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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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
SEC24B_chr4_109428815_109545896	109483003	C C	CACACACA others(29): Show CACACACACACACACACACACACATACACACACACAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0097 a0001c0002t0004g0097	1	222	0.0045	36	c.116 others(55): Show c.1165+1223_1165+1224insCACACACACACACACACACACATACA CACACACATA	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG04204.hp1 HG01256.hp1 HG01258.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0133 a0001c0001t0001g0003 a0001c0001t0001g0133	3	328	0.0092	36	c.296 others(53): Show c.2968+697_2968+698insTATATATATATATATATATATATATATA TATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SECISBP2_chr9_89313500_89364663	89346630	G G	GTGTTCCT others(29): Show GTGTTCCTAAATTACTTGATACTTTTTGGGAATCTCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01069.hp2 others(8): Show HG00280.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG02683.hp1 HG03239.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0042 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235	11	380	0.0290	36	c.143 others(53): Show c.1436-250_1436-215dupGTTCCTAAATTACTTGATACTTTTTGGG AATCTCAT	SECISBP2	ENSG00000187742.15	transcript	ENST00000375807.8	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(29): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02293.hp1 HG02071.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0042 a0001c0001t0002g0050	2	324	0.0062	36	c.11 others(47): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(29): Show GAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01496.hp1 HG01975.hp1 others(6): Show HG00673.hp2 HG01496.hp1 HG01975.hp1 HG03516.hp1 HG03834.hp2 HG04204.hp2 NA18957.hp1 NA18988.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0198 others(6): Show a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0212 a0001c0001t0001g0288 a0001c0001t0002g0023 a0001c0001t0002g0045 a0001c0001t0002g0065	9	324	0.0278	36	c.11 others(47): Show c.1165_*1166insTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTT CT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGGA others(29): Show GAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG03195.hp1 NA19043.hp2 HG01167.hp2 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0210 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0210	3	324	0.0093	36	c.11 others(47): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTT CT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848356	A A	AGAAGAAG others(29): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	324	0.0031	36	c.11 others(47): Show c.1128_*1129insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		890		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(29): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01358.hp1 HG03017.hp2 others(1): Show HG00140.hp2 HG01358.hp1 HG03017.hp2 NA19054.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0003 a0002c0002t0004 a0006c0008t0003 a0002c0002t0003 a0002c0002t0004 a0006c0008t0003	a0002c0002t0003g0139 a0002c0002t0003g0246 a0002c0002t0004g0014 others(1): Show a0002c0002t0003g0139 a0002c0002t0003g0246 a0002c0002t0004g0014 a0006c0008t0003g0229	4	324	0.0124	36	c.11 others(47): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848556	A A	AGAAGAAG others(29): Show AGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0215 a0007c0010t0001g0215	1	324	0.0031	36	c.92 others(45): Show c.928_*929insCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		690		chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25746515	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG04199.hp2 HG03669.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0216 a0001c0001t0003g0086 a0001c0001t0003g0216	2	312	0.0064	36	c.19 others(47): Show c.1909_*1910insTTAAATATATATATATATATATATATATATATAT AT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		917		chr4	TogoVar
SELENON_chr1_25795193_25823221	25819427	T T	TGAGAGAG others(29): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA19030.hp1 HG02922.hp1 NA19030.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0151 a0001c0011t0006g0152 a0001c0011t0006g0151 a0001c0011t0006g0152	2	392	0.0051	36	c.37 others(47): Show c.3709_*3710insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		1207	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENOP_chr5_42794880_42816892	42814125	G G	GGTCTTCT others(29): Show GGTCTTCTTGTTTTTTTTTTTTTTTTTTTTTTTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	396	0.0025	36	c.-23 others(47): Show c.-2304_-2303insAAACAAAAAAAAAAAAAAAAAAAAAAACAAGAAG AC	SELENOP	ENSG00000250722.6	transcript	ENST00000514985.6	protein_coding		2234	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr5	TogoVar
SELENOS_chr15_101267191_101282485	101280124	T T	TTCAACAT others(29): Show TTCAACATAATCTGTCTCAGTATTGCAACAATCAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	448	0.0022	36	c.-27 others(47): Show c.-2708_-2707insGTCTGATTGTTGCAATACTGAGACAGATTATGTT GA	SELENOS	ENSG00000131871.15	transcript	ENST00000526049.6	protein_coding		2640		chr15	TogoVar
SEMA3D_chr7_84990553_85192056	85066913	C C	CACACACA others(29): Show CACACACACACACACAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp2 HG02109.hp2 HG02896.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0036 a0002c0005t0016 a0002c0005t0036	a0002c0005t0016g0160 a0002c0005t0036g0190 a0002c0005t0016g0160 a0002c0005t0036g0190	2	266	0.0075	36	c.589 others(53): Show c.589+1277_589+1278insCTCTCTCTCTCTCTCTCTCTCTGTGTGT GTGTGTGT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	7/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83554994	A A	AAATAAAT others(29): Show AAATAAATAAATAAATAAATAAATAAATAAATGAATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp1 HG03471.hp1 HG02615.hp1 HG03195.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0021 a0001c0005t0013 a0001c0005t0021	a0001c0005t0013g0054 a0001c0005t0013g0055 a0001c0005t0021g0157 a0001c0005t0013g0054 a0001c0005t0013g0055 a0001c0005t0021g0157	3	226	0.0133	36	c.116 others(55): Show c.116-64721_116-64720insCATTCATTTATTTATTTATTTATTTA TTTATTTATT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89450660	G G	GGAAAAAA others(29): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	370	0.0027	36	c.-24 others(55): Show c.-244+5227_-244+5228insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9088659	T T	TATATATA others(29): Show TATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0133 a0001c0001t0081g0133	1	134	0.0075	36	c.207 others(57): Show c.2073+19480_2073+19481insGTGTGTGTGTGTATATATATATAT ATATATATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116579517	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02135.hp1 HG02717.hp2 others(2): Show HG02004.hp2 HG02135.hp1 HG02717.hp2 NA18955.hp1 NA18956.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0010 a0001c0001t0066 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0066 a0002c0002t0076	a0001c0001t0002g0241 a0001c0001t0010g0221 a0001c0001t0010g0257 others(2): Show a0001c0001t0002g0241 a0001c0001t0010g0221 a0001c0001t0010g0257 a0001c0001t0066g0261 a0002c0002t0076g0270	5	304	0.0165	36	c.-53 others(47): Show c.-5372_-5371insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding		4695		chr5	TogoVar
SEMG2_chr20_45216373_45229458	45225392	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	362	0.0028	36	c.11 others(47): Show c.1146_*1147insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAA AG	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		935		chr20	TogoVar
SENP1_chr12_48037897_48111079	48056635	T T	TATATTAC others(29): Show TATATTACATATATAAATATATTATTTAATATATTAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0346 a0001c0001t0004g0346	1	394	0.0025	36	c.140 others(55): Show c.1407+7039_1407+7074dupGTAATATATTAAATAATATATTTATA TATGTAATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078317	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	394	0.0025	36	c.553 others(53): Show c.553-3525_553-3524insTATATATATATATATATATATATATATA TATATATA	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18943.hp2 HG00544.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0377 a0001c0001t0001g0362 a0001c0001t0001g0377	2	394	0.0051	36	c.553 others(53): Show c.553-3542_553-3541insGTGTGTGTATATATATATATATATATAT ATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	394	0.0025	36	c.553 others(53): Show c.553-3542_553-3541insGTGTATATATATATATATATATATATAT ATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00639.hp2 others(7): Show HG00280.hp1 HG00544.hp1 HG00639.hp2 HG02135.hp1 HG02717.hp2 HG03669.hp2 HG03710.hp1 NA18943.hp1 NA18966.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0068 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0375 a0001c0001t0001g0381 a0001c0001t0003g0235 a0001c0001t0004g0211 a0001c0001t0012g0101	10	394	0.0254	36	c.553 others(53): Show c.553-3542_553-3541insGTATATATATATATATATATATATATAT ATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185631478	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCCCTCCCCCTCCCCCCTCCCTCCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0124 a0002c0002t0124	a0002c0002t0124g0251 a0002c0002t0124g0251	1	360	0.0028	36	c.16 others(47): Show c.1634_*1635insTCCCTCCCTCCCCCTCCCCCTCCCCCCTCCCTCC CT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1635		chr3	TogoVar
SEPTIN10_chr2_109537799_109618966	109604383	A A	AAGGGGAG others(29): Show AAGGGGAGGGGAGGGGAGGGGAGGGGCGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	404	0.0025	36	c.30+ others(51): Show c.30+9414_30+9415insCCCCCTCCCCGCCCCTCCCCTCCCCTCCCC TCCCCT	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	1/10			chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241355820	C C	CCCCGCCC others(29): Show CCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	408	0.0025	36	c.38 others(47): Show c.3883_*3884insCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCT AG	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1794		chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241355881	G G	GCCCAGGA others(29): Show GCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	408	0.0025	36	c.39 others(47): Show c.3944_*3945insCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCC CC	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1855		chr2	TogoVar
SEPTIN9_chr17_77276499_77505593	77353934	A A	ACCCGAGG others(29): Show ACCCGAGGCAGGTATAGTCCGTGAGACAGATCCCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0061 a0002c0002t0015g0061	1	150	0.0067	36	c.76+ others(53): Show c.76+46738_76+46773dupCCCGAGGCAGGTATAGTCCGTGAGACAG ATCCCTCT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77485100	T T	TGTGGTGA others(29): Show TGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0002 a0002c0002t0043g0002	1	150	0.0067	36	c.914 others(53): Show c.914-2315_914-2280dupGTGGGTGGTGGTGGTGATGTGGGTGGTG GTGGTGAT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77353934	A A	ACCCGAGG others(29): Show ACCCGAGGCAGGTATAGTCCGTGAGACAGATCCCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0032 a0002c0002t0009g0032	1	158	0.0063	36	c.22+ others(53): Show c.22+33587_22+33622dupCCCGAGGCAGGTATAGTCCGTGAGACAG ATCCCTCT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485100	T T	TGTGGTGA others(29): Show TGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0124 a0002c0002t0028g0124	1	158	0.0063	36	c.860 others(53): Show c.860-2315_860-2280dupGTGGGTGGTGGTGGTGATGTGGGTGGTG GTGGTGAT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0231 a0001c0001t0047g0231	1	368	0.0027	36	c.92 others(47): Show c.9279_*9280insATATATATATATATATATATTTTTTTTTTTTTTT TT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19081.hp1 NA19066.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0005 a0001c0001t0009g0015 a0001c0001t0004g0005 a0001c0001t0009g0015	2	368	0.0054	36	c.92 others(47): Show c.9279_*9280insATATATATATATATATATATATTTTTTTTTTTTT TT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01358.hp2 others(2): Show HG00438.hp1 HG00642.hp1 HG01358.hp2 NA18956.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0027	a0001c0001t0002g0002 a0001c0001t0005g0014 a0001c0001t0007g0078 others(1): Show a0001c0001t0002g0002 a0001c0001t0005g0014 a0001c0001t0007g0078 a0001c0001t0027g0227	5	368	0.0136	36	c.92 others(47): Show c.9279_*9280insATATATATATATATATATATATATATATTTTTTT TT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	368	0.0027	36	c.92 others(47): Show c.9279_*9280insGTATATATATATATATATATATATATATATTTTT TT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG03710.hp2 NA20752.hp2 HG01993.hp1 HG03710.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0028 a0001c0001t0002 a0001c0001t0007 a0001c0001t0028	a0001c0001t0002g0190 a0001c0001t0007g0198 a0001c0001t0028g0037 a0001c0001t0002g0190 a0001c0001t0007g0198 a0001c0001t0028g0037	3	368	0.0082	36	c.92 others(47): Show c.9279_*9280insATATATATATATATATATATATATATATATTTTT TT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 NA19002.hp1 NA19002.hp2 HG01109.hp2 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0097 a0001c0001t0005 a0001c0001t0009 a0001c0001t0097	a0001c0001t0005g0014 a0001c0001t0009g0015 a0001c0001t0097g0189 a0001c0001t0005g0014 a0001c0001t0009g0015 a0001c0001t0097g0189	3	368	0.0082	36	c.92 others(47): Show c.9279_*9280insATATATATATATATATATATATATATATATATTT TT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERHL2_chr22_42548956_42579382	42571538	G G	GCCCCCCC others(29): Show GCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	432	0.0023	36	c.731 others(51): Show c.731+337_731+338insCCCCCCCCCCCCCCCCCCCCCTCCCCCCCC CCCCCC	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC2_chr1_31408213_31439678	31431831	A A	ATAGGGTG others(29): Show ATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0046 a0001c0001t0011g0046	1	376	0.0027	36	c.101 others(55): Show c.1014-1119_1014-1118insTTAGGGTGGTTAGGGTGGTTAGGGTG GATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431841	T T	TAGGGTGG others(29): Show TAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0253 a0001c0003t0004g0253	1	376	0.0027	36	c.101 others(55): Show c.1014-1119_1014-1118insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431953	G G	GTGGATAG others(29): Show GTGGATAGGGTGGATAGGGTGGATAGGATGGATAGGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0146 a0003c0007t0002g0146	1	376	0.0027	36	c.101 others(55): Show c.1014-1011_1014-1010insATAGGGTGGATAGGGTGGATAGGATG GATAGGATGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432155	A A	AGAGGGTG others(29): Show AGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0283 a0002c0002t0001g0283	1	376	0.0027	36	c.101 others(53): Show c.1014-812_1014-811insGAGGGTGGAGAGGGTGGAGAGGGTGGAT AGGGTGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC5_chr5_80133727_80261048	80181414	T T	TATTGTGT others(29): Show TATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA19087.hp2 HG04199.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0071 a0001c0010t0005 a0001c0002t0071 a0001c0010t0005	a0001c0002t0071g0037 a0001c0010t0005g0223 a0001c0002t0071g0037 a0001c0010t0005g0223	2	286	0.0070	36	c.196 others(53): Show c.196-3351_196-3350insCACACACACACACACACACACACACACA CACACAAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	2/11			chr5	TogoVar
SERPINI1_chr3_167730721_167830569	167759400	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	232	0.0043	36	c.-19 others(55): Show c.-19+23598_-19+23599insATATATATATATATATATATATATAT ATATATATAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167772864	C C	CTCTCTCT others(29): Show CTCTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	232	0.0043	36	c.-18 others(55): Show c.-18-16246_-18-16245insCTCTCTATATATATATATATATATAT ATATATATAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03491.hp1 HG03492.hp2 others(3): Show HG02647.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 NA18945.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0090 others(2): Show a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0090 a0001c0001t0008g0091 a0001c0001t0008g0092	6	438	0.0137	36	c.-17 others(55): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SESN3_chr11_95160513_95236202	95167475	C C	CCCATATA others(29): Show CCCATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0068 a0001c0002t0042g0068	1	392	0.0026	36	c.57 others(47): Show c.5779_*5780insATATATATATATATATATATATATATATATATAT GG	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	10/10	5779		chr11	TogoVar
SESN3_chr11_95160513_95236202	95195384	A A	ATTGAAAA others(29): Show ATTGAAAAGAAGCAACTTAAACTCAATTTCATTTGTG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	392	0.0026	36	c.79- others(51): Show c.79-1898_79-1863dupCACAAATGAAATTGAGTTTAAGTTGCTTCT TTTCAA	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	1/9			chr11	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03492.hp1 HG02809.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0090 a0001c0001t0001g0010 a0001c0001t0001g0090	2	290	0.0069	36	c.676 others(53): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar

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Search Results (Total: 8848 hits)