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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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAM178B_chr2_96870885_96991580	96905840	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03688.hp1 HG02602.hp2 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0211 a0002c0002t0001g0206 a0002c0002t0001g0211	2	250	0.0080	-25	c.156 others(44): Show c.1563-3158_1563-3134delAAAAATATATATATATATATATATA	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	12/16			chr2	TogoVar
FAM178B_chr2_96870885_96991580	96905842	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp1 HG03139.hp1 HG02622.hp1 HG02976.hp1 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0096 a0001c0001t0001g0101 a0004c0004t0001g0125 a0001c0001t0001g0096 a0001c0001t0001g0101 a0004c0004t0001g0125	3	250	0.0120	-25	c.156 others(44): Show c.1563-3160_1563-3136delAAAAAAATATATATATATATATATA	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	12/16			chr2	TogoVar
FAM178B_chr2_96870885_96991580	96905844	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp2 HG03209.hp2 others(2): Show HG02717.hp2 HG02965.hp2 HG03209.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0003t0001 a0001c0012t0001 a0001c0001t0001 a0001c0003t0001 a0001c0012t0001	a0001c0001t0001g0013 a0001c0003t0001g0071 a0001c0012t0001g0139 others(2): Show a0001c0001t0001g0013 a0001c0003t0001g0071 a0001c0012t0001g0139 a0001c0012t0001g0140 a0001c0012t0001g0141	5	250	0.0200	-25	c.156 others(44): Show c.1563-3162_1563-3138delAAAAAAAAATATATATATATATATA	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	12/16			chr2	TogoVar
FAM178B_chr2_96870885_96991580	96905846	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA20300.hp1 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0112 a0001c0003t0001g0097 a0001c0001t0001g0112 a0001c0003t0001g0097	2	250	0.0080	-25	c.156 others(44): Show c.1563-3164_1563-3140delAAAAAAAAAAATATATATATATATA	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	12/16			chr2	TogoVar
FAM178B_chr2_96870885_96991580	96905848	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0099 a0001c0003t0001g0099	1	250	0.0040	-25	c.156 others(44): Show c.1563-3166_1563-3142delAAAAAAAAAAAAATATATATATATA	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding	12/16			chr2	TogoVar
FAM178B_chr2_96870885_96991580	96987178	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA19002.hp2 NA18965.hp1 NA19002.hp2	a0002 a0009 a0002 a0009	a0002c0027 a0009c0016 a0002c0027 a0009c0016	a0002c0027t0001 a0009c0016t0001 a0002c0027t0001 a0009c0016t0001	a0002c0027t0001g0201 a0009c0016t0001g0227 a0002c0027t0001g0201 a0009c0016t0001g0227	2	250	0.0080	-25	c.-89 others(34): Show c.-890_-866delTTTTTTTTTTTTTTTTTTTTTTTTT	FAM178B	ENSG00000168754.15	transcript	ENST00000490605.3	protein_coding		599		chr2	TogoVar
FAM184B_chr4_17624306_17786621	17632043	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp1 HG03139.hp2 HG02818.hp1 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0015 a0001c0005 a0001c0015	a0001c0005t0029 a0001c0015t0029 a0001c0005t0029 a0001c0015t0029	a0001c0005t0029g0184 a0001c0015t0029g0164 a0001c0005t0029g0184 a0001c0015t0029g0164	2	238	0.0084	-25	c.46 others(34): Show c.464_*488delAAAAAAAAAAAAAAAAAAAAAAAAA	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	18/18	464		chr4	TogoVar
FAM186A_chr12_50322309_50401609	50378564	ATATATAT others(18): Show ATATATATATACACATATGTAAATTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18952.hp2 NA18953.hp2 NA18961.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp1 NA18975.hp2 NA18980.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19057.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0013 a0014 a0015 a0017 a0021 a0027 a0030 a0031 a0032	a0001c0001 a0001c0039 a0001c0042 others(15): Show a0001c0001 a0001c0039 a0001c0042 a0002c0002 a0002c0033 a0003c0003 a0003c0020 a0004c0004 a0004c0027 a0013c0017 a0014c0018 a0015c0016 a0017c0043 a0021c0030 a0027c0038 a0030c0040 a0031c0041 a0032c0037	a0001c0001t0001 a0001c0039t0001 a0001c0042t0001 others(15): Show a0001c0001t0001 a0001c0039t0001 a0001c0042t0001 a0002c0002t0001 a0002c0033t0001 a0003c0003t0001 a0003c0020t0001 a0004c0004t0001 a0004c0027t0001 a0013c0017t0001 a0014c0018t0001 a0015c0016t0001 a0017c0043t0001 a0021c0030t0001 a0027c0038t0001 a0030c0040t0001 a0031c0041t0001 a0032c0037t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 others(123): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0332 a0001c0039t0001g0064 a0001c0042t0001g0077 a0002c0002t0001g0009 a0002c0002t0001g0073 a0002c0002t0001g0325 a0002c0033t0001g0321 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0260 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0294 a0003c0003t0001g0295 a0003c0003t0001g0298 a0003c0020t0001g0001 a0004c0004t0001g0255 a0004c0004t0001g0256 a0004c0004t0001g0274 a0004c0004t0001g0275 a0004c0004t0001g0276 a0004c0004t0001g0277 a0004c0004t0001g0278 a0004c0004t0001g0279 a0004c0004t0001g0280 a0004c0004t0001g0281 a0004c0004t0001g0282 a0004c0004t0001g0283 a0004c0004t0001g0284 a0004c0027t0001g0285 a0013c0017t0001g0003 a0013c0017t0001g0131 a0014c0018t0001g0011 a0014c0018t0001g0219 a0015c0016t0001g0004 a0015c0016t0001g0005 a0017c0043t0001g0306 a0021c0030t0001g0264 a0027c0038t0001g0006 a0030c0040t0001g0290 a0031c0041t0001g0299 a0032c0037t0001g0031	126	332	0.3795	-25	c.193 others(44): Show c.193-15225_193-15201delCAATTTACATATGTGTATATATATA	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	1/7			chr12	TogoVar
FAM193A_chr4_2531647_2737573	2590471	AAAAACAA others(18): Show AAAAACAAAAAAAAACAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01516.hp1 HG01884.hp2 others(17): Show HG01243.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp2 HG03704.hp2 HG03831.hp2 NA18906.hp2 NA19043.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0011 a0007c0007 a0001c0002 a0002c0011 a0007c0007	a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 others(5): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0013 a0001c0002t0016 a0002c0011t0003 a0007c0007t0001 a0007c0007t0003	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(17): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0113 a0001c0002t0001g0240 a0001c0002t0003g0112 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0009g0239 a0001c0002t0013g0117 a0001c0002t0016g0023 a0002c0011t0003g0114 a0007c0007t0001g0110 a0007c0007t0001g0115 a0007c0007t0003g0106 a0007c0007t0003g0107 a0007c0007t0003g0108 a0007c0007t0003g0109 a0007c0007t0003g0111 a0007c0007t0003g0118	20	330	0.0606	-25	c.256 others(42): Show c.256-5608_256-5584delCAAAAAAAAACAAAAAAAAACAAAA	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM210A_chr18_13658347_13731558	13659830	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0069 a0001c0001t0038g0069	1	326	0.0031	-25	c.66 others(36): Show c.6625_*6649delATATATATATATATATTTTTTTTTT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding		3516		chr18	TogoVar
FAM210A_chr18_13658347_13731558	13659832	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02886.hp2 NA19240.hp1 HG00323.hp1 HG02886.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0028 a0001c0001t0002 a0001c0001t0013 a0001c0001t0028	a0001c0001t0002g0010 a0001c0001t0013g0049 a0001c0001t0028g0038 a0001c0001t0002g0010 a0001c0001t0013g0049 a0001c0001t0028g0038	3	326	0.0092	-25	c.66 others(36): Show c.6623_*6647delATATATATATATATATATTTTTTTT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding		3514		chr18	TogoVar
FAM210A_chr18_13658347_13731558	13659834	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02080.hp2 HG02258.hp1 others(1): Show HG01074.hp1 HG02080.hp2 HG02258.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0015 a0001c0003t0001 a0001c0001t0004 a0001c0001t0015 a0001c0003t0001	a0001c0001t0004g0100 a0001c0001t0015g0082 a0001c0001t0015g0107 others(1): Show a0001c0001t0004g0100 a0001c0001t0015g0082 a0001c0001t0015g0107 a0001c0003t0001g0142	4	326	0.0123	-25	c.66 others(36): Show c.6621_*6645delATATATATATATATATATATTTTTT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding		3512		chr18	TogoVar
FAM210A_chr18_13658347_13731558	13659838	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02886.hp1 NA21309.hp2 HG02486.hp2 HG02886.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0003t0001 a0001c0003t0032 a0001c0001t0013 a0001c0003t0001 a0001c0003t0032	a0001c0001t0013g0035 a0001c0003t0001g0034 a0001c0003t0032g0037 a0001c0001t0013g0035 a0001c0003t0001g0034 a0001c0003t0032g0037	3	326	0.0092	-25	c.66 others(36): Show c.6617_*6641delATATATATATATATATATATATATT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding		3508		chr18	TogoVar
FAM210A_chr18_13658347_13731558	13728319	TTTTTTTT others(18): Show TTTTTTTTTTTTTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00735.hp1 others(45): Show HG00323.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02080.hp2 HG02683.hp1 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03225.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18943.hp2 NA18946.hp2 NA18954.hp2 NA18955.hp2 NA18961.hp1 NA18971.hp1 NA18980.hp2 NA18986.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19081.hp1 NA19083.hp2 NA19088.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042	a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0010 others(38): Show a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0067 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0103 a0001c0001t0002g0143 a0001c0001t0004g0012 a0001c0001t0004g0039 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0004g0075 a0001c0001t0004g0079 a0001c0001t0004g0083 a0001c0001t0004g0086 a0001c0001t0004g0100 a0001c0001t0012g0085 a0001c0001t0012g0090 a0001c0001t0015g0077 a0001c0001t0015g0082 a0001c0001t0015g0107 a0001c0001t0017g0094 a0001c0001t0017g0097 a0001c0001t0018g0095 a0001c0001t0018g0096 a0001c0001t0021g0063 a0001c0001t0021g0073 a0001c0001t0030g0084 a0001c0001t0031g0091 a0001c0001t0037g0061 a0001c0001t0038g0069 a0001c0001t0039g0101 a0001c0001t0041g0068 a0001c0001t0042g0105	48	326	0.1472	-25	c.-20 others(36): Show c.-2044_-2020delCACACACACACACAAAAAAAAAAAA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding		1762		chr18	TogoVar
FAM210A_chr18_13658347_13731558	13728321	TTTTTTTT others(18): Show TTTTTTTTTTTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01070.hp2 others(4): Show HG00099.hp1 HG00738.hp1 HG01070.hp2 HG01256.hp1 HG03486.hp1 HG04199.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0029 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0029 a0001c0001t0040	a0001c0001t0002g0062 a0001c0001t0002g0092 a0001c0001t0002g0104 others(4): Show a0001c0001t0002g0062 a0001c0001t0002g0092 a0001c0001t0002g0104 a0001c0001t0012g0071 a0001c0001t0012g0102 a0001c0001t0029g0108 a0001c0001t0040g0088	7	326	0.0215	-25	c.-20 others(36): Show c.-2046_-2022delCACACACACACACACAAAAAAAAAA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding		1764		chr18	TogoVar
FAM221A_chr7_23675199_23707650	23685256	GCAAAACA others(18): Show GCAAAACAAAACAAAACAAAACAAAA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	410	0.0024	-25	c.239 others(40): Show c.239+611_239+635delAAAACAAAACAAAACAAAACAAAAC	FAM221A	ENSG00000188732.11	transcript	ENST00000344962.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM222A_chr12_109708825_109775495	109755287	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	366	0.0027	-25	c.82+ others(42): Show c.82+11077_82+11101delTTTTTTTTTTTTTTTTTTTTTTTTT	FAM222A	ENSG00000139438.6	transcript	ENST00000538780.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
FAM227A_chr22_38573118_38661392	38613172	ATATATTA others(18): Show ATATATTATATATAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG02976.hp1 HG02280.hp1 HG02886.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0168 a0001c0001t0018g0169 a0001c0001t0018g0170 a0001c0001t0018g0168 a0001c0001t0018g0169 a0001c0001t0018g0170	3	328	0.0092	-25	c.103 others(44): Show c.1039-5721_1039-5697delATATATATATATTATATATAATATA	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	11/16			chr22	TogoVar
FAM43A_chr3_194680883_194694037	194684537	AAAAGTAA others(18): Show AAAAGTAACTTAAATGGAAACTCAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(324): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0001c0015 a0002c0006 a0003c0005 a0004c0013 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0005 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0012 a0001c0003t0017 a0001c0003t0018 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0015 a0001c0004t0022 a0001c0007t0002 a0001c0012t0001 a0001c0015t0002 a0002c0006t0008 a0003c0005t0009 a0004c0013t0002 a0006c0009t0004	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(28): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 a0001c0001t0010g0000 a0001c0001t0011g0000 a0001c0001t0014g0000 a0001c0001t0023g0000 a0001c0001t0024g0000 a0001c0001t0025g0000 a0001c0001t0026g0000 a0001c0001t0027g0000 a0001c0002t0005g0000 a0001c0003t0004g0000 a0001c0003t0005g0000 a0001c0003t0007g0000 a0001c0003t0012g0000 a0001c0003t0017g0000 a0001c0003t0018g0000 a0001c0004t0001g0000 a0001c0004t0002g0000 a0001c0004t0010g0000 a0001c0004t0015g0000 a0001c0004t0022g0000 a0001c0007t0002g0000 a0001c0012t0001g0000 a0001c0015t0002g0000 a0002c0006t0008g0000 a0003c0005t0009g0000 a0004c0013t0002g0000 a0006c0009t0004g0000	327	442	0.7398	-25	c.-22 others(36): Show c.-2289_-2265delAAAGTAACTTAAATGGAAACTCAGC	FAM43A	ENSG00000185112.6	transcript	ENST00000329759.6	protein_coding		1345		chr3	TogoVar
FAM53A_chr4_1634887_1689313	1649876	TGTTTGTG others(18): Show TGTTTGTGAGGTGGCACAGGCGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0141 a0001c0001t0057g0141	1	350	0.0029	-25	c.882 others(42): Show c.882+5077_882+5101delGCCACGCCTGTGCCACCTCACAAAC	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	4/4			chr4	TogoVar
FAM83E_chr19_48594961_48620076	48602705	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0042 a0002c0001t0042	a0002c0001t0042g0037 a0002c0001t0042g0037	1	414	0.0024	-25	c.117 others(42): Show c.1176+764_1176+788delATATATATATATATATATATATATA	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	6/6			chr19	TogoVar
FAM83E_chr19_48594961_48620076	48614777	GGCTCCCC others(18): Show GGCTCCCCGGCTTCTACTTCTGCGGT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0068 a0006c0010t0068	a0006c0010t0068g0389 a0006c0010t0068g0389	1	414	0.0024	-25	c.-13 others(36): Show c.-1350_-1326delACCGCAGAAGTAGAAGCCGGGGAGC	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding	2/7	1406		chr19	TogoVar
FAM86B1_chr8_12177106_12199082	12189250	AAAAATAT others(18): Show AAAAATATATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0021 a0015c0022t0021	a0015c0022t0021g0140 a0015c0022t0021g0140	1	176	0.0057	-25	c.240 others(40): Show c.240+533_240+557delATTTATTTATTTATTTATATATTTT	FAM86B1	ENSG00000186523.15	transcript	ENST00000448228.7	protein_coding	3/6			chr8	TogoVar
FAM9A_chrX_8785795_8806383	8787336	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01978.hp2 HG00609.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	303	0.0066	-25	c.38 others(36): Show c.3843_*3867delTATTTTATTTTATTTTATTTTATTT	FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding		3458		chrX	TogoVar
FANCI_chr15_89238979_89322131	89288675	ACTAGTGC others(18): Show ACTAGTGCAGTCTAACTCACTGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	346	0.0029	-25	c.182 others(44): Show c.1822-1535_1822-1511delAGTGCAGTCTAACTCACTGCAGCCT	FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	18/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
FANCL_chr2_58154247_58246325	58217141	AGATTTAT others(18): Show AGATTTATATATATATTTATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	390	0.0026	-25	c.374 others(42): Show c.374+4776_374+4800delAAATATATAAATATATATATAAATC	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FANCL_chr2_58154247_58246325	58217142	GATTTATA others(18): Show GATTTATATATATATTTATATATTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG02148.hp1 others(2): Show HG00408.hp1 HG00639.hp1 HG02148.hp1 NA18992.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0303 a0001c0001t0001g0316 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0303 a0001c0001t0001g0316 a0001c0001t0001g0321	5	390	0.0128	-25	c.374 others(42): Show c.374+4775_374+4799delAAAATATATAAATATATATATAAAT	FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13			chr2	TogoVar
FARP1_chr13_98138094_98460176	98379211	TATAATAT others(18): Show TATAATATATAATCTATCTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18612.hp1 HG02300.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0002t0081 a0001c0001t0025 a0001c0002t0081	a0001c0001t0025g0030 a0001c0002t0081g0105 a0001c0001t0025g0030 a0001c0002t0081g0105	2	218	0.0092	-25	c.496 others(42): Show c.496+1296_496+1320delAATATATAATCTATCTATATATAAT	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARS2_chr6_5256513_5776583	5296090	TGCGGTGA others(18): Show TGCGGTGAAATGTACAAACATAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	170	0.0059	-25	c.-22 others(44): Show c.-22+34431_-22+34455delGCGGTGAAATGTACAAACATAAAAA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6			chr6	TogoVar
FARS2_chr6_5256513_5776583	5341206	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG02895.hp2 others(1): Show HG02145.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0109	4	170	0.0235	-25	c.-21 others(44): Show c.-21-27343_-21-27319delATATATATATATATATATATATATA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6			chr6	TogoVar
FARS2_chr6_5256513_5776583	5341208	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0077 a0001c0001t0001g0090	2	170	0.0118	-25	c.-21 others(44): Show c.-21-27341_-21-27317delATATATATATATATATATATATATA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6			chr6	TogoVar
FARS2_chr6_5256513_5776583	5341210	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	170	0.0059	-25	c.-21 others(44): Show c.-21-27339_-21-27315delATATATATATATATATATATATATA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6			chr6	TogoVar
FARS2_chr6_5256513_5776583	5341211	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	170	0.0059	-25	c.-21 others(44): Show c.-21-27337_-21-27313delATATATATATATATATATATATATT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5341213	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03017.hp1 HG01952.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0086 a0001c0001t0001g0032 a0001c0001t0001g0086	2	170	0.0118	-25	c.-21 others(44): Show c.-21-27335_-21-27311delATATATATATATATATATATATTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5341215	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG04115.hp1 HG01175.hp2 HG01257.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0071 a0001c0001t0001g0073 a0002c0002t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0002c0002t0001g0065	3	170	0.0177	-25	c.-21 others(44): Show c.-21-27333_-21-27309delATATATATATATATATATATTTTTT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5432326	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02818.hp1 HG02922.hp1 HG02280.hp1 HG02818.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0101 a0001c0001t0002g0129 a0001c0004t0002g0150 a0001c0001t0002g0101 a0001c0001t0002g0129 a0001c0004t0002g0150	3	170	0.0177	-25	c.904 others(42): Show c.904+1155_904+1179delAATATATATATATATATATATATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6			chr6	TogoVar
FAT1_chr4_186582794_186728856	186610685	ATTATATA others(18): Show ATTATATAATTTATATAAATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01346.hp1 HG00280.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0282 a0001c0001t0002g0268 a0001c0001t0001g0282 a0001c0001t0002g0268	2	338	0.0059	-25	c.985 others(42): Show c.9853+676_9854-671delATTTATATTTATATAAATTATATAA	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	14/26			chr4	TogoVar
FBN1_chr15_48403313_48650709	48469087	TATATATA others(18): Show TATATATAAAATATAATATATATTAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02572.hp2 others(7): Show HG01884.hp1 HG02257.hp1 HG02572.hp2 HG02622.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03540.hp1 NA18978.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0001c0022 a0002c0003 a0003c0008	a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 others(5): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0005t0013 a0001c0006t0013 a0001c0022t0013 a0002c0003t0006 a0003c0008t0005	a0001c0001t0005g0136 a0001c0001t0005g0280 a0001c0001t0008g0121 others(7): Show a0001c0001t0005g0136 a0001c0001t0005g0280 a0001c0001t0008g0121 a0001c0001t0010g0018 a0001c0005t0013g0199 a0001c0006t0013g0215 a0001c0022t0013g0010 a0002c0003t0006g0173 a0003c0008t0005g0015 a0003c0008t0005g0122	10	288	0.0347	-25	c.446 others(42): Show c.4460-578_4460-554delGTAATATATATTATATTTTATATAT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	36/65			chr15	TogoVar
FBN3_chr19_8060402_8154592	8120300	GCTGGACC others(18): Show GCTGGACCTACAGGTGCACGCCACCA	G G	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0260 a0014c0012t0001g0260	1	380	0.0026	-25	c.321 others(42): Show c.3211+933_3211+957delTGGTGGCGTGCACCTGTAGGTCCAG	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	25/63			chr19	TogoVar
FBXL13_chr7_102806189_103079796	102848555	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0057 a0001c0006t0001g0057	1	328	0.0031	-25	c.198 others(44): Show c.1989+6197_1989+6221delTTTTTTTTTTTTTTTTTTTTTTTTT	FBXL13	ENSG00000161040.19	transcript	ENST00000440067.4	protein_coding	18/20			chr7	TogoVar
FBXL17_chr5_107854035_108387098	108189287	AGGATGGG others(18): Show AGGATGGGATGGGATGGGATGGGATG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01358.hp1 HG00738.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0155 a0001c0001t0010g0174 a0001c0001t0010g0155 a0001c0001t0010g0174	2	244	0.0082	-25	c.161 others(44): Show c.1615-3065_1615-3041delCATCCCATCCCATCCCATCCCATCC	FBXL17	ENSG00000145743.18	transcript	ENST00000542267.7	protein_coding	5/8			chr5	TogoVar
FBXL19_chr16_30918572_30953783	30918667	TCTTCTTC others(18): Show TCTTCTTCTCCTTCTCCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(103): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03710.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18939.hp2 NA18952.hp2 NA18974.hp1 NA18980.hp1 NA18981.hp1 NA18986.hp2 NA18987.hp1 NA18995.hp1 NA19002.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19059.hp1 NA19063.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0003t0001 a0001c0006t0014 a0002c0005t0001 a0003c0004t0020	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(76): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0002g0001 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0130 a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0110 a0001c0001t0003g0127 a0001c0001t0004g0005 a0001c0001t0004g0066 a0001c0001t0004g0111 a0001c0001t0004g0133 a0001c0001t0004g0139 a0001c0001t0005g0001 a0001c0001t0005g0125 a0001c0001t0006g0001 a0001c0001t0007g0017 a0001c0001t0010g0005 a0001c0001t0015g0105 a0001c0001t0016g0102 a0001c0001t0017g0016 a0001c0001t0019g0014 a0001c0001t0021g0001 a0001c0003t0001g0009 a0001c0003t0001g0016 a0001c0006t0014g0114 a0002c0005t0001g0136 a0003c0004t0020g0120	106	238	0.4454	-25	c.-58 others(36): Show c.-5816_-5792delCTTCTTCTCCTTCTCCTTCTTCTTC	FBXL19	ENSG00000099364.18	transcript	ENST00000338343.10	protein_coding		4904		chr16	TogoVar
FBXO27_chr19_39019021_39037549	39019424	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(103): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02300.hp2 HG02602.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 a0002c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(20): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0004t0002g0045 a0002c0002t0002g0044	106	424	0.2500	-25	c.59 others(36): Show c.5962_*5986delTTTTTTTTTTTTTTTTTTTTTTTTT	FBXO27	ENSG00000161243.10	transcript	ENST00000292853.9	protein_coding		4596		chr19	TogoVar
FBXO31_chr16_87321987_87388776	87333220	GCAAGCCT others(18): Show GCAAGCCTCGTCCCATGTCAGCCGCC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp1 HG02897.hp2 others(2): Show HG02486.hp1 HG02896.hp1 HG02897.hp2 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0024 a0001c0001t0011 a0001c0001t0024	a0001c0001t0011g0342 a0001c0001t0011g0343 a0001c0001t0011g0344 others(2): Show a0001c0001t0011g0342 a0001c0001t0011g0343 a0001c0001t0011g0344 a0001c0001t0011g0345 a0001c0001t0024g0062	5	376	0.0133	-25	c.139 others(42): Show c.1397+641_1397+665delGGCGGCTGACATGGGACGAGGCTTG	FBXO31	ENSG00000103264.18	transcript	ENST00000311635.12	protein_coding	8/8			chr16	TogoVar
FBXO31_chr16_87321987_87388776	87363713	CAGGGACT others(18): Show CAGGGACTCTGTGAGAGTCTCCTGAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	376	0.0027	-25	c.341 others(42): Show c.341-3372_341-3348delCTCAGGAGACTCTCACAGAGTCCCT	FBXO31	ENSG00000103264.18	transcript	ENST00000311635.12	protein_coding	1/8			chr16	TogoVar
FBXO34_chr14_55266421_55358611	55322248	TGCAGTGA others(18): Show TGCAGTGAGCCGAGATCACGCCACTG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0326 a0004c0004t0006g0326	1	334	0.0030	-25	c.-10 others(44): Show c.-10-28132_-10-28108delGCAGTGAGCCGAGATCACGCCACTG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1			chr14	TogoVar
FBXO45_chr3_196563660_196594059	196589455	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA18979.hp1 HG03139.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0002 a0001c0001t0003 a0001c0004t0002	a0001c0001t0003g0110 a0001c0004t0002g0175 a0001c0001t0003g0110 a0001c0004t0002g0175	2	452	0.0044	-25	c.51 others(36): Show c.5138_*5162delTTTTTTTTTTTTTTTTTTTTTTTTT	FBXO45	ENSG00000174013.8	transcript	ENST00000311630.7	protein_coding		397		chr3	TogoVar
FBXO7_chr22_32469811_32503829	32500989	GACTCTTC others(18): Show GACTCTTCCTTGGTAGCTGCCTGATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	414	0.0024	-25	c.24 others(36): Show c.2460_*2484delACTCTTCCTTGGTAGCTGCCTGATT	FBXO7	ENSG00000100225.18	transcript	ENST00000266087.12	protein_coding		2161		chr22	TogoVar
FCGR2B_chr1_161658143_161683654	161669574	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01071.hp1 others(36): Show HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG02148.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02683.hp1 HG02735.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 NA18947.hp1 NA18951.hp1 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0003 a0001c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0054 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0189 a0001c0001t0002g0175 a0001c0001t0005g0092 a0001c0003t0003g0174 a0001c0004t0002g0030 a0001c0004t0002g0172	39	394	0.0990	-25	c.113 others(40): Show c.113-652_113-628delAAAATAAAATAAAATAAAATAAAAT	FCGR2B	ENSG00000072694.22	transcript	ENST00000358671.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
FCHSD2_chr11_72831745_73147318	72835373	GAGGCAGG others(18): Show GAGGCAGGAGAGGTGGTGGTGAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	290	0.0035	-25	c.33 others(36): Show c.3393_*3417delTTTCTCACCACCACCTCTCCTGCCT	FCHSD2	ENSG00000137478.15	transcript	ENST00000409418.9	protein_coding		1371		chr11	TogoVar

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Search Results (Total: 4527 hits)