Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAM193B_chr5_177514789_177559563	177554489	A A	ACGCCGCG others(25): Show ACGCCGCGCCGCCGCCGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG02698.hp1 HG06807.hp1 others(1): Show HG00140.hp2 HG02698.hp1 HG06807.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0048 a0001c0001t0049 a0001c0001t0037 a0001c0001t0048 a0001c0001t0049	a0001c0001t0037g0247 a0001c0001t0037g0248 a0001c0001t0048g0246 others(1): Show a0001c0001t0037g0247 a0001c0001t0037g0248 a0001c0001t0048g0246 a0001c0001t0049g0245	4	370	0.0108	32	c.-32 others(39): Show c.-32_-31insGCGGCGGCGGCGGCGGCGGCGGCGGCGCGGCG	FAM193B	ENSG00000146067.17	transcript	ENST00000514747.6	protein_coding	1/9	32		chr5	TogoVar
FAM200A_chr7_99541300_99557114	99553068	C C	CATATATA others(25): Show CATATATATATATACACACATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 NA18995.hp2 NA19009.hp1 others(2): Show HG01433.hp1 NA18995.hp2 NA19009.hp1 NA19056.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0002 a0001c0001t0001g0013	5	378	0.0132	32	c.-13 others(43): Show c.-1315_-1314insATATATATATATATGTGTGTATATATATATAT	FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding		955		chr7	TogoVar
FAM20A_chr17_68530116_68606367	68571999	T T	TATATATA others(25): Show TATATATAATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	380	0.0026	32	c.405 others(51): Show c.405-16257_405-16256insTATATATATATATATATATATATATT ATATAT	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM20A_chr17_68530116_68606367	68575421	A A	ATATATAT others(25): Show ATATATATTATATATTTTATATATTATATATTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0031 a0001c0004t0003g0031	1	380	0.0026	32	c.405 others(51): Show c.405-19710_405-19679dupAAATATATAATATATAAAATATATAA TATATA	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM20A_chr17_68530116_68606367	68581350	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp2 HG01433.hp1 others(1): Show HG00673.hp1 HG01099.hp2 HG01433.hp1 NA18997.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0008 others(1): Show a0001c0001 a0002c0003 a0002c0008 a0003c0006	a0001c0001t0005 a0002c0003t0001 a0002c0008t0001 others(1): Show a0001c0001t0005 a0002c0003t0001 a0002c0008t0001 a0003c0006t0001	a0001c0001t0005g0357 a0002c0003t0001g0343 a0002c0008t0001g0040 others(1): Show a0001c0001t0005g0357 a0002c0003t0001g0343 a0002c0008t0001g0040 a0003c0006t0001g0348	4	380	0.0105	32	c.404 others(51): Show c.404+18881_404+18912dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM210A_chr18_13658347_13731558	13713725	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0063 a0001c0001t0021g0063	1	326	0.0031	32	c.-29 others(51): Show c.-29+12603_-29+12604insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	1/3			chr18	TogoVar
FAM222A_chr12_109708825_109775495	109755414	T T	TGCCTCCC others(25): Show TGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02080.hp2 HG02132.hp2 others(5): Show HG00438.hp1 HG02080.hp2 HG02132.hp2 NA18949.hp1 NA18957.hp1 NA19057.hp1 NA19075.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0019 a0001c0001t0001 a0001c0001t0018 a0001c0001t0019	a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0119 others(5): Show a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0165 a0001c0001t0001g0184 a0001c0001t0018g0071 a0001c0001t0019g0082	8	366	0.0219	32	c.82+ others(49): Show c.82+11198_82+11229dupTCAAGTGATTCTCCTGCCTCAGCCTCCC GAGT	FAM222A	ENSG00000139438.6	transcript	ENST00000538780.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18950.hp1 NA18946.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0234 a0001c0002t0003g0183 a0001c0002t0002g0234 a0001c0002t0003g0183	2	276	0.0073	32	c.-40 others(51): Show c.-40-12013_-40-12012insAAAAAATATATATATATATATATATA TATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0160 a0001c0002t0002g0161	2	276	0.0073	32	c.-40 others(51): Show c.-40-12013_-40-12012insAAAAAAAATATATATATATATATATA TATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM227A_chr22_38573118_38661392	38613312	C C	CATATAAT others(25): Show CATATAATATATATCATATATAATATATATCAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG01891.hp2 others(40): Show HG00408.hp2 HG00673.hp2 HG01891.hp2 HG02015.hp2 HG02083.hp2 HG02145.hp1 HG02717.hp2 HG02896.hp2 HG03139.hp2 HG03453.hp1 HG03516.hp2 HG04184.hp1 NA18943.hp1 NA18944.hp1 NA18952.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA19012.hp1 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19076.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0005 a0002c0002 a0002c0004 a0003c0005	a0002c0002t0004 a0002c0002t0011 a0002c0002t0015 others(8): Show a0002c0002t0004 a0002c0002t0011 a0002c0002t0015 a0002c0002t0020 a0002c0002t0025 a0002c0002t0026 a0002c0002t0047 a0002c0002t0048 a0002c0002t0049 a0002c0004t0046 a0003c0005t0004	a0002c0002t0004g0171 a0002c0002t0004g0172 a0002c0002t0004g0178 others(40): Show a0002c0002t0004g0171 a0002c0002t0004g0172 a0002c0002t0004g0178 a0002c0002t0004g0180 a0002c0002t0004g0182 a0002c0002t0004g0183 a0002c0002t0004g0184 a0002c0002t0004g0185 a0002c0002t0004g0190 a0002c0002t0004g0191 a0002c0002t0004g0193 a0002c0002t0004g0200 a0002c0002t0004g0201 a0002c0002t0004g0203 a0002c0002t0004g0204 a0002c0002t0004g0211 a0002c0002t0004g0212 a0002c0002t0004g0213 a0002c0002t0004g0214 a0002c0002t0011g0173 a0002c0002t0011g0175 a0002c0002t0011g0198 a0002c0002t0011g0199 a0002c0002t0011g0205 a0002c0002t0011g0206 a0002c0002t0011g0208 a0002c0002t0015g0177 a0002c0002t0015g0187 a0002c0002t0015g0188 a0002c0002t0015g0189 a0002c0002t0015g0209 a0002c0002t0020g0174 a0002c0002t0020g0186 a0002c0002t0020g0197 a0002c0002t0025g0192 a0002c0002t0025g0194 a0002c0002t0026g0195 a0002c0002t0026g0196 a0002c0002t0047g0202 a0002c0002t0048g0176 a0002c0002t0049g0207 a0002c0004t0046g0210 a0003c0005t0004g0179	43	328	0.1311	32	c.103 others(51): Show c.1039-5837_1039-5836insATGATATATATTATATATGATATATA TTATAT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	11/16			chr22	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0316 a0001c0001t0003g0316	1	328	0.0031	32	c.727 others(47): Show c.727-589_727-588insATATATATATATTTTTTTTTTTTTTTTTTT TT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16			chr22	TogoVar
FAM227B_chr15_49321970_49625818	49422118	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	294	0.0034	32	c.101 others(53): Show c.1013-50720_1013-50719insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM78B_chr1_166064299_166172001	166094003	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	318	0.0031	32	c.264 others(51): Show c.264-23272_264-23241dupCACACACACACACACACACACACACA CACACA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166109882	G G	GTATATAT others(25): Show GTATATATATATATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0197 a0001c0002t0003g0197	1	318	0.0031	32	c.264 others(51): Show c.264-39120_264-39119insTATATATATATATATATACATATATA TATATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166109882	G G	GTATATAT others(25): Show GTATATATATATATGTATATATGTATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA19003.hp1 NA19060.hp2 others(2): Show HG02735.hp1 NA19003.hp1 NA19060.hp2 NA19063.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0203 a0001c0002t0003g0204 a0001c0002t0003g0283 others(2): Show a0001c0001t0001g0203 a0001c0002t0003g0204 a0001c0002t0003g0283 a0001c0002t0003g0289 a0001c0002t0003g0291	5	318	0.0157	32	c.264 others(51): Show c.264-39120_264-39119insTATATATATACATATATACATATATA TATATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166109882	G G	GTATATAT others(25): Show GTATATATATATATGTATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0208 a0001c0002t0003g0208	1	318	0.0031	32	c.264 others(51): Show c.264-39120_264-39119insTATATATACACATATATACATATATA TATATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166109882	G G	GTATATAT others(25): Show GTATATATATATGTATATATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	318	0.0031	32	c.264 others(51): Show c.264-39120_264-39119insTATATATATATACATATATACATATA TATATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM86B2_chr8_12419421_12441400	12424721	T T	TGGGTTGT others(25): Show TGGGTTGTGAAGGGTCTCAAGTCCAAGTGAGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG01433.hp1 HG01433.hp2 others(19): Show HG00323.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG02257.hp2 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02895.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18950.hp2	a0002 a0003 a0007 others(6): Show a0002 a0003 a0007 a0009 a0012 a0013 a0014 a0015 a0017	a0002c0002 a0002c0007 a0003c0004 others(10): Show a0002c0002 a0002c0007 a0003c0004 a0003c0019 a0003c0020 a0007c0009 a0009c0023 a0009c0024 a0012c0018 a0013c0017 a0014c0016 a0015c0014 a0017c0022	a0002c0002t0002 a0002c0002t0006 a0002c0007t0002 others(12): Show a0002c0002t0002 a0002c0002t0006 a0002c0007t0002 a0003c0004t0009 a0003c0004t0017 a0003c0019t0007 a0003c0020t0019 a0007c0009t0003 a0009c0023t0007 a0009c0024t0007 a0012c0018t0002 a0013c0017t0003 a0014c0016t0003 a0015c0014t0002 a0017c0022t0018	a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(17): Show a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0006g0002 a0002c0002t0006g0030 a0002c0007t0002g0024 a0002c0007t0002g0025 a0003c0004t0009g0004 a0003c0004t0017g0032 a0003c0019t0007g0020 a0003c0020t0019g0013 a0007c0009t0003g0006 a0007c0009t0003g0010 a0009c0023t0007g0019 a0009c0024t0007g0014 a0012c0018t0002g0026 a0013c0017t0003g0007 a0014c0016t0003g0011 a0015c0014t0002g0029 a0017c0022t0018g0017	22	50	0.4400	32	c.11 others(43): Show c.1136_*1167dupCCCTCACTTGGACTTGAGACCCTTCACAACCC	FAM86B2	ENSG00000145002.13	transcript	ENST00000262365.9	protein_coding	8/8	1167		chr8	TogoVar
FAM91A1_chr8_123763439_123820452	123792067	C C	CGGGAGGC others(25): Show CGGGAGGCTGAGGCAGGAGAATTGCTTGAACCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0196 a0001c0003t0020g0196	1	338	0.0030	32	c.141 others(51): Show c.1411+2335_1411+2366dupCAGGAGAATTGCTTGAACCTGGGAGG CTGAGG	FAM91A1	ENSG00000176853.16	transcript	ENST00000334705.12	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM9B_chrX_9019232_9039127	9021333	T T	TTATATTA others(25): Show TTATATTATATATATTATATATAATATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	258	0.0039	32	c.40 others(43): Show c.4075_*4076insTATAATATATTATATATAATATATATAATATA	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2898		chrX	TogoVar
FANCD2_chr3_10021437_10106932	10069493	C C	CTCCCCCT others(25): Show CTCCCCCTCCCCCTCCCCCTCCCCCTCTCCACG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0003 a0009c0010t0003	a0009c0010t0003g0159 a0009c0010t0003g0159	1	242	0.0041	32	c.249 others(51): Show c.2494+2176_2494+2177insTCCCCCTCCCCCTCCCCCTCCCCCTC TCCACG	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43			chr3	TogoVar
FANK1_chr10_125891564_126014592	125991250	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp2 HG02886.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0132 a0001c0001t0002g0051 a0001c0001t0002g0132	2	370	0.0054	32	c.316 others(49): Show c.316+2603_316+2604insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FAR2_chr12_29144278_29340616	29308707	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	326	0.0031	32	c.724 others(47): Show c.724-478_724-477insTATATATATATATATATATATATATATATA TA	FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
FAR2_chr12_29144278_29340616	29331331	A A	AGAGAGAT others(25): Show AGAGAGATAGAGGATGTGGGATCGTGATGGGTG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0102 a0003c0007t0001g0102	1	326	0.0031	32	c.125 others(51): Show c.1258-1269_1258-1268insGAGAGATAGAGGATGTGGGATCGTGA TGGGTG	FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	10/11			chr12	TogoVar
FARP1_chr13_98138094_98460176	98256948	G G	GGTATATA others(25): Show GGTATATATATATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	218	0.0046	32	c.171 others(51): Show c.171+43535_171+43536insGTATATATATATATATATATATATAT ATGTAT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26			chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(25): Show AACACACACACACACACACACACAGACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0134 a0001c0002t0012g0134	1	218	0.0046	32	c.141 others(51): Show c.1414+5962_1414+5963insGACACACACACACACACACACACACA CACACA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP2_chr2_241351285_241499841	241366125	A A	ACACGTAT others(25): Show ACACGTATATATATATACATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	378	0.0027	32	c.-24 others(49): Show c.-24-6959_-24-6958insCACGTATATATATATACATATATATATA TACG	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26			chr2	TogoVar
FARP2_chr2_241351285_241499841	241366125	A A	ATACGTAT others(25): Show ATACGTATATATATATACATATATATATATACG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG01123.hp1 others(30): Show HG00099.hp1 HG01106.hp1 HG01123.hp1 HG01255.hp2 HG01928.hp1 HG02055.hp2 HG02132.hp2 HG02698.hp1 HG02735.hp1 HG02965.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03688.hp2 HG04184.hp2 HG04199.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18963.hp2 NA18967.hp2 NA18987.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19060.hp1 NA19074.hp1 NA20905.hp1 NA21309.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0015 a0020	a0001c0003 a0003c0005 a0007c0013 others(2): Show a0001c0003 a0003c0005 a0007c0013 a0015c0029 a0020c0031	a0001c0003t0001 a0001c0003t0008 a0003c0005t0001 others(3): Show a0001c0003t0001 a0001c0003t0008 a0003c0005t0001 a0007c0013t0001 a0015c0029t0001 a0020c0031t0001	a0001c0003t0001g0007 a0001c0003t0001g0009 a0001c0003t0001g0010 others(30): Show a0001c0003t0001g0007 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0062 a0001c0003t0008g0061 a0003c0005t0001g0008 a0003c0005t0001g0039 a0003c0005t0001g0040 a0003c0005t0001g0041 a0003c0005t0001g0042 a0003c0005t0001g0043 a0003c0005t0001g0044 a0003c0005t0001g0045 a0003c0005t0001g0046 a0003c0005t0001g0047 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0050 a0003c0005t0001g0057 a0003c0005t0001g0059 a0007c0013t0001g0028 a0015c0029t0001g0029 a0020c0031t0001g0019	33	378	0.0873	32	c.-24 others(49): Show c.-24-6957_-24-6956insCGTATATATATATACATATATATATATA CGTA	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARP2_chr2_241351285_241499841	241366127	A A	ACGTATAT others(25): Show ACGTATATATATATACATATATATATATACGTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	378	0.0027	32	c.-24 others(49): Show c.-24-6957_-24-6956insCGTATATATATATACATATATATATATA CGTT	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26			chr2	TogoVar
FARS2_chr6_5256513_5776583	5315716	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp2 HG02257.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0148 a0001c0005t0001g0002 a0001c0001t0002g0148 a0001c0005t0001g0002	2	170	0.0118	32	c.-21 others(51): Show c.-21-52813_-21-52812insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5315726	C C	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18963.hp1 NA18950.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0002g0139 a0001c0001t0002g0144	2	170	0.0118	32	c.-21 others(51): Show c.-21-52813_-21-52812insCTTTCTTTCTTTCTTTCTTTTTTTCT TTCTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5341235	A A	ATATATAT others(25): Show ATATATATATATATAATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0011	1	170	0.0059	32	c.-21 others(51): Show c.-21-27314_-21-27313insATATATATATATAATTTTTTTTTTTT TTTTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5407043	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18964.hp2 NA21309.hp2 HG01243.hp1 NA18964.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0002g0146 a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0002g0146	3	170	0.0177	32	c.772 others(49): Show c.772+2366_772+2367insTATATATATATATATATATATATATATA TATA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5407066	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18999.hp2 HG01361.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0060 a0002c0002t0001g0049 a0002c0002t0001g0060	2	170	0.0118	32	c.772 others(49): Show c.772+2366_772+2367insTATATATATATATATATATATATATATA TAAA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	170	0.0059	32	c.905 others(49): Show c.905-5781_905-5780insATATATATATATATATATATATATATAT ATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	1	170	0.0059	32	c.905 others(49): Show c.905-5795_905-5794insGTATATATATATATATATATATATATAT ATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04204.hp1 NA18963.hp2 others(3): Show HG04115.hp1 HG04204.hp1 NA18963.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0001g0073 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0002g0105 a0001c0001t0002g0161 a0002c0002t0001g0050	6	170	0.0353	32	c.905 others(49): Show c.905-5795_905-5794insGTGTATATATATATATATATATATATAT ATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5584108	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG04199.hp2 HG04228.hp1 HG02451.hp1 HG04199.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0075 a0001c0001t0002g0130 a0002c0002t0001g0022 a0001c0001t0001g0075 a0001c0001t0002g0130 a0002c0002t0001g0022	3	170	0.0177	32	c.106 others(53): Show c.1066-29058_1066-29027dupACACACACACACACACACACACAC ACACACAC	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5717933	T T	TGGAGAGA others(25): Show TGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01257.hp2 HG01258.hp2 others(1): Show HG01255.hp2 HG01257.hp2 HG01258.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0012 a0001c0001 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0003c0012t0002 a0001c0001t0001 a0001c0001t0002 a0003c0012t0002	a0001c0001t0001g0055 a0001c0001t0002g0152 a0001c0001t0002g0153 others(1): Show a0001c0001t0001g0055 a0001c0001t0002g0152 a0001c0001t0002g0153 a0003c0012t0002g0151	4	170	0.0235	32	c.121 others(53): Show c.1218-53358_1218-53357insGGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6			chr6	TogoVar
FARS2_chr6_5256513_5776583	5717935	T T	TATAGAGA others(25): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	170	0.0059	32	c.121 others(53): Show c.1218-53355_1218-53354insTAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARSB_chr2_222561899_222661092	222605161	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0315 a0001c0001t0005g0315	1	344	0.0029	32	c.146 others(51): Show c.1463-5110_1463-5079dupGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	FARSB	ENSG00000116120.11	transcript	ENST00000281828.8	protein_coding	15/16			chr2	TogoVar
FAT1_chr4_186582794_186728856	186594676	G G	GTATATAT others(25): Show GTATATATATATATATATATATACTTGAAAGTA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0010 a0009c0010t0010	a0009c0010t0010g0184 a0009c0010t0010g0184	1	338	0.0030	32	c.131 others(53): Show c.13138+1012_13138+1013insTACTTTCAAGTATATATATATATA TATATATA	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	26/26			chr4	TogoVar
FAT1_chr4_186582794_186728856	186682526	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0081 a0081	a0081c0109 a0081c0109	a0081c0109t0048 a0081c0109t0048	a0081c0109t0048g0115 a0081c0109t0048g0115	1	338	0.0030	32	c.326 others(53): Show c.3266-18914_3266-18913insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	2/26			chr4	TogoVar
FAT2_chr5_151499092_151596331	151534968	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02698.hp1 HG02683.hp2 HG02698.hp1	a0011 a0012 a0011 a0012	a0011c0136 a0012c0018 a0011c0136 a0012c0018	a0011c0136t0004 a0012c0018t0004 a0011c0136t0004 a0012c0018t0004	a0011c0136t0004g0031 a0012c0018t0004g0142 a0011c0136t0004g0031 a0012c0018t0004g0142	2	398	0.0050	32	c.919 others(49): Show c.9194-327_9194-326insATATATATATATATATATATATATATAT ATAT	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23			chr5	TogoVar
FAT2_chr5_151499092_151596331	151534970	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03704.hp2 HG03710.hp2 others(3): Show HG01928.hp2 HG03704.hp2 HG03710.hp2 HG04115.hp1 NA18942.hp1 NA19068.hp1	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0003 a0001c0048 a0001c0049 others(3): Show a0001c0003 a0001c0048 a0001c0049 a0002c0001 a0002c0008 a0020c0028	a0001c0003t0001 a0001c0048t0021 a0001c0049t0001 others(3): Show a0001c0003t0001 a0001c0048t0021 a0001c0049t0001 a0002c0001t0002 a0002c0008t0002 a0020c0028t0001	a0001c0003t0001g0231 a0001c0048t0021g0025 a0001c0049t0001g0030 others(3): Show a0001c0003t0001g0231 a0001c0048t0021g0025 a0001c0049t0001g0030 a0002c0001t0002g0353 a0002c0008t0002g0369 a0020c0028t0001g0073	6	398	0.0151	32	c.919 others(49): Show c.9194-329_9194-328insATATATATATATATATATATATATATAT ATAT	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23			chr5	TogoVar
FAT3_chr11_92219818_92901473	92442111	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0028 a0028	a0028c0033 a0028c0033	a0028c0033t0045 a0028c0033t0045	a0028c0033t0045g0049 a0028c0033t0045g0049	1	118	0.0085	32	c.329 others(53): Show c.3293-82522_3293-82521insATATATATATATATATTTTTTTTT TTTTTTTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92553675	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0042 a0042	a0042c0061 a0042c0061	a0042c0061t0001 a0042c0061t0001	a0042c0061t0001g0039 a0042c0061t0001g0039	1	118	0.0085	32	c.360 others(53): Show c.3607+28744_3607+28775dupCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0031 a0020c0016t0031	a0020c0016t0031g0036 a0020c0016t0031g0036	1	118	0.0085	32	c.367 others(51): Show c.3670-8057_3670-8056insGTGTGTGTATATATATATATATATAT ATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBLN1_chr22_45497883_45606135	45554966	T T	TACAGGAA others(25): Show TACAGGAAGTTAGGACCCGTCCCCATCTCCACC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03098.hp1 HG03225.hp1 others(3): Show HG02738.hp2 HG03098.hp1 HG03225.hp1 HG03688.hp1 HG03927.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0015t0001 a0001c0001t0001 a0001c0001t0002 a0001c0015t0001	a0001c0001t0001g0013 a0001c0001t0001g0176 a0001c0001t0001g0177 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0002g0275 a0001c0015t0001g0116	6	346	0.0173	32	c.169 others(51): Show c.1697+4374_1697+4375insATCTCCACCACAGGAAGTTAGGACCC GTCCCC	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45554967	A A	ACAGGAAG others(25): Show ACAGGAAGTTAGGACCCGTCCCCGTCTCCACCG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	346	0.0029	32	c.169 others(51): Show c.1697+4383_1697+4384insGCAGGAAGTTAGGACCCGTCCCCGTC TCCACC	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar

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Search Results (Total: 10000 hits)