	384	0.0130	40	c.467 others(57): Show c.467-1127_467-1126insCGAGCGGGTGTCAGGACGGGGCCTGGGA GTGGAGGGAGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889893	T T	TAGGACGG others(33): Show TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	384	0.0026	40	c.467 others(57): Show c.467-1007_467-1006insCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889943	T T	TCTGGGAG others(33): Show TCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0160 a0001c0002t0007g0160	1	384	0.0026	40	c.467 others(55): Show c.467-967_467-966insTGAGCGGGTGTTAGGACGGGGCCTGGGAGT GGAGGGAGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	900661	C C	CGCTGGGG others(33): Show CGCTGGGGTCCCCACAGAGGGGCTGGGGTCCCCACAGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	384	0.0026	40	c.52 others(51): Show c.5239_*5240insGCTGGGGTCCCCACAGAGGGGCTGGGGTCCCCAC AGAGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding		4226		chr7	TogoVar
GFOD1_chr6_13352830_13492600	13409088	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0029 a0001c0002t0032g0029	1	230	0.0044	40	c.254 others(59): Show c.254-43466_254-43427dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 NA18966.hp1 HG02886.hp1 NA18966.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0026 a0001c0003t0002 a0001c0003t0026	a0001c0003t0002g0329 a0001c0003t0026g0353 a0001c0003t0002g0329 a0001c0003t0026g0353	2	412	0.0049	40	c.41 others(51): Show c.4105_*4106insATATATATATATATATATATATATATTTTTTTTT TTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116117561	A A	ATGGATGG others(33): Show ATGGATGGATGGATGGATGGGTGGGTGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00642.hp2 others(20): Show HG00423.hp1 HG00438.hp2 HG00642.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG02027.hp1 HG02132.hp1 HG03471.hp1 HG03688.hp2 HG04115.hp2 NA18950.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18975.hp2 NA18989.hp2 NA19065.hp2 NA19070.hp1 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0013 a0002c0003 others(1): Show a0001c0001 a0001c0013 a0002c0003 a0006c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0095 a0001c0001t0100 a0001c0001t0103 a0001c0001t0111 a0001c0001t0120 a0001c0001t0124 a0001c0001t0125 a0001c0001t0132 a0001c0013t0005 a0002c0003t0004 a0002c0003t0011 a0002c0003t0108 a0006c0011t0004	a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0091 others(20): Show a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0004g0079 a0001c0001t0008g0020 a0001c0001t0008g0035 a0001c0001t0013g0143 a0001c0001t0013g0194 a0001c0001t0017g0211 a0001c0001t0020g0016 a0001c0001t0095g0120 a0001c0001t0100g0122 a0001c0001t0103g0104 a0001c0001t0111g0114 a0001c0001t0120g0096 a0001c0001t0124g0115 a0001c0001t0125g0105 a0001c0001t0132g0094 a0001c0013t0005g0062 a0002c0003t0004g0082 a0002c0003t0011g0178 a0002c0003t0108g0072 a0006c0011t0004g0127	23	214	0.1075	40	c.770 others(57): Show c.770+7659_770+7660insCCCACCCACCCACCCACCCACCCATCCA TCCATCCATCCA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	6/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694071	T T	TATTATAT others(33): Show TATTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0047 a0002c0017t0002g0047	1	322	0.0031	40	c.127 others(57): Show c.1272+392_1272+393insTATATATATATATATATATATATATATA TATATATATAAT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRAL_chr6_55322469_55407493	55395175	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0244 a0003c0003t0002g0244	1	386	0.0026	40	c.953 others(57): Show c.953-4004_953-4003insAAAATATATATATATATATATATATATA TATATATATATA	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GGT1_chr22_24598193_24633996	24605035	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0273 a0001c0001t0008g0273	1	426	0.0024	40	c.-42 others(59): Show c.-429+1509_-429+1510insTATATATATATATATATATATATATA TATATATATATAAA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT5_chr22_24214660_24250082	24227221	A A	ATTACAGG others(33): Show ATTACAGGCGTAAGCCATCATGCCCCGCCTTTTTTGTGTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02559.hp2 others(7): Show HG01891.hp1 HG02145.hp1 HG02559.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp2 NA20300.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0019 a0001c0001 a0011c0019	a0001c0001t0001 a0011c0019t0001 a0001c0001t0001 a0011c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0082 a0011c0019t0001g0052	10	420	0.0238	40	c.902 others(55): Show c.902-494_902-455dupAAACACAAAAAAGGCGGGGCATGATGGCTT ACGCCTGTAA	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	6/11			chr22	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0176 a0003c0003t0002g0176	1	422	0.0024	40	c.58- others(53): Show c.58-191_58-190insCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0171 a0003c0003t0007g0171	1	422	0.0024	40	c.58- others(53): Show c.58-191_58-190insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(33): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp1 HG02622.hp2 others(4): Show HG01123.hp1 HG01496.hp1 HG02622.hp2 HG03195.hp1 HG06807.hp2 NA18906.hp2 NA19240.hp2	a0004 a0004	a0004c0005 a0004c0010 a0004c0005 a0004c0010	a0004c0005t0001 a0004c0010t0001 a0004c0005t0001 a0004c0010t0001	a0004c0005t0001g0018 a0004c0005t0001g0058 a0004c0005t0001g0064 others(2): Show a0004c0005t0001g0018 a0004c0005t0001g0058 a0004c0005t0001g0064 a0004c0005t0001g0197 a0004c0010t0001g0207	7	422	0.0166	40	c.58- others(53): Show c.58-191_58-190insCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTTCCT others(33): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0183 a0003c0003t0007g0183	1	422	0.0024	40	c.58- others(53): Show c.58-168_58-167insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCC	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG01257.hp1 others(4): Show HG00423.hp2 HG00673.hp1 HG01257.hp1 HG02015.hp2 NA18940.hp2 NA18995.hp1 NA19007.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0007	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0007c0011	a0002c0002t0001 a0003c0003t0003 a0004c0004t0011 others(3): Show a0002c0002t0001 a0003c0003t0003 a0004c0004t0011 a0004c0004t0012 a0004c0004t0016 a0007c0011t0001	a0002c0002t0001g0012 a0003c0003t0003g0010 a0003c0003t0003g0011 others(4): Show a0002c0002t0001g0012 a0003c0003t0003g0010 a0003c0003t0003g0011 a0004c0004t0011g0002 a0004c0004t0012g0009 a0004c0004t0016g0027 a0007c0011t0001g0008	7	210	0.0333	40	c.-12 others(59): Show c.-12+50341_-12+50342insAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(33): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18940.hp1 HG03579.hp2 NA18940.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0003 a0002c0002t0001 a0003c0003t0003	a0002c0002t0001g0088 a0003c0003t0003g0178 a0002c0002t0001g0088 a0003c0003t0003g0178	2	210	0.0095	40	c.70+ others(57): Show c.70+10158_70+10159insATAAAATAAAATAAAATAAAATAAAATA AATAAAATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42583878	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0016 a0004c0004t0016	a0004c0004t0016g0023 a0004c0004t0016g0023	1	210	0.0048	40	c.70+ others(57): Show c.70+17953_70+17954insTATATATATATATATATATATATATATA TATATATATATA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GJA10_chr6_89889469_89901120	89898131	T T	TTTCCCTT others(33): Show TTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	40	c.20 others(51): Show c.2031_*2032insTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCC	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		2012		chr6	TogoVar
GKAP1_chr9_83734425_83822769	83779586	C C	CATGTATA others(33): Show CATGTATATGTGTATATATATACACACATATATATACACAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	336	0.0060	40	c.585 others(55): Show c.585+795_585+796insATGTGTATATATATGTGTGTATATATATAC ACATATACAT	GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	7/12			chr9	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0088 a0001c0003t0003g0088	1	464	0.0022	40	c.204 others(55): Show c.204+523_204+524insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(33): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	464	0.0022	40	c.204 others(55): Show c.204+500_204+501insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02135.hp2 HG02280.hp1 others(8): Show HG01884.hp1 HG02135.hp2 HG02280.hp1 HG02630.hp1 NA18948.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18990.hp1 NA19059.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0099 a0001c0001t0001g0010 a0001c0001t0001g0099	11	464	0.0237	40	c.204 others(55): Show c.204+500_204+501insGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN2_chr2_68940232_68957893	68957455	C C	CTTCTTTA others(33): Show CTTCTTTACTTGTAAATTAGATTGTTCTATTCCTATTTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	466	0.0022	40	c.-45 others(51): Show c.-4595_-4594insCATAAATAGGAATAGAACAATCTAATTTACAAGT AAAGAA	GKN2	ENSG00000183607.10	transcript	ENST00000328895.9	protein_coding		4563		chr2	TogoVar
GK_chrX_30648423_30736462	30704128	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	286	0.0035	40	c.851 others(57): Show c.851+3244_851+3245insATATATATATATATATATATATATATAT ATATATATATAT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	11/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLB1_chr3_32991617_33102146	33074385	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0010 a0005c0009t0001g0010	1	394	0.0025	40	c.76- others(55): Show c.76-1673_76-1672insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01993.hp1 HG02970.hp1 others(1): Show HG01496.hp2 HG01993.hp1 HG02970.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0030 a0001c0001t0001g0095 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0095 a0001c0001t0001g0099 a0002c0002t0001g0370	4	394	0.0102	40	c.76- others(55): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(33): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02630.hp2 others(3): Show HG01257.hp1 HG01258.hp1 HG02630.hp2 HG03239.hp1 NA18952.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0002g0227 others(3): Show a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0002g0227 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0002g0277	6	394	0.0152	40	c.76- others(55): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01255.hp2 others(5): Show HG00642.hp2 HG00738.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG02602.hp2 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0330 a0002c0002t0001g0345 a0002c0002t0001g0364 others(5): Show a0002c0002t0001g0330 a0002c0002t0001g0345 a0002c0002t0001g0364 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0276 a0002c0002t0002g0312 a0002c0002t0002g0350	8	394	0.0203	40	c.76- others(55): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA20905.hp2 NA18964.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0001 a0002c0002t0002 a0002c0003t0001	a0002c0002t0002g0300 a0002c0003t0001g0278 a0002c0002t0002g0300 a0002c0003t0001g0278	2	394	0.0051	40	c.76- others(55): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTCC TTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0295 a0002c0003t0001g0295	1	394	0.0025	40	c.76- others(55): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTCCTTCCTTCCTTCC TTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(33): Show ATATATATATATATATGTATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02965.hp2 NA19065.hp2 HG01256.hp2 HG02965.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0003t0003g0033 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0003t0003g0033	3	342	0.0088	40	c.335 others(57): Show c.335-9639_335-9638insAAAAAATATATATATATATATATACATA TATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(33): Show ATATATATATATATATGTATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03225.hp2 HG03491.hp2 others(3): Show HG01981.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0001c0002t0011 a0002c0006t0001 a0001c0002t0001 a0001c0002t0011 a0002c0006t0001	a0001c0002t0001g0009 a0001c0002t0001g0020 a0001c0002t0001g0085 others(3): Show a0001c0002t0001g0009 a0001c0002t0001g0020 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0011g0058 a0002c0006t0001g0126	6	342	0.0175	40	c.335 others(57): Show c.335-9639_335-9638insAAAAAAAATATATATATATATATACATA TATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(33): Show ATATATATATATATGTATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0025 a0001c0021t0025	a0001c0021t0025g0079 a0001c0021t0025g0079	1	342	0.0029	40	c.335 others(57): Show c.335-9639_335-9638insAAAATATATATATATATATATATATACA TATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(33): Show ATATATATATATATGTATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0108 a0001c0004t0001g0108	1	342	0.0029	40	c.335 others(57): Show c.335-9639_335-9638insAAAAAATATATATATATATATATATACA TATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLE1_chr9_128499719_128547288	128520336	G G	GTGTATAT others(33): Show GTGTATATATGTATATATGTATGTGTGTATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	360	0.0028	40	c.433 others(57): Show c.433-2325_433-2324insATGTATATATGTATGTGTGTATATATGT ATATATGTATAT	GLE1	ENSG00000119392.16	transcript	ENST00000309971.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
GLE1_chr9_128499719_128547288	128520336	G G	GTGTATAT others(33): Show GTGTATATGTGTATATATGTATGTGTGTATATATGTATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01358.hp1 HG02615.hp1 others(2): Show HG00735.hp1 HG01358.hp1 HG02615.hp1 HG02717.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0132 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135	5	360	0.0139	40	c.433 others(57): Show c.433-2290_433-2251dupGTATATGTGTATATATGTATGTGTGTAT ATATGTATATAT	GLE1	ENSG00000119392.16	transcript	ENST00000309971.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
GLG1_chr16_74442440_74612114	74539999	A A	ATATTTTA others(33): Show ATATTTTATATATATATTATATATATATTTTATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19002.hp1 NA18954.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0294 a0001c0001t0002g0290 a0001c0001t0002g0294	2	342	0.0059	40	c.439 others(57): Show c.439-7847_439-7846insATATATATATAAAATATATATATAATAT ATATATAAAATA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLI2_chr2_120730868_120997653	120995109	C C	CTTTTACA others(33): Show CTTTTACATACTTTACACTTCTTTTGTTTTACTCACTACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0030 a0002c0001t0030	a0002c0001t0030g0048 a0002c0001t0030g0048	1	160	0.0063	40	c.44 others(51): Show c.4434_*4435insTTTTACATACTTTACACTTCTTTTGTTTTACTCA CTACCT	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding		2457		chr2	TogoVar
GLI3_chr7_41955949_42242209	42182664	A A	ATACGTGT others(33): Show ATACGTGTGTGTATATATATATATATATATATACGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0027 a0001c0018t0027	a0001c0018t0027g0140 a0001c0018t0027g0140	1	158	0.0063	40	c.125 others(59): Show c.125-34197_125-34196insCACACACGTATATATATATATATATA TATACACACACGTA	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLI3_chr7_41955949_42242209	42182666	A A	ACGTGTGT others(33): Show ACGTGTGTGTATATATATATATATATATATACGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0123 a0003c0003t0002g0124	2	158	0.0127	40	c.125 others(59): Show c.125-34199_125-34198insCACACACACGTATATATATATATATA TATATACACACACG	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLIS1_chr1_53501239_53744164	53709367	T T	TATACATA others(33): Show TATACATATATATATACATATATACATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0033 a0006c0007t0006g0033	1	236	0.0042	40	c.259 others(59): Show c.259+28438_259+28439insGTATATGTATATATATGTATATATGT ATATATATATGTAT	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLRA1_chr5_151817513_151929851	151849376	G G	GTTTCCTT others(33): Show GTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18941.hp1 NA18990.hp2 others(1): Show HG04204.hp2 NA18941.hp1 NA18990.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0076 a0001c0001t0002g0245 a0001c0001t0002g0275 others(1): Show a0001c0001t0001g0076 a0001c0001t0002g0245 a0001c0001t0002g0275 a0001c0001t0002g0279	4	284	0.0141	40	c.912 others(57): Show c.912+1974_912+2013dupGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849396	C C	CTTTCCTT others(33): Show CTTTCCTTTCATTTCCTTTCCTTTCCTTTCCTTTCATTTCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	284	0.0035	40	c.912 others(57): Show c.912+1993_912+1994insTGAAATGAAAGGAAAGGAAAGGAAAGGA AATGAAAGGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849458	T T	TTCCTTTC others(33): Show TTCCTTTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	284	0.0035	40	c.912 others(57): Show c.912+1931_912+1932insGAGGGAGGGAGGGAGGGAGGGAGGGAAG GAAAGGAAAGGA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLT1D1_chr12_128848478_128989968	128874057	C C	CTGCCTCC others(33): Show CTGCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp1 HG02622.hp2 HG03209.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0043 a0003c0005t0004g0316 a0003c0005t0004g0043 a0003c0005t0004g0316	2	320	0.0063	40	c.69- others(55): Show c.69-1856_69-1855insGCCTCCCTCCCTCCCTCCCTCCTTTCTTTC TTTCTTTCTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128908323	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0296 a0001c0002t0001g0296	1	320	0.0031	40	c.376 others(57): Show c.376-4078_376-4077insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results (Total: 6641 hits)