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
MANBA_chr4_102625770_102765968	102682096	G G	GAGATCAC others(26): Show GAGATCACGCCATTGCACTCCAGCCTAGGTAACA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	280	0.0036	33	c.960 others(50): Show c.960+7445_960+7477dupTGTTACCTAGGCTGGAGTGCAATGGCGT GATCT	MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding	7/16			chr4	TogoVar
MAP1S_chr19_17714480_17739513	17721171	A A	AAGCCGTG others(26): Show AAGCCGTGACCCAGTGATAACCCCCTCAGTCCTC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	290	0.0035	33	c.220 others(48): Show c.220+138_220+170dupCGTGACCCAGTGATAACCCCCTCAGTCCTC AGC	MAP1S	ENSG00000130479.11	transcript	ENST00000324096.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAP2K5_chr15_67537703_67812114	67590446	C C	CTCTCTCT others(26): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	278	0.0036	33	c.432 others(50): Show c.432-2480_432-2479insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21			chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67711492	C C	CACAAGGG others(26): Show CACAAGGGAAAAAAGCCATTATCCCCTCTCTTTA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	278	0.0036	33	c.104 others(52): Show c.1044+8086_1044+8118dupCAAGGGAAAAAAGCCATTATCCCCTC TCTTTAA	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2_chr2_209419047_209739112	209434860	A A	ATGTTATA others(26): Show ATGTTATATATATGTTATATATATGTTATATATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0010 a0004c0007t0010	a0004c0007t0010g0148 a0004c0007t0010g0148	1	148	0.0068	33	c.-22 others(54): Show c.-222+10616_-222+10617insGTGTTATATATATGTTATATATAT GTTATATAT	MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K13_chr3_185358136_185494094	185454242	G G	GATATATA others(26): Show GATATATATATGATACATATATGAGATATATATC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	278	0.0036	33	c.127 others(52): Show c.1278+2855_1278+2856insATGATACATATATGAGATATATATCA TATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185454282	G G	GATATATA others(26): Show GATATATATATGAGATATATATCATATATATGAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0228 a0001c0002t0056g0228	1	278	0.0036	33	c.127 others(52): Show c.1278+2895_1278+2896insATGAGATATATATCATATATATGATA TATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185454440	A A	AGATATAT others(26): Show AGATATATATGAGATATATATATGAGATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	278	0.0036	33	c.127 others(52): Show c.1278+3054_1278+3055insGAGATATATATATGAGATATATATGA TATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185454733	T T	TGAGATAT others(26): Show TGAGATATATATATCATATATATGATATATATGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	278	0.0036	33	c.127 others(52): Show c.1278+3340_1278+3341insGATATATATATCATATATATGATATA TATGAGA	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455310	G G	GATATATA others(26): Show GATATATATGAGATATATATGAGATATATATGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00733.hp2 others(57): Show HG00140.hp1 HG00408.hp2 HG00733.hp2 HG01069.hp2 HG01070.hp1 HG01168.hp1 HG01168.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp2 HG01978.hp1 HG02040.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02602.hp2 HG02647.hp1 HG02717.hp1 HG02970.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp2 NA18944.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA19003.hp1 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19074.hp2 NA19077.hp2 NA19089.hp1 NA19240.hp1 NA20752.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0039 a0001c0001t0046 a0001c0001t0051 a0001c0001t0053 a0001c0001t0057 a0001c0001t0058 a0001c0002t0017 a0001c0002t0019 a0001c0002t0055 a0001c0007t0001 a0010c0009t0007	a0001c0001t0001g0053 a0001c0001t0001g0081 a0001c0001t0001g0089 others(57): Show a0001c0001t0001g0053 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0131 a0001c0001t0001g0176 a0001c0001t0002g0083 a0001c0001t0002g0129 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0191 a0001c0001t0003g0030 a0001c0001t0003g0084 a0001c0001t0003g0102 a0001c0001t0003g0109 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0154 a0001c0001t0003g0166 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0220 a0001c0001t0003g0236 a0001c0001t0003g0267 a0001c0001t0003g0270 a0001c0001t0004g0120 a0001c0001t0004g0142 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0175 a0001c0001t0005g0264 a0001c0001t0007g0048 a0001c0001t0007g0127 a0001c0001t0007g0130 a0001c0001t0007g0158 a0001c0001t0014g0045 a0001c0001t0014g0235 a0001c0001t0018g0077 a0001c0001t0018g0078 a0001c0001t0022g0085 a0001c0001t0023g0216 a0001c0001t0027g0231 a0001c0001t0039g0173 a0001c0001t0046g0126 a0001c0001t0051g0196 a0001c0001t0053g0181 a0001c0001t0057g0172 a0001c0001t0058g0103 a0001c0002t0017g0132 a0001c0002t0019g0111 a0001c0002t0055g0201 a0001c0007t0001g0097 a0001c0007t0001g0098 a0010c0009t0007g0034	60	278	0.2158	33	c.127 others(52): Show c.1278+3936_1278+3937insGATATATATGATATATATATGAGATA TATATGA	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455310	G G	GATATATA others(26): Show GATATATATGAGATATATATGATATATATATGAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0274 a0001c0001t0004g0274	1	278	0.0036	33	c.127 others(52): Show c.1278+3943_1278+3944insATGATATATATATGAGATATATATGA TATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185483711	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTGGTTTGTTGGTTTGGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 NA18950.hp1 HG02622.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0057 a0001c0002t0056 a0001c0001t0057 a0001c0002t0056	a0001c0001t0057g0172 a0001c0002t0056g0228 a0001c0001t0057g0172 a0001c0002t0056g0228	2	278	0.0072	33	c.12 others(44): Show c.1271_*1272insGGTTTGTTGGTTTGGTTTTTTTTTTTTTTTTTT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	14/14	1272	INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGGAGAGA others(26): Show GGGAGAGAGGGGGAGAGAGGGGGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02630.hp2 HG02922.hp2 HG01081.hp2 HG02630.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0017 a0002c0002 a0002c0003 a0002c0017	a0002c0002t0002 a0002c0003t0005 a0002c0017t0002 a0002c0002t0002 a0002c0003t0005 a0002c0017t0002	a0002c0002t0002g0131 a0002c0003t0005g0023 a0002c0017t0002g0145 a0002c0002t0002g0131 a0002c0003t0005g0023 a0002c0017t0002g0145	3	163	0.0184	33	c.525 others(50): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCTCTCTCCCCCTC TCTCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K19_chr2_134959491_135052447	134997817	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	334	0.0030	33	c.574 others(48): Show c.574+920_574+921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	8/12			chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG04199.hp2 HG00741.hp2 HG04199.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0005 a0001c0001t0002 a0003c0005t0005	a0001c0001t0002g0161 a0003c0005t0005g0172 a0001c0001t0002g0161 a0003c0005t0005g0172	2	334	0.0060	33	c.160 others(52): Show c.160-35376_160-35375insATATATATATATATATATATATATAT ATATATT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0175 a0003c0005t0005g0175	1	334	0.0030	33	c.160 others(52): Show c.160-35376_160-35375insATATATATATATATATATATATATAT ATATTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K21_chr1_233322724_233390148	233339398	T T	TCTCCTCC others(26): Show TCTCCTCCTTCTCCTCCTCCTCCTCCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01175.hp2 HG02572.hp2 others(3): Show HG00621.hp2 HG01175.hp2 HG02572.hp2 HG02976.hp2 HG03710.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0003t0002 a0001c0001t0016 a0001c0003t0002	a0001c0001t0016g0220 a0001c0001t0016g0221 a0001c0003t0002g0272 others(3): Show a0001c0001t0016g0220 a0001c0001t0016g0221 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0275 a0001c0003t0002g0301	6	372	0.0161	33	c.806 others(50): Show c.806-7036_806-7035insTCTCCTCCTCCTCCTCCTCCTTCTCCTC CTCCT	MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K5_chr6_136552046_136797477	136585469	T T	TTTTCTTT others(26): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA20300.hp1 HG01257.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0002 a0001c0007t0002 a0001c0006t0002 a0001c0007t0002	a0001c0006t0002g0139 a0001c0007t0002g0037 a0001c0006t0002g0139 a0001c0007t0002g0037	2	162	0.0124	33	c.322 others(52): Show c.3226-1730_3226-1729insGAAAGAAAGAAAGAAAGAAAGAAAGA AAAGAAA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	23/29			chr6	TogoVar
MAP3K8_chr10_30429184_30466833	30432974	G G	GAGAGAGA others(26): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG00738.hp1 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0160 a0001c0002t0001g0004 a0001c0002t0001g0160	2	386	0.0052	33	c.-16 others(44): Show c.-1659_-1658insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1209		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432976	G G	GAGAGAGA others(26): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01255.hp1 HG01255.hp2 others(7): Show HG01070.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01361.hp1 HG02109.hp2 HG02132.hp2 HG02698.hp1 HG02723.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0086 a0001c0002t0001g0003 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0086 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0002t0001g0158 a0001c0002t0001g0170	10	386	0.0259	33	c.-16 others(44): Show c.-1657_-1656insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1207		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GAGAGAGA others(26): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	386	0.0026	33	c.-16 others(44): Show c.-1655_-1654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MAP4K1_chr19_38582641_38622953	38584653	T T	TATCCTGG others(26): Show TATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	348	0.0029	33	c.30 others(44): Show c.3062_*3094dupGGGGGGCACAGGCAGAGGGGTCAGGGCCAGGAT	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding		2987		chr19	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	232	0.0043	33	c.96+ others(50): Show c.96+20911_96+20912insATATATATATATATATATATATATATAT ATTTT	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4_chr3_47845695_48021416	47997326	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	232	0.0043	33	c.223 others(50): Show c.223+1311_223+1312insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	2/20			chr3	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(26): Show GAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp1 NA18906.hp1 HG00408.hp1 HG02015.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0072 a0002c0002t0005g0008 a0002c0002t0005g0020 a0001c0001t0001g0072 a0002c0002t0005g0008 a0002c0002t0005g0020	3	248	0.0121	33	c.68- others(50): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCCTTCTTCTTC TTCTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(26): Show GAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18906.hp2 NA18942.hp2 others(3): Show HG02896.hp2 NA18906.hp2 NA18942.hp2 NA18994.hp2 NA19056.hp2 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0013 a0002c0002t0003 a0001c0001t0001 a0001c0001t0013 a0002c0002t0003	a0001c0001t0001g0029 a0001c0001t0001g0158 a0001c0001t0013g0179 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0158 a0001c0001t0013g0179 a0002c0002t0003g0017 a0002c0002t0003g0024 a0002c0002t0003g0049	6	248	0.0242	33	c.68- others(50): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCCTTCTTC TTCTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(26): Show GAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19030.hp1 NA19063.hp1 others(2): Show NA18982.hp2 NA19030.hp1 NA19063.hp1 NA19090.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0097 a0001c0001t0001g0175 a0001c0001t0001g0176 others(2): Show a0001c0001t0001g0097 a0001c0001t0001g0175 a0001c0001t0001g0176 a0002c0002t0003g0012 a0002c0002t0003g0058	5	248	0.0202	33	c.68- others(50): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCCTTC TTCTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGG others(26): Show GAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19000.hp2 NA18980.hp1 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0022 a0002c0002t0003g0051 a0002c0002t0003g0022 a0002c0002t0003g0051	2	248	0.0081	33	c.68- others(50): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCTTCC TTCTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0072 a0003c0004t0006g0072	1	328	0.0031	33	c.114 others(52): Show c.114+11389_114+11390insAAAAAAAAAAATATATATATATATAT ATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0156 a0003c0004t0003g0156	1	328	0.0031	33	c.114 others(52): Show c.114+11389_114+11390insAAAAAAATATATATATATATATATAT ATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPT_chr17_45889554_46033334	46017440	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0194 a0001c0001t0005g0194	1	253	0.0040	33	c.217 others(52): Show c.2174-1148_2174-1147insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	280	0.0036	33	c.210 others(50): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar
MARCHF1_chr4_163519718_164389019	164269692	T T	TGTTATAC others(26): Show TGTTATACATTGACATTGTTATCATTAAAGATAG	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0097 a0001c0002t0002g0097	1	102	0.0098	33	c.-32 others(56): Show c.-323+114177_-323+114178insCTATCTTTAATGATAACAATGT CAATGTATAAC	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02135.hp2 HG02257.hp1 others(2): Show HG00621.hp1 HG02135.hp2 HG02257.hp1 NA18998.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0068 a0001c0001t0088	a0001c0001t0002g0018 a0001c0001t0004g0119 a0001c0001t0009g0219 others(2): Show a0001c0001t0002g0018 a0001c0001t0004g0119 a0001c0001t0009g0219 a0001c0001t0068g0174 a0001c0001t0088g0052	5	296	0.0169	33	c.37 others(44): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126866885	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0008	1	296	0.0034	33	c.37 others(44): Show c.3747_*3748insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		828		chr5	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19062.hp1 NA19001.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0080 a0001c0001t0001g0052 a0001c0001t0001g0080	2	348	0.0058	33	c.111 others(50): Show c.1111-336_1111-335insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	288	0.0035	33	c.500 others(50): Show c.500+6272_500+6304dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST4_chr5_66591393_67174593	66606859	A A	ATTAAATA others(26): Show ATTAAATATTAAATGAGTATATGAATTTACTCAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0094 a0005c0006t0001g0094	1	108	0.0093	33	c.363 others(50): Show c.363+9900_363+9932dupTTACTCATTTAAATATTAAATGAGTATA TGAAT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66606937	A A	ATGAGTAT others(26): Show ATGAGTATATGAATTTACTCATTTAAATATTAAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG06807.hp2 others(2): Show HG02257.hp1 HG02280.hp2 HG06807.hp2 NA18522.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0021 others(1): Show a0001c0002 a0001c0003 a0001c0021 a0002c0005	a0001c0002t0001 a0001c0003t0001 a0001c0021t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0021t0001 a0002c0005t0010	a0001c0002t0001g0097 a0001c0003t0001g0095 a0001c0003t0001g0098 others(2): Show a0001c0002t0001g0097 a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0021t0001g0096 a0002c0005t0010g0099	5	108	0.0463	33	c.363 others(50): Show c.363+9932_363+9933insTTACTCATTTAAATATTAACTGAGTATA TGAAT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	422	0.0024	33	c.-34 others(48): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MBD3L3_chr19_7051207_7063676	7053187	A A	AAATATAT others(26): Show AAATATATAATTTATATATAATTATAAATACATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0029 a0002c0002t0003g0029	1	288	0.0035	33	c.31 others(44): Show c.3134_*3135insAATGTATTTATAATTATATATAAATTATATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3019		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7036214	T T	TAATTATA others(26): Show TAATTATATATAAATTATATATAATGTATTTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	262	0.0038	33	c.16 others(44): Show c.1646_*1647insTATAAATACATTATATATAATTTATATATAATT	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1534		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7036245	A A	ATAATTAT others(26): Show ATAATTATATATAAATTATATATAATGTATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	262	0.0038	33	c.16 others(44): Show c.1615_*1616insATAAATACATTATATATAATTTATATATAATTA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1503		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7036292	T T	TTATATAT others(26): Show TTATATATAATGTATTTATAATTATATATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	262	0.0038	33	c.15 others(44): Show c.1568_*1569insTATTTATATATAATTATAAATACATTATATATA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1456		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7036227	A A	ATTATATA others(26): Show ATTATATATAATGTATTTATAATTATATATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	249	0.0040	33	c.33 others(44): Show c.3333_*3334insTTATATATAATGTATTTATAATTATATATAAAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		3217		chr19	TogoVar
MBIP_chr14_36293564_36325637	36294279	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	312	0.0032	33	c.48 others(44): Show c.4803_*4804insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding		4284		chr14	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03239.hp1 HG03239.hp2 others(1): Show HG02809.hp2 HG03239.hp1 HG03239.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0217 a0001c0001t0002g0145	4	254	0.0158	33	c.174 others(52): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97291917	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	254	0.0039	33	c.174 others(52): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8			chr13	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(26): Show CCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01884.hp2 HG01981.hp1 others(13): Show HG00408.hp1 HG01884.hp2 HG01981.hp1 HG02486.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp2 NA18522.hp1 NA18940.hp1 NA18941.hp1 NA18968.hp2 NA18994.hp1 NA19004.hp2 NA19057.hp1 NA19074.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0012 a0001c0001t0020 a0001c0001t0029 others(7): Show a0001c0001t0012 a0001c0001t0020 a0001c0001t0029 a0001c0002t0001 a0001c0002t0007 a0001c0002t0012 a0001c0002t0019 a0001c0002t0030 a0001c0002t0043 a0002c0005t0021	a0001c0001t0012g0006 a0001c0001t0020g0301 a0001c0001t0029g0394 others(12): Show a0001c0001t0012g0006 a0001c0001t0020g0301 a0001c0001t0029g0394 a0001c0002t0001g0088 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0106 a0001c0002t0001g0176 a0001c0002t0001g0183 a0001c0002t0007g0347 a0001c0002t0012g0012 a0001c0002t0019g0286 a0001c0002t0030g0093 a0001c0002t0043g0218 a0002c0005t0021g0002	16	396	0.0404	33	c.52 others(44): Show c.5272_*5273insAAAAGAAAAGAAAAGAAGAAAAGAAAAGAAAAG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3678		chr18	TogoVar
MBP_chr18_76973833_77137783	77073685	G G	GGATCATA others(26): Show GGATCATAGTACTGTAAACGATCCCTGGCTTGCA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0331 a0001c0001t0046g0331	1	396	0.0025	33	c.52- others(48): Show c.52-7301_52-7300insTGCAAGCCAGGGATCGTTTACAGTACTATG ATC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar

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Search Results (Total: 4928 hits)